| Proteinuria, Chronic Benign |
|
Renal insufficiency, Proteinuria, Albuminuria |
OMIM:618884 |
| Lipoprotein Glomerulopathy |
|
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria |
OMIM:611771 |
| Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:617783 |
| Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Proteinuria |
ORPHA:419 |
| Nephrotic Syndrome, Type 20 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:301028 |
| 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 |
| Focal Segmental Glomerulosclerosis 8 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616032 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Stage 5 chronic kidney disease, Nephrotic syndrome, Pro... |
OMIM:601894 |
| Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... |
OMIM:616002 |
| Nephrotic Syndrome, Type 17 |
|
Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... |
OMIM:618176 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Stage 5 chronic kidney disease, Proteinuria, Nephrotic syndrome |
OMIM:614199 |
| Focal Segmental Glomerulosclerosis 10 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... |
OMIM:256020 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropa... |
OMIM:137950 |
| Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Mesangial hypercellu... |
OMIM:616818 |
| Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... |
OMIM:619201 |
| Focal Segmental Glomerulosclerosis 2 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscleros... |
OMIM:603965 |
| Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Microscopic hematuria |
ORPHA:2613 |
| Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria |
OMIM:613944 |
| Focal Segmental Glomerulosclerosis 5 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:613237 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria |
OMIM:607832 |
| Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Proteinuria, Microscopic hematuria |
OMIM:161900 |
| Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Minimal change glomerulonep... |
OMIM:617609 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic-uremic syndrome, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney diseas... |
OMIM:615008 |
| Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:614131 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... |
OMIM:308990 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... |
OMIM:611555 |
| Nephrotic Syndrome, Type 9 |
|
Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy... |
OMIM:615573 |
| Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria |
OMIM:161950 |
| Myoglobinuria, Recurrent |
|
Exercise-induced myoglobinuria, Recurrent myoglobinuria |
OMIM:550500 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... |
OMIM:310468 |
| Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney disease, Mic... |
ORPHA:54370 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Bone cyst |
ORPHA:2668 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
| Nephrotic Syndrome, Type 2 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:600995 |
| Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Osteopenia, Hydronephrosis |
OMIM:619269 |
| Galactosemia I |
|
Aminoaciduria, Increased level of galactitol in urine, Galactosuria, Albuminuria |
OMIM:230400 |
| Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Proximal tubulopathy, Osteomalacia, Glycosuria, Generalized aminoaciduri... |
OMIM:613388 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr... |
OMIM:614650 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Glycosuria, Moderate albuminuria, Abnormality of the upper urinary tract, Renal tubula... |
ORPHA:99885 |
| Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abnormal glomerular mesangium morphology... |
ORPHA:84090 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Abnormal renal tubule morphology, Proteinuria, Nephrotic syndrome |
ORPHA:839 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Rickets, Low-molecular-weight proteinuria |
OMIM:615605 |
| 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 |
| Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Nephrotic syndrome |
OMIM:617006 |
| Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Proteinuria, Hematuria |
ORPHA:2134 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... |
ORPHA:730 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Focal segmental glo... |
OMIM:613092 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome |
OMIM:613913 |
| Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
| Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Osteomalacia, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Lacticacid... |
OMIM:134600 |
| Denys-Drash Syndrome |
|
Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:220 |
| Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Renal insufficiency, Myoglobinuria |
OMIM:255110 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Moderate albuminuria, Osteopenia |
OMIM:614231 |
| Nephrotic Syndrome, Type 22 |
|
Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr... |
OMIM:619155 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Carpal osteolysis, Stage 5 chronic kidney disease, Metatarsal osteolysis, Metacarpal osteolysis, ... |
OMIM:166300 |
| Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Myoglobinuria |
OMIM:160010 |
| Dent Disease 1 |
|
Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Thin bony cortex, Delayed epiphysea... |
OMIM:300009 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... |
ORPHA:976 |
| Focal Segmental Glomerulosclerosis 1 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:603278 |
| Amyloidosis, Familial Visceral |
|
Nephropathy, Hematuria, Proteinuria, Nephrotic syndrome |
OMIM:105200 |
| Dent Disease |
|
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Thin bony cortex, Hyperp... |
ORPHA:1652 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Proteinuria, Mucopolysacchariduria, Generalized bone demineralization, Nephrotic syndrome |
OMIM:215250 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Osteoporosis, Membranoproliferative glomerulonephritis, Microscopic hematuria |
OMIM:619525 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Acute kidney injury, Glomerulonephritis, Glomerular C3 deposition, Proteinuri... |
ORPHA:567544 |
| Hypouricemia, Renal, 1 |
|
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... |
OMIM:220150 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome |
OMIM:608709 |
| Nephronophthisis 13 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glomerular subepithelial immune-comp... |
OMIM:614377 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Stage 5 chronic kidney disease, Proteinuria, Rickets |
OMIM:219900 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Thin bony cortex, Proximal tubulopathy, Delayed epiphyseal ossification,... |
OMIM:300554 |
| Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... |
OMIM:618913 |
| Galloway-Mowat Syndrome 8 |
|
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:618349 |
| Dent Disease 2 |
|
Aminoaciduria, Proximal tubulopathy, Low-molecular-weight proteinuria, Nephrocalcinosis, Hypercal... |
OMIM:300555 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Proteinuria |
OMIM:245900 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
| Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Hematuria, Abnormal renal physiology, Chronic kidney disease |
OMIM:123550 |
| Frasier Syndrome |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:136680 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Stage 5 chronic kidney disease, Microscopic hematuria, Minimal change glomerulonephritis, Macrosc... |
ORPHA:567546 |
| Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
| Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria, Microscopic hematuria |
OMIM:261100 |
| C3 Glomerulopathy |
|
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... |
ORPHA:329918 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Nephrotic syndrome |
OMIM:614652 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Acute kidney injury, Dysuria, Renal tubular epithelial necrosis, Moderate albuminuria, Hematuria,... |
ORPHA:95455 |
| Glycogen Storage Disease X |
|
Renal insufficiency, Myoglobinuria |
OMIM:261670 |
| Hereditary Renal Hypouricemia |
|
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... |
ORPHA:94088 |
| Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Microscopic hematuria |
ORPHA:79087 |
| Nephrotic Syndrome, Type 8 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Thin glomerular ... |
OMIM:615244 |
| Renal Hypoplasia |
|
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... |
ORPHA:93101 |
| Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:203780 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:614455 |
| Al Amyloidosis |
|
Nephrotic syndrome, Renal interstitial amyloid deposits, Abnormality of the kidney, Albuminuria, ... |
ORPHA:85443 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Epiphyseal stippling, Hypospadias, Albuminuria, Renal cortical microcysts, Hydrone... |
OMIM:214100 |
| Galloway-Mowat Syndrome 5 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:617731 |
| Systemic Sclerosis |
|
Osteolytic defects of the phalanges of the hand, Acute kidney injury, Abnormality of the kidney, ... |
ORPHA:90291 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Abnormality of the kidney, Proteinuria, Osteopenia, Osteoporosis |
ORPHA:369 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Rickets, Nephrocalcinosis, Proteinuria |
OMIM:616026 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Metacarpal osteolysis, Osteolysis, Nephropathy, Proteinuria, Carpal osteolysis |
ORPHA:2774 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Foamy urine, Diffuse mesangial... |
ORPHA:656 |
| Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:225 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Renal amyloidosis, Renal insufficiency, Proteinuria |
OMIM:134610 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria... |
OMIM:612925 |
| Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria |
ORPHA:54057 |
| Lcat Deficiency |
|
Renal insufficiency, Acute kidney injury, Stage 5 chronic kidney disease, Decreased glomerular fi... |
ORPHA:650 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:301006 |
| Cednik Syndrome |
|
Proteinuria, Nephrotic syndrome |
ORPHA:66631 |
| Glycogen Storage Disease Xi |
|
Renal insufficiency, Myoglobinuria |
OMIM:612933 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria |
OMIM:620010 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria |
OMIM:612924 |
| Anti-Glomerular Basement Membrane Disease |
|
Renal insufficiency, Glomerulopathy, Proteinuria, Hematuria |
ORPHA:375 |
| Preeclampsia |
|
Acute kidney injury, Abnormality of the kidney, Proteinuria, Chronic kidney disease |
ORPHA:275555 |
| Glycogen Storage Disease V |
|
Myoglobinuria, Dark urine |
OMIM:232600 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria |
OMIM:612926 |
| Aa Amyloidosis |
|
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
| Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Hydronephrosis, Tubulointerstitial nephritis, Abnormal ureter morpho... |
ORPHA:449395 |
| Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Hyperuricosuria, Osteomalacia, Stage 5 chronic kidney disease, Renal sod... |
ORPHA:3337 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:1192 |
| Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:104200 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Acute kidney injury, Stage 5 chronic kidney disease, Minimal change glomer... |
ORPHA:567548 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Renal insufficiency, Myoglobinuria |
ORPHA:2364 |
| Alagille Syndrome 2 |
|
Renal insufficiency, Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Proteinuria |
OMIM:610205 |
| Free Sialic Acid Storage Disease |
|
Reduced bone mineral density, Proteinuria, Nephrotic syndrome |
ORPHA:834 |
| Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:616730 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Myoglobinuria |
OMIM:268200 |
| Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Epiphyseal stippling, Increased urinary O-linke... |
OMIM:256550 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, ... |
ORPHA:228302 |
| Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
| Galloway-Mowat Syndrome 10 |
|
Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial sclerosis, Pr... |
OMIM:619609 |
| Myh9-Related Disease |
|
Nephropathy, Renal insufficiency, Nephritis, Proteinuria |
ORPHA:182050 |
| Renal Hypoplasia, Bilateral |
|
Vesicoureteral reflux, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria, Renal cyst, D... |
ORPHA:97362 |
| Galloway-Mowat Syndrome 4 |
|
Congenital nephrotic syndrome, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesang... |
OMIM:617730 |
| Cystinosis |
|
Aminoaciduria, Rickets, Nephropathy, Proteinuria, Renal insufficiency, Renal tubular dysfunction |
ORPHA:213 |
| Frasier Syndrome |
|
Nephroblastoma, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Proteinuria, Focal segme... |
ORPHA:347 |
| Nephrotic Syndrome, Type 1 |
|
Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Diffuse mesangial scl... |
OMIM:256300 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hypermagnesiuria, Osteomalacia, Hyperphospha... |
ORPHA:18 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Aminoaciduria, Renal tubular acidosis, Glycosuria, Nephropathy, Nephrocalcinosis, Proteinuria |
OMIM:613404 |
| Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Renal artery stenosis, Proteinuria |
OMIM:209010 |
| Nephrotic Syndrome, Type 14 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mes... |
OMIM:617575 |
| Galloway-Mowat Syndrome 6 |
|
Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:618347 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Tubulointerstitial nephritis, Sagittal craniosynostosis, Proteinuria, Hematuria |
OMIM:616901 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Glomerular basement membrane lamellation, Stage 5 chronic kidney disease, Hematuria, Abnormal ren... |
OMIM:308940 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Vesicoureteral reflux, Abnormality of the kidney, Renal agenesis, Proteinuria, Chronic kidney dis... |
ORPHA:261222 |
| Ddost-Cdg |
|
Nephrotic range proteinuria, Osteopenia |
ORPHA:300536 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Nephrotic syndrome, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Distal renal tubular ... |
OMIM:146255 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Nephropathy, Hematuria, Proteinuria |
ORPHA:1765 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Recurrent myoglobinuria, Chronic... |
ORPHA:368 |
| Alport Syndrome |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Glomerular basement membrane lamellation... |
ORPHA:63 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Proteinuria, Membranoproliferative glomerulonephritis |
OMIM:619858 |
| Alport Syndrome 1, X-Linked |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Nep... |
OMIM:301050 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
| Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:618348 |
| Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Hyperuricosuria, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting renal tubular ... |
ORPHA:47159 |
| Papillorenal Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot... |
OMIM:120330 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Hypospadias, Proteinuria |
OMIM:619428 |
| Oligomeganephronia |
|
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... |
ORPHA:2260 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Proteinuria |
OMIM:603585 |
| Becker Muscular Dystrophy |
|
Abnormal urinary color, Myoglobinuria |
ORPHA:98895 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Renal h... |
OMIM:614376 |
| Paroxysmal Cold Hemoglobinuria |
|
Hemoglobinuria, Abnormal urinary color |
ORPHA:90035 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Proteinuria, Renal Fanconi syndrome, Renal tubular ... |
ORPHA:436271 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Renal salt wasting, Polyuria, Proteinuria, Hyperechogenic kidneys, Chronic kidney disease |
OMIM:613845 |
| Juvenile Nephropathic Cystinosis |
|
Abnormal urine potassium concentration, Aminoaciduria, Proximal tubulopathy, Renal phosphate wast... |
ORPHA:411634 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Elevated urinary norepinephrine, Proteinuria |
OMIM:171420 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Proteinuria, Renal Fanconi syndrome, Hypophosphatemic rickets |
ORPHA:263455 |
| Renal Agenesis |
|
Ureteral agenesis, Renal insufficiency, Bilateral renal agenesis, Renal agenesis, Unilateral rena... |
ORPHA:411709 |
| Heme Oxygenase 1 Deficiency |
|
Proteinuria, Hematuria, Nephritis |
OMIM:614034 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Ren... |
ORPHA:85450 |
| Wild Type Attr Amyloidosis |
|
Nephropathy, Renal insufficiency, Proteinuria, Nephrotic syndrome |
ORPHA:330001 |
| Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Tubulointerstitial nephritis, Acute kidney injury, Glomerular sclero... |
ORPHA:93126 |
| Renal Hypodysplasia/Aplasia 1 |
|
Proteinuria, Bilateral renal agenesis, Renal dysplasia |
OMIM:191830 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Proteinuria, Renal Fanconi syndrome, Renal tubular ... |
OMIM:220110 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Heavy prote... |
ORPHA:255249 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hematuria, Elevated urinary epinephrine, Glomerular sclerosis, Elevated urinary dopamine, Elevate... |
ORPHA:276621 |
| Gaucher Disease Type 1 |
|
Increased bone mineral density, Hematuria, Osteolysis, Osteopenia, Proteinuria |
ORPHA:77259 |
| Majeed Syndrome |
|
Glomerulopathy, Proteinuria, Increased bone mineral density, Microscopic hematuria |
ORPHA:77297 |
| Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Rickets, Abnormal tubulointerstitial morphology, Lo... |
ORPHA:411629 |
| Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria |
ORPHA:91138 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Focal segmental glomerulosclerosis, Recurr... |
OMIM:607426 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Membranoproliferative glomerulonephritis, Macroscopic hematuria, Proteinuria, Cr... |
ORPHA:251004 |
| Donnai-Barrow Syndrome |
|
Proteinuria |
ORPHA:2143 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria |
OMIM:231530 |
| Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Proteinuria |
ORPHA:69126 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
| Pediatric Systemic Lupus Erythematosus |
|
Nephrotic syndrome, Hematuria, Nephritis, Proteinuria, Abnormality of the urinary system, Renal i... |
ORPHA:93552 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hemolytic-uremic syndrome, Methylmalonic aciduria, Cystathioninuria, Hematuria, Nephropathy, Prot... |
OMIM:277400 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria |
ORPHA:119 |
| Schimke Immunoosseous Dysplasia |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Osteopenia, Proteinuria, Renal insufficiency,... |
OMIM:242900 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Proteinuria, Abnormal renal physiology, Microscopic hematuria |
OMIM:274150 |
| Aicardi-Goutieres Syndrome 9 |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Glomerular sclerosis, Osteopo... |
OMIM:619487 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria |
OMIM:145600 |
| Glycogen Storage Disease Ia |
|
Enlarged kidney, Decreased glomerular filtration rate, Proteinuria, Focal segmental glomeruloscle... |
OMIM:232200 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate, Proteinur... |
ORPHA:488627 |
| Schimke Immuno-Osseous Dysplasia |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, N... |
ORPHA:1830 |
| Fabry Disease |
|
Renal insufficiency, Lipiduria, Urinary mulberry cells, Proteinuria |
OMIM:301500 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal hypoplasia, Renal insufficiency, Proteinuria |
ORPHA:1307 |
| Cystinosis, Nephropathic |
|
Aminoaciduria, Stage 5 chronic kidney disease, Glycosuria, Hyperphosphaturia, Hematuria, Medullar... |
OMIM:219800 |
| Hypocomplementemic Urticarial Vasculitis |
|
Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria |
ORPHA:36412 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Myoglobinuria |
ORPHA:713 |
| Aapoaiv Amyloidosis |
|
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Pro... |
ORPHA:439232 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Nephrotic syndrome, Nephropathy, Proteinuria, Renal insufficiency, Focal segmenta... |
OMIM:254900 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Renal cell carcinoma, Elevated urinary epinephrine, Hematuria, Glomerular sclerosis, Elevated uri... |
ORPHA:29072 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2715 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Acute kidney injury, Myoglobinuria |
ORPHA:57 |
| Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Proteinuria |
OMIM:618886 |
| Nail-Patella Syndrome |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Abnormality of the kidney, Hematuria, Nephrit... |
ORPHA:2614 |
| Lymphedema-Distichiasis Syndrome |
|
Tubulointerstitial nephritis, Glomerulopathy, Renal duplication, Recurrent urinary tract infectio... |
ORPHA:33001 |
| Diffuse Alveolar Hemorrhage |
|
Proteinuria, Hematuria |
ORPHA:90060 |
| Renal Cysts And Diabetes Syndrome |
|
Stage 5 chronic kidney disease, Abnormality of the kidney, Glycosuria, Unilateral renal agenesis,... |
OMIM:137920 |
| Ohdo Syndrome |
|
Proteinuria |
OMIM:249620 |
| Glycogen Storage Disease Ib |
|
Enlarged kidney, Decreased glomerular filtration rate, Proteinuria, Focal segmental glomeruloscle... |
OMIM:232220 |
| Simple Cryoglobulinemia |
|
Nephrotic syndrome, Abnormality of the kidney, Membranoproliferative glomerulonephritis, Nephriti... |
ORPHA:91139 |
| Wilson Disease |
|
Aminoaciduria, Osteomalacia, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Increased ... |
OMIM:277900 |
| Osteootohepatoenteric Syndrome |
|
Proteinuria, Grade II vesicoureteral reflux, Reduced bone mineral density |
OMIM:619377 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Microscopic hematuria |
ORPHA:86818 |
| Pheochromocytoma |
|
Elevated urinary norepinephrine, Proteinuria, Renal artery stenosis |
OMIM:171300 |
| Malakoplakia |
|
Dysuria, Urinary urgency, Hematuria, Urinary bladder inflammation, Proteinuria, Urinary hesitancy |
ORPHA:556 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Nephrotic syndrome, Enlarged kidney, Nephritis, Proteinuria, Focal segment... |
OMIM:617303 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Proteinuria, Hematuria |
OMIM:192315 |
| Galloway-Mowat Syndrome |
|
Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:2065 |
| Legionnaires Disease |
|
Renal insufficiency, Hematuria, Proteinuria |
ORPHA:549 |
| Renal Nutcracker Syndrome |
|
Proteinuria, Hematuria, Renal artery stenosis, Microscopic hematuria |
ORPHA:71273 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Tubulointerstitial nephritis, Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency |
ORPHA:183 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria |
OMIM:251900 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria |
OMIM:620138 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Proximal tubulopathy, Nephrotic syndrome, Renal cyst, Osteopenia, Proteinuria |
OMIM:212065 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myoglobinuria, Red-brown urine |
ORPHA:228305 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Cystic... |
ORPHA:157 |
| Acquired Generalized Lipodystrophy |
|
Proteinuria, Unicameral bone cyst |
ORPHA:79086 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Tubulointerstitial nephritis, Polycystic kidney dysplasia, Cystic renal dysplasia, Dicarboxylic a... |
ORPHA:228308 |
| Arima Syndrome |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal sodium wasting, Polycystic kidney dy... |
OMIM:243910 |
| Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Hyperlysinuria, Abnormal renal tubule morphology, Ornithinuria, Oro... |
ORPHA:470 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
| Nail-Patella Syndrome |
|
Nephrotic syndrome, Hematuria, Glomerulonephritis, Proteinuria, Renal insufficiency |
OMIM:161200 |
| Donnai-Barrow Syndrome |
|
Non-acidotic proximal tubulopathy, Proteinuria |
OMIM:222448 |
| Gaucher Disease Type 3 |
|
Increased bone mineral density, Proteinuria, Hematuria, Osteolysis |
ORPHA:77261 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Nephritis, Early ossification of capital femoral epiphyses, Renal cyst, Proteinuria, Renal insuff... |
OMIM:208500 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Stage 5 chronic kidney disease, Hematuria, Nephropathy, Proteinuria, Chronic kidney disease |
ORPHA:1018 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Renal insufficiency, Mild proteinuria, Hypospadias |
OMIM:619147 |
| Galloway-Mowat Syndrome 3 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Glomerular sclerosis, Diffuse mesangial scler... |
OMIM:617729 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Nephrotic syndrome, Enlarged kidney, Proteinuria, Urinary glycosaminoglycan excretion, Heavy prot... |
ORPHA:505248 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Mild proteinuria |
OMIM:619685 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Osteoporosis, Myoglobinuria, Renal tubular acidosis |
ORPHA:79240 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Nephropathy, Proteinuria, Glomerular sclerosis |
ORPHA:247691 |
| Martin-Probst Syndrome |
|
Renal insufficiency, Micropenis, Proteinuria, Chordee |
OMIM:300519 |
| Spondyloenchondrodysplasia |
|
Proteinuria, Hematuria, Chronic kidney disease |
ORPHA:1855 |
| Hemorrhagic Fever-Renal Syndrome |
|
Tubulointerstitial nephritis, Anuria, Acute tubulointerstitial nephritis, Acute kidney injury, De... |
ORPHA:340 |
| Wagro Syndrome |
|
Nephroblastoma, Proteinuria |
OMIM:612469 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Osteoporosis, Myoglobinuria, Renal tubular acidosis |
ORPHA:264580 |
| Hellp Syndrome |
|
Acute kidney injury, Hemoglobinuria, Proteinuria |
ORPHA:244242 |
| Galloway-Mowat Syndrome 1 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Renal insufficiency, Focal segmenta... |
OMIM:251300 |
| Fabry Disease |
|
Glomerulopathy, Nephrotic syndrome, Abnormal renal tubule morphology, Hematuria, Nephropathy, Pro... |
ORPHA:324 |
| Lowe Oculocerebrorenal Syndrome |
|
Aminoaciduria, Osteomalacia, Stage 5 chronic kidney disease, Hyperphosphaturia, Proximal renal tu... |
OMIM:309000 |
| Lymphatic Filariasis |
|
Nephrotic syndrome, Abnormality of the kidney, Hematuria, Glomerulonephritis, Proteinuria, Urethr... |
ORPHA:2035 |
| Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria |
OMIM:610965 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Stage 5 chronic kidney disease, Enlarged kidney, Osteopenia, Proteinuria, Nephrocalcinosis, Tubul... |
ORPHA:79259 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Myoglobinuria |
OMIM:255125 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria |
ORPHA:71212 |
| Cornelia De Lange Syndrome 1 |
|
Vesicoureteral reflux, Renal cyst, Reduced renal corticomedullary differentiation, Hypospadias, E... |
OMIM:122470 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hemoglobinuria |
OMIM:194380 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Myoglobinuria |
OMIM:609015 |
| Cockayne Syndrome Type 1 |
|
Renal insufficiency, Proteinuria |
ORPHA:90321 |
| Agel Amyloidosis |
|
Stage 5 chronic kidney disease, Proteinuria |
ORPHA:85448 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Acute kidney injury, Hemoglobinuria, Glycosuria, Proteinuria, Hemosiderinuria, Renal insufficienc... |
ORPHA:447 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Aminoaciduria, Osteomalacia, Abnormal renal tubule morphology, Hematuria, Proxima... |
ORPHA:534 |
| Imerslund-Gräsbeck Syndrome |
|
Proteinuria |
ORPHA:35858 |
| Glycogen Storage Disease Ic |
|
Hematuria, Decreased glomerular filtration rate, Proteinuria, Renal insufficiency, Focal segmenta... |
OMIM:232240 |
| Melas |
|
Proximal tubulopathy, Proteinuria, Nephropathy, Focal segmental glomerulosclerosis |
ORPHA:550 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Myoglobinuria |
ORPHA:206549 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Myoglobinuria, Ketonuria |
OMIM:616878 |
| Gaucher Disease |
|
Increased bone mineral density, Hematuria, Osteolysis, Osteopenia, Abnormal bone structure, Prote... |
ORPHA:355 |
| Neuroleptic Malignant Syndrome |
|
Acute kidney injury, Urinary incontinence, Proteinuria, Myoglobinuria |
ORPHA:94093 |
| Gitelman Syndrome |
|
Tubulointerstitial nephritis, Urinary incontinence, Renal tubular acidosis, Nocturia, Focal segme... |
ORPHA:358 |
| Immunoglobulin A Vasculitis |
|
Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria |
ORPHA:761 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Hemoglobinuria |
OMIM:300908 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Myoglobinuria, Renal tubular acidosis |
ORPHA:370 |
| Orofaciodigital Syndrome Type 1 |
|
Hydronephrosis, Multicystic kidney dysplasia, Proteinuria, Renal insufficiency, Reduced bone mine... |
ORPHA:2750 |
| Cocaine Intoxication |
|
Tubulointerstitial nephritis, Acute kidney injury, Hematuria, Glomerulonephritis, Proteinuria |
ORPHA:90068 |
| Cockayne Syndrome B |
|
Ivory epiphyses of the phalanges of the hand, Micropenis, Proteinuria, Renal insufficiency, Osteo... |
OMIM:133540 |
| Aymé-Gripp Syndrome |
|
Proteinuria, Craniosynostosis |
ORPHA:1272 |
| Insulin-Resistance Syndrome Type B |
|
Glycosuria, Proteinuria, Nephritis |
ORPHA:2298 |
| Familial Mediterranean Fever |
|
Nephrocalcinosis, Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:342 |
| Bardet-Biedl Syndrome 20 |
|
Proteinuria, Micropenis |
OMIM:619471 |
| Malignant Hyperthermia Of Anesthesia |
|
Acute kidney injury, Myoglobinuria |
ORPHA:423 |
| Holoprosencephaly |
|
Abnormality of the urinary system, Proteinuria, Hypoplasia of penis |
ORPHA:2162 |
| Granulomatosis With Polyangiitis |
|
Glomerulopathy, Hematuria, Ureteral stenosis, Proteinuria, Renal insufficiency, Hydronephrosis |
ORPHA:900 |
| Pierson Syndrome |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Hyp... |
OMIM:609049 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Tubulointerstitial nephritis, Aminoaciduria, Renal Fanconi syndrome, Beta 2-microglobulinuria, Re... |
ORPHA:91500 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteolytic defects of the phalanges of the hand, Proteinuria, Focal segmental glomerulosclerosis,... |
OMIM:619127 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal tubular atrophy, Nephrotic syndrome, Decreased glomerular filtration rate, Proteinuria, Ren... |
OMIM:614748 |
| Cockayne Syndrome A |
|
Renal insufficiency, Ivory epiphyses of the phalanges of the hand, Micropenis, Proteinuria |
OMIM:216400 |
| Pearson Syndrome |
|
Glycosuria, Lacticaciduria, Renal cyst, Proteinuria, Renal insufficiency |
ORPHA:699 |
| Cockayne Syndrome |
|
Urinary incontinence, Nephrotic syndrome, Neurogenic bladder, Unilateral renal agenesis, Abnormal... |
ORPHA:191 |
| Goodpasture Syndrome |
|
Glomerular crescent formation, Cylindruria, Glomerulonephritis, Erythrocyte cylindruria, Macrosco... |
OMIM:233450 |
| Relapsing Polychondritis |
|
Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria |
ORPHA:728 |
| Williams Syndrome |
|
Vesicoureteral reflux, Renal duplication, Recurrent urinary tract infections, Increased bone mine... |
ORPHA:904 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Proteinuria, Reduced bone mineral density |
OMIM:616682 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Hemoglobinuria, Anuria |
ORPHA:90038 |
| Orofaciodigital Syndrome I |
|
Polycystic kidney dysplasia, Proteinuria |
OMIM:311200 |
| Postinfectious Vasculitis |
|
Glomerulonephritis, Proteinuria, Hematuria, Membranoproliferative glomerulonephritis |
ORPHA:48435 |
| Glycogen Storage Disease Xii |
|
Hemoglobinuria |
OMIM:611881 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Nephrotic range proteinuria, Anuria, Acute kidney injury, Decreased urine output, Oliguria |
ORPHA:544482 |
| Kawasaki Disease |
|
Sterile pyuria, Proteinuria |
ORPHA:2331 |
| Crimean-Congo Hemorrhagic Fever |
|
Proteinuria, Hematuria |
ORPHA:99827 |
| Pmm2-Cdg |
|
Nephrotic syndrome, Abnormal renal tubule morphology, Multiple renal cysts, Osteopenia, Proteinur... |
ORPHA:79318 |
