| Proteinuria, Chronic Benign |
|
Renal insufficiency, Albuminuria, Proteinuria |
OMIM:618884 |
| Uridine-Cytidineuria |
|
Elevated urinary cytidine |
OMIM:618477 |
| Sedoheptulokinase Deficiency |
|
Increased urinary sedoheptulose |
OMIM:617213 |
| Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
| Nephrotic Syndrome, Type 16 |
|
Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:617783 |
| Lipoprotein Glomerulopathy |
|
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria |
OMIM:611771 |
| Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:618177 |
| Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
| Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:301028 |
| Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... |
OMIM:618178 |
| Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Proteinuria |
ORPHA:419 |
| Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Micro... |
OMIM:601894 |
| Nephrotic Syndrome, Type 17 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... |
OMIM:618176 |
| Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... |
OMIM:256020 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
| Iga Nephropathy, Susceptibility To, 3 |
|
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr... |
OMIM:616818 |
| Nephrotic Syndrome, Type 23 |
|
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... |
OMIM:619201 |
| Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
| Focal Segmental Glomerulosclerosis 2 |
|
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... |
OMIM:603965 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency |
OMIM:607832 |
| Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria |
ORPHA:2613 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... |
OMIM:137950 |
| Nephrotic Syndrome, Type 15 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis |
OMIM:617609 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease |
OMIM:613944 |
| Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
| Renal Failure, Progressive, With Hypertension |
|
Nephritis, Renal insufficiency, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease |
OMIM:161900 |
| Myoglobinuria, Recurrent |
|
Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
| Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... |
OMIM:615008 |
| Focal Segmental Glomerulosclerosis 6 |
|
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... |
OMIM:614131 |
| Nephrotic Syndrome, Type 9 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:615573 |
| Indolylacroyl Glycinuria With Mental Retardation |
|
Hyperglycinuria |
OMIM:243050 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we... |
OMIM:308990 |
| Iminoglycinuria |
|
Hydroxyprolinuria, Prolinuria, Hyperglycinuria |
OMIM:242600 |
| Iminoglycinuria |
|
Hydroxyprolinuria, Prolinuria, Hyperglycinuria |
ORPHA:42062 |
| Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
| Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
| Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria |
OMIM:614652 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease |
OMIM:161950 |
| Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... |
OMIM:310468 |
| Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:600995 |
| Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
| Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Pr... |
ORPHA:54370 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis |
OMIM:614650 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Abnormal renal tubule morphology, Nephrotic syndrome, Proteinuria |
ORPHA:839 |
| Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... |
OMIM:610725 |
| Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis |
OMIM:614196 |
| Fibronectin Glomerulopathy |
|
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, G... |
ORPHA:84090 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephritis, Proteinuria, Stage 5 chron... |
OMIM:614817 |
| Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
| Galactosemia I |
|
Increased level of galactitol in urine, Albuminuria, Galactosuria, Aminoaciduria |
OMIM:230400 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Podocyte foot process effacement, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617006 |
| Denys-Drash Syndrome |
|
Nephrotic syndrome, Nephropathy, Nephroblastoma, Proteinuria |
ORPHA:220 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Renal tubular dysfunction, Ketonuria, Abnormality of the upper urinary tract, Glycosuria, Moderat... |
ORPHA:99885 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:613913 |
| Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury |
OMIM:160010 |
| Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Hematuria, Proteinuria |
ORPHA:2134 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... |
OMIM:611555 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
| Deafness And Myopia |
|
Hematuria, Proteinuria |
OMIM:221200 |
| Nephrotic Syndrome, Type 22 |
|
Nephrotic syndrome, Nephrotic range proteinuria, Thickened glomerular basement membrane, Podocyte... |
OMIM:619155 |
| Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:603278 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Hydronephrosis, Moderate albuminuria |
OMIM:619269 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Renal ins... |
ORPHA:567544 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... |
ORPHA:976 |
| Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Nephropathy, Hematuria, Proteinuria |
OMIM:105200 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:608709 |
| Nephrotic Syndrome, Type 8 |
|
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Thin glomer... |
OMIM:615244 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... |
OMIM:254900 |
| Galloway-Mowat Syndrome 8 |
|
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Protein... |
OMIM:618349 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... |
OMIM:614377 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Moderate albuminuria |
OMIM:614231 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Proteinuria |
OMIM:245900 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
| Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Hematuria, Proteinuria, Abnormal renal physiology |
OMIM:123550 |
| Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Glycosuria, Aminoaciduria, Low-molecular-weight proteinuria |
OMIM:615605 |
| Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency |
OMIM:261670 |
| Dent Disease 2 |
|
Chronic kidney disease, Aminoaciduria, Low-molecular-weight proteinuria, Hypercalciuria, Proximal... |
OMIM:300555 |
| Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Proteinuria, Renal insufficiency, Lacticaci... |
OMIM:134600 |
| Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria |
OMIM:261100 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Enlarged... |
OMIM:613496 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2668 |
| Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Decreased glomerular filtration rate, Abnormal renal physiology, Abnormal... |
ORPHA:94088 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Membranoproliferative glomerulonephritis, Microscopic hematuria, Moderate albuminuria |
OMIM:619525 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
| C3 Glomerulopathy |
|
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... |
ORPHA:329918 |
| Renal Hypoplasia |
|
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... |
ORPHA:93101 |
| Acquired Partial Lipodystrophy |
|
Glomerulopathy, Microscopic hematuria, Proteinuria |
ORPHA:79087 |
| Alport Syndrome 2, Autosomal Recessive |
|
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Proteinuria, Re... |
OMIM:203780 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Chronic kidney disease, Macroscopic hematuria, Focal segmental glomerulosclerosis, Microscopic he... |
ORPHA:567546 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Dysuria, Abnormal penis morphology, Hematuria, Moderate albuminuria, Acute kidney injury, Renal t... |
ORPHA:95455 |
| Fechtner syndrome |
|
Proteinuria, Nephritis, Hematuria, Stage 5 chronic kidney disease |
OMIM:153640 |
| Al Amyloidosis |
|
Nephrotic syndrome, Renal interstitial amyloid deposits, Abnormality of the kidney, Proteinuria, ... |
ORPHA:85443 |
| Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:618913 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinu... |
ORPHA:656 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hematuria, Acute kidney injury, Proteinuria, Anuria, Stage 5 chronic kidney disease, Hemolytic-ur... |
OMIM:612925 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Renal amyloidosis |
OMIM:134610 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome |
OMIM:612924 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome |
OMIM:612926 |
| Glycogen Storage Disease Xi |
|
Myoglobinuria, Renal insufficiency |
OMIM:612933 |
| Lcat Deficiency |
|
Decreased glomerular filtration rate, Renal insufficiency, Proteinuria, Acute kidney injury, Stag... |
ORPHA:650 |
| Glycogen Storage Disease V |
|
Dark urine, Myoglobinuria |
OMIM:232600 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome |
OMIM:612922 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Mucopolysacchariduria, Nephrotic syndrome, Proteinuria |
OMIM:215250 |
| Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Acute kidney injury, Hematuria, Proteinuria |
ORPHA:54057 |
| Galloway-Mowat Syndrome 5 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis |
OMIM:617731 |
| Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:225 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Abnormal ureter morphology, Nephrotic range proteinuria, Urethritis, Uret... |
ORPHA:449395 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria |
OMIM:620010 |
| Anti-Glomerular Basement Membrane Disease |
|
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy |
ORPHA:375 |
| Cednik Syndrome |
|
Nephrotic syndrome, Proteinuria |
ORPHA:66631 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Hypospadias, Hydronephrosis, Renal cortical microcysts, Albuminuria |
OMIM:214100 |
| Systemic Sclerosis |
|
Chronic kidney disease, Abnormality of the kidney, Renal insufficiency, Proteinuria, Acute kidney... |
ORPHA:90291 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Nephrotic syndrome, Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Minimal ch... |
OMIM:301006 |
| Dent Disease |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... |
ORPHA:1652 |
| Preeclampsia |
|
Abnormality of the kidney, Chronic kidney disease, Acute kidney injury, Proteinuria |
ORPHA:275555 |
| Aa Amyloidosis |
|
Chronic kidney disease, Nephrotic syndrome, Abnormality of the kidney, Nephropathy, Enlarged kidn... |
ORPHA:85445 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:2364 |
| Dent Disease 1 |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Glycosuria, Low-... |
OMIM:300009 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury |
OMIM:268200 |
| Alport Syndrome 3, Autosomal Dominant |
|
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... |
OMIM:104200 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal glomerular visceral epithelial cell ... |
ORPHA:567548 |
| Alagille Syndrome 2 |
|
Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Renal insufficiency, Proteinuria |
OMIM:610205 |
| Nephrotic Syndrome, Type 11 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... |
OMIM:616730 |
| Galloway-Mowat Syndrome 4 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Glo... |
OMIM:617730 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephrotic syndrome, Nephropathy, Proteinuria |
ORPHA:1192 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Myoglobinuria, Red-brown urine, Tubulointerstitial nephritis, Renal insufficiency, Renal tubular ... |
ORPHA:228302 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Bilateral renal atrophy, Proteinuria, Stage 5 chronic kidney disease |
OMIM:166300 |
| Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
| Galloway-Mowat Syndrome 10 |
|
Podocyte foot process effacement, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidne... |
OMIM:619609 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
| Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Proteinuria, Renal artery stenosis |
OMIM:209010 |
| Myh9-Related Disease |
|
Renal insufficiency, Nephropathy, Nephritis, Proteinuria |
ORPHA:182050 |
| Frasier Syndrome |
|
Nephrotic syndrome, Nephroblastoma, Focal segmental glomerulosclerosis, Renal insufficiency, Prot... |
ORPHA:347 |
| Nephrotic Syndrome, Type 1 |
|
Congenital nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Renal insuffic... |
OMIM:256300 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Glycosuria, Proteinuria, Hyperphosphaturia, Nephrocalcinosis |
OMIM:616026 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Proteinuria, Vesicoureteral re... |
ORPHA:261222 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Abnormal renal physiology, Nephropathy, Hematuria, Thickened glomerular basement membrane, Renal ... |
OMIM:308940 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Renal tubular acidosis, Aminoaciduria, Nephropathy, Glycosuria, Proteinuria, Nephrocalcinosis |
OMIM:613404 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Proximal renal tubular ac... |
OMIM:146255 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Nephropathy, Hematuria, Proteinuria |
ORPHA:1765 |
| Galloway-Mowat Syndrome 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria |
OMIM:618347 |
| Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Chronic kidney disease, Bicarbonate-wasting renal tubular acidosis, Incr... |
ORPHA:3337 |
| Alport Syndrome 1, X-Linked |
|
Nephrotic syndrome, Nephritis, Thickened glomerular basement membrane, Proteinuria, Renal insuffi... |
OMIM:301050 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Chronic kidney disease, Recurrent myoglobinuria, Acute kidney injury, Exercise-induce... |
ORPHA:368 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Abnormality of the kidney, Proteinuria |
ORPHA:369 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:619858 |
| Alport Syndrome |
|
Nephrotic syndrome, Renal glomerular foam cells, Mesangial hypercellularity, Nephritis, Thickenin... |
ORPHA:63 |
| Galloway-Mowat Syndrome 7 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... |
OMIM:618348 |
| Nephrotic Syndrome, Type 14 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomerulosclerosis, ... |
OMIM:617575 |
| Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Proteinuria, Increased urinary O-linked sialope... |
OMIM:256550 |
| Paroxysmal Cold Hemoglobinuria |
|
Abnormal urinary color, Hemoglobinuria |
ORPHA:90035 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Proteinuria, Renal salt wasting |
OMIM:613845 |
| Oligomeganephronia |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesis, Bilateral... |
ORPHA:2260 |
| Becker Muscular Dystrophy |
|
Abnormal urinary color, Myoglobinuria |
ORPHA:98895 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Low-molecular-weight proteinuri... |
OMIM:300554 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Elevated urinary norepinephrine |
OMIM:171420 |
| Papillorenal Syndrome |
|
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi... |
OMIM:120330 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Glomerulonephritis, Stage 5 ... |
OMIM:614376 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Proteinuria, Aminoaciduria |
OMIM:603585 |
| Cystinosis |
|
Renal tubular dysfunction, Aminoaciduria, Nephropathy, Proteinuria, Renal insufficiency |
ORPHA:213 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Proteinuria, Hyperp... |
ORPHA:436271 |
| Free Sialic Acid Storage Disease |
|
Nephrotic syndrome, Proteinuria |
ORPHA:834 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Nephrotic syndrome, Hypospadias, Proteinuria, Glomerulonephritis, Glomerular sclerosis |
OMIM:619428 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria |
ORPHA:2774 |
| Renal Agenesis |
|
Renal agenesis, Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age... |
ORPHA:411709 |
| Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Glycosuria, Abnormal urine potass... |
ORPHA:411634 |
| Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Decreased glomerular filtration rate, Macroscopic hematuria, Glomeru... |
ORPHA:93126 |
| Heme Oxygenase 1 Deficiency |
|
Nephritis, Hematuria, Proteinuria |
OMIM:614034 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Exercise-induced myoglobinuria |
OMIM:300653 |
| Renal Hypodysplasia/Aplasia 1 |
|
Bilateral renal agenesis, Proteinuria, Renal dysplasia |
OMIM:191830 |
| Wild Type Attr Amyloidosis |
|
Renal insufficiency, Nephrotic syndrome, Nephropathy, Proteinuria |
ORPHA:330001 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Renal interstiti... |
ORPHA:85450 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Proteinuria, Hyperp... |
OMIM:220110 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Elevated urinary dopamine, Hematuria, Proteinuria, Elevated urinary epinephrine, Elevated urinary... |
ORPHA:276621 |
| Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency |
ORPHA:91138 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria |
ORPHA:119 |
| Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Proteinuria |
ORPHA:69126 |
| Proximal Renal Tubular Acidosis |
|
Nephrolithiasis, Aminoaciduria, Hyperuricosuria, Glycosuria, Global proximal tubulopathy, Low-mol... |
ORPHA:47159 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Myoglobinuria |
OMIM:231530 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Nephrotic syndrome, Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Heavy prote... |
ORPHA:255249 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Glo... |
OMIM:607426 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic aciduria, Homocystinuria, Nephropathy, Hematuria, Renal insufficiency, Proteinuria,... |
OMIM:277400 |
| Distal Renal Tubular Acidosis |
|
Nephrolithiasis, Aminoaciduria, Decreased glomerular filtration rate, Low-molecular-weight protei... |
ORPHA:18 |
| Donnai-Barrow Syndrome |
|
Proteinuria |
ORPHA:2143 |
| Genetic Recurrent Myoglobinuria |
|
Dark urine, Recurrent myoglobinuria, Oliguria, Acute kidney injury, Renal insufficiency, Exercise... |
ORPHA:99845 |
| Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Nephrotic syndrome, Nephritis, Abnormality of the urinary system, Hematuria, Proteinu... |
ORPHA:93552 |
| Ddost-Cdg |
|
Nephrotic range proteinuria |
ORPHA:300536 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microscopic hematuria, Hemolytic-uremic syndrome, Proteinuria, Abnormal renal physiology |
OMIM:274150 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria |
OMIM:145600 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:713 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Renal Fanconi syndrome, Glycosuria, Proteinuria |
ORPHA:263455 |
| Fabry Disease |
|
Renal insufficiency, Lipiduria, Urinary mulberry cells, Proteinuria |
OMIM:301500 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Renal hypoplasia, Proteinuria |
ORPHA:1307 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Chronic kidney disease, Nephrotic syndrome, Decreased glomerular filtration rate, Tubulointerstit... |
ORPHA:488627 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Myoglobinuria, Acute kidney injury |
ORPHA:57 |
| Aapoaiv Amyloidosis |
|
Chronic kidney disease, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, P... |
ORPHA:439232 |
| Hypocomplementemic Urticarial Vasculitis |
|
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency |
ORPHA:36412 |
| Schimke Immuno-Osseous Dysplasia |
|
Nephrotic range proteinuria, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Micros... |
ORPHA:1830 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Elevated urinary dopamine, Hematuria, Renal cell carcinoma, Proteinuria, Elevated urinary epineph... |
ORPHA:29072 |
| Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Proteinuria |
OMIM:618886 |
| Lymphedema-Distichiasis Syndrome |
|
Recurrent urinary tract infections, Renal duplication, Tubulointerstitial nephritis, Proteinuria,... |
ORPHA:33001 |
| Renal Cysts And Diabetes Syndrome |
|
Nephrolithiasis, Unilateral renal agenesis, Abnormality of the kidney, Hypospadias, Glycosuria, A... |
OMIM:137920 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney |
ORPHA:251004 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency |
ORPHA:86818 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:2715 |
| Diffuse Alveolar Hemorrhage |
|
Hematuria, Proteinuria |
ORPHA:90060 |
| Ohdo Syndrome |
|
Proteinuria |
OMIM:249620 |
| Pheochromocytoma |
|
Proteinuria, Elevated urinary norepinephrine, Renal artery stenosis |
OMIM:171300 |
| Malakoplakia |
|
Dysuria, Urinary urgency, Hematuria, Urinary hesitancy, Proteinuria, Urinary bladder inflammation |
ORPHA:556 |
| Simple Cryoglobulinemia |
|
Nephrotic syndrome, Mesangial hypercellularity, Nephritis, Abnormality of the kidney, Membranopro... |
ORPHA:91139 |
| Aicardi-Goutieres Syndrome 9 |
|
Micropenis, Recurrent urinary tract infections, Hyperechogenic kidneys, Thickened glomerular base... |
OMIM:619487 |
| Schimke Immunoosseous Dysplasia |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5... |
OMIM:242900 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Nephrotic syndrome, Nephritis, Renal tubular atrophy, Enlarged kidney, Focal segmental glomerulos... |
OMIM:617303 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hematuria, Proteinuria |
OMIM:192315 |
| Infantile Nephropathic Cystinosis |
|
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal Fan... |
ORPHA:411629 |
| Galloway-Mowat Syndrome |
|
Nephrotic syndrome, Nephropathy, Proteinuria |
ORPHA:2065 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Myoglobinuria |
OMIM:255125 |
| Majeed Syndrome |
|
Glomerulopathy, Microscopic hematuria, Proteinuria |
ORPHA:77297 |
| Legionnaires Disease |
|
Renal insufficiency, Hematuria, Proteinuria |
ORPHA:549 |
| Renal Nutcracker Syndrome |
|
Microscopic hematuria, Hematuria, Proteinuria, Renal artery stenosis |
ORPHA:71273 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Multiple bladder diverticula, Proteinuria |
ORPHA:2728 |
| Cystinosis, Nephropathic |
|
Nephrolithiasis, Medullary nephrocalcinosis, Aminoaciduria, Polyuria, Glycosuria, Hematuria, Low-... |
OMIM:219800 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Hematuria, Tubulointerstitial nephritis, Proteinuria, Renal insufficiency, Glomerulopathy |
ORPHA:183 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Tubulointerstitial nephritis, Polycystic ... |
ORPHA:157 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myoglobinuria, Red-brown urine |
ORPHA:228305 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Dicarboxylic aciduria, Tubulointerstitial... |
ORPHA:228308 |
| Galloway-Mowat Syndrome 3 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Glo... |
OMIM:617729 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypospadias, Mild proteinuria, Renal insufficiency |
OMIM:619147 |
| Nail-Patella Syndrome |
|
Nephrotic syndrome, Hematuria, Renal insufficiency, Proteinuria, Glomerulonephritis |
OMIM:161200 |
| Glycogen Storage Disease Ia |
|
Nephrolithiasis, Decreased glomerular filtration rate, Enlarged kidney, Focal segmental glomerulo... |
OMIM:232200 |
| Donnai-Barrow Syndrome |
|
Proteinuria, Non-acidotic proximal tubulopathy |
OMIM:222448 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Chronic kidney disease, Nephropathy, Hematuria, Proteinuria, Stage 5 chronic kidney disease |
ORPHA:1018 |
| Nail-Patella Syndrome |
|
Nephrotic syndrome, Nephritis, Abnormality of the kidney, Hematuria, Thickened glomerular basemen... |
ORPHA:2614 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Nephrotic syndrome, Heparan sulfate excretion in urine, Enlarged kidney, Urinary glycosaminoglyca... |
ORPHA:505248 |
| Martin-Probst Syndrome |
|
Renal insufficiency, Chordee, Proteinuria, Micropenis |
OMIM:300519 |
| Wilson Disease |
|
Renal tubular dysfunction, Nephrolithiasis, Aminoaciduria, Glycosuria, Hypercalciuria, Proteinuri... |
OMIM:277900 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Mild proteinuria |
OMIM:619685 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Nephropathy, Proteinuria, Glomerular sclerosis |
ORPHA:247691 |
| Glycogen Storage Disease Ic |
|
Decreased glomerular filtration rate, Hematuria, Focal segmental glomerulosclerosis, Proteinuria,... |
OMIM:232240 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome |
|
Nephroblastoma, Proteinuria |
OMIM:612469 |
| Glycogen Storage Disease Ib |
|
Nephrolithiasis, Decreased glomerular filtration rate, Enlarged kidney, Focal segmental glomerulo... |
OMIM:232220 |
| Spondyloenchondrodysplasia |
|
Chronic kidney disease, Hematuria, Proteinuria |
ORPHA:1855 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Renal cyst, Nephrotic syndrome, Proteinuria, Proximal tubulopathy |
OMIM:212065 |
| Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Decreased glomerular filtration rate, Glomerulonephritis, Hematuria, Olig... |
ORPHA:340 |
| Hellp Syndrome |
|
Hemoglobinuria, Acute kidney injury, Proteinuria |
ORPHA:244242 |
| Gaucher Disease Type 1 |
|
Hematuria, Proteinuria |
ORPHA:77259 |
| Lymphatic Filariasis |
|
Nephrotic syndrome, Urethral obstruction, Abnormality of the kidney, Hematuria, Proteinuria, Glom... |
ORPHA:2035 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hemoglobinuria |
OMIM:194380 |
| Galloway-Mowat Syndrome 1 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... |
OMIM:251300 |
| Osteootohepatoenteric Syndrome |
|
Proteinuria, Grade II vesicoureteral reflux |
OMIM:619377 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Chronic kidney disease, Nephritis, Renal cyst, Proteinuria, Renal insufficiency |
OMIM:208500 |
| Lysinuric Protein Intolerance |
|
Argininuria, Oroticaciduria, Decreased glomerular filtration rate, Abnormal renal tubule morpholo... |
ORPHA:470 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Hemoglobinuria, Glycosuria, Renal Fanconi syndrome, Proteinuria, Renal in... |
ORPHA:447 |
| Imerslund-Gräsbeck Syndrome |
|
Proteinuria |
ORPHA:35858 |
| Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria |
OMIM:610965 |
| Cockayne Syndrome Type 1 |
|
Renal insufficiency, Proteinuria |
ORPHA:90321 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Myoglobinuria |
ORPHA:71212 |
| Agel Amyloidosis |
|
Proteinuria, Stage 5 chronic kidney disease |
ORPHA:85448 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Myoglobinuria |
OMIM:609015 |
| Cornelia De Lange Syndrome 1 |
|
Reduced renal corticomedullary differentiation, Hypospadias, Abnormal renal morphology, Renal cys... |
OMIM:122470 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Hemoglobinuria |
OMIM:300908 |
| Melas |
|
Focal segmental glomerulosclerosis, Nephropathy, Proteinuria, Proximal tubulopathy |
ORPHA:550 |
| Immunoglobulin A Vasculitis |
|
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency |
ORPHA:761 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Myoglobinuria |
ORPHA:206549 |
| Gitelman Syndrome |
|
Renal tubular acidosis, Nocturia, Focal segmental glomerulosclerosis, Renal Fanconi syndrome, Tub... |
ORPHA:358 |
| Lowe Oculocerebrorenal Syndrome |
|
Aminoaciduria, Proximal renal tubular acidosis, Renal Fanconi syndrome, Bicarbonaturia, Proteinur... |
OMIM:309000 |
| Neuroleptic Malignant Syndrome |
|
Acute kidney injury, Myoglobinuria, Proteinuria, Urinary incontinence |
ORPHA:94093 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Myoglobinuria |
OMIM:616878 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Myoglobinuria, Renal tubular acidosis |
ORPHA:79240 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Myoglobinuria, Renal tubular acidosis |
ORPHA:370 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Nephrolithiasis, Oligosacchariduria, Aminoaciduria, Abnormal renal tubule morphology, Proximal re... |
ORPHA:534 |
| Acquired Generalized Lipodystrophy |
|
Proteinuria |
ORPHA:79086 |
| Cocaine Intoxication |
|
Hematuria, Tubulointerstitial nephritis, Acute kidney injury, Proteinuria, Glomerulonephritis |
ORPHA:90068 |
| Fabry Disease |
|
Nephrotic syndrome, Abnormal renal tubule morphology, Nephropathy, Hematuria, Proteinuria, Renal ... |
ORPHA:324 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Myoglobinuria, Renal tubular acidosis |
ORPHA:264580 |
| Insulin-Resistance Syndrome Type B |
|
Nephritis, Glycosuria, Proteinuria |
ORPHA:2298 |
| Bardet-Biedl Syndrome 20 |
|
Proteinuria, Micropenis |
OMIM:619471 |
| Malignant Hyperthermia Of Anesthesia |
|
Myoglobinuria, Acute kidney injury |
ORPHA:423 |
| Familial Mediterranean Fever |
|
Nephrocalcinosis, Nephrotic syndrome, Nephropathy, Proteinuria |
ORPHA:342 |
| Holoprosencephaly |
|
Abnormality of the urinary system, Hypoplasia of penis, Proteinuria |
ORPHA:2162 |
| Gaucher Disease Type 3 |
|
Hematuria, Proteinuria |
ORPHA:77261 |
| Pierson Syndrome |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Hyperechogenic kidneys, Proteinuria, Stage 5 chr... |
OMIM:609049 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Focal segmental ... |
OMIM:614748 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal lymphocytic tubulitis, Aminoaciduria, Decreased glomerular filtration rate, Sterile pyuria,... |
ORPHA:91500 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrolithiasis, Tubulointerstitial fibrosis, Enlarged kidney, Proteinuria, Nephrocalcinosis, Sta... |
ORPHA:79259 |
| Granulomatosis With Polyangiitis |
|
Ureteral stenosis, Hematuria, Proteinuria, Renal insufficiency, Hydronephrosis, Glomerulopathy |
ORPHA:900 |
| Goodpasture Syndrome |
|
Cylindruria, Macroscopic hematuria, Glomerular crescent formation, Renal insufficiency, Proteinur... |
OMIM:233450 |
| Pearson Syndrome |
|
Glycosuria, Renal cyst, Renal insufficiency, Proteinuria, Lacticaciduria |
ORPHA:699 |
| Cockayne Syndrome |
|
Nephrotic syndrome, Abnormal renal physiology, Unilateral renal agenesis, Renal hypoplasia, Prote... |
ORPHA:191 |
| Aymé-Gripp Syndrome |
|
Proteinuria |
ORPHA:1272 |
| Relapsing Polychondritis |
|
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency |
ORPHA:728 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hemoglobinuria, Acute kidney injury, Anuria |
ORPHA:90038 |
| Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis |
ORPHA:2750 |
| Orofaciodigital Syndrome I |
|
Polycystic kidney dysplasia, Proteinuria |
OMIM:311200 |
| Cockayne Syndrome B |
|
Renal insufficiency, Proteinuria, Micropenis |
OMIM:133540 |
| Cockayne Syndrome A |
|
Renal insufficiency, Proteinuria, Micropenis |
OMIM:216400 |
| Postinfectious Vasculitis |
|
Glomerulonephritis, Membranoproliferative glomerulonephritis, Hematuria, Proteinuria |
ORPHA:48435 |
| Glycogen Storage Disease Xii |
|
Hemoglobinuria |
OMIM:611881 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Nephrotic range proteinuria, Oliguria, Acute kidney injury, Decreased urine output, Anuria |
ORPHA:544482 |
| Williams Syndrome |
|
Nephrolithiasis, Bladder diverticulum, Hypoplasia of penis, Recurrent urinary tract infections, R... |
ORPHA:904 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Focal segmental glomerulosclerosis, Proteinuria |
OMIM:619127 |
| Gaucher Disease |
|
Hematuria, Proteinuria |
ORPHA:355 |
| Kawasaki Disease |
|
Sterile pyuria, Proteinuria |
ORPHA:2331 |
| Crimean-Congo Hemorrhagic Fever |
|
Hematuria, Proteinuria |
ORPHA:99827 |
| Pmm2-Cdg |
|
Abnormal renal tubule morphology, Nephrotic syndrome, Multiple renal cysts, Proteinuria |
ORPHA:79318 |
