Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
decreased grip strength Cd2apem1(IMPC)Bay HOM   Early adult 1.17×10-05
preweaning lethality, incomplete penetrance Cd2apem1(IMPC)Bay HOM   Early adult 0.00

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Viewing: all phenotypes
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Viewing: all phenotypes

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

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

Eye Morphology

VIP of left fundus

36 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

21 Images

Eye Morphology

VIP of left eye

37 Images

Eye Morphology

VIP of right eye

37 Images

X-ray

XRay Images Whole Body Dorso Ventral

21 Images

Eye Morphology

VIP of right eye

20 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

Eye Morphology

VIP of left eye

20 Images

Eye Morphology

VIP of right fundus

37 Images

X-ray

XRay Images Skull Lateral Orientation

21 Images

X-ray

XRay Images Whole Body Lateral Orientation

21 Images

X-ray

XRay Images Forepaw

21 Images

Eye Morphology

VIP of left fundus

20 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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