| Proteinuria, Chronic Benign |
|
Albuminuria, Proteinuria |
OMIM:618884 |
| Uridine-Cytidineuria |
|
Elevated uridine in urine, Elevated urinary cytidine |
OMIM:618477 |
| Sedoheptulokinase Deficiency |
|
Increased urinary sedoheptulose |
OMIM:617213 |
| Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
| Nephrotic Syndrome, Type 16 |
|
Proteinuria, Hematuria, Nephrotic syndrome |
OMIM:617783 |
| Lipoprotein Glomerulopathy |
|
Mesangial hypercellularity, Renal insufficiency, Proteinuria, Glomerulopathy |
OMIM:611771 |
| Schizophrenia 19 |
|
Cognitive impairment |
OMIM:617629 |
| Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
| Nephrotic Syndrome, Type 18 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:618177 |
| Focal Segmental Glomerulosclerosis 8 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:616032 |
| Nephrotic Syndrome, Type 20 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:301028 |
| Nephrotic Syndrome, Type 19 |
|
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... |
OMIM:618178 |
| Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Proteinuria |
ORPHA:419 |
| Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... |
OMIM:616002 |
| Nephrotic Syndrome, Type 17 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... |
OMIM:618176 |
| Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... |
OMIM:256020 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:614199 |
| Iga Nephropathy, Susceptibility To, 3 |
|
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercellu... |
OMIM:616818 |
| Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... |
OMIM:619201 |
| Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr... |
OMIM:603965 |
| Focal Segmental Glomerulosclerosis 5 |
|
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... |
OMIM:613237 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Hematuria, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:607832 |
| Nail-Patella-Like Renal Disease |
|
Microscopic hematuria, Renal insufficiency, Proteinuria, Glomerulopathy |
ORPHA:2613 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... |
OMIM:137950 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria |
OMIM:613944 |
| Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
| Nephrotic Syndrome, Type 15 |
|
Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:617609 |
| Renal Failure, Progressive, With Hypertension |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephritis, Proteinuria |
OMIM:161900 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal cell carcinoma,... |
OMIM:601894 |
| Myoglobinuria, Recurrent |
|
Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
| Nephrotic Syndrome, Type 7 |
|
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... |
OMIM:615008 |
| Heme Oxygenase 1 Deficiency |
|
Hematuria, Proteinuria |
OMIM:614034 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Nep... |
OMIM:614131 |
| Indolylacroyl Glycinuria With Mental Retardation |
|
Hyperglycinuria |
OMIM:243050 |
| Nephrotic Syndrome, Type 9 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:615573 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler... |
OMIM:308990 |
| Iminoglycinuria |
|
Hyperglycinuria, Hydroxyprolinuria, Prolinuria |
OMIM:242600 |
| Iminoglycinuria |
|
Hyperglycinuria, Hydroxyprolinuria, Prolinuria |
ORPHA:42062 |
| Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
| Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Nephrotic syndrome |
OMIM:614652 |
| Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
| Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria |
OMIM:161950 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... |
OMIM:310468 |
| Nephrotic Syndrome, Type 2 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:600995 |
| Primary Membranoproliferative Glomerulonephritis |
|
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... |
ORPHA:54370 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:614650 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
| Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Abnormal renal tubule morphology, Proteinuria, Nephrotic syndrome |
ORPHA:839 |
| Galactosemia I |
|
Increased level of galactitol in urine, Albuminuria, Galactosuria, Aminoaciduria |
OMIM:230400 |
| Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis |
OMIM:614196 |
| Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse m... |
OMIM:610725 |
| Fibronectin Glomerulopathy |
|
Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Nephrotic syndro... |
ORPHA:84090 |
| Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Renal insufficiency, Myoglobinuria |
OMIM:255110 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Hematuria, Glycosuria, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... |
OMIM:614817 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
| Denys-Drash Syndrome |
|
Nephroblastoma, Proteinuria, Nephropathy, Nephrotic syndrome |
ORPHA:220 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Proteinuria, Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome |
OMIM:617006 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Ketonuria, Glycosuria, Abnormality of the upper urinary tract, Renal tubula... |
ORPHA:99885 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome |
OMIM:613913 |
| Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Myoglobinuria |
OMIM:160010 |
| Atypical Hemolytic Uremic Syndrome |
|
Hematuria, Acute kidney injury, Proteinuria |
ORPHA:2134 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... |
OMIM:611555 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
| Fanconi Renotubular Syndrome 3 |
|
Proteinuria, Aminoaciduria, Hyperphosphaturia, Glycosuria |
OMIM:615605 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Recurrent urinary tract infections, Decr... |
ORPHA:730 |
| Glycogen Storage Disease V |
|
Dark urine, Myoglobinuria |
OMIM:232600 |
| Nephrotic Syndrome, Type 22 |
|
Podocyte foot process effacement, Nephrotic range proteinuria, Glomerular sclerosis, Microscopic ... |
OMIM:619155 |
| Amyloidosis, Familial Visceral |
|
Hematuria, Proteinuria, Nephropathy, Nephrotic syndrome |
OMIM:105200 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Hydronephrosis |
OMIM:619269 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... |
ORPHA:976 |
| Deafness And Myopia |
|
Hematuria, Proteinuria |
OMIM:221200 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Acute kidney injury, Abnormal glomerular mesangium morphology, Glomerulonephritis, Microscopic he... |
ORPHA:567544 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome |
OMIM:608709 |
| Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:603278 |
| Nephrotic Syndrome, Type 8 |
|
Thin glomerular basement membrane, Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial ... |
OMIM:615244 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Focal segmental glomerulosclerosis, Nephropathy, Glomerulopathy, Nephrotic syndrome, Renal insuff... |
OMIM:254900 |
| Glycogen Storage Disease X |
|
Renal insufficiency, Myoglobinuria |
OMIM:261670 |
| Galloway-Mowat Syndrome 8 |
|
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Protein... |
OMIM:618349 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Moderate albuminuria |
OMIM:614231 |
| Frasier Syndrome |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:136680 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Proteinuria |
OMIM:245900 |
| Dent Disease 2 |
|
Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercalciuria, Chronic ki... |
OMIM:300555 |
| Fanconi Renotubular Syndrome 1 |
|
Lacticaciduria, Aminoaciduria, Glycosuria, Renal insufficiency, Renal tubular dysfunction, Protei... |
OMIM:134600 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulopathy |
ORPHA:2668 |
| Cryoglobulinemia, Familial Mixed |
|
Abnormal renal physiology, Hematuria, Chronic kidney disease, Proteinuria |
OMIM:123550 |
| Glycogen Storage Disease, Type Ixd |
|
Exercise-induced myoglobinuria |
OMIM:300559 |
| Immunodeficiency, Common Variable, 6 |
|
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glomerulonephr... |
OMIM:613496 |
| Renal Hypoplasia |
|
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... |
ORPHA:93101 |
| C3 Glomerulopathy |
|
Hematuria, Acute kidney injury, Membranoproliferative glomerulonephritis, Chronic kidney disease,... |
ORPHA:329918 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:614455 |
| Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria |
OMIM:261100 |
| Acquired Partial Lipodystrophy |
|
Microscopic hematuria, Proteinuria, Glomerulopathy |
ORPHA:79087 |
| Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Hematuria, Glomerular basement membrane lamellation, Stage 5 chronic kidney ... |
OMIM:203780 |
| Hereditary Renal Hypouricemia |
|
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... |
ORPHA:94088 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Dysuria, Hematuria, Acute kidney injury, Abnormal penis morphology, Renal tubular epithelial necr... |
ORPHA:95455 |
| Glycogen Storage Disease Xi |
|
Renal insufficiency, Myoglobinuria |
OMIM:612933 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Aminoaciduria, Glycosuria, Nephrocalcinosis, Proteinuria |
OMIM:616026 |
| Lcat Deficiency |
|
Renal insufficiency, Hematuria, Proteinuria |
ORPHA:650 |
| Fanconi Renotubular Syndrome 5 |
|
Tubulointerstitial fibrosis, Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria |
OMIM:618913 |
| Nephronophthisis 13 |
|
Renal hypoplasia, Nephronophthisis, Mild proteinuria, Stage 5 chronic kidney disease |
OMIM:614377 |
| Fechtner syndrome |
|
Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:153640 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Albuminuria, Focal segmental glomerulosclerosis, Microscopic hematuria, Macroscopic hematuria, Ch... |
ORPHA:567546 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Renal amyloidosis, Proteinuria |
OMIM:134610 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Nephropathy, Proteinuria |
OMIM:166300 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria |
OMIM:612925 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria |
OMIM:612924 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria |
OMIM:612926 |
| Al Amyloidosis |
|
Albuminuria, Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney, Renal interstiti... |
ORPHA:85443 |
| Galloway-Mowat Syndrome 5 |
|
Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:617731 |
| Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Hematuria, Acute kidney injury, Proteinuria |
ORPHA:54057 |
| Maternally-Inherited Diabetes And Deafness |
|
Renal insufficiency, Proteinuria, Glomerulopathy |
ORPHA:225 |
| Igg4-Related Kidney Disease |
|
Ureteral obstruction, Hematuria, Acute kidney injury, Albuminuria, Enlarged kidney, Abnormal uret... |
ORPHA:449395 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Mucopolysacchariduria, Proteinuria, Nephrotic syndrome |
OMIM:215250 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Stage 5 chronic kidney disease, Proteinuria |
OMIM:219900 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Albuminuria, Aminoaciduria, Hydronephrosis, Hypospadias, Renal cortical microcysts |
OMIM:214100 |
| Cednik Syndrome |
|
Proteinuria, Nephrotic syndrome |
ORPHA:66631 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerul... |
OMIM:301006 |
| Preeclampsia |
|
Abnormality of the kidney, Chronic kidney disease, Acute kidney injury, Proteinuria |
ORPHA:275555 |
| Dent Disease |
|
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... |
ORPHA:1652 |
| Anti-Glomerular Basement Membrane Disease |
|
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy |
ORPHA:375 |
| Aa Amyloidosis |
|
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Chronic kidney disease, Nep... |
ORPHA:85445 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Renal insufficiency, Myoglobinuria |
ORPHA:2364 |
| Systemic Sclerosis |
|
Acute kidney injury, Albuminuria, Glomerulonephritis, Chronic kidney disease, Renal insufficiency... |
ORPHA:90291 |
| Dent Disease 1 |
|
Renal phosphate wasting, Low-molecular-weight proteinuria, Hyperphosphaturia, Proximal tubulopath... |
OMIM:300009 |
| Alport Syndrome 3, Autosomal Dominant |
|
Renal insufficiency, Hematuria, Glomerulonephritis, Glomerular basement membrane lamellation, Sta... |
OMIM:104200 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Myoglobinuria |
OMIM:268200 |
| Alagille Syndrome 2 |
|
Hematuria, Renal hypoplasia, Renal tubular acidosis, Renal cyst, Renal insufficiency, Proteinuria |
OMIM:610205 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnormal glomerular viscera... |
ORPHA:567548 |
| Nephrotic Syndrome, Type 11 |
|
Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic ki... |
OMIM:616730 |
| Galloway-Mowat Syndrome 4 |
|
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mesangial scler... |
OMIM:617730 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Nephropathy, Nephrotic syndrome |
ORPHA:1192 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Red-brown urine, Renal tubular epithelial necrosis, Tubulointerstitial nephritis, Stage 5 chronic... |
ORPHA:228302 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Glomerulonephritis, Stage 5 chronic kidney disease, Chronic tubulointerstitial ... |
OMIM:614376 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Glomerulopathy, Nephroblastoma, Nephrotic syndrome, Renal ins... |
ORPHA:347 |
| Nephrotic Syndrome, Type 1 |
|
Glomerular sclerosis, Renal tubular atrophy, Renal insufficiency, Diffuse mesangial sclerosis, Co... |
OMIM:256300 |
| Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Renal artery stenosis, Nephropathy, Proteinuria |
OMIM:209010 |
| Myh9-Related Disease |
|
Renal insufficiency, Nephritis, Nephropathy, Proteinuria |
ORPHA:182050 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Abnormal renal physiology, Renal insufficiency, Hematuria, Nephropathy, Glomerular basement membr... |
OMIM:308940 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Vesicoureteral reflux, Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Protein... |
ORPHA:261222 |
| Galloway-Mowat Syndrome 6 |
|
Nephrotic syndrome, Proteinuria |
OMIM:618347 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Disease |
|
Hematuria, Distal renal tubular acidosis, Unilateral renal dysplasia, Renal dysplasia, Proximal r... |
OMIM:146255 |
| Papillorenal Syndrome |
|
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... |
OMIM:120330 |
| Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acid... |
ORPHA:3337 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Nephropathy, Proteinuria |
ORPHA:1765 |
| Alport Syndrome 1, X-Linked |
|
Thickened glomerular basement membrane, Microscopic hematuria, Glomerular basement membrane lamel... |
OMIM:301050 |
| Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria |
OMIM:610965 |
| Alport Syndrome |
|
Hematuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Proteinuria, Thickene... |
ORPHA:63 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Exercise-induced myoglobinuria |
OMIM:300653 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Acute kidney injury, Dark urine, Chronic kidney disease, Recurrent myoglobinuria, Exercise-induce... |
ORPHA:368 |
| Becker Muscular Dystrophy |
|
Abnormal urinary color, Myoglobinuria |
ORPHA:98895 |
| Galloway-Mowat Syndrome 7 |
|
Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic ki... |
OMIM:618348 |
| Nephrotic Syndrome, Type 14 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse m... |
OMIM:617575 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Abnormality of the kidney, Proteinuria |
ORPHA:369 |
| Paroxysmal Cold Hemoglobinuria |
|
Abnormal urinary color, Hemoglobinuria |
ORPHA:90035 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys, Proteinuria |
OMIM:613845 |
| Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptides, Prote... |
OMIM:256550 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Low-molecular-weight proteinuria, Proximal tubulopathy, Hypercalciuria, ... |
OMIM:300554 |
| Ebola Hemorrhagic Fever |
|
Renal insufficiency, Proteinuria |
ORPHA:319218 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Elevated urinary norepinephrine, Proteinuria |
OMIM:171420 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, ... |
OMIM:220110 |
| Wilson Disease |
|
Hyperphosphaturia, Aminoaciduria, Glycosuria, Hypercalciuria, Renal tubular dysfunction, Nephroli... |
OMIM:277900 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, ... |
ORPHA:436271 |
| Oligomeganephronia |
|
Decreased numbers of nephrons, Proteinuria, Unilateral renal agenesis, Abnormality of medullary p... |
ORPHA:2260 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria |
ORPHA:2774 |
| Pauci-Immune Glomerulonephritis |
|
Acute kidney injury, Nephrotic range proteinuria, Glomerular sclerosis, Decreased glomerular filt... |
ORPHA:93126 |
| Biliary Malformation With Renal Tubular Insufficiency |
|
Generalized aminoaciduria, Aminoaciduria, Glycosuria, Renal tubular dysfunction, Proteinuria |
OMIM:210550 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Proteinuria |
OMIM:603585 |
| Renal Agenesis |
|
Renal insufficiency, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Unilateral rena... |
ORPHA:411709 |
| Renal Hypodysplasia/Aplasia 1 |
|
Renal dysplasia, Renal agenesis, Proteinuria |
OMIM:191830 |
| Cystinosis |
|
Aminoaciduria, Nephropathy, Renal insufficiency, Renal tubular dysfunction, Proteinuria |
ORPHA:213 |
| Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Low-molecular-weight proteinuria, Proximal tubulopathy, Abnormal urine p... |
ORPHA:411634 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Glomerular sclerosis, Elev... |
ORPHA:276621 |
| Wild Type Attr Amyloidosis |
|
Renal insufficiency, Proteinuria, Nephropathy, Nephrotic syndrome |
ORPHA:330001 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
| Proximal Renal Tubular Acidosis |
|
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ... |
ORPHA:47159 |
| Distal Renal Tubular Acidosis |
|
Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal potassium wasting, Pro... |
ORPHA:18 |
| Cryoglobulinemic Vasculitis |
|
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy |
ORPHA:91138 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria |
ORPHA:119 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Myoglobinuria |
OMIM:231530 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hematuria, Cystathioninuria, Nephropathy, Hemolytic-uremic syndrome, Methylmalonic aciduria, Rena... |
OMIM:277400 |
| Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Proteinuria |
ORPHA:69126 |
| Donnai-Barrow Syndrome |
|
Proteinuria |
ORPHA:2143 |
| Pediatric Systemic Lupus Erythematosus |
|
Hematuria, Abnormality of the urinary system, Dark urine, Nephrotic syndrome, Renal insufficiency... |
ORPHA:93552 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Nephrotic syndrome, Heavy prote... |
ORPHA:255249 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Microscopic hematuria, Abnormal renal physiology, Proteinuria |
OMIM:274150 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Myoglobinuria |
ORPHA:713 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal hypoplasia, Renal insufficiency, Proteinuria |
ORPHA:1307 |
| Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:609049 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Proteinuria, Renal Fanconi syndrome |
ORPHA:263455 |
| Free Sialic Acid Storage Disease |
|
Proteinuria, Nephrotic syndrome |
ORPHA:834 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Acute kidney injury, Myoglobinuria |
ORPHA:57 |
| Ddost-Cdg |
|
Nephrotic range proteinuria |
ORPHA:300536 |
| Schimke Immuno-Osseous Dysplasia |
|
Focal segmental glomerulosclerosis, Nephrotic range proteinuria, Nephropathy, Microscopic hematur... |
ORPHA:1830 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria |
OMIM:145600 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Decreased glomerular filtration rate, Tubulointerstitial nephritis, Chronic kidney disease, Nephr... |
ORPHA:488627 |
| Hypocomplementemic Urticarial Vasculitis |
|
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy |
ORPHA:36412 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Glomerular sclerosis, Elev... |
ORPHA:29072 |
| Lymphedema-Distichiasis Syndrome |
|
Recurrent urinary tract infections, Glomerulopathy, Tubulointerstitial nephritis, Renal duplicati... |
ORPHA:33001 |
| Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:242900 |
| Fabry Disease |
|
Lipiduria, Renal insufficiency, Urinary mulberry cells, Proteinuria |
OMIM:301500 |
| Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Proteinuria |
OMIM:618886 |
| Renal Cysts And Diabetes Syndrome |
|
Abnormal renal morphology, Decreased numbers of nephrons, Renal hypoplasia, Proteinuria, Unilater... |
OMIM:137920 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Renal insufficiency, Microscopic hematuria, Proteinuria, Glomerulopathy |
ORPHA:86818 |
| Aapoaiv Amyloidosis |
|
Renal amyloidosis, Glomerular sclerosis, Chronic kidney disease, Abnormal renal medulla morpholog... |
ORPHA:439232 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Macroscopic hematuria, Proteinuria, Enlarged kidney |
ORPHA:251004 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulopathy |
ORPHA:2715 |
| Yellow Fever |
|
Renal insufficiency, Proteinuria, Nephropathy, Oliguria |
ORPHA:99829 |
| Ohdo Syndrome |
|
Proteinuria |
OMIM:249620 |
| Hemorrhagic Fever-Renal Syndrome |
|
Abnormal renal tubule morphology, Oliguria, Abnormal tubulointerstitial morphology, Renal insuffi... |
ORPHA:340 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Focal segmental glomerulosclerosis, Enlarged kidney, Renal tubular atrophy, Nephrotic syndrome, N... |
OMIM:617303 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hematuria, Proteinuria |
OMIM:192315 |
| Pheochromocytoma |
|
Elevated urinary norepinephrine, Renal artery stenosis, Proteinuria |
OMIM:171300 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Myoglobinuria |
OMIM:255125 |
| Diffuse Alveolar Hemorrhage |
|
Hematuria, Proteinuria |
ORPHA:90060 |
| Galloway-Mowat Syndrome |
|
Proteinuria, Nephropathy, Nephrotic syndrome |
ORPHA:2065 |
| Infantile Nephropathic Cystinosis |
|
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria, Abnormal tubuloin... |
ORPHA:411629 |
| Legionnaires Disease |
|
Renal insufficiency, Hematuria, Proteinuria |
ORPHA:549 |
| Malakoplakia |
|
Dysuria, Hematuria, Urinary hesitancy, Urinary bladder inflammation, Urinary urgency, Proteinuria |
ORPHA:556 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Hematuria, Glomerulopathy, Tubulointerstitial nephritis, Renal insufficiency, Proteinuria |
ORPHA:183 |
| Renal Nutcracker Syndrome |
|
Microscopic hematuria, Hematuria, Renal artery stenosis, Proteinuria |
ORPHA:71273 |
| Majeed Syndrome |
|
Microscopic hematuria, Proteinuria, Glomerulopathy |
ORPHA:77297 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Red-brown urine, Myoglobinuria |
ORPHA:228305 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Tubulointerstitial ne... |
ORPHA:157 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Tubulointerstitial ne... |
ORPHA:228308 |
| Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Enlarged kidney, Decreased glomerular filtration rate, Nephro... |
OMIM:232200 |
| Galloway-Mowat Syndrome 3 |
|
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mesangial scler... |
OMIM:617729 |
| Nail-Patella Syndrome |
|
Hematuria, Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Proteinuria |
OMIM:161200 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Enlarged kidney, Heparan sulfate excretion in urine, Nephrotic syndrome, Urinary glycosaminoglyca... |
ORPHA:505248 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Hematuria, Nephropathy, Chronic kidney disease, Stage 5 chronic kidney disease, Proteinuria |
ORPHA:1018 |
| Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Enlarged kidney, Decreased glomerular filtration rate, Nephro... |
OMIM:232220 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Renal insufficiency, Mild proteinuria, Hypospadias |
OMIM:619147 |
| Nail-Patella Syndrome |
|
Nephritis, Hematuria, Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Nep... |
ORPHA:2614 |
| Glycogen Storage Disease Ic |
|
Hematuria, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insuff... |
OMIM:232240 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Proximal tubulopathy, Renal cyst, Proteinuria, Nephrotic syndrome |
OMIM:212065 |
| Donnai-Barrow Syndrome |
|
Non-acidotic proximal tubulopathy, Low-molecular-weight proteinuria |
OMIM:222448 |
| Mental Retardation, X-Linked, Syndromic, Martin-Probst Type |
|
Renal insufficiency, Micropenis, Proteinuria, Chordee |
OMIM:300519 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Glomerular sclerosis, Nephropathy, Proteinuria |
ORPHA:247691 |
| Spondyloenchondrodysplasia |
|
Hematuria, Chronic kidney disease, Proteinuria |
ORPHA:1855 |
| Hellp Syndrome |
|
Hemoglobinuria, Acute kidney injury, Proteinuria |
ORPHA:244242 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Hemoglobinuria |
OMIM:300908 |
| Cystinosis, Nephropathic |
|
Generalized aminoaciduria, Polyuria, Glycosuria, Microscopic hematuria, Stage 5 chronic kidney di... |
OMIM:219800 |
| Gaucher Disease Type 1 |
|
Hematuria, Proteinuria |
ORPHA:77259 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hemoglobinuria |
OMIM:194380 |
| Galloway-Mowat Syndrome 1 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal insufficiency, Diffuse mesangial sc... |
OMIM:251300 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Chronic kidney disease, Renal cyst, Renal insufficiency, Nephritis, Proteinuria |
OMIM:208500 |
| Lysinuric Protein Intolerance |
|
Abnormal renal tubule morphology, Renal amyloidosis, Membranous nephropathy, Decreased glomerular... |
ORPHA:470 |
| Agel Amyloidosis |
|
Stage 5 chronic kidney disease, Proteinuria |
ORPHA:85448 |
| Lymphatic Filariasis |
|
Urethral obstruction, Hematuria, Glomerulonephritis, Nephrotic syndrome, Abnormality of the kidne... |
ORPHA:2035 |
| Cockayne Syndrome Type 1 |
|
Renal insufficiency, Proteinuria |
ORPHA:90321 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Myoglobinuria |
ORPHA:71212 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Myoglobinuria |
OMIM:609015 |
| Melas |
|
Proximal tubulopathy, Proteinuria, Nephropathy, Focal segmental glomerulosclerosis |
ORPHA:550 |
| Gitelman Syndrome |
|
Focal segmental glomerulosclerosis, Nocturia, Renal potassium wasting, Enuresis, Urinary incontin... |
ORPHA:358 |
| Cornelia De Lange Syndrome 1 |
|
Abnormal renal morphology, Renal hypoplasia, Vesicoureteral reflux, Renal cyst, Ectopic kidney, R... |
OMIM:122470 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Myoglobinuria |
ORPHA:206549 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Myoglobinuria |
OMIM:616878 |
| Neuroleptic Malignant Syndrome |
|
Urinary incontinence, Proteinuria, Acute kidney injury, Myoglobinuria |
ORPHA:94093 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Abnormal renal physiology, Hemoglobinuria |
ORPHA:447 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Myoglobinuria |
ORPHA:370 |
| Fabry Disease |
|
Abnormal renal tubule morphology, Hematuria, Nephropathy, Glomerulopathy, Nephrotic syndrome, Ren... |
ORPHA:324 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal renal tubule morphology, Multiple renal cysts, Hematuria, Oligosacchariduria, Aminoacidu... |
ORPHA:534 |
| Immunoglobulin A Vasculitis |
|
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy |
ORPHA:761 |
| Acquired Generalized Lipodystrophy |
|
Proteinuria |
ORPHA:79086 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Myoglobinuria |
ORPHA:264580 |
| Cocaine Intoxication |
|
Hematuria, Acute kidney injury, Glomerulonephritis, Tubulointerstitial nephritis, Proteinuria |
ORPHA:90068 |
| Insulin-Resistance Syndrome Type B |
|
Proteinuria, Nephritis, Glycosuria |
ORPHA:2298 |
| Malignant Hyperthermia Of Anesthesia |
|
Acute kidney injury, Myoglobinuria |
ORPHA:423 |
| Gaucher Disease Type 3 |
|
Hematuria, Proteinuria |
ORPHA:77261 |
| Orofaciodigital Syndrome I |
|
Polycystic kidney dysplasia, Proteinuria |
OMIM:311200 |
| Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital |
|
Focal segmental glomerulosclerosis, Renal tubular atrophy, Decreased glomerular filtration rate, ... |
OMIM:614748 |
| Lowe Oculocerebrorenal Syndrome |
|
Hyperphosphaturia, Aminoaciduria, Bicarbonaturia, Proximal renal tubular acidosis, Renal Fanconi ... |
OMIM:309000 |
| Holoprosencephaly |
|
Abnormality of the urinary system, Proteinuria, Hypoplasia of penis |
ORPHA:2162 |
| Granulomatosis With Polyangiitis |
|
Hematuria, Glomerulopathy, Hydronephrosis, Ureteral stenosis, Renal insufficiency, Proteinuria |
ORPHA:900 |
| Familial Mediterranean Fever |
|
Nephrocalcinosis, Proteinuria, Nephropathy, Nephrotic syndrome |
ORPHA:342 |
| Goodpasture Syndrome |
|
Erythrocyte cylindruria, Cylindruria, Glomerulonephritis, Macroscopic hematuria, Renal insufficie... |
OMIM:233450 |
| Cockayne Syndrome |
|
Abnormal renal physiology, Neurogenic bladder, Renal hypoplasia, Unilateral renal agenesis, Urina... |
ORPHA:191 |
| Aymé-Gripp Syndrome |
|
Proteinuria |
ORPHA:1272 |
| Relapsing Polychondritis |
|
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy |
ORPHA:728 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Tubulointerstitial fibrosis, Enlarged kidney, Stage 5 chronic kidney disease, Nephrocalcinosis, N... |
ORPHA:79259 |
| Pearson Syndrome |
|
Lacticaciduria, Glycosuria, Renal cyst, Renal insufficiency, Proteinuria |
ORPHA:699 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal lymphocytic tubulitis, Mild proteinuria, Renal tubular epithelial necrosis, Renal neutrophi... |
ORPHA:91500 |
| Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Hydronephrosis, Proteinuria, Multicystic kidney dysplasia |
ORPHA:2750 |
| Cockayne Syndrome A |
|
Renal insufficiency, Micropenis, Proteinuria |
OMIM:216400 |
| Cockayne Syndrome B |
|
Renal insufficiency, Micropenis, Proteinuria |
OMIM:133540 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Hemoglobinuria, Acute kidney injury |
ORPHA:90038 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Acute kidney injury, Anuria, Nephrotic range proteinuria, Oliguria, Decreased urine output |
ORPHA:544482 |
| Williams Syndrome |
|
Multiple renal cysts, Renal hypoplasia, Renovascular hypertension, Recurrent urinary tract infect... |
ORPHA:904 |
| Gaucher Disease |
|
Hematuria, Proteinuria |
ORPHA:355 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Proteinuria, Focal segmental glomerulosclerosis |
OMIM:619127 |
| Kawasaki Disease |
|
Proteinuria, Sterile pyuria |
ORPHA:2331 |
| Pmm2-Cdg |
|
Abnormal renal tubule morphology, Nephrotic syndrome, Multiple renal cysts, Proteinuria |
ORPHA:79318 |
