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Gene: Cd2ap MGI:1330281

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Gene Summary

Name:
CD2-associated protein
Synonyms:
METS-1,  Mets1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Cd2apem1(IMPC)Bay HOM   Early adult 0.00
decreased grip strength Cd2apem1(IMPC)Bay HOM   Early adult 1.17×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

VIP of right fundus

20 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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Eye Morphology

VIP of left fundus

36 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

21 Images

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Eye Morphology

VIP of left eye

37 Images

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Eye Morphology

VIP of right eye

37 Images

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X-ray

XRay Images Whole Body Dorso Ventral

21 Images

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Eye Morphology

VIP of right eye

20 Images

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X-ray

XRay Images Skull Lateral Orientation

8 Images

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Eye Morphology

VIP of left eye

20 Images

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Eye Morphology

VIP of right fundus

37 Images

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X-ray

XRay Images Skull Lateral Orientation

21 Images

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X-ray

XRay Images Whole Body Lateral Orientation

21 Images

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X-ray

XRay Images Forepaw

21 Images

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Eye Morphology

VIP of left fundus

20 Images

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X-ray

XRay Images Forepaw

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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Human diseases caused by Cd2ap mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Cd2ap by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria OMIM:607832
Genetic Steroid-Resistant Nephrotic Syndrome
Stage 5 chronic kidney disease, Peritonitis, Minimal change glomerulonephritis, Foamy urine, Diff... ORPHA:656

The table below shows human diseases predicted to be associated to Cd2ap by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephrotic Syndrome, Type 21
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Podocyte foot process effac... OMIM:618594
Nephrotic Syndrome, Type 4
Nephroblastoma, Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency, Focal segme... OMIM:256370
Nephrotic Syndrome, Type 9
Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy... OMIM:615573
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Steroid-resistant... OMIM:617609
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... OMIM:614131
Nephrotic Syndrome, Type 12
Stage 5 chronic kidney disease, Hematuria, Diffuse mesangial sclerosis, Steroid-resistant nephrot... OMIM:616892
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental ... OMIM:600995
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney disease, Mic... ORPHA:54370
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Elevated circulating creatinine c... OMIM:161900
Nephrotic Syndrome, Type 17
Short stature, Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome,... OMIM:618176
Coenzyme Q10 Deficiency, Primary, 6
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr... OMIM:614650
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... OMIM:614196
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Foc... OMIM:610725
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... OMIM:619201
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome OMIM:249660
Focal Segmental Glomerulosclerosis 1
Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental glomerulosclerosis, ... OMIM:603278
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s... OMIM:618178
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:301028
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616032
Focal Segmental Glomerulosclerosis 10
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... OMIM:256020
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... OMIM:616002
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... OMIM:614817
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria OMIM:611771
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abnormal glomerular mesangium morphology... ORPHA:84090
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscleros... OMIM:603965
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Short stature, Beta 2-... OMIM:308990
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Hyperuricemia, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Foca... OMIM:613092
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619263
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Hyperprolinemia, Proteinuria ORPHA:419
Nephrotic Syndrome, Type 26
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:620049
Nephrotic Syndrome, Type 22
Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr... OMIM:619155
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria OMIM:607832
Focal Segmental Glomerulosclerosis 5
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:613237
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Acute kidney injury, Skin rash, Arthritis, Synovitis, Serositis, Glomerulonep... ORPHA:567544
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... OMIM:618349
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Stage 5 chronic kidney disease, Nephrotic syndrome, Pro... OMIM:601894
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria OMIM:613944
Proteinuria, Chronic Benign
Renal insufficiency, Proteinuria, Albuminuria OMIM:618884
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... OMIM:310468
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Thin glomerular ... OMIM:615244
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropa... OMIM:137950
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Hyperuricemia, Short stature, Renal cyst, Gout, Nephropathy, Elevated circulating creatinine conc... OMIM:617056
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Abnormal urine output, Acute kidn... ORPHA:567548
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Hypoalbuminemia, Nephrotic syndrome OMIM:614652
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Short stature, Proteinuria, Microscopic hematuria ORPHA:2613
Genetic Steroid-Resistant Nephrotic Syndrome
Stage 5 chronic kidney disease, Peritonitis, Minimal change glomerulonephritis, Foamy urine, Diff... ORPHA:656
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level, Abnorma... ORPHA:2843
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Hypoproteinemia, Diff... OMIM:256300
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Nephropathy, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis OMIM:182690
Focal Segmental Glomerulosclerosis 9
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:616220
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Elevated circula... OMIM:614455
C3 Glomerulopathy 3
Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... OMIM:614809
Nephrotic Syndrome, Type 7
Hemolytic-uremic syndrome, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney diseas... OMIM:615008
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Stage 5 chronic kidney disease, Proteinuria, Nephrotic syndrome OMIM:614199
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Nephronophthisis 13
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glomerular subepithelial immune-comp... OMIM:614377
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Hyperuricemia, Nephritis, Gout, Nephropathy, Decreased glomerular filtrati... OMIM:162000
Hereditary Renal Hypouricemia
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... ORPHA:94088
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Hyperuricemia, Multiple glomerular cysts OMIM:609886
Nephrotic Syndrome, Type 11
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... OMIM:616730
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Mesangial hypercellu... OMIM:616818
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria OMIM:161950
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria... OMIM:612925
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:617783
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate,... OMIM:242530
Nephrotic Syndrome, Type 10
Steroid-resistant nephrotic syndrome, Minimal change glomerulonephritis, Podocyte foot process ef... OMIM:615861
Tubulointerstitial Nephritis With Uveitis
Acute tubulointerstitial nephritis, Uveitis, Glomerulonephritis, Reversible renal failure, Elevat... OMIM:607665
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612926
Polycystic Kidney Disease 7
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... OMIM:620056
Nephronophthisis-Like Nephropathy 2
Bronchiectasis, Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Elevated ci... OMIM:619468
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612924
C3 Glomerulopathy
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... ORPHA:329918
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Tubulointerstitial nephritis, Hyperuricemia, Stage 5 chronic kidney diseas... OMIM:174000
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Hypouricemia, Renal, 1
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... OMIM:220150
Xanthinuria, Type Ii
Hyperxanthinemia, Increased urinary hypoxanthine, Hypouricemia, Xanthinuria, Renal insufficiency,... OMIM:603592
Galloway-Mowat Syndrome 6
Short stature, Nephrotic syndrome, Growth delay, Proteinuria, Focal segmental glomerulosclerosis,... OMIM:618347
Adenine Phosphoribosyltransferase Deficiency
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Elevated circulating creati... OMIM:614723
Spastic Paraplegia-Nephritis-Deafness Syndrome
Severe short stature, Nephropathy, Proteinuria ORPHA:2820
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Ornithinuria, Cystinuria, Argininuria, Renal ... OMIM:220100
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... ORPHA:730
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrot... ORPHA:839
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot process e... OMIM:617575
Cryoglobulinemia, Familial Mixed
Hematuria, Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria,... OMIM:123550
Galloway-Mowat Syndrome 2, X-Linked
Short stature, Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephri... OMIM:301006
Fanconi Renotubular Syndrome 3
Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Growth delay, Low-molecular-weight p... OMIM:615605
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:160010
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Short stature, Jaundice, Acholic stools, Portal fibrosis, Increased se... OMIM:619868
Nephrosialidosis
Nephrotic syndrome, Pericardial effusion, Nephropathy, Bone-marrow foam cells, Ascites, Renal ins... OMIM:256150
Galloway-Mowat Syndrome 4
Congenital nephrotic syndrome, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesang... OMIM:617730
Galloway-Mowat Syndrome 10
Stage 5 chronic kidney disease, Proteinuria, Podocyte foot process effacement, Diffuse mesangial ... OMIM:619609
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulonephritis, Colitis,... OMIM:617006
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Abnormal tubulointerstitial morphology, Nephropathy, Chronic kidney disease OMIM:602114
Preeclampsia
Acute kidney injury, Abnormality of the kidney, Elevated circulating creatinine concentration, Pr... ORPHA:275555
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... OMIM:601331
Glycogen Storage Disease X
Renal insufficiency, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:261670
Galactosemia I
Aminoaciduria, Increased level of galactonate in red blood cells, Hypergalactosemia, Increased le... OMIM:230400
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Nephrotic syndrome, Hematuria, Membranoproliferative gl... OMIM:608709
Glycogen Storage Disease Xi
Renal insufficiency, Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kinas... OMIM:612933
Alpha-Heavy Chain Disease
Anemia, Lymphadenopathy, Growth delay, Hepatomegaly, Dysgammaglobulinemia, Ascites, Hypocalcemia,... ORPHA:100025
Dent Disease 2
Aminoaciduria, Proximal tubulopathy, Short stature, Hypophosphatemia, Elevated circulating creati... OMIM:300555
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Azo... OMIM:104200
Cholestasis, Progressive Familial Intrahepatic, 12
Short stature, Hyperbilirubinemia, Jaundice, Increased serum bile acid concentration, Hepatomegal... OMIM:620010
Frasier Syndrome
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:136680
Galloway-Mowat Syndrome 5
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:617731
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal cortical hyperechogenicity, Short stature, Beta 2-microglobulinuria, Medullary nephrocalcin... OMIM:611555
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Complement Factor H Deficiency
Glomerular subendothelial electron-dense deposits, Hematuria, Thickened glomerular basement membr... OMIM:609814
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Uric acid nephrolithiasis, Hyperuricemia, Acute kidney injury, Dysuria, Gout, Nephropathy, Macros... ORPHA:79233
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Ascites, Polycystic liver disease, Increased total bilirubin OMIM:174050
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Stage 5 chronic kidney disease, Microscopic hematuria, Minimal change glomerulonephritis, Macrosc... ORPHA:567546
Galloway-Mowat Syndrome 7
Renal tubular atrophy, IgA deposition in the glomerulus, Short stature, Nephrotic syndrome, Stage... OMIM:618348
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Proteinuria OMIM:245900
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Hyperammonemia, Ascites, Splen... OMIM:271500
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Jaundice, Hepatomegaly, Ascites, Renal insufficiency ORPHA:890
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Intrauterin... ORPHA:255249
Preeclampsia/Eclampsia 1
Proteinuria, Intrauterine growth retardation OMIM:189800
Bardet-Biedl Syndrome 18
Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Neuraminidase Deficiency
Hydrops fetalis, Short stature, Ascites, Urinary excretion of sialylated oligosaccharides, Increa... OMIM:256550
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Uric acid nephrolithiasis, Crystalluria, Hyperuricemia, Stage 4 chronic kidney disease, Acute kid... ORPHA:411536
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Anemia, Renal hypoplasia/aplasia, Hypoplasia of penis, Oligohydramnios, Hypospadi... ORPHA:1046
Lesch-Nyhan Syndrome
Gout, Renal insufficiency, Hyperuricemia, Hematuria ORPHA:510
Nephronophthisis 20
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... OMIM:617271
Diffuse Neonatal Hemangiomatosis
Polyhydramnios, Anemia, Hydrops fetalis, Renal hypoplasia/aplasia, Thrombocytopenia, Hypercalcemi... ORPHA:2123
Pauci-Immune Glomerulonephritis
Nephrotic range proteinuria, Tubulointerstitial nephritis, Scleritis, Acute kidney injury, Arteri... ORPHA:93126
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome OMIM:613913
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Reduced natural killer cell activity, Decreased circulating antibody level, Fulminan... OMIM:308240
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Nephrotic syndrome, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes,... OMIM:269920
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Stage 5 chronic k... ORPHA:228302
Lcat Deficiency
Renal insufficiency, Acute kidney injury, Stage 5 chronic kidney disease, Decreased glomerular fi... ORPHA:650
Xanthinuria, Type I
Hyperxanthinemia, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria, Hydronephrosis OMIM:278300
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Renal insufficiency, Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kinas... ORPHA:2364
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Proteinuria, Renal insufficiency, Hypercalcemia ORPHA:2668
Bardet-Biedl Syndrome 14
Renal insufficiency OMIM:615991
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomerulonephritis, Nephrotic syn... OMIM:613779
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyperuricemia, Renal salt wasting, Increased blood urea nitrogen, Polyuria, Hyponatremia, Protein... OMIM:613845
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Left ventricular hypertrophy, Oligohydramnios, Intrauterine growth retardation, ... OMIM:616733
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Proteinuria, Hematuria ORPHA:2134
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Chronic decreased circulating total IgG, Decreased specific pneumoco... OMIM:613496
Fetal Parvovirus Syndrome
Anemia, Hydrops fetalis, Hypertrophic cardiomyopathy, Ascites, Thrombocytopenia, Increased nuchal... ORPHA:295
Primary Intestinal Lymphangiectasia
Pericardial effusion, Pleural effusion, Decreased circulating IgG level, Decreased circulating to... ORPHA:90362
Dent Disease
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... ORPHA:1652
Glycogen Storage Disease V
Myoglobinuria, Dark urine, Hyperuricemia, Elevated circulating creatine kinase concentration OMIM:232600
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Hematuria, Decreased serum creatinine, Proteinuria, Renal insufficiency ORPHA:54057
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency OMIM:615987
Nephronophthisis 2
Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Absence of renal corticomedullary ... OMIM:602088
Immunodeficiency 27A
Anemia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Incr... OMIM:209950
Bardet-Biedl Syndrome 16
Short stature, Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Recurrent otitis ... OMIM:615993
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Distal renal tubular acidosis, Impaired urinary acidification, Nephrocalcinosis, Hyp... OMIM:179800
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Rhizomelia, Short stature, Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, ... OMIM:614376
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... OMIM:203780
Camos Syndrome
Renal insufficiency, Nephrotic syndrome ORPHA:83472
Hyperuricemia, Hprt-Related
Hyperuricemia, Podagra, Renal insufficiency, Nephrolithiasis, Hyperuricosuria OMIM:300323
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Jaundice, Decreased proportion of CD4-positive T cells, Hep... OMIM:301045
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Alg1-Cdg
Abnormality of the kidney, Renal insufficiency, Hypoalbuminemia, Nephrotic syndrome ORPHA:79327
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Reduced natural killer cell activity, Short stature, P... OMIM:616050
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Thickening of the tubular b... OMIM:266900
Aicardi-Goutieres Syndrome 9
Pericardial effusion, Hepatosplenomegaly, Pericarditis, Hepatic steatosis, Hepatomegaly, Hepatic ... OMIM:619487
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Stage 5 chronic kidney disease, Glomerular basement membrane disruption, Thickened glomerular bas... OMIM:609057
Alport Syndrome
Renal tubular atrophy, IgA deposition in the glomerulus, Glomerular basement membrane lamellation... ORPHA:63
Nephronophthisis
Renal insufficiency ORPHA:655
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Nephrotic syndrome, Nephropathy, Proteinuria, Renal insufficiency, Focal segmenta... OMIM:254900
Drug-Induced Lupus Erythematosus
Malar rash, Hematuria, Elevated circulating creatine kinase concentration, Pericarditis, Increase... ORPHA:231111
Wolcott-Rallison Syndrome
Double outlet right ventricle, Abnormality of the liver, Neutropenia, Short stature, Lymphocytosi... ORPHA:1667
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Pericardial effusion, Oligohydramnios, Pleural effusion, Hypertrophic cardiomyop... OMIM:614702
Adenine Phosphoribosyltransferase Deficiency
Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... ORPHA:976
Frasier Syndrome
Nephroblastoma, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Proteinuria, Focal segme... ORPHA:347
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Pro... ORPHA:439232
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal circulating lipid concentration ORPHA:225
Sialidosis Type 2
Pedal edema, Hydrops fetalis, Short stature, Nephropathy, Hepatomegaly, Ascites, Splenomegaly ORPHA:87876
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Abnormal renal physiology, Increased blood urea nitrogen, Elevated cir... OMIM:274150
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Pancytopenia, Hepatic steatosis, ... OMIM:617872
Fanconi Renotubular Syndrome 1
Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Renal... OMIM:134600
Renal Hypoplasia
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... ORPHA:93101
Galloway-Mowat Syndrome 9
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis OMIM:619603
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Hypernatriuria, De... OMIM:300539
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Proximal tubulopathy, Short stature, Glycosuria, Hypophosphatemia, Gener... OMIM:613388
Nephronophthisis 7
Nephronophthisis, Renal tubular atrophy, Stage 5 chronic kidney disease OMIM:611498
Paternal Uniparental Disomy Of Chromosome 1
Short stature, Enlarged kidney, Membranoproliferative glomerulonephritis, Increased blood urea ni... ORPHA:251004
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Prostatitis, Sclerosing cholangitis, Pericarditis, Renal interstitia... ORPHA:449395
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating... ORPHA:247598
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma, Hypoalbuminemia OMIM:227090
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Perimembranous ventricular septal defect, Ascites, Oligohydramnios, Edema, Cholestasis, H... OMIM:608104
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Decreased hepatic echogenicity, Increased circulating creatine kinase MM isof... OMIM:613752
Glycogen Storage Disease Ia
Hyperuricemia, Short stature, Enlarged kidney, Gout, Delayed puberty, Decreased glomerular filtra... OMIM:232200
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Edema, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria, Spleno... OMIM:105200
Uremic Pruritus
Inflammatory abnormality of the skin, Stage 5 chronic kidney disease, Hypermagnesemia, Increased ... ORPHA:94059
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Renal insufficiency, Myoglobinuria OMIM:255110
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Hyperu... OMIM:603860
Oligomeganephronia
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... ORPHA:2260
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Hypospadias, Growth delay, Proteinuria OMIM:619428
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemia OMIM:620085
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Congenital Toxoplasmosis
Anemia, Ascites, Jaundice, Lymphadenopathy, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Intraut... ORPHA:858
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypophosphatemic ric... OMIM:618913
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Decreased circulating antibody level, Generalized edema, Edema, Hypoproteinemia, Thromboc... OMIM:226300
Hereditary Xanthinuria
Uric acid nephrolithiasis, Crystalluria, Recurrent urinary tract infections, Acute kidney injury,... ORPHA:3467
Glycogen Storage Disease Iv
Polyhydramnios, Cirrhosis, Hydrops fetalis, Hepatosplenomegaly, Edema, Ascites, Portal hypertensi... OMIM:232500
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency, Short stature OMIM:618681
Leishmaniasis
Leukopenia, Anemia, Abnormal macrophage morphology, Increased circulating antibody level, Pancyto... ORPHA:507
Tyrosinemia, Type I
Hypermethioninemia, Cirrhosis, Anemia, Enlarged kidney, Ascites, Hepatocellular carcinoma, Glomer... OMIM:276700
Coenzyme Q10 Deficiency, Primary, 1
Nephrotic syndrome, Glomerular sclerosis, Elevated circulating creatine kinase concentration, Pro... OMIM:607426
Igg4-Related Retroperitoneal Fibrosis
Nephrotic syndrome, Acute kidney injury, Dysuria, Renal tubular epithelial necrosis, Rheumatoid a... ORPHA:49041
Free Sialic Acid Storage Disease
Hydrops fetalis, Nephrotic syndrome, Hepatomegaly, Ascites, Proteinuria, Splenomegaly ORPHA:834
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis ORPHA:3327
Hemochromatosis, Type 1
Cirrhosis, Increased serum iron, Hepatocellular carcinoma, Azoospermia, Pleural effusion, Testicu... OMIM:235200
Al Amyloidosis
Hypertrophic cardiomyopathy, Peripheral edema, Hepatomegaly, Howell-Jolly bodies, Abnormality of ... ORPHA:85443
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Leukopenia, Anemia, Neutropenia, Nephrotic syndrome, Enlarged kidney, Neph... OMIM:617303
Gaucher Disease Type 1
Leukopenia, Cirrhosis, Anemia, Pedal edema, Pericardial effusion, Increased circulating antibody ... ORPHA:77259
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Uric acid nephrolithiasis, Crystalluria, Hyperuricemia, Acute kidney injury, Arthritis, Gout, Ren... ORPHA:411543
Immunodeficiency 32B
Abnormal circulating IgG level, Anemia, Monocytopenia, Neutrophilia, Hepatomegaly, Eosinophilia, ... OMIM:226990
Rajab Interstitial Lung Disease With Brain Calcifications 2
Short stature, Hypopituitarism, Hepatosplenomegaly, Hepatic steatosis, Oligohydramnios, Hypertrig... OMIM:619013
Cystinuria
Renal insufficiency, Hyperuricemia, Hematuria, Nephrolithiasis ORPHA:214
Griscelli Syndrome
Leukopenia, Abnormal circulating lipid concentration, Pedal edema, Short stature, Decreased circu... ORPHA:381
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Short stature, Decreased circulating antibody level, Bicuspid aortic valve, Decreased serum creat... OMIM:617744
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Leukopenia, Abnormal liver parenchyma morphology, Anem... ORPHA:64743
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Microvesicular hepatic steatosis, Decreased circulating IgG level... OMIM:613070
Denys-Drash Syndrome
Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome ORPHA:220
Analbuminemia
Elevated circulating transferrin concentration, Oligohydramnios, Edema, Increased LDL cholesterol... OMIM:616000
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hyperalaninemia, Hyperglycinemia, Elevated circulating creatine kinase concentrati... OMIM:619386
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Hyperbilir... OMIM:251880
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... OMIM:613095
Posterior Urethral Valve
Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention... ORPHA:93110
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Cirrhosis, Short stature, Abnormality of the kidney, Hepatocellular carcinoma, ... ORPHA:369
Malaria
Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Peritonitis, Erysipelas, Proteinuria, Renal amyloidosis OMIM:134610
Glycogen Storage Disease Ib
Hyperuricemia, Neutropenia, Short stature, Enlarged kidney, Pancreatitis, Hepatocellular carcinom... OMIM:232220
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Abnormal renal insterstitial morphology, Renal insufficienc... OMIM:614227
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Elevated circulating thyroid-stimulating hormone concentration, Renal dysplasia, ... OMIM:618183
Heme Oxygenase 1 Deficiency
Hematuria, Nephritis, Increased circulating ferritin concentration, Elevated circulating C-reacti... OMIM:614034
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency, Hyperammonemia ORPHA:28
Immunodeficiency 43
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... OMIM:241600
Congenital Enterovirus Infection
Leukopenia, Anemia, Polyhydramnios, Hydrops fetalis, Neutropenia, Abnormal macrophage morphology,... ORPHA:292
Combined Oxidative Phosphorylation Deficiency 5
Abnormal renal tubule morphology, Edema, Hypertrophic cardiomyopathy, Hyperammonemia, Growth dela... OMIM:611719
Congenital Disorder Of Glycosylation, Type Ib
Lymphangiectasis, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Renal cyst, Edema, Hepatomeg... OMIM:602579
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Crusting erythematous dermatitis, Maculop... ORPHA:79147
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Distal 16P11.2 Microdeletion Syndrome
Vesicoureteral reflux, Hyperuricemia, Abnormality of the kidney, Renal agenesis, Proteinuria, Chr... ORPHA:261222
Juvenile Nephropathic Cystinosis
Abnormal urine potassium concentration, Aminoaciduria, Proximal tubulopathy, Renal phosphate wast... ORPHA:411634
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Hydrops fetalis, Chylopericardium, Pleural effusion, Growth delay, Hepatomegaly, As... ORPHA:2414
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Increased blood urea nitrogen, Hyperlipid... OMIM:235400
Schimke Immuno-Osseous Dysplasia
Nephrotic range proteinuria, Impaired T cell function, Bone marrow hypocellularity, Hyperlipidemi... ORPHA:1830
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Neutropenia, Reduced natural killer cell activity, Decreased circulating antibody level, ... ORPHA:540
Hydrops Fetalis
Polyhydramnios, Lymphedema, Pericardial effusion, Abnormality of the kidney, Nonimmune hydrops fe... ORPHA:1041
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Microscopic hematuria ORPHA:79087
Senior-Boichis Syndrome
Abnormal renal insterstitial morphology, Malformation of the hepatic ductal plate, Hepatosplenome... ORPHA:84081
Papillorenal Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Short stature, Stage 5 chronic kidney diseas... OMIM:120330
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Growth delay, Hypotriglyceridemia, Hypocholesterolemia, ... OMIM:246700
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... OMIM:143400
Muckle-Wells Syndrome
Conjunctivitis, Recurrent aphthous stomatitis, Renal insufficiency, Short stature, Elevated circu... OMIM:191900
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1909
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Autoimmune Hepatitis
Increased total bilirubin, Cirrhosis, Fulminant hepatitis, Increased circulating antibody level, ... ORPHA:2137
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Mulibrey Nanism
Nephroblastoma, Hydrops fetalis, Pericardial constriction, Short stature, Myocardial fibrosis, Gr... OMIM:253250
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Reduced natural killer cell activity, Jaundice, Pa... OMIM:603553
Denys-Drash Syndrome
Nephroblastoma, Nephrotic syndrome, Stage 5 chronic kidney disease, Enlarged kidney, Nephropathy,... OMIM:194080
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Pericardial effusion, Polycystic kidney dysplasia, Hepatosple... OMIM:608776
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Reduced renal corti... OMIM:617610
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Nephrocalcinosis, ... OMIM:616026
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Angioedema, Pericardial effusion, Hematuria, Abnormal heart valve morphology, Ple... ORPHA:36412
Bacterial Toxic-Shock Syndrome
Septic arthritis, Myocarditis, Osteomyelitis, Infectious encephalitis, Recurrent urinary tract in... ORPHA:36234
Renal Hypoplasia, Bilateral
Vesicoureteral reflux, Short stature, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria... ORPHA:97362
Hyperlysinuria With Hyperammonemia
Hyperlysinemia, Hyperlysinuria, Dibasicaminoaciduria, Hyperammonemia, Growth delay OMIM:238750
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... OMIM:267700
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level, ... OMIM:615122
Wilson Disease
Aminoaciduria, Pedal edema, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration,... OMIM:277900
Glycogen Storage Disease Ic
Hyperuricemia, Chronic pancreatitis, Hematuria, Stomatitis, Gout, Inflammation of the large intes... OMIM:232240
Dent Disease 1
Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Short stature, Stage 5 chronic kidn... OMIM:300009
Liddle Syndrome
Hypokalemia, Nephropathy, Renal insufficiency ORPHA:526
Galloway-Mowat Syndrome 3
Short stature, Nephrotic syndrome, Stage 5 chronic kidney disease, Glomerular sclerosis, Diffuse ... OMIM:617729
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Abnormal lymph node morphology, Abnormal testis morphology, Hepatosplenome... ORPHA:85450
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Arthritis, Hematuria, Proteinuria, Renal insufficiency ORPHA:375
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Glomerular sclerosis, Increased blood urea nitrogen, Growth delay, Ele... OMIM:223900
Autoinflammatory-Pancytopenia Syndrome
Hepatic fibrosis, Membranoproliferative glomerulonephritis, Pancytopenia, Hepatosplenomegaly, Hem... OMIM:619858
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Impaired renal concentrating ability, Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchlor... OMIM:602522
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatic steatosis, Hepatomegaly, Pancreatitis, Microcytic anemia, Hypoalb... OMIM:618805
Myh9-Related Disease
Nephropathy, Renal insufficiency, Nephritis, Proteinuria ORPHA:182050
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Polyhydramnios, Cirrhosis, Dilated cardiomyopathy, Nonimmune hydrops fetalis, Hepatosplenomegaly,... ORPHA:367
Urofacial Syndrome 2
Vesicoureteral reflux, Recurrent urinary tract infections, Bladder trabeculation, Urinary urgency... OMIM:615112
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas... OMIM:620138
Coach Syndrome 3
Renal tubular atrophy, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal interst... OMIM:619113
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal cyst, Renal insufficiency, Hematuria, Elevated circulating creatine kinase concentration OMIM:611773
Systemic Sclerosis
Osteomyelitis, Acute kidney injury, Abnormality of the kidney, Arthritis, Elevated circulating cr... ORPHA:90291
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypermethioninemia, Cirrhosis, Microvesicular hepatic steatosis, Polyhydramnios, 4-hydroxyphenyla... OMIM:617156
Citrullinemia Type Ii
Hepatic fibrosis, Cerebral edema, Hepatocellular carcinoma, Acute hyperammonemia, Delayed menarch... ORPHA:247585
Cednik Syndrome
Proteinuria, Short stature, Nephrotic syndrome ORPHA:66631
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Polyhydramnios, Splenomegaly, Ventricular septal defect, Pulmonary lymphangiectasia, Hepatospleno... ORPHA:1655
Hinman Syndrome
Vesicoureteral reflux, Recurrent urinary tract infections, Enuresis, Renal insufficiency, Hydrone... ORPHA:84085
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nodular regenerative hyperplasia of liver, Macular edema, Normocytic anemia, Glomerular sclerosis... ORPHA:247691
Primary Hyperoxaluria Type 2
Renal insufficiency, Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, ... ORPHA:93599
Alport Syndrome 1, X-Linked
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Nep... OMIM:301050
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Hydrops fetalis, Portal vein hypoplasia, Portal artery hyperplasia, H... OMIM:619433
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Nephrocalcinosis, Renal insufficiency, Hyperoxaluria OMIM:260000
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Highly elevated creatine kinase, Elevated ci... ORPHA:368
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Hypoalbuminemia ORPHA:1954
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hematuria, Elevated urinary epinephrine, Glomerular sclerosis, Elevated urinary dopamine, Hyperca... ORPHA:276621
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Edema, Dehydration, Abnormal circulating prote... ORPHA:103910
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hyperuricemia ORPHA:3222
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Urinary bladder sphincter dysfunction, Elevated circulating alpha-fetoprotein concentration, Elev... ORPHA:64753
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Neutropenia, Hepatitis, Lymphadenopathy, Increased ci... ORPHA:158061
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hyperammonemia, Growth delay, Renal insufficiency, Pancreatitis, Renal tubular dysfunction ORPHA:289916
Acrorenal Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Abnormal renal morphology ORPHA:971
Trichohepatoenteric Syndrome 1
Polyhydramnios, Abnormality of iron homeostasis, Galactosuria, Hepatomegaly, Renal cortical micro... OMIM:222470
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Portal inflammation, Portal fibrosis, Intrahepatic cholestasis, Bile duct pr... OMIM:602347
Aa Amyloidosis
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Vesicoureteral reflux, Hydronephrosis, Ventricular septal defect, Lymphedema, Pericardial effusio... OMIM:235510
Mu-Heavy Chain Disease
Anemia, Increased circulating antibody level, Abnormal B cell count, Nephropathy, Lymphadenopathy... ORPHA:100024
Gracile Bone Dysplasia
Asplenia, Short stature, Hypocalcemia, Ascites, Hypoplastic spleen, Micropenis OMIM:602361
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho... OMIM:619313
Imerslund-Grasbeck Syndrome 1
Proteinuria, Microscopic hematuria OMIM:261100
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Hypercalcemia ORPHA:33111
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Hyperkalemia, Elevated creatine kinase after exercise, Growth delay, Myoglob... ORPHA:57
Cirrhotic Cardiomyopathy
Abnormal circulating A-type atrial natriuretic peptide concentration, Cirrhosis, Pulmonary edema,... ORPHA:57777
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Polyhydramnios, Splenomegaly, Ventricular septal defect, Lymphedema, Thyroid lymphangiectasia, Pu... OMIM:235255
Galactosemia
Cirrhosis, Hypergalactosemia, Increased level of galactitol in plasma, Jaundice, Abnormal erythro... ORPHA:352
Eosinophilic Gastroenteritis
Anemia, Edema, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia,... ORPHA:2070
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Short stature, Proteinuria, Nephrotic syndrome ORPHA:1192
Familial Atrial Myxoma
Pedal edema, Bacterial endocarditis, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis... ORPHA:615
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Hypomagnesemia 2, Renal
Hypokalemia, Hypocalciuria, Renal magnesium wasting, Renal insufficiency, Hypomagnesemia OMIM:154020
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Short stature, Nephrotic syndrome, Mucopolysacchariduria, Decreased c... OMIM:215250
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Elevated creatine kinase after exercise, Sup... ORPHA:284426
Schimke Immunoosseous Dysplasia
Anemia, Abnormal T cell morphology, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:242900
Pediatric Systemic Lupus Erythematosus
Leukopenia, Nephrotic syndrome, Pericardial effusion, Microangiopathic hemolytic anemia, Hematuri... ORPHA:93552
Genetic Recurrent Myoglobinuria
Hyperphosphatemia, Acute kidney injury, Exercise-induced myoglobinuria, Highly elevated creatine ... ORPHA:99845
Senior-Loken Syndrome
Stage 5 chronic kidney disease, Nephronophthisis, Short stature, Chronic kidney disease ORPHA:3156
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Aminoaciduria, Renal tubular acidosis, Ventricular septal defect, Glycosuria, Jaundice, Nephropat... OMIM:613404
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Proximal tubulopathy, Short stature, Hypophosphatemia, Hypophosphatemic ... OMIM:300554
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Renal insufficiency, Hyperc... ORPHA:99879
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Proximal tubulopathy, Hepatic fibrosis, Decreased circulating IgG level, Nephroti... OMIM:212065
Renal Cysts And Diabetes Syndrome
Hyperuricemia, Stage 5 chronic kidney disease, Abnormality of the kidney, Glycosuria, Unilateral ... OMIM:137920
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Hyperuricosuria, Stage 5 chronic kidney disease, Renal sodium wasting, G... ORPHA:3337
Cystinosis
Aminoaciduria, Short stature, Hypophosphatemia, Hypokalemia, Nephropathy, Delayed puberty, Protei... ORPHA:213
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Left ventricular hypertrophy, Elevated circulating creatine kinase concentrat... OMIM:617713
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Jaundice, Nonimmune hydrops fetalis, Elevated circulating alpha-fetoprotein concentrat... OMIM:617049
Multiple Myeloma
Anemia, Nephrotic syndrome, Acute kidney injury, Decreased circulating antibody level, Abnormalit... ORPHA:29073
Avian Influenza
Conjunctivitis, Myelitis, Acute kidney injury, Hepatitis, Elevated circulating creatine kinase co... ORPHA:454836
Systemic Lupus Erythematosus
Malar rash, Arthritis, Nephritis, Pericarditis, Lupus nephritis OMIM:152700
Klippel-Trénaunay Syndrome
Hydrops fetalis, Hematuria, Atrial septal defect, Edema, Hepatomegaly, Ascites, Abnormal tricuspi... ORPHA:90308
46,Xy Sex Reversal 4
Renal dysplasia, Recurrent otitis media, Increased blood urea nitrogen, Ureteropelvic junction ob... OMIM:154230
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Pleural effusion, Hypertrophic cardio... OMIM:616897
Congenital Analbuminemia
Pedal edema, Increased circulating antibody level, Increased alpha-globulin, Oligohydramnios, Ede... ORPHA:86816
Senior-Loken Syndrome 8
Stage 5 chronic kidney disease, Nephronophthisis, Global glomerulosclerosis, Glomerular subepithe... OMIM:616307
Joubert Syndrome 4
Stage 5 chronic kidney disease, Renal insufficiency, Nephronophthisis, Abnormal renal medulla mor... OMIM:609583
Caroli Disease
Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Liver abscess, Polycystic ki... ORPHA:53035
Dyschondrosteosis-Nephritis Syndrome
Short stature, Hematuria, Mesomelic short stature, Nephropathy, Proteinuria, Intrauterine growth ... ORPHA:1765
Mitochondrial Complex I Deficiency, Nuclear Type 39
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Oligohydramnios, Hypertro... OMIM:620135
Sclerosing Cholangitis, Neonatal
Vesicoureteral reflux, Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Acholic st... OMIM:617394
Amyloidosis, Finnish Type
Renal insufficiency, Nephrotic syndrome OMIM:105120
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Crusting erythematous dermatitis, Eczema, Abnormal blood ion concentr... ORPHA:37042
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Patent foramen ovale, Leukopenia, Anemia, Decreased circulating IgG level, Nephrotic syndrome, En... ORPHA:505248
Hypomagnesemia 3, Renal
Hyperuricemia, Hypocitraturia, Hypercitraturia, Recurrent urinary tract infections, Hypermagnesiu... OMIM:248250
Xfe Progeroid Syndrome
Severe short stature, Renal insufficiency, Proteinuria, Hypoalbuminemia OMIM:610965
Ethanolaminosis
Cardiomegaly OMIM:227150
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Apparent Mineralocorticoid Excess
Short stature, Decreased circulating renin level, Renal sodium wasting, Hypokalemia, Nephrocalcin... ORPHA:320
Multicentric Carpotarsal Osteolysis Syndrome
Stage 5 chronic kidney disease, Renal insufficiency, Bilateral renal atrophy, Proteinuria OMIM:166300
Nephronophthisis 16
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Nephronophthisis, R... OMIM:615382
Secondary Intestinal Lymphangiectasia
Cirrhosis, Decreased prealbumin level, Decreased circulating total IgM, Decreased circulating ant... ORPHA:90363
Relapsing Fever
Increased total bilirubin, Acute kidney injury, Hematuria, Elevated circulating C-reactive protei... ORPHA:91547
Complement Factor I Deficiency
Septic arthritis, Recurrent urinary tract infections, Pyelonephritis, Recurrent sinusitis, Recurr... OMIM:610984
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Ascites, Hepatomegaly ORPHA:2198
Mpi-Cdg
Hepatic fibrosis, Edema, Hepatomegaly, Portal hypertension, Hypoalbuminemia ORPHA:79319
Nephronophthisis 3
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... OMIM:604387
Nephronophthisis 1
Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst... OMIM:256100
Galloway-Mowat Syndrome 1
Short stature, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Renal insufficiency,... OMIM:251300
Bardet-Biedl Syndrome 19
Renal hypoplasia, Renal insufficiency, Hydronephrosis OMIM:615996
Megabladder, Congenital
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Fetal megacystis, Multiple glomerular cysts OMIM:618719
S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Cardiomyopathy, Hydrops fetalis, Abnormality of the liver, Hyperhomocystinemi... ORPHA:88618
Glycogen Storage Disease Vii
Increased total bilirubin, Exercise-induced myoglobinuria, Hyperuricemia, Gout OMIM:232800
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Pseudo-Torch Syndrome 3
Lymphadenitis, Anemia, Congenital thrombocytopenia, Acute kidney injury, Increased circulating fe... OMIM:618886
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Gout, Decreased glomerular filtratio... OMIM:618061
Hereditary Pheochromocytoma-Paraganglioma
Renal cell carcinoma, Elevated urinary epinephrine, Hematuria, Glomerular sclerosis, Elevated uri... ORPHA:29072
Cirrhosis, Familial
Cirrhosis, Biliary cirrhosis, Fulminant hepatitis, Jaundice, Micronodular cirrhosis, Increased le... OMIM:215600
Chylous Ascites
Ascites, Pancreatitis, Lymphedema ORPHA:1160
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Short stature, Lymphadenopathy, Bone-marrow foam cells, Hepatomegaly, Asc... OMIM:257200
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency ORPHA:254857
Coach Syndrome 2
Elevated circulating creatinine concentration, Hyperechogenic kidneys OMIM:619111
Alagille Syndrome 2
Renal insufficiency, Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Proteinuria OMIM:610205
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:98895
Wolman Disease
Anemia, Bone-marrow foam cells, Hepatomegaly, Growth delay, Ascites, Splenomegaly ORPHA:75233
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Conjunctivitis, Short stature, Decreased circulating ceruloplasmin concentration, Decreased circu... OMIM:242150
Alg6-Cdg
Jaundice, Decreased LDL cholesterol concentration, Abnormality of the liver, Hypoalbuminemia ORPHA:79320
Leiomyomatosis, Diffuse, With Alport Syndrome
Glomerular basement membrane lamellation, Stage 5 chronic kidney disease, Hematuria, Abnormal ren... OMIM:308940
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Pedal edema, Pulmonary lymphangiectasia, Mild postnatal growth retardation, Nonim... OMIM:265300
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal tubular atrophy, Nephrotic syndrome, Decreased glomerular filtration rate, Proteinuria, Ren... OMIM:614748
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Polyhydramnios, Hydrops fetalis, Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Nephronophthisis 18
Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Thickened gl... OMIM:615862
Glycogen Storage Disease Vi
Hypercholesterolemia, Increased hepatic glycogen content, Hepatomegaly, Hyperlipidemia, Hypertrig... OMIM:232700
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Hepatomegaly, Portal hyperte... OMIM:619463
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Dopamine Beta-Hydroxylase Deficiency
Rhinitis, Nocturia, Elevated urinary dopamine, Increased blood urea nitrogen, Elevated circulatin... ORPHA:230
Retinitis Pigmentosa 59
Renal insufficiency, Micropenis, Intrauterine growth retardation OMIM:613861
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Acute kidney injury, Hemoglobinuria, Glycosuria, Unconjugated hyperbil... ORPHA:447
Lysinuric Protein Intolerance
Hyperlysinuria, Ornithinuria, Hepatosplenomegaly, Glomerulonephritis, Hepatomegaly, Hypercholeste... ORPHA:470
Orthostatic Hypotension 1
Increased blood urea nitrogen, Hypomagnesemia, Nocturia OMIM:223360
Refractory Celiac Disease
Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ... ORPHA:398063
Lymphatic Malformation 7
Anemia, Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial sept... OMIM:617300
Aggressive Systemic Mastocytosis
Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Incre... ORPHA:98850
Lymphatic Malformation 6
Polyhydramnios, Short stature, Lymphedema, Nonimmune hydrops fetalis, Atrial septal defect, Hydro... OMIM:616843
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Elevated circulating creatine kinase concentration, Hepatic calcification, Hepat... OMIM:608836
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Microvesicular hepatic steatosis, Decreased plasma carnitine, Dicarboxylic acidur... OMIM:212140
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Arthritis, Myositis, Pustule, Proteinuria, Increased inflammatory response, Acne ORPHA:69126
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Highly elevated creatine kinase, Exercise-induced myoglobinuria ORPHA:352479
Nephrogenic Diabetes Insipidus
Hyposthenuria, Enuresis nocturna, Short stature, Hydroureter, Growth delay, Renal insufficiency, ... ORPHA:223
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal duplication, Aplasia of the bladder, Renal dysplasia, Glomerular sclerosis, Elevated circul... ORPHA:158684
Hennekam Syndrome
Hydrops fetalis, Decreased circulating antibody level, Pericardial effusion, Lymphedema, Pulmonar... ORPHA:2136
Alg12-Cdg
Abnormal circulating IgG level, Patent foramen ovale, Polyhydramnios, Abnormal circulating IgM le... ORPHA:79324
Acquired Ichthyosis
Renal insufficiency, Recurrent skin infections ORPHA:454
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Myoglobinuria, Hyperbilirubinemia ORPHA:713
Plasminogen Deficiency, Type I
Conjunctivitis, Periodontitis, Nephritis, Decreased level of plasminogen, Nephrolithiasis OMIM:217090
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Hypermagnesiuria, Renal calci... OMIM:248190
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration... OMIM:255120
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatosplenomegaly, Hepatoblastoma, Reduced renal corticomedullary differenti... ORPHA:731
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Proteinuria, Hematuria ORPHA:90060
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Tempi Syndrome
Increased hematocrit, Abnormality of the kidney, Polycythemia, Transudative pleural effusion, Asc... ORPHA:284227
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Elevated circulating long chain fatty acid concentration, Hypospadias, Albuminuria... OMIM:214100
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration OMIM:616239
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal natural killer cell count, Anemia, Panhypogammaglobulinemia, T lymphocytopenia, Urinary ... ORPHA:79124
Birk-Landau-Perez Syndrome
Tubulointerstitial nephritis, Stage 3 chronic kidney disease, Increased circulating creatine kina... OMIM:617595
Dyschondrosteosis And Nephritis
Mesomelic short stature, Nephritis OMIM:127350
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Pyelonephritis, Nephritis, Renal dysplasia OMIM:314300
Cockayne Syndrome Type 1
Conjunctivitis, Uveitis, Increased blood urea nitrogen, Proteinuria, Renal insufficiency, Postnat... ORPHA:90321
Pseudo-Torch Syndrome 2
Ascites, Secundum atrial septal defect, Pleural effusion, Hepatomegaly, Abnormal renal corticomed... OMIM:617397
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Exercise-induced myoglobinuria, Decreased plasma ca... OMIM:201475
Nephrolithiasis, Calcium Oxalate
Acute kidney injury, Calcium oxalate nephrolithiasis, Hyperoxaluria, Ureteropelvic junction obstr... OMIM:167030
Nephronophthisis 4
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Gr... OMIM:606966
Jeune Syndrome
Nephronophthisis, Nephropathy, Renal insufficiency, Short stature ORPHA:474
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:119
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia, Postnatal growth retardation OMIM:615361
Sickle Cell Anemia
Hemolytic anemia, Unconjugated hyperbilirubinemia, Increased mean corpuscular volume, Reticulocyt... ORPHA:232
Alstrom Syndrome
Tubulointerstitial nephritis, Hyperuricemia, Short stature, Chronic active hepatitis, Nephritis, ... OMIM:203800
Pseudomyxoma Peritonei
Ascites, Lymphadenopathy, Abnormality of the peritoneum ORPHA:26790
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Hepatit... ORPHA:186
Alg8-Cdg
Anemia, Hydrops fetalis, Oligohydramnios, Edema, Thrombocytopenia, Hyponatremia, Ascites, Intraut... ORPHA:79325
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Tubulointerstitial nephritis, Cardiomyopathy, Elevated circulating acylcarnitine concentration, D... ORPHA:228308
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Skin rash, Decreased urine output, Hyperbilirubinemia, Elevated circulating ... ORPHA:542323
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration OMIM:300559
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrotic syndrome, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Distal renal tubular ... OMIM:146255
Ovarian Hyperstimulation Syndrome
Ascites OMIM:608115
Immunodeficiency 91 And Hyperinflammation
Hemolytic-uremic syndrome, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Recurren... OMIM:619644
Amoebiasis Due To Entamoeba Histolytica
Abnormal pericardium morphology, Anemia, Pleural empyema, Liver abscess, Pleural effusion, Constr... ORPHA:67
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria, Hypoalbuminemia, Intrauterine growth retardation, Elevated circulating creatine ki... OMIM:619055
Mucopolysaccharidosis Type 7
Hydrops fetalis, Lymphedema, Hepatitis, Mucopolysacchariduria, Ascites, Splenomegaly ORPHA:584
Laurence-Moon Syndrome
Renal insufficiency, Hypoplasia of penis, Displacement of the urethral meatus, Short stature ORPHA:2377
Ochoa Syndrome
Urinary incontinence, Vesicoureteral reflux, Recurrent urinary tract infections, Renal insufficie... ORPHA:2704
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Pedal edema, Abnormal mean co... ORPHA:86839
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, Short stature, Unilateral renal agenesis, Renal hypoplasia, Chronic kidney disease OMIM:617661
Familial Renal Glucosuria
Recurrent urinary tract infections, Glycosuria, Moderate postnatal growth retardation, Nephropath... ORPHA:69076
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Hemog... OMIM:194380
Dengue Fever
Leukopenia, Hypoproteinemia, Hepatomegaly, Ascites, Thrombocytopenia ORPHA:99828
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia, Renal insufficiency OMIM:177200
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Tubulointerstitial nephritis, Proteinuria, Hematuria, Short stature OMIM:616901
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Unconjugated hyperbilirubinemia, Hemoglobinuria, Jaundice, Fava bean-induced hemoly... OMIM:300908
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Hyperammonemia, Pancreatitis ORPHA:79312
Primary Sclerosing Cholangitis
Hepatocellular carcinoma, Cholangiocarcinoma, Hepatosplenomegaly, Pleural effusion, Hepatomegaly,... ORPHA:171
Primary Hyperoxaluria Type 1
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Dysuria, Nephrocalcinosis, Ca... ORPHA:93598
Carnitine Palmitoyltransferase Ii Deficiency
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Decreased plasma ... ORPHA:157
Desmoplastic Small Round Cell Tumor
Anemia, Neoplasm of the pancreas, Abnormality of the peritoneum, Lymphadenopathy, Hepatomegaly, M... ORPHA:83469
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchloriduria, Increased urinary potassium, H... OMIM:613090
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Vesicoureteral reflux, Recurrent urinary tract infections, Neurogenic bladder, Hypospadias, Stage... OMIM:191800
Hyperprolinemia Type 2
Prolinuria, Hyperalaninemia, Hyperglycinemia, Increased urine alpha-ketoglutarate concentration, ... ORPHA:79101
Insulin-Resistance Syndrome Type B
Leukopenia, Abnormal circulating lipid concentration, Biliary cirrhosis, Enlarged polycystic ovar... ORPHA:2298
Glucose-Galactose Malabsorption
Hematuria, Hypercalcemia, Renal insufficiency, Hypernatremia, Nephrolithiasis ORPHA:35710
Immunodeficiency 87 And Autoimmunity
Atrioventricular canal defect, Abnormal lymphocyte proliferation, Decreased proportion of CD4-pos... OMIM:619573
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple small medullary renal cysts, Hypophosphatemia, Parathormone-independent increased renal ... OMIM:600740
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrops fetalis, Predominantly lower limb lymphedema, Hydrocele testis, Pleural effusion, Palpebr... ORPHA:69735
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Acne, Seborrheic dermatitis, Hypoalbuminemia OMIM:614441
Cryoglobulinemic Vasculitis
Glomerulopathy, Arthritis, Keratoconjunctivitis sicca, Hematuria, Viral hepatitis, Proteinuria, R... ORPHA:91138
Combined Oxidative Phosphorylation Deficiency 37
3-Methylglutaconic aciduria, Hyperalaninemia, Hypertrophic cardiomyopathy, Bile duct proliferatio... OMIM:618329
Ovarian Fibroma
Peritonitis, Abnormality of the ovary, Pleural effusion, Ascites, Mesenteric cyst, Ovarian fibroma ORPHA:314473
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Glycosuria, Moderate albuminuria, Abnormality of the upper urinary tract, Intrauterine... ORPHA:99885
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Peripheral edema, Hypoalbuminemia ORPHA:2494
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency, Hyperammonemia, Pancreatitis ORPHA:27
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Simple Cryoglobulinemia
Nephrotic syndrome, Abnormality of the kidney, Arthritis, Membranoproliferative glomerulonephriti... ORPHA:91139
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Renal insufficiency OMIM:300653
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia OMIM:616267
Legionnaires Disease
Endocarditis, Hepatitis, Jaundice, Pancreatitis, Hematuria, Lymphopenia, Pericarditis, Lymphadeno... ORPHA:549
Renal Coloboma Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal ins... ORPHA:1475
Primary Hyperoxaluria Type 3
Pollakisuria, Calcium oxalate nephrolithiasis, Dysuria, Abnormality of urine homeostasis, Hematur... ORPHA:93600
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatocellular carcinoma, Elevated circulating creatine kinase concentration, Hepatic steatosis, ... ORPHA:370
Proximal Renal Tubular Acidosis
Aminoaciduria, Hyperuricosuria, Short stature, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting... ORPHA:47159
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Hydrops fetalis, Short stature, Polycystic kidney dysplasia, Renal cyst, Hyposp... OMIM:614091
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Renal artery stenosis, Proteinuria OMIM:209010
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Periodontitis, Moderate albuminuria, Growth delay, Proportionate short stature, Hydronephrosis OMIM:619269
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Elevated circulating acylcarnitine concentration, Cardiomyopathy, Decrea... ORPHA:228305
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Pericardial effusion, Ventricular se... OMIM:115197
Necrotizing Enterocolitis
Peritonitis, Edema, Abnormal heart morphology, Leukocytosis, Hyponatremia, Ascites, Thrombocytope... ORPHA:391673
Immunodeficiency 22
Anemia, Decreased circulating total IgM, Pericarditis, Decreased circulating IgE, Decreased circu... OMIM:615758
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Enlarged polycystic ovaries, Anterior hypo... ORPHA:91348
Goodpasture Syndrome
Glomerular crescent formation, Cylindruria, Glomerulonephritis, Erythrocyte cylindruria, Increase... OMIM:233450
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Renal insufficiency, Hypocalcemia, Short stature ORPHA:1563
Glycogen Storage Disease Xii
Reduced haptoglobin level, Anemia, Short stature, Hemoglobinuria, Hyperbilirubinemia, Normocytic ... OMIM:611881
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Hyperammonemia, Hepat... OMIM:600649
Classic Galactosemia
Jaundice, Abnormal erythrocyte enzyme level, Delayed puberty, Hepatomegaly, Cryptorchidism, Ascites ORPHA:79239
Biliary, Renal, Neurologic, And Skeletal Syndrome
Atrioventricular canal defect, Biliary cirrhosis, Polyhydramnios, Unbalanced atrioventricular can... OMIM:619534
Liver Disease, Severe Congenital
Subvalvular aortic stenosis, Aminoaciduria, Portal inflammation, Elevated circulating alpha-fetop... OMIM:619991
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine, Proteinuria, Hypercalcemia OMIM:171420
Maternal Uniparental Disomy Of Chromosome 2
Renal dysplasia, Elevated amniotic fluid alpha-fetoprotein, Hypospadias, Renal insufficiency, Int... ORPHA:96179
Pierson Syndrome
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Hyp... OMIM:609049
Familial Mediterranean Fever
Pedal edema, Nephrotic syndrome, Ascites, Peritonitis, Pancreatitis, Pericarditis, Nephropathy, L... ORPHA:342
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Elevated circulating creatine kina... ORPHA:42
Hepatocellular Carcinoma
Hemobilia, Pedal edema, Anemia, Abnormality of the liver, Liver abscess, Hepatic necrosis, Hypoka... ORPHA:88673
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hemolytic-uremic syndrome, Methylmalonic aciduria, Cystathioninemia, Cystathioninuria, Methylmalo... OMIM:277400
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalcemia, Intrauterine growth retardation, Micropenis, Hypercalciuria, Postnata... OMIM:614732
Argininosuccinic Aciduria
Aminoaciduria, Short stature, Oroticaciduria, Hyperammonemia, Hypoargininemia, Hyperglutaminemia ORPHA:23
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Acute kidney injury, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Hypona... ORPHA:90038
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis, Short stature ORPHA:281090
Primary Hepatic Neuroendocrine Carcinoma
Intermittent jaundice, Chronic noninfectious lymphadenopathy, Hepatic cysts, Neoplasm of the live... ORPHA:100085
Lysosomal Acid Lipase Deficiency
Abnormal urine potassium concentration, Hepatic fibrosis, Microvesicular hepatic steatosis, Anemi... ORPHA:275761
Structural Heart Defects And Renal Anomalies Syndrome
Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Renal cyst, Partial anomalou... OMIM:617478
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Stage 5 chronic kidney disease, Proteinuria OMIM:219900
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hyperalaninemia, Hypospadias, Increased serum pyruvate, Mild proteinuria, Growth delay, Renal ins... OMIM:619147
Osteopetrosis, Autosomal Recessive 5
Anemia, Short stature, Hyperbilirubinemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosple... OMIM:259720
Gaucher Disease, Perinatal Lethal
Polyhydramnios, Anemia, Ascites, Nonimmune hydrops fetalis, Hepatosplenomegaly, Hepatomegaly, Int... OMIM:608013
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Pericardial effusion, Enlarged kidney, Pleural effusion, Biventricular hypertrop... OMIM:261740
Peripheral Primitive Neuroectodermal Tumor
Anemia, Pelvic mass, Jaundice, Neoplasm of the pancreas, Elevated circulating alpha-fetoprotein c... ORPHA:370348
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria ORPHA:859
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Short stature, Proteinuria ORPHA:2715
Pearson Syndrome
Reticulocytosis, Lacticaciduria, Hepatic steatosis, Bone marrow hypocellularity, Hepatomegaly, De... ORPHA:699
Acute Interstitial Pneumonia
Reduced hematocrit, Pericardial effusion, Pleural effusion, Lymphadenopathy, Elevated circulating... ORPHA:79126
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Short stature, Nephritis, Renal cyst, Proteinuria, Renal insufficiency, Conjugated hyperbilirubin... OMIM:208500
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Hyperphosphatemia, Anuria, Acute tubulointerstitial nephritis, Acut... ORPHA:340
Congenital Sialidosis Type 2
Abnormality of the kidney, Hepatosplenomegaly, Edema, Abnormal heart morphology, Hepatomegaly, As... ORPHA:93400
Lymphangioleiomyomatosis
Renal angiomyolipoma, Lymphedema, Hematuria, Chylopericardium, Renal neoplasm, Abnormal urinary c... ORPHA:538
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Abnormal blood ion c... ORPHA:411629
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased C-peptide level, Increased circulating free fatty acid level, Decreased plasma carnitin... ORPHA:71212
Distal Renal Tubular Acidosis
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Short stature, Hypermagnesiuria, Hyperphosph... ORPHA:18
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Hyperbilirubinemia, Acholic stools, C... OMIM:615710
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Hyperglycinemia, Methylmalonic acidemia, Stage 5 chronic kidney dis... OMIM:251000
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Nonimmune hydrops fetalis, Elevated circulating creatine kinase concentration, Cardiomega... OMIM:618838
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Cholecystitis, Hepatomegaly, Portal hypertension, Ascites, Peritonitis, Sple... ORPHA:131
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Short stature, Proteinuria ORPHA:1307
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Enlarged kidney, Polysplenia, Cystic renal dysplasia, Pancreatic fibrosis, Hepa... OMIM:200995
Marburg Hemorrhagic Fever
Leukopenia, Orchitis, Increased circulating antibody level, Hypokalemia, Jaundice, Reticulocytosi... ORPHA:99826
Poems Syndrome
Increased circulating prolactin concentration, Pericardial effusion, Increased circulating antibo... ORPHA:2905
Renal Agenesis
Ureteral agenesis, Renal insufficiency, Bilateral renal agenesis, Renal agenesis, Unilateral rena... ORPHA:411709
Cystinosis, Nephropathic
Reduced blood urea nitrogen, Aminoaciduria, Hyperphosphaturia, Decreased plasma carnitine, Hypoph... OMIM:219800
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Scleritis, Mild proteinuria, Renal interstitial edema, Renal neutrophilic tubuliti... ORPHA:91500
Atresia Of Urethra
Vesicoureteral reflux, Renal dysplasia, Bladder fistula, Hydroureter, Recurrent urinary tract inf... ORPHA:105
Gaucher Disease Type 3
Mitral valve calcification, Anemia, Hydrops fetalis, Pericardial effusion, Increased circulating ... ORPHA:77261
Majeed Syndrome
Glomerulopathy, Osteomyelitis, Inflammatory abnormality of the skin, Synovitis, Pustule, Abnormal... ORPHA:77297
Gitelman Syndrome
Tubulointerstitial nephritis, Urinary incontinence, Renal tubular acidosis, Parathyroid adenoma, ... ORPHA:358
Wild Type Attr Amyloidosis
Pedal edema, Pulmonary edema, Nephrotic syndrome, Pleural effusion, Hypertrophic cardiomyopathy, ... ORPHA:330001
Congenital Anomalies Of Kidney And Urinary Tract 1
Stage 5 chronic kidney disease, Vesicoureteral reflux, Ureteropelvic junction obstruction OMIM:610805
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Anemia, Renal tubular acidosis, Short stature, Hepatocellular adenom... ORPHA:264580
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Nephrotic syndrome, Arthritis... OMIM:615559
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Anemia, Renal tubular acidosis, Short stature, Hepatocellular adenom... ORPHA:79240
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Hypouricemia, Renal, 2
Nephrolithiasis, Hypouricemia OMIM:612076
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Short stature, Hematuria, Elevated circulating creatine ki... OMIM:185070
Mandibuloacral Dysplasia Progeroid Syndrome
Patent foramen ovale, Short stature, Left ventricular hypertrophy, Macrovesicular hepatic steatos... OMIM:619127
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Proteinuria, Thrombocyt... OMIM:603585
Short-Rib Thoracic Dysplasia 12
Patent foramen ovale, Polyhydramnios, Ventricular septal defect, Periportal fibrosis, Cystic rena... OMIM:269860
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Hyperuricemia, Acute kidney injury, Renal cell carc... ORPHA:93111
Intrahepatic Cholestasis Of Pregnancy
Abnormal pineal melatonin secretion, Abnormality of the pancreas, Jaundice, Hyperbilirubinemia, C... ORPHA:69665
Melas
Recurrent pancreatitis, Proximal tubulopathy, Anemia, Concentric hypertrophic cardiomyopathy, Sho... ORPHA:550
Prune Belly Syndrome
Urogenital sinus anomaly, Vesicoureteral reflux, Multicystic kidney dysplasia, Recurrent urinary ... ORPHA:2970
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis OMIM:102700
Ovarian Fibrothecoma
Peritonitis, Abnormality of the ovary, Pleural effusion, Ascites, Ovarian fibroma ORPHA:314478
Abetalipoproteinemia
Hepatic fibrosis, Decreased LDL cholesterol concentration, Cirrhosis, Anemia, Hyperbilirubinemia,... ORPHA:14
Microscopic Polyangiitis
Glomerulopathy, Skin rash, Arthritis, Peritonitis, Hematuria, Uveitis, Pericarditis, Sinusitis, O... ORPHA:727
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate, Proteinur... ORPHA:488627
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Hyperphosphaturia, Proteinuria, Renal Fanconi syndrome, Renal tubular ... ORPHA:436271
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cirrhosis, Anemia, Short stature, Recurrent urinary tract infections, Unconjugated hyperbilirubin... OMIM:613658
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephroblastoma, Nephropathy, Renal insufficiency, Hypospadias OMIM:194072
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis, Postnatal growth retardation OMIM:617219
Fabry Disease
Anemia, Lymphedema, Left ventricular hypertrophy, Ventricular septal hypertrophy, Delayed puberty... OMIM:301500
Lymphedema-Distichiasis Syndrome
Tubulointerstitial nephritis, Glomerulopathy, Renal duplication, Conjunctivitis, Recurrent urinar... ORPHA:33001
Eosinophilic Granulomatosis With Polyangiitis
Tubulointerstitial nephritis, Glomerulopathy, Endocarditis, Skin rash, Arthritis, Hematuria, Myos... ORPHA:183
Cutis Laxa, Autosomal Recessive, Type Ic
Patent foramen ovale, Hypoplasia of the thymus, Multiple bladder diverticula, Accessory spleen, G... OMIM:613177
Helix Syndrome
Hypokalemia, Hypermagnesemia, Polyuria, Hypocalciuria, Renal insufficiency, Nephrolithiasis OMIM:617671
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Recurrent otitis media, Multiple bladder diverticula, Proteinuria, Intrauterine growth retardatio... ORPHA:2728
Attrv30M Amyloidosis
Cardiomegaly, Nephropathy, Abnormal renal physiology, Cardiomyopathy ORPHA:85447
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Abnormal circulating fatty-acid concentration, Hypophosphatemic rickets, Proteinuria,... ORPHA:263455
Malignant Peritoneal Mesothelioma
Pedal edema, Peritonitis, Ascites ORPHA:168811
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Infectious encephalitis, Nephrotic syndrome, Hepatitis, Skin rash, ... ORPHA:139402
Acute Bilirubin Encephalopathy
Hemolytic anemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hypernatremia, Hypoal... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hypernatremia, Hypoal... ORPHA:529808
Late-Onset Familial Hypoaldosteronism
Renal sodium wasting, Hyperkalemia, Increased circulating renin level, Hyponatremia, Postnatal gr... ORPHA:556037
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Hydrops fetalis, Dilated cardiomyopathy, Elevat... OMIM:609015
Galloway-Mowat Syndrome
Short stature, Nephrotic syndrome, Nephropathy, Proteinuria, Intrauterine growth retardation ORPHA:2065
Lymphedema-Hypoparathyroidism Syndrome
Nephropathy, Renal insufficiency, Short stature OMIM:247410
Alagille Syndrome 1
Vesicoureteral reflux, Hypertriglyceridemia, Multiple small medullary renal cysts, Cirrhosis, Ren... OMIM:118450
Vipoma
Intermittent jaundice, Primary hyperparathyroidism, Extrahepatic cholestasis, Increased circulati... ORPHA:97282
Ddost-Cdg
Nephrotic range proteinuria, Short stature ORPHA:300536
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Pulmonary edema, Pleural effusion, Increas... ORPHA:64739
Perlman Syndrome
Nephroblastoma, Polyhydramnios, Renal hamartoma, Edema, Nephrogenic rest, Cryptorchidism, Viscero... OMIM:267000
Ppoma
Intermittent jaundice, Extrahepatic cholestasis, Increased circulating prolactin concentration, P... ORPHA:97278
Nephronophthisis 11
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubular base... OMIM:613550
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency OMIM:173900
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Hypocalcemia, Unilateral ren... ORPHA:2237
Congenital Disorder Of Glycosylation, Type Iit
Urinary incontinence, Short stature, Decreased serum creatinine, Decreased HDL cholesterol concen... OMIM:618885
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomega... OMIM:619051
Hereditary Fructose Intolerance
Hyperuricemia, Hypophosphatemia, Hypermagnesemia, Growth delay, Renal insufficiency, Chronic kidn... ORPHA:469
Rhyns Syndrome
Nephronophthisis, Renal insufficiency, Short stature, Chronic kidney disease OMIM:602152
Farber Disease
Hepatic fibrosis, Anemia, Hydrops fetalis, Short stature, Hepatosplenomegaly, Lymphadenopathy, Jo... ORPHA:333
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria, Growth delay OMIM:231530
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Anemia, Decreased plasma carnitine, Decreased serum iron, Dilated cardiomyopathy, Delayed puberty... ORPHA:89842
Grfoma
Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the thymus, Increased circulating pr... ORPHA:97261
Ogden Syndrome
Secundum atrial septal defect, Global glomerulosclerosis, Thrombocytopenia, Postnatal growth reta... OMIM:300855
Phosphoribosylpyrophosphate Synthetase Superactivity
Urolithiasis, Uric acid nephrolithiasis, Hyperuricemia, Short stature, Gout, Hypospadias, Renal i... OMIM:300661
Lymphatic Filariasis
Lymphadenitis, Hypereosinophilia, Lymphangiectasis, Vaginal hydrocele, Nephrotic syndrome, Lymphe... ORPHA:2035
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Hyperuricemia, Enterocolitis, Periodontitis, Short stature, Stage 5 chronic... ORPHA:79259
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Proteinuria, Renal Fanconi syndrome, Renal tubular ... OMIM:220110
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly, Heparan sulfate excretio... OMIM:252920
Crimean-Congo Hemorrhagic Fever
Hemoperitoneum, Pericardial effusion, Elevated circulating creatine kinase concentration, Parotit... ORPHA:99827
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormal renal cortex morphology, Abnormality of the liver, Abnormality of the kidney, Hyperbilir... ORPHA:464321
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration, Mild proteinuria OMIM:619685
Renal Hypodysplasia/Aplasia 1
Proteinuria, Bilateral renal agenesis, Renal dysplasia OMIM:191830
Adams-Oliver Syndrome
Leukopenia, Cirrhosis, Thrombocytopenia, Abnormal pulmonary valve morphology, Ascites, Portal hyp... ORPHA:974
Smith-Lemli-Opitz Syndrome
Hepatic steatosis, Hypertrophic cardiomyopathy, Hepatomegaly, Hypocholesterolemia, Splenomegaly, ... OMIM:270400
Somatostatinoma
Intermittent jaundice, Extrahepatic cholestasis, Increased circulating prolactin concentration, P... ORPHA:97283
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
3-Methylglutaconic aciduria, Neutropenia, Ketonuria, Highly elevated creatine kinase, Elevated ci... OMIM:251900
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria, Hypouricemia OMIM:242050
Early-Onset Familial Hypoaldosteronism
Renal sodium wasting, Hyperkalemia, Increased circulating renin level, Hyponatremia, Postnatal gr... ORPHA:556030
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal insufficiency OMIM:614922
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Nephrocalcinosis, Polyuria, Enuresis, Renal insufficiency OMIM:204690
Eisenmenger Syndrome
Atrioventricular canal defect, Pedal edema, Hyperuricemia, Bacterial endocarditis, Aortopulmonary... ORPHA:97214
Immunodeficiency 82 With Systemic Inflammation
Anemia, Reduced natural killer cell count, Decreased circulating total IgM, Decreased lymphocyte ... OMIM:619381
Pheochromocytoma
Elevated urinary norepinephrine, Proteinuria, Hypercalcemia, Renal artery stenosis OMIM:171300
Sickle Cell Disease
Cholelithiasis, Hemolytic anemia, Target cells, Jaundice, Splenic infarction, Hematuria, Increase... OMIM:603903
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Meningococcal Meningitis
Skin rash, Renal insufficiency, Infectious encephalitis, Elevated circulating C-reactive protein ... ORPHA:33475
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Microphthalmia, Syndromic 9
Truncus arteriosus, Ventricular septal defect, Short stature, Renal malrotation, Hypoplastic left... OMIM:601186
Lamellar Ichthyosis
Renal insufficiency, Chronic otitis media, Short stature, Erythroderma ORPHA:313
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Microscopic hematuria ORPHA:86818
Nephronophthisis 19
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Renal interstitial fibrosis, Nephronophth... OMIM:616217
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Renal cyst, Short stature, Hydronephrosis OMIM:613390
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Oligosacchariduria, Lymphedema ORPHA:3137
Feingold Syndrome Type 1
Vesicoureteral reflux, Short stature, Renal dysplasia, Abnormality of the kidney, Nephritis, Hors... ORPHA:391641
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Stage 5 chronic kidney disease, Short stature OMIM:613819
Nail-Patella Syndrome
Nephrotic syndrome, Stage 5 chronic kidney disease, Abnormality of the kidney, Arthritis, Hematur... ORPHA:2614
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Grade II vesicoureteral reflux, Anemia, Prolonged neonatal jaundice, Microvesic... OMIM:619377
Congenital Bile Acid Synthesis Defect Type 2
Abnormal serum bile acid concentration, Hyperbilirubinemia, Jaundice, Extramedullary hematopoiesi... ORPHA:79303
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hyperalaninemia, Hyperprolinemia, Hepatomegaly OMIM:619064
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Glomerulonephritis, Hepatomegaly, Iron deficiency anemia, Cardiomegaly ORPHA:99931
Postinfectious Vasculitis
Bacterial endocarditis, Inflammatory abnormality of the skin, Elevated haptoglobin level, Arthrit... ORPHA:48435
Bor Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junc... ORPHA:107
Senior-Loken Syndrome 3
Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Nephronophthisis, Enuresis OMIM:606995
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Pericarditis, Oliguria, Renal insufficiency, Myocarditis, Pancr... ORPHA:188
Bartter Syndrome Type 4
Impaired renal concentrating ability, Acute kidney injury, Stage 5 chronic kidney disease, Hypoka... ORPHA:89938
Malakoplakia
Inflammatory abnormality of the skin, Dysuria, Urinary urgency, Skin rash, Hematuria, Urinary bla... ORPHA:556
Babesiosis
Renal insufficiency ORPHA:108
Mosaic Variegated Aneuploidy Syndrome
Nephroblastoma, Subvalvular aortic stenosis, Polyhydramnios, Multicystic kidney dysplasia, Short ... ORPHA:1052
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Short stature, Renal dysplasia, Hypoplasia of penis, Renal hypoplasia, Renal insufficiency ORPHA:85321
Reynolds Syndrome
Cirrhosis, Jaundice, Xerostomia, Hepatomegaly, Ascites ORPHA:779
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Hyperalaninemia, Hyperprolinemia, Perimembranous ventricular septal defect OMIM:619170
Hereditary Orotic Aciduria
Aminoaciduria, Anemia, Oroticaciduria, Abnormality of the ureter, Impaired T cell function, Oroti... ORPHA:30
Humeroradial Synostosis
Renal insufficiency OMIM:236400
Malignant Hyperthermia Of Anesthesia
Hyperphosphatemia, Acute kidney injury, Hyperkalemia, Elevated creatine kinase after exercise, My... ORPHA:423
Isolated Sedoheptulokinase Deficiency
Short stature, Hepatitis, Abnormal renal tubule morphology, Renal insufficiency, Severe postnatal... ORPHA:440713
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Relapsing Polychondritis
Conjunctivitis, Glomerulopathy, Recurrent aphthous stomatitis, Scleritis, Hepatitis, Arthritis, I... ORPHA:728
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Ascites, Mitral valve prolapse ORPHA:2848
Neuroleptic Malignant Syndrome
Urinary incontinence, Hyperphosphatemia, Hyperuricemia, Aspiration pneumonia, Acute kidney injury... ORPHA:94093
Fraser Syndrome 3
Ureteral agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hypoplasia of penis, Noni... OMIM:617667
Glucagonoma
Intermittent jaundice, Acanthocytosis, Extrahepatic cholestasis, Increased circulating prolactin ... ORPHA:97280
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease OMIM:616629
Tropical Endomyocardial Fibrosis
Pedal edema, Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopat... ORPHA:75565
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Immunoglobulin A Vasculitis
Glomerulopathy, Infectious encephalitis, Skin rash, Arthritis, Hematuria, Pustule, Proteinuria, E... ORPHA:761
Calciphylaxis
Stage 5 chronic kidney disease, Hyperphosphatemia ORPHA:280062
Ohdo Syndrome
Proteinuria, Short stature OMIM:249620
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Conjunctivitis, Rhinitis, Inflammatory abnormality of the skin, Acute kidney injury, Dysuria, Ren... ORPHA:95455
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Elevated maternal serum alpha-fetoprotein, Short stature, Stage 5 chronic kidney d... OMIM:309000
Spondyloenchondrodysplasia
Short stature, Juvenile rheumatoid arthritis, Hepatitis, Skin rash, Arthritis, Hematuria, Disprop... ORPHA:1855
Porphyria Cutanea Tarda
Abnormal circulating porphyrin concentration, Recurrent bacterial skin infections, Porphyrinuria,... ORPHA:101330
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Liver abscess, Granulomatosis, Pleural effusion, Lymphadenopathy, Hepatomegaly, Im... OMIM:306400
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, Stage 3 chronic kidney disease, Short stature, Hypophosphatemia, Medullary ... OMIM:619743
Paroxysmal Cold Hemoglobinuria
Hemoglobinuria, Abnormal urinary color ORPHA:90035
Glycogen Storage Disease Ii
Urinary incontinence, Increased circulating NT-proBNP concentration, Elevated circulating creatin... OMIM:232300
Hsd10 Disease, Infantile Type
Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urinary tract, Hyp... ORPHA:391428
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
3-Methylglutaconic aciduria, Microvesicular hepatic steatosis, Jaundice, Bile duct proliferation,... OMIM:203700
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Cirrhosis, Hepatic steatosis, Acute pancreatitis, Polyc... ORPHA:79086
Mirage Syndrome
Leukopenia, Anemia, Short stature, Microphallus, Recurrent urinary tract infections, Decreased te... OMIM:617053
Nail-Patella Syndrome
Short stature, Nephrotic syndrome, Hematuria, Glomerulonephritis, Proteinuria, Renal insufficiency OMIM:161200
Autoimmune Lymphoproliferative Syndrome, Type Iia
Malar rash, Nephritis, Nephrotic syndrome OMIM:603909
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Renal cyst, Growth delay, Nephrocalcinosis, Renal insufficiency ORPHA:445038
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Congenital Disorder Of Glycosylation, Type It
Ventricular septal defect, Short stature, Hepatitis, Dilated cardiomyopathy, Elevated circulating... OMIM:614921
Enamel-Renal Syndrome
Impaired renal concentrating ability, Nephrocalcinosis, Hypophosphaturia, Nephropathy, Hypocalciu... ORPHA:1031
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration OMIM:607155
Lissencephaly Syndrome, Norman-Roberts Type
Patent foramen ovale, Hypoplastic spleen, Intrauterine growth retardation, Atrial septal defect ORPHA:89844
Glycogen Storage Disease Ixc
Cirrhosis, Increased hepatic glycogen content, Bile duct proliferation, Growth delay, Hepatomegal... OMIM:613027
Severe Acute Respiratory Syndrome
Acute kidney injury, Acute infectious pneumonia ORPHA:140896
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Enlarged kidney, Polycystic kidney dysplasia, Absence of re... OMIM:263200
Arima Syndrome
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal sodium wasting, Polycystic kidney dy... OMIM:243910
Mogs-Cdg
Polyhydramnios, Decreased circulating total IgM, Pulmonary edema, Decreased circulating antibody ... ORPHA:79330
Scrub Typhus
Infectious encephalitis, Skin rash, Renal insufficiency, Myocarditis, Anterior uveitis ORPHA:83317
Fabry Disease
Glomerulopathy, Abnormal circulating lipid concentration, Anemia, Short stature, Nephrotic syndro... ORPHA:324
Hand-Foot-Genital Syndrome
Vesicoureteral reflux, Pyelonephritis, Hypospadias, Ureteropelvic junction obstruction, Renal ins... OMIM:140000
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Vesicoureteral reflux, Bifid ureter, Renal dysplasia, Renal agenesis, Unilateral renal agenesis, ... OMIM:617641
Colchicine Poisoning
Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Oliguria, Hyponatr... ORPHA:31824
Refsum Disease, Classic
Cardiomegaly, Abnormal renal physiology, Elevated circulating phytanic acid concentration, Cardio... OMIM:266500
Granulomatosis With Polyangiitis
Glomerulopathy, Prostatitis, Skin rash, Inflammatory abnormality of the eye, Hematuria, Pericardi... ORPHA:900
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Abnormality of iron homeostasis, Elevated transferrin saturation, Hepatocellular carci... ORPHA:465508
Igg4-Related Pachymeningitis
Lymphadenitis, Nephritis, Sinusitis, Parotitis, Elevated circulating C-reactive protein concentra... ORPHA:449427
Argininemia
Portal fibrosis, Oroticaciduria, Hyperammonemia, Diaminoaciduria, Hyperargininemia, Hepatomegaly,... OMIM:207800
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Decreased circulating antibody level, Growth delay, Anemia, Hypoalbuminemia ORPHA:79396
Acute Intermittent Porphyria
Urinary incontinence, Porphyrinuria, Urinary retention, Dysuria, Hyponatremia, Increased urinary ... ORPHA:79276
Attrv122I Amyloidosis
Anemia, Restrictive cardiomyopathy, Left ventricular hypertrophy, Increased circulating NT-proBNP... ORPHA:85451
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Porphyria Variegata
Abnormal circulating porphyrin concentration, Porphyrinuria, Neurogenic bladder, Hyponatremia, In... ORPHA:79473
Primary Hyperoxaluria
Elevated urine glycolate, Calcium oxalate nephrolithiasis, Stage 5 chronic kidney disease, Hematu... ORPHA:416
Nephronophthisis-Like Nephropathy 1
Renal tubular atrophy, Chronic pancreatitis, Stage 5 chronic kidney disease, Renal corticomedulla... OMIM:613159
Caudal Regression Syndrome
Vesicoureteral reflux, Renal agenesis, Ectopic kidney, Abnormality of the ureter, Renal insuffici... ORPHA:3027
Gallbladder Neuroendocrine Tumor
Intermittent jaundice, Extrahepatic cholestasis, Biliary tract neoplasm, Biliary tract obstructio... ORPHA:100086
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hemolytic-uremic syndrome, Methylmalonic aciduria, Glomerulopathy, Methylmalonic acidemia, Ketonu... ORPHA:79282
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Aspiration pneumonia, Stage 5 chronic kidney disease, Hematuria, Nephropathy, Keratitis, Proteinu... ORPHA:1018
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Ureterocele, Renal insuffi... ORPHA:261265
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Renal insufficiency, Membranoproliferative glomerulonephritis, Abnormal renal glomerulus morpholo... OMIM:137940
Juvenile Polyposis Of Infancy
Anemia, Short stature, Atrial septal defect, Abnormal heart morphology, Refractory anemia, Hypoal... ORPHA:79076
Ventriculomegaly With Cystic Kidney Disease
Renal corticomedullary cysts, Renal insufficiency OMIM:219730
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Short stature, Hepatocellular necrosis, Jaundice, He... OMIM:256810
Variant Abeta2M Amyloidosis
Renal amyloidosis, Chronic kidney disease ORPHA:314652
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:255125
Acute Adrenal Insufficiency
Hyperuricemia, Hyperkalemia, Renal salt wasting, Increased circulating renin level, Delayed puber... ORPHA:95409
Martin-Probst Syndrome
Short stature, Proteinuria, Renal insufficiency, Micropenis, Chordee OMIM:300519
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Short stature, Chronic kidney disease OMIM:615630
Gaucher Disease
Abnormal pericardium morphology, Mitral valve calcification, Cirrhosis, Anemia, Hydrops fetalis, ... ORPHA:355
Buschke-Ollendorff Syndrome
Arthritis, Renal insufficiency, Short stature ORPHA:1306
Cardiomyopathy, Familial Hypertrophic, 27
Concentric hypertrophic cardiomyopathy, Nonimmune hydrops fetalis, Ventricular septal hypertrophy... OMIM:618052
Combined Oxidative Phosphorylation Deficiency 9
Tubulointerstitial nephritis, Hyperalaninemia OMIM:614582
Bardet-Biedl Syndrome 9
Renal insufficiency OMIM:615986
Microsporidiosis
Lymphadenitis, Endocarditis, Myocarditis, Rhinitis, Osteomyelitis, Prostatitis, Abnormality of th... ORPHA:2552
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Ketonuria, Elevated circulating creatine kinase... OMIM:616878
Timothy Syndrome
Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot OMIM:601005
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Glycosuria, Short stature, Renal Fanconi syndrome, Stage 5 chronic kidney disease OMIM:268315
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Rhizomelic Limb Shortening With Dysmorphic Features
Rhizomelia, Stage 1 chronic kidney disease OMIM:618821
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Short stature, Thrombocytopenia, Micronodular cirrhosis, Hepatomegaly, Ascites, Splenomegaly OMIM:301072
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Hereditary Elliptocytosis
Stomatocytosis, Congenital hemolytic anemia, Hydrops fetalis, Hemolytic anemia, Elliptocytosis, H... ORPHA:288
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Membranoproliferative glomerulonephritis, Recurrent otitis media, Microscop... OMIM:619525
Boutonneuse Fever
Skin rash, Renal insufficiency, Maculopapular exanthema ORPHA:83313
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Proteinuria, Hematuria OMIM:192315
Congenital Disorder Of Glycosylation, Type Iig
Hemolytic-uremic syndrome, Rhizomelia, Short stature, Hypospadias, Renal insufficiency, Intrauter... OMIM:611209
Agel Amyloidosis
Blepharochalasis, Stage 5 chronic kidney disease, Abnormal spleen morphology, Edema, Xerostomia, ... ORPHA:85448
Cholera
Abnormality of renal excretion, Aspiration pneumonia, Acute kidney injury, Decreased urine output... ORPHA:173
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Asplenia, Polyhydramnios, Hepatomegal... OMIM:306955
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:206549
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Familial Mediterranean Fever
Crohn's disease, Nephrotic syndrome, Stage 5 chronic kidney disease, Arthritis, Peritonitis, Erys... OMIM:249100
Joubert Syndrome 7
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease OMIM:611560
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Nephrocalcinosis, Hypophosphatemic rickets, Right atrial enlargement OMIM:614473
Hellp Syndrome
Hemolytic anemia, Pulmonary edema, Acute kidney injury, Hemoglobinuria, Microangiopathic hemolyti... ORPHA:244242
Hyperoxaluria, Primary, Type I
Calcium oxalate nephrolithiasis, Hematuria, Nephrocalcinosis, Renal insufficiency, Hyperoxaluria OMIM:259900
Juvenile Polyposis Syndrome
Hypokalemia, Anemia, Hypoalbuminemia OMIM:174900
Familial Dysautonomia
Glomerulopathy, Abnormality of the kidney, Growth delay, Hyponatremia, Renal insufficiency ORPHA:1764
Orotic Aciduria
Pyrimidine-responsive megaloblastic anemia, Ventricular septal defect, Hematuria, Atrial septal d... OMIM:258900
Holoprosencephaly-Caudal Dysgenesis Syndrome
Renal insufficiency ORPHA:2165
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease, Hyperalaninemia, Lacticaciduria OMIM:618250
Hyperparathyroidism-Jaw Tumor Syndrome
Nephroblastoma, Renal hamartoma, Hypophosphatemia, Renal cyst, Hypercalcemia, Nephrocalcinosis, R... ORPHA:99880
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Castleman Disease
Ureteral obstruction, Hematuria, Renal insufficiency, Elevated circulating C-reactive protein con... ORPHA:160
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Polyhydramnios, Cardiomegaly, Pancreatic calcification, Hydrops fetalis,... ORPHA:51608
Ethylene Glycol Poisoning
Decreased urine output, Renal tubular epithelial necrosis, Hematuria, Hypocalcemia, Hyperkalemia,... ORPHA:31826
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:270150
Snakebite Envenomation
Acute kidney injury, Hyponatremia ORPHA:449285
Fucosidosis
Short stature, Glycopeptiduria, Oligosacchariduria, Hepatomegaly, Cardiomegaly, Vacuolated lympho... OMIM:230000
Cocaine Intoxication
Tubulointerstitial nephritis, Acute kidney injury, Hematuria, Elevated circulating creatine kinas... ORPHA:90068
Cutis Marmorata Telangiectatica Congenita
Ascites, Multicystic kidney dysplasia, Displacement of the urethral meatus, Intrauterine growth r... ORPHA:1556
Parathyroid Carcinoma
Nephroblastoma, Renal hamartoma, Hypophosphatemia, Renal cyst, Hypercalcemia, Nephrocalcinosis, R... ORPHA:143
Joubert Syndrome 9
Stage 5 chronic kidney disease OMIM:612285
Mercury Poisoning
Acute kidney injury, Interstitial pneumonitis, Hypokalemia ORPHA:330021
Renal Nutcracker Syndrome
Proteinuria, Hematuria, Renal artery stenosis, Microscopic hematuria ORPHA:71273
Yellow Fever
Anuria, Pancreatic hyperplasia, Acute kidney injury, Hyperbilirubinemia, Jaundice, Neutrophilia, ... ORPHA:99829
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Hypertrophic ca... ORPHA:308552
Congenitally Uncorrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... ORPHA:860
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Retroperitoneal fibrosis, Ventricular septal defect, Decreased response to... OMIM:602782
Lead Poisoning
Tubulointerstitial nephritis, Skin rash, Increased LDL cholesterol concentration, Delayed puberty... ORPHA:330015
Hypophosphatemic Rickets
Renal phosphate wasting, Enthesitis, Hyperphosphaturia, Hypophosphatemia, Disproportionate short ... ORPHA:437
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... ORPHA:35858
Lujo Hemorrhagic Fever
Maculopapular exanthema, Rhinitis, Fulminant hepatitis, Skin rash, Elevated circulating C-reactiv... ORPHA:319213
Zygomycosis
Endocarditis, Enterocolitis, Infectious encephalitis, Hepatitis, Fasciitis, Peritonitis, Nephriti... ORPHA:73263
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Pollakisuria, Elevated circulating creatine kinase concentration, Muscular edema, Cardiomegaly, R... ORPHA:268
Bardet-Biedl Syndrome 20
Proteinuria, Pancreatitis, Micropenis, Hypercholesterolemia OMIM:619471
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Aminoaciduria, Hypercholesterolemia, Hyponatremia, Nephrolithiasis, Periodontitis... ORPHA:534
Shigellosis
Conjunctivitis, Hemolytic-uremic syndrome, Myocarditis, Acute kidney injury, Arthritis, Ulcerativ... ORPHA:810
Carney Triad
Anemia, Pheochromocytoma, Lymphadenopathy, Mediastinal lymphadenopathy, Ascites ORPHA:139411
Sifrim-Hitz-Weiss Syndrome
Vesicoureteral reflux, Renal insufficiency, Micropenis, Short stature OMIM:617159
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Proteinuria OMIM:222448
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... ORPHA:555874
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Cantu Syndrome
Congenital hypertrophy of left ventricle, Lymphedema, Pericardial effusion, Bicuspid aortic valve... OMIM:239850
Lysinuric Protein Intolerance
Aminoaciduria, Intraalveolar phospholipid accumulation, Short stature, Stage 5 chronic kidney dis... OMIM:222700
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Anuria, Pyelonephritis, Megacystis, Peritonitis, Fetal megacystis OMIM:619351
Ascites, Chylous
Chylous ascites OMIM:208300
Diffuse Cutaneous Systemic Sclerosis
Arthritis, Renal insufficiency, Oliguria ORPHA:220393
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Abnormal circulating selenium concentration, IgA deposition in the glomerulus, Urinary bladder sp... ORPHA:79408
Kleefstra Syndrome
Vesicoureteral reflux, Short stature, Hypoplasia of penis, Renal cyst, Hypospadias, Chronic otiti... ORPHA:261494
Lethal Congenital Contracture Syndrome 10
Hydrops fetalis, Hypoplasia of the thymus, Ventricular septal defect, Oligohydramnios, Cardiomega... OMIM:617022
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Microvesicular hepatic steatosis, Hemolytic anemia, Unconjugated hyperbi... OMIM:618278
Cornelia De Lange Syndrome 1
Vesicoureteral reflux, Duplication of internal organs, Ventricular septal defect, Short stature, ... OMIM:122470
Infection-Related Hemolytic Uremic Syndrome
Nephrotic range proteinuria, Septic arthritis, Myocarditis, Anuria, Acute kidney injury, Decrease... ORPHA:544482
Arteriosclerosis, Severe Juvenile
Delayed puberty, Short stature, Chronic kidney disease OMIM:208060
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Listeriosis
Endocarditis, Septic arthritis, Myocarditis, Conjunctivitis, Osteomyelitis, Infectious encephalit... ORPHA:533
Scleroderma
Myelitis, Osteomyelitis, Acute kidney injury, Arthritis, Fasciitis, Uveitis, Elevated circulating... ORPHA:801
Joubert Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease OMIM:608629
Joubert Syndrome With Oculorenal Defect
Nephropathy, Renal insufficiency ORPHA:2318
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Ventricular septal defect, Bilateral cryptorchidism, Atrial septal defect, ... OMIM:618652
Refsum Disease
Renal insufficiency ORPHA:773
Joubert Syndrome With Renal Defect
Nephropathy, Renal insufficiency ORPHA:220497
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Vesicoureteral reflux, Short stature, Renal agenesis, Ectopic kidney, Horseshoe kidney, Renal ins... ORPHA:140952
Hardikar Syndrome
Vesicoureteral reflux, Hypoplasia of the bladder, Short stature, Recurrent urinary tract infectio... OMIM:301068
Arterial Calcification, Generalized, Of Infancy, 1
Short stature, Dilated cardiomyopathy, Hypophosphatemic rickets, Renal artery stenosis, Cardiomegaly OMIM:208000
Wagro Syndrome
Nephroblastoma, Proteinuria OMIM:612469
Fucosidosis
Abnormality of the gallbladder, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly ORPHA:349
Pyomyositis
Myositis, Recurrent cutaneous abscess formation, Renal insufficiency ORPHA:764
Cockayne Syndrome
Urinary incontinence, Malar rash, Hyperuricemia, Nephrotic syndrome, Neurogenic bladder, Keratoco... ORPHA:191
Kleefstra Syndrome Due To 9Q34 Microdeletion
Vesicoureteral reflux, Renal insufficiency, Hypoplasia of penis, Growth delay ORPHA:96147
Bardet-Biedl Syndrome 17
Stage 5 chronic kidney disease, Polyuria, Renal cyst, Micropenis OMIM:615994
Coach Syndrome 1
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Unilateral renal agenesis, ... OMIM:216360
Kawasaki Disease
Hepatitis, Jaundice, Double outlet right ventricle with subpulmonary ventricular septal defect wi... ORPHA:2331
Scalp-Ear-Nipple Syndrome
Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephritis, Duplication of ren... ORPHA:2036
Craniofaciofrontodigital Syndrome
Polyhydramnios, Ventricular septal defect, Short stature, Pericardial effusion, Bicuspid aortic v... ORPHA:363705
Cranioectodermal Dysplasia 4
Stage 5 chronic kidney disease, Recurrent pneumonia, Short stature OMIM:614378
Pmm2-Cdg
Hepatic fibrosis, Abnormal liver parenchyma morphology, Elevated circulating thyroid-stimulating ... ORPHA:79318
Sandhoff Disease
Urinary incontinence, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:268800
Autosomal Recessive Cutis Laxa Type 1
Vesicoureteral reflux, Recurrent urinary tract infections, Pyelonephritis, Urethral diverticulum,... ORPHA:90349
Niemann-Pick Disease Type C
Hydrops fetalis, Abnormality of the liver, Jaundice, Hepatosplenomegaly, Fetal ascites, Bone-marr... ORPHA:646
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Rhizomelic arm shortening, Rhizomelic leg shortening, Renal cortical cysts, Recurrent aspiration ... ORPHA:397715
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Cardiomegaly, Cardiomyopathy OMIM:105210
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Enlarged kidney, Hypertrophic cardiomyopathy, Severe postnat... OMIM:252500
Distal Monosomy 10Q
Vesicoureteral reflux, Short stature, Acute kidney injury, Horseshoe kidney, Enuresis, Functional... ORPHA:96148
Pseudo-Torch Syndrome 1
Renal insufficiency OMIM:251290
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Renal insufficiency, Colitis OMIM:203300
Exstrophy-Epispadias Complex
Vesicoureteral reflux, Urinary incontinence, Renal duplication, Bladder exstrophy, Absent penis, ... ORPHA:322
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Abnormality of the kidney, Enuresis, Short stature ORPHA:459061
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Hydrops fetalis, Fetal ascites OMIM:215045
Renal-Hepatic-Pancreatic Dysplasia 1
Renal dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Ur... OMIM:208540
Beckwith-Wiedemann Syndrome
Nephroblastoma, Vesicoureteral reflux, Cardiomegaly, Renal cortical cysts, Pancreatic hyperplasia... OMIM:130650
Coronary Arterial Fistula
Patent foramen ovale, Pedal edema, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, A... ORPHA:2041
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Renal insufficiency, Short stature OMIM:226980
D-Bifunctional Protein Deficiency
Polyhydramnios, Increased circulating very long-chain fatty acid concentration, Renal cyst, Hepat... OMIM:261515
Beckwith-Wiedemann Syndrome
Polyhydramnios, Elevated circulating alpha-fetoprotein concentration, Hepatoblastoma, Hypertrophi... ORPHA:116
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Increased hepatic glycogen content, Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy OMIM:619259
Giant Cell Arteritis
Pericarditis, Arthritis, Renal insufficiency, Hematuria ORPHA:397
Fixed Subaortic Stenosis
Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia... ORPHA:3092
Holoprosencephaly
Ventricular septal defect, Anterior hypopituitarism, Hypoplasia of penis, Panhypopituitarism, Abn... ORPHA:2162
Gaucher Disease, Type Iiic
Splenomegaly, Mitral stenosis, Pancytopenia, Hepatomegaly, Cardiomegaly, Aortic valve calcificati... OMIM:231005
Aymé-Gripp Syndrome
Short stature, Pericardial effusion, Pericarditis, Cryptorchidism, Proteinuria, Breast hypoplasia... ORPHA:1272
Lymphatic Malformation 12
Polyhydramnios, Lymphedema, Hydrocele testis, Nonimmune hydrops fetalis, Fetal ascites OMIM:620014
Joubert Syndrome 6
Nephronophthisis, Stage 5 chronic kidney disease OMIM:610688
Cockayne Syndrome A
Short stature, Intrauterine growth retardation, Severe postnatal growth retardation, Micropenis, ... OMIM:216400
Mandibuloacral Dysplasia With Type B Lipodystrophy
Stage 5 chronic kidney disease, Growth delay, Hyperlipidemia OMIM:608612
Sepsis In Premature Infants
Elevated circulating C-reactive protein concentration, Reversible renal failure, Enterocolitis, O... ORPHA:90051
Behçet Disease
Endocarditis, Glomerulopathy, Recurrent aphthous stomatitis, Infectious encephalitis, Arthritis, ... ORPHA:117
X-Linked Lymphoproliferative Disease
Myocarditis, Fulminant hepatitis, Nephritis, Inflammation of the large intestine, Increased circu... ORPHA:2442
Scalp-Ear-Nipple Syndrome
Short stature, Pyelonephritis, Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency OMIM:181270
Cockayne Syndrome B
Intrauterine growth retardation, Severe short stature, Micropenis, Proteinuria, Hepatomegaly, Cry... OMIM:133540
Joubert Syndrome 2
Nephronophthisis, Renal insufficiency, Renal cyst OMIM:608091
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Short stature OMIM:613320
Joubert Syndrome With Hepatic Defect
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia ORPHA:1454
Chronic Graft Versus Host Disease
Phimosis, Hematuria, Pancytopenia, Pleural effusion, Urinary bladder inflammation, Xerostomia, As... ORPHA:99921
Coccidioidomycosis
Osteomyelitis, Folliculitis, Erythema nodosum, Abnormality of the kidney, Skin rash, Arthritis, M... ORPHA:228123
Danon Disease
Dilated cardiomyopathy, Myocardial fibrosis, Elevated circulating creatine kinase concentration, ... OMIM:300257
Williams Syndrome
Abnormal circulating lipid concentration, Abnormal cardiac septum morphology, Abnormality of the ... ORPHA:904
Isolated Right Ventricular Hypoplasia
Patent foramen ovale, Pedal edema, Atrial septal defect, Muscular ventricular septal defect, Card... ORPHA:439
Orofaciodigital Syndrome I
Pancreatic cysts, Hepatic fibrosis, Short stature, Polycystic kidney dysplasia, Abnormal heart mo... OMIM:311200
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, ... ORPHA:324410
Primary Sjögren Syndrome
Tubulointerstitial nephritis, Chronic active hepatitis, Erythema nodosum, Abnormality of the kidn... ORPHA:289390
Cockayne Syndrome Type 3
Urinary retention, Neurogenic bladder, Hydroureter, Keratoconjunctivitis sicca, Mild postnatal gr... ORPHA:90324
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating thyroid-stimulating hormone concentration, Short stature, Increased circulat... OMIM:256040
Erdheim-Chester Disease
Osteomyelitis, Dysuria, Skin rash, Renal insufficiency, Hydronephrosis ORPHA:35687
Niemann-Pick Disease, Type C2
Polyhydramnios, Sea-blue histiocytosis, Jaundice, Fetal ascites, Bone-marrow foam cells, Hepatome... OMIM:607625
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Abnormal aortic valve morphology, Adenoiditis, Mucopolysacchari... ORPHA:581
Autosomal Dominant Cutis Laxa
Bronchiectasis, Bladder diverticulum, Pyelonephritis, Unilateral renal agenesis, Intrauterine gro... ORPHA:90348
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Proteinuria, Renal insufficiency, Chronic otitis media, Hydronephrosis ORPHA:2750
Niemann-Pick Disease, Type C1
Sea-blue histiocytosis, Fetal ascites, Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal j... OMIM:257220
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Oligohydramnios, Cryptorchidism, Hepatomegaly, Dehydration, Cardiomega... ORPHA:96191
Meckel Syndrome, Type 7
Stage 5 chronic kidney disease, Multicystic kidney dysplasia, Multiple glomerular cysts OMIM:267010
Glutaryl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Chronic kidney disease ORPHA:25
Intermediate Uveitis
Tubulointerstitial nephritis, Optic neuritis, Psoriasiform dermatitis, Anterior uveitis ORPHA:279914
Cranioectodermal Dysplasia 1
Tubulointerstitial nephritis, Rhizomelia, Stage 1 chronic kidney disease, Stage 5 chronic kidney ... OMIM:218330
Stevens-Johnson Syndrome
Conjunctivitis, Dysuria, Renal insufficiency, Abnormality of the urethra, Pancreatitis ORPHA:36426
Scorpion Envenomation
Myocarditis, Ketonuria, Acute kidney injury, Glycosuria, Hypokalemia, Increased circulating NT-pr... ORPHA:466677
Autoimmune Lymphoproliferative Syndrome
Recurrent aphthous stomatitis, Hepatitis, Arthritis, Thyroiditis, Uveitis, Glomerulonephritis, Ga... ORPHA:3261
Toxic Epidermal Necrolysis
Conjunctivitis, Dysuria, Renal insufficiency, Abnormality of the urethra, Pancreatitis ORPHA:537
Joubert Syndrome 5
Impaired renal concentrating ability, Renal cortical cysts, Stage 5 chronic kidney disease, Reduc... OMIM:610188
Cranioectodermal Dysplasia 2
Rhizomelia, Short stature, Hyperbilirubinemia, Cholangitis, Renal cyst, Recurrent pneumonia, Rena... OMIM:613610
Tuberous Sclerosis Complex
Renal angiomyolipoma, Stage 5 chronic kidney disease, Abnormality of the kidney, Polycystic kidne... ORPHA:805
Waldenström Macroglobulinemia
Renal insufficiency ORPHA:33226
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Short stature, Recurrent urinary tract i... OMIM:614527
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Hypertrophic ca... ORPHA:365
Cranioectodermal Dysplasia 3
Nephronophthisis, Short stature, Rhizomelia, Stage 5 chronic kidney disease OMIM:614099
Leptospirosis
Acute kidney injury, Skin rash, Hepatitis, Cellular urinary casts, Uveitis, Pericarditis, Optic n... ORPHA:509
Truncus Arteriosus
Hypoplasia of the thymus, Truncus arteriosus, Ventricular septal defect, Pulmonary edema, Transpo... ORPHA:3384
Lethal Acantholytic Erosive Disorder
Oligohydramnios, Cardiomegaly, Intrauterine growth retardation, Cardiomyopathy ORPHA:158687
Serotonin Syndrome
Acute kidney injury ORPHA:43116
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Complete atrioventricular can... ORPHA:1329
Fanconi Anemia
Abnormal preputium morphology, Recurrent urinary tract infections, Renal hypoplasia/aplasia, Hydr... ORPHA:84
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Rhizomelia, Short stature, Bicuspid aortic valve, Mitral valve prolapse, Le... OMIM:245600
Histiocytoid Cardiomyopathy
Ventricular septal defect, Pulmonary edema, Renal cyst, Polycystic ovaries, Hepatomegaly, Cardiom... ORPHA:137675
Bohring-Opitz Syndrome
Nephroblastoma, Abnormal cardiac septum morphology, Urinary retention, Short stature, Intrauterin... ORPHA:97297
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Rhizomelia, Short stature, Renal dysplasia, Stage 5 chronic kidney disease, Acute kidney injury, ... OMIM:266920
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Igg4-Related Submandibular Gland Disease
Abnormality of the kidney, Renal insufficiency, Prostatitis, Cholangitis ORPHA:449432
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concen... ORPHA:466650
Sarcoidosis
Tubulointerstitial nephritis, Bronchiectasis, Erythema nodosum, Keratoconjunctivitis sicca, Uveit... ORPHA:797
Williams-Beuren Syndrome
Vesicoureteral reflux, Short stature, Recurrent urinary tract infections, Nephrocalcinosis, Bladd... OMIM:194050
Orofaciodigital Syndrome Type 3
Stage 5 chronic kidney disease ORPHA:2752
Familial Idiopathic Dilatation Of The Right Atrium
Atrial septal dilatation, Pleural effusion, Peripheral edema, Hepatomegaly, Abnormality of the he... ORPHA:1677
Hermansky-Pudlak Syndrome
Renal insufficiency ORPHA:79430
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly, Cryptorchidism OMIM:618143
Yunis-Varon Syndrome
Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Short stature, Atrial septal defect, ... ORPHA:3472
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Short stature, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Neona... ORPHA:51
Absence Of The Pulmonary Artery
Patent foramen ovale, Pedal edema, Truncus arteriosus, Abnormal cardiac septum morphology, Pulmon... ORPHA:980
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Digeorge Syndrome
Short stature, Renal dysplasia, Hypocalcemia, Unilateral renal agenesis, Recurrent sinusitis, Rec... OMIM:188400
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... OMIM:620066
Au-Kline Syndrome
Vesicoureteral reflux, Chronic kidney disease, Dilatation of the renal pelvis, Hydronephrosis OMIM:616580
Aorta Coarctation
Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l... ORPHA:1457
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Tubulointerstitial nephritis, Aminoaciduria, Cholangitis, Lacticaciduria, Hypertyrosinemia OMIM:124000
Degcags Syndrome
Abnormal renal cortex morphology, Rhinitis, Recurrent urinary tract infections, Abnormal renal me... OMIM:619488
Autoimmune Polyendocrinopathy Type 4
Tubulointerstitial nephritis, Atrophic gastritis, Iridocyclitis, Hepatitis, Rheumatoid arthritis,... ORPHA:227990
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormality of the thymus, Cardiomegaly ORPHA:2463
Townes-Brocks Syndrome
Vesicoureteral reflux, Urethral valve, Short stature, Abnormality of the kidney, Hypoplasia of pe... ORPHA:857
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Autoimmune Polyendocrinopathy Type 3
Tubulointerstitial nephritis, Atrophic gastritis, Iridocyclitis, Hepatitis, Rheumatoid arthritis,... ORPHA:227982
Cornelia De Lange Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Short stature, Hypoplasia of penis, Severe p... ORPHA:199
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... OMIM:601214
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria OMIM:616682
Acute Liver Failure
Acute kidney injury, Skin rash, Hyperammonemia, Hepatitis ORPHA:90062
Congenital Tracheal Stenosis
Polyhydramnios, Ventricular septal defect, Abnormality of the kidney, Oligohydramnios, Hypoplasti... ORPHA:141127
Blau Syndrome
Iridocyclitis, Stage 5 chronic kidney disease, Skin rash, Erythema nodosum, Synovitis, Pericardit... ORPHA:90340
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Subvalvular aortic stenosis, Thyroid hypoplasia, Hepatosplenomegaly, Hepatic steatosis, Fetal asc... OMIM:619503
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Pineal cyst, Atrial septal defect, Left ventricu... OMIM:300967
Congenital Tracheomalacia
Ventricular septal defect, Single ventricle, Atrial septal defect, Abnormal heart morphology, Par... ORPHA:95430
Costello Syndrome
Renal insufficiency, Short stature OMIM:218040
Townes-Brocks Syndrome 1
Vesicoureteral reflux, Multicystic kidney dysplasia, Urethral valve, Renal dysplasia, Hypospadias... OMIM:107480
Sotos Syndrome
Vesicoureteral reflux, Congenital posterior urethral valve, Phimosis, Abnormality of the kidney, ... ORPHA:821
African Trypanosomiasis
Conjunctivitis, Urinary incontinence, Myelitis, Iritis, Pericarditis, Optic neuritis, Keratitis, ... ORPHA:3385
Floating-Harbor Syndrome
Short stature, Congenital posterior urethral valve, Stage 5 chronic kidney disease, Polycystic ki... ORPHA:2044
Hereditary Sensory And Autonomic Neuropathy Type 4
Septic arthritis, Osteomyelitis, Recurrent aspiration pneumonia, Fasciitis, Growth delay, Chronic... ORPHA:642
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Lymphedema ORPHA:79280
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Cardiac total anomalous... ORPHA:99125
Igg4-Related Dacryoadenitis And Sialadenitis
Tubulointerstitial nephritis, Myositis, Thyroiditis, Keratoconjunctivitis sicca ORPHA:79078
Alström Syndrome
Recurrent sinusitis, Glomerulonephritis, Hyperlipidemia, Recurrent cystitis, Delayed menarche, De... ORPHA:64
Faundes-Banka Syndrome
Fetal ascites, Delayed puberty, Intrauterine growth retardation, Cryptorchidism OMIM:619376
Singleton-Merten Syndrome 1
Subvalvular aortic stenosis, Short stature, Pleural effusion, Aortic valve stenosis, Cardiomegaly... OMIM:182250

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cd2ap

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cd2ap.

No publications found that use IMPC mice or data for Cd2ap.

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MGI Allele Allele Type Produced
Cd2apem1(IMPC)Bay Exon Deletion Mice, Tissue
Cd2aptm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cd2aptm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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