| Proteinuria, Chronic Benign |
|
Proteinuria, Albuminuria, Renal insufficiency |
OMIM:618884 |
| Alport Syndrome 3B, Autosomal Recessive |
|
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... |
OMIM:620536 |
| Lipoprotein Glomerulopathy |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity |
OMIM:611771 |
| Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria, Moderate albuminuria, Renal insufficiency, Recurrent urinary tract infections |
OMIM:618882 |
| Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
| Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria |
OMIM:617783 |
| Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:301028 |
| Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... |
OMIM:618178 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... |
OMIM:601894 |
| Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:616032 |
| Hematuria, Benign Familial, 2 |
|
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria |
OMIM:620320 |
| Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Fasting hypoglycemia, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:614199 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... |
OMIM:137950 |
| Nephrotic Syndrome, Type 17 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:618176 |
| Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... |
OMIM:616002 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... |
OMIM:616818 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
| Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
| Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... |
OMIM:619201 |
| Nail-Patella-Like Renal Disease |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria |
ORPHA:2613 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria |
OMIM:613944 |
| Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... |
OMIM:603965 |
| Renal Failure, Progressive, With Hypertension |
|
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria |
OMIM:161900 |
| Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... |
OMIM:613237 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency |
OMIM:607832 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... |
OMIM:308990 |
| Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... |
OMIM:617609 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Neonatal insulin-dependent diabetes mellitus, Ketonuria, Glycosuria, Hyperg... |
ORPHA:99885 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Hydronephrosis, Moderate albuminuria, Type I diabetes mellitus, Osteopenia |
OMIM:619269 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Focal Segmental Glomerulosclerosis 6 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... |
OMIM:614131 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Osteopenia, Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medulla... |
OMIM:611555 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Renal steatosis, Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| Nephrotic Syndrome, Type 7 |
|
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... |
OMIM:615008 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria |
OMIM:161950 |
| Nephrotic Syndrome, Type 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:615573 |
| Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... |
ORPHA:54370 |
| Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Generalized aminoaciduria, Osteopenia, Proximal tubulopathy, Rickets, Gl... |
OMIM:613388 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... |
OMIM:310468 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Generalized aminoaciduria, Hyperinsulinemia, Renal tubular dysfunction |
OMIM:606528 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Rickets, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperp... |
OMIM:615605 |
| Galactosemia I |
|
Aminoaciduria, Galactosuria, Albuminuria, Increased level of galactitol in urine |
OMIM:230400 |
| Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:600995 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Bone cyst |
ORPHA:2668 |
| Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia, Ketonuria |
OMIM:616095 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... |
OMIM:614817 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Moderate albuminuria, Osteopenia, Diabetes mellitus |
OMIM:614231 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Diabetes me... |
OMIM:608709 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Alaninuria, Hypoglycemia |
OMIM:615158 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Reactive hypogl... |
ORPHA:35878 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:614650 |
| Fibronectin Glomerulopathy |
|
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Nephr... |
ORPHA:84090 |
| Myoglobinuria, Recurrent |
|
Exercise-induced myoglobinuria, Recurrent myoglobinuria |
OMIM:550500 |
| Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Rickets, Glycosuria, Osteomalacia, Low-molecular-weight proteinuria, Renal insuffi... |
OMIM:134600 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:240900 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Podocyte foot process effacement |
OMIM:617006 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Nephrocalcinosis, Rickets, Glycosuria, Hypoglycemia, Hyperphosphaturia, Proteinuri... |
OMIM:616026 |
| Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Hematuria, Acute kidney injury |
ORPHA:2134 |
| Acquired Partial Lipodystrophy |
|
Proteinuria, Glomerulopathy, Microscopic hematuria, Insulin resistance |
ORPHA:79087 |
| Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:614196 |
| Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... |
OMIM:610725 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:613913 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Type I diabetes mellitus, Membranoproliferative glomerulonephritis, Osteopo... |
OMIM:619525 |
| Dent Disease 1 |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... |
OMIM:300009 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... |
OMIM:613092 |
| Dent Disease |
|
Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossification, Osteomalacia, H... |
ORPHA:1652 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, ... |
ORPHA:567544 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology |
ORPHA:839 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Bilateral renal atrophy, Carpal osteolysis, Metacarpal osteolysis, Metatarsal osteoly... |
OMIM:166300 |
| Amyloidosis, Hereditary Systemic 2 |
|
Nephropathy, Renal amyloidosis, Proteinuria, Hematuria, Nephrotic syndrome |
OMIM:105200 |
| Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... |
OMIM:618913 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... |
ORPHA:976 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Hypoglycemia, Proteinuria, Abnormality of the kidney, Osteoporosis |
ORPHA:369 |
| Denys-Drash Syndrome |
|
Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma |
ORPHA:220 |
| Nephrotic Syndrome, Type 22 |
|
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... |
OMIM:619155 |
| Orthostatic Hypotension 2 |
|
Decreased glomerular filtration rate, Hypoglycemia |
OMIM:618182 |
| Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Proteinuria, Nephrotic syndrome, Mucopolysacchariduria, Generalized bone demineralization |
OMIM:215250 |
| Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hypoglycemia |
ORPHA:664 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Delayed ... |
OMIM:300554 |
| Nephronophthisis 13 |
|
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... |
OMIM:614377 |
| Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Myoglobinuria |
OMIM:160010 |
| Galloway-Mowat Syndrome 8 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, Proteinuria, Nephr... |
OMIM:618349 |
| Hypouricemia, Renal, 1 |
|
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... |
OMIM:220150 |
| Propionic Acidemia |
|
Organic aciduria, Hypoglycemia |
ORPHA:35 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Organic aciduria, Hypoglycemia |
ORPHA:6 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, St... |
ORPHA:567546 |
| C3 Glomerulopathy |
|
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ... |
ORPHA:329918 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Hematuria, Renal tubular ep... |
ORPHA:95455 |
| Glycogen Storage Disease V |
|
Failure to elevate lactate upon ischemic exercise test, Myoglobinuria, Dark urine |
OMIM:232600 |
| Dent Disease 2 |
|
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... |
OMIM:300555 |
| Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc... |
OMIM:603278 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease, Rickets |
OMIM:219900 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Nephrotic syndrome |
OMIM:614652 |
| Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Proteinuria, Renal artery stenosis, Diabetes mellitus |
OMIM:209010 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Proteinuria, Renal insufficiency |
OMIM:245900 |
| Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria, Microscopic hematuria |
OMIM:261100 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Hyperinsulinemia, Hypoketotic hypoglycemia, Hypophosphatemic rickets, Proteinuria, Re... |
ORPHA:263455 |
| Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Hypoglyce... |
ORPHA:3337 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Nephrotic syndrome, Type I diabetes mellitus, Proteinuria |
ORPHA:1192 |
| Nephronophthisis 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... |
OMIM:604387 |
| Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... |
ORPHA:93101 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobuli... |
OMIM:227810 |
| Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... |
ORPHA:94088 |
| Al Amyloidosis |
|
Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Abnormality of the kidney,... |
ORPHA:85443 |
| Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Proteinuria, Hematuria, Abnormal renal physiology |
OMIM:123550 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:136680 |
| Nephrotic Syndrome, Type 8 |
|
Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidney disease, Protei... |
OMIM:615244 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... |
OMIM:613496 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic seizures, Myoglobinuria, Hypoketotic hypoglycemia, Dicarboxylic aciduria |
OMIM:231530 |
| Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Long penis, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperg... |
OMIM:262190 |
| Alport Syndrome 2, Autosomal Recessive |
|
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... |
OMIM:203780 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Epiphyseal stippling, Hydronephrosis, Albuminuria, Hypospadias, Renal cortical mic... |
OMIM:214100 |
| Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch... |
OMIM:617731 |
| Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency |
OMIM:261670 |
| Systemic Sclerosis |
|
Chronic kidney disease, Acute kidney injury, Renal insufficiency, Proteinuria, Osteolytic defects... |
ORPHA:90291 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Carpal osteolysis, Metacarpal osteolysis, Proteinuria, Osteolysis |
ORPHA:2774 |
| Reni Syndrome |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypoglycemia, Stage 5 c... |
OMIM:617575 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o... |
ORPHA:449395 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:301006 |
| Cednik Syndrome |
|
Proteinuria, Nephrotic syndrome |
ORPHA:66631 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... |
ORPHA:656 |
| Thrombotic Thrombocytopenic Purpura |
|
Hematuria, Proteinuria, Acute kidney injury, Renal insufficiency |
ORPHA:54057 |
| Anti-Glomerular Basement Membrane Disease |
|
Proteinuria, Hematuria, Glomerulopathy, Renal insufficiency |
ORPHA:375 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria |
OMIM:620010 |
| Cystinosis |
|
Nephropathy, Aminoaciduria, Type I diabetes mellitus, Rickets, Renal insufficiency, Renal tubular... |
ORPHA:213 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Proteinuria, Type I diabetes mellitus, Membranoproliferative glomerulonephritis |
OMIM:619858 |
| Lcat Deficiency |
|
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... |
ORPHA:650 |
| Aa Amyloidosis |
|
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... |
ORPHA:85445 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hemolytic-ur... |
OMIM:612925 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Proteinuria, Renal amyloidosis, Renal insufficiency |
OMIM:134610 |
| Preeclampsia |
|
Chronic kidney disease, Acute kidney injury, Type I diabetes mellitus, Renal insufficiency, Prote... |
ORPHA:275555 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome |
OMIM:612924 |
| Glycogen Storage Disease Ixd |
|
Exercise-induced myoglobinuria, Hypoglycemia |
OMIM:300559 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Renal salt wasting, Hypospadias, Hypoglycemia |
OMIM:201910 |
| Glycogen Storage Disease Xi |
|
Myoglobinuria, Renal insufficiency |
OMIM:612933 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome |
OMIM:612926 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... |
OMIM:104200 |
| Renal Hypoplasia, Bilateral |
|
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... |
ORPHA:97362 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... |
ORPHA:567548 |
| Free Sialic Acid Storage Disease |
|
Proteinuria, Nephrotic syndrome, Reduced bone mineral density |
ORPHA:834 |
| Nephrotic Syndrome, Type 11 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... |
OMIM:616730 |
| Alagille Syndrome 2 |
|
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria |
OMIM:610205 |
| Neuraminidase Deficiency |
|
Proteinuria, Epiphyseal stippling, Increased urinary O-linked sialopeptides, Urinary excretion of... |
OMIM:256550 |
| Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Hypoglycemia, Decreased glomerular filtration rate, Nephrolit... |
OMIM:232200 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Proteinuria |
OMIM:613404 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Rickets, Osteomalacia, Low-molecular-weigh... |
ORPHA:18 |
| Galloway-Mowat Syndrome 4 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... |
OMIM:617730 |
| Papa Syndrome |
|
Proteinuria, Type I diabetes mellitus |
ORPHA:69126 |
| Renal Dysplasia |
|
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Myoglobinuria, Renal tubula... |
ORPHA:228302 |
| Myh9-Related Disease |
|
Nephropathy, Nephritis, Renal insufficiency, Proteinuria |
ORPHA:182050 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:2364 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Hyperechogenic kidneys, Proteinuria, Polyuria, Renal salt wasting, Diabet... |
OMIM:613845 |
| Galloway-Mowat Syndrome 10 |
|
Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ... |
OMIM:619609 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Myoglobinuria |
OMIM:268200 |
| Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Nephritis, Insulin resistance, Glycosuria, Insulin-resistant diabetes... |
ORPHA:2298 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Proteinuria, Abnormality of the ki... |
ORPHA:261222 |
| Galloway-Mowat Syndrome 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria |
OMIM:618347 |
| Nephrotic Syndrome, Type 1 |
|
Congenital nephrotic syndrome, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis, Glo... |
OMIM:256300 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa... |
ORPHA:347 |
| Ddost-Cdg |
|
Nephrotic range proteinuria, Osteopenia |
ORPHA:300536 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St... |
OMIM:308940 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Proteinuria, Sagittal craniosynostosis, Tubulointerstitial nephritis |
OMIM:616901 |
| Alport Syndrome |
|
Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m... |
ORPHA:63 |
| Renal Cysts And Diabetes Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Maturity-onset diabetes of the young, St... |
OMIM:137920 |
| Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi... |
ORPHA:47159 |
| Hypomagnesemia 3, Renal |
|
Chronic kidney disease, Hematuria, Macroscopic hematuria, Rickets, Sterile pyuria, Renal magnesiu... |
OMIM:248250 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Unilateral rena... |
OMIM:146255 |
| Galloway-Mowat Syndrome 7 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... |
OMIM:618348 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Elevated urinary 3-hydr... |
OMIM:615751 |
| Alport Syndrome 1, X-Linked |
|
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag... |
OMIM:301050 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Myoglobinuria, Recurrent myoglobinuria, Hypoglycemia |
OMIM:620300 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Nephropathy, Proteinuria, Hematuria |
ORPHA:1765 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Fasting hyperinsulinemia, Dicarboxylic aciduria, Hypoketotic hypoglycemia, Myoglobinuria, Hyperin... |
ORPHA:71212 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... |
ORPHA:436271 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias |
OMIM:619428 |
| Acquired Generalized Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Proteinuria, Unicamera... |
ORPHA:79086 |
| Aapoaiv Amyloidosis |
|
Chronic kidney disease, Renal amyloidosis, Proteinuria, Glomerular sclerosis, Abnormal renal medu... |
ORPHA:439232 |
| Papillorenal Syndrome |
|
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... |
OMIM:120330 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Proteinuria |
OMIM:603585 |
| Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Glycosuria,... |
ORPHA:411634 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Chronic tubulo... |
OMIM:614376 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
| Oligomeganephronia |
|
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... |
ORPHA:2260 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myoglobinuria, Red-brown urine, Hypoketotic hypoglycemia |
ORPHA:228305 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... |
OMIM:220110 |
| Becker Muscular Dystrophy |
|
Myoglobinuria, Abnormal urinary color |
ORPHA:98895 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Recurrent hypoglycemia, Renal tubular acidosis, Myoglobinuria, Ketotic hypoglycemia, Fasting hypo... |
ORPHA:79240 |
| Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Hypoglycemia, Decreased glomerular filtration rate, Nephrolit... |
OMIM:232220 |
| Lymphedema-Distichiasis Syndrome |
|
Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst... |
ORPHA:33001 |
| Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Rickets, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tu... |
ORPHA:411629 |
| Pauci-Immune Glomerulonephritis |
|
Acute kidney injury, Decreased glomerular filtration rate, Renal insufficiency, Proteinuria, Glom... |
ORPHA:93126 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephropathy, Abnormal urinary electrolyte concentration, Decreased glomerular filtration rate, Re... |
ORPHA:85450 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... |
ORPHA:276621 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Elevated urinary norepinephrine level |
OMIM:171420 |
| Heme Oxygenase 1 Deficiency |
|
Hematuria, Nephritis, Proteinuria |
OMIM:614034 |
| Majeed Syndrome |
|
Proteinuria, Increased bone mineral density, Glomerulopathy, Microscopic hematuria |
ORPHA:77297 |
| Paroxysmal Cold Hemoglobinuria |
|
Hemoglobinuria, Abnormal urinary color |
ORPHA:90035 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Mild proteinuria |
OMIM:301108 |
| Renal Hypodysplasia/Aplasia 1 |
|
Proteinuria, Bilateral renal agenesis, Renal dysplasia |
OMIM:191830 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
| Renal Agenesis |
|
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... |
ORPHA:411709 |
| Donnai-Barrow Syndrome |
|
Proteinuria |
ORPHA:2143 |
| Cystinosis, Nephropathic |
|
Aminoaciduria, Generalized aminoaciduria, Rickets, Glycosuria, Low-molecular-weight proteinuria, ... |
OMIM:219800 |
| Cryoglobulinemic Vasculitis |
|
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency |
ORPHA:91138 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Focal segmental glomerulosclerosis, Proteinuria, Glomerular sclerosis, Recurrent myoglobinuria, N... |
OMIM:607426 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Hypoketotic hypoglycemia, Stage 5 chronic kidney disease, Myoglobinuria, Renal t... |
ORPHA:157 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Proteinuria, Membranoproliferative glomerulonephritis, Macroscopic hematuria, Craniosynostosis, E... |
ORPHA:251004 |
| Pediatric Systemic Lupus Erythematosus |
|
Nephritis, Abnormality of the urinary system, Dark urine, Renal insufficiency, Hematuria, Protein... |
ORPHA:93552 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
| Wild Type Attr Amyloidosis |
|
Nephropathy, Nephrotic syndrome, Renal insufficiency, Proteinuria |
ORPHA:330001 |
| Schimke Immunoosseous Dysplasia |
|
Focal segmental glomerulosclerosis, Osteopenia, Stage 5 chronic kidney disease, Renal insufficien... |
OMIM:242900 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Red-brown urine, Dicarboxylic aciduria, Hypoketotic hypoglycemia, Renal insufficiency, Myoglobinu... |
ORPHA:228308 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria |
ORPHA:119 |
| Aicardi-Goutieres Syndrome 9 |
|
Thickened glomerular basement membrane, Recurrent urinary tract infections, Hyperechogenic kidney... |
OMIM:619487 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Tubulointerstitial nep... |
ORPHA:488627 |
| Schimke Immuno-Osseous Dysplasia |
|
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 chron... |
ORPHA:1830 |
| Hypocomplementemic Urticarial Vasculitis |
|
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency |
ORPHA:36412 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... |
ORPHA:29072 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypoglycemia, Renal tubular acidosis, Myoglobinuria, Fasting hypoglycemia, Osteoporosis |
ORPHA:264580 |
| Diffuse Alveolar Hemorrhage |
|
Hematuria, Proteinuria |
ORPHA:90060 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Microscopic hematuria, Hemolytic-uremic syndrome, Abnormal renal physiology |
OMIM:274150 |
| Fabry Disease |
|
Proteinuria, Urinary mulberry cells, Lipiduria, Renal insufficiency |
OMIM:301500 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:713 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Proteinuria, Renal hypoplasia, Renal insufficiency |
ORPHA:1307 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Glomerulopathy... |
OMIM:254900 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Myoglobinuria, Hypoketotic hypoglycemia |
OMIM:609015 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria |
OMIM:145600 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Acute kidney injury, Myoglobinuria |
ORPHA:57 |
| Glycogen Storage Disease Ic |
|
Focal segmental glomerulosclerosis, Hypoglycemia, Decreased glomerular filtration rate, Renal ins... |
OMIM:232240 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Proteinuria, Glomerulopathy, Renal insufficiency |
ORPHA:2715 |
| Pseudo-Torch Syndrome 3 |
|
Proteinuria, Acute kidney injury |
OMIM:618886 |
| Nail-Patella Syndrome |
|
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic... |
ORPHA:2614 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Nephropathy, Homocystinuria, Acute kidney injury, Methylmalonic aciduria, Cystathioninuria, Renal... |
OMIM:277400 |
| Gitelman Syndrome |
|
Focal segmental glomerulosclerosis, Insulin resistance, Type I diabetes mellitus, Enuresis, Gluco... |
ORPHA:358 |
| Ohdo Syndrome |
|
Proteinuria |
OMIM:249620 |
| Osteootohepatoenteric Syndrome |
|
Grade II vesicoureteral reflux, Proteinuria, Reduced bone mineral density |
OMIM:619377 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Moderate proteinuria, Proteinuria, Hyperechogenic kidneys, Hemolytic-uremic syndrome |
OMIM:301110 |
| Galloway-Mowat Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:2065 |
| Malakoplakia |
|
Urinary bladder inflammation, Urinary hesitancy, Hematuria, Proteinuria, Dysuria, Urinary urgency |
ORPHA:556 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Focal segmental glomerulosclerosis, Nephritis, Proteinuria, Nephrotic syndrome, Renal tubular atr... |
OMIM:617303 |
| Legionnaires Disease |
|
Hematuria, Proteinuria, Renal insufficiency |
ORPHA:549 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Nephrocalcinosis, Hypoglycemia, Stage 5 chronic kidney disease, Nephrolithiasis, Prot... |
ORPHA:79259 |
| Simple Cryoglobulinemia |
|
Nephritis, Renal insufficiency, Mesangial hypercellularity, Proteinuria, Abnormality of the kidne... |
ORPHA:91139 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hematuria, Proteinuria |
OMIM:192315 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Tubulointerstitial nephritis |
ORPHA:183 |
| Pheochromocytoma |
|
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level |
OMIM:171300 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Proximal tubulopathy, Proteinuria, Renal cyst, Nephrotic syndrome |
OMIM:212065 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy |
ORPHA:86818 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Myoglobinuria, Ketonuria, Hypoglycemia |
OMIM:616878 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Myoglobinuria, Ketonuria, 3-Methylglutaconic aciduria |
OMIM:251900 |
| Lysinuric Protein Intolerance |
|
Renal fibrosis, Osteopenia, Hyperlysinuria, Renal amyloidosis, Oroticaciduria, Decreased glomerul... |
ORPHA:470 |
| Renal Nutcracker Syndrome |
|
Hematuria, Proteinuria, Renal artery stenosis, Microscopic hematuria |
ORPHA:71273 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria |
OMIM:620138 |
| Wilson Disease |
|
Aminoaciduria, Glycosuria, Osteomalacia, Hyperphosphaturia, Renal tubular dysfunction, Nephrolith... |
OMIM:277900 |
| Melas |
|
Nephropathy, Focal segmental glomerulosclerosis, Type I diabetes mellitus, Proximal tubulopathy, ... |
ORPHA:550 |
| Arima Syndrome |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R... |
OMIM:243910 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Nephropathy, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Proteinuria |
ORPHA:1018 |
| Nail-Patella Syndrome |
|
Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome |
OMIM:161200 |
| Galloway-Mowat Syndrome 3 |
|
Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomerular sclerosis, N... |
OMIM:617729 |
| Donnai-Barrow Syndrome |
|
Proteinuria, Non-acidotic proximal tubulopathy |
OMIM:222448 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Chronic kidney disease, Nephritis, Renal insufficiency, Early ossification of capital femoral epi... |
OMIM:208500 |
| Gaucher Disease Type 3 |
|
Hematuria, Proteinuria, Increased bone mineral density, Osteolysis |
ORPHA:77261 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Heavy proteinuria, Prote... |
ORPHA:505248 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Nephropathy, Proteinuria, Glomerular sclerosis |
ORPHA:247691 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Mild proteinuria |
OMIM:619685 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Renal insufficiency, Mild proteinuria |
OMIM:619147 |
| Martin-Probst Syndrome |
|
Proteinuria, Chordee, Renal insufficiency, Micropenis |
OMIM:300519 |
| Wagro Syndrome |
|
Proteinuria, Nephroblastoma |
OMIM:612469 |
| Spondyloenchondrodysplasia |
|
Chronic kidney disease, Hematuria, Proteinuria |
ORPHA:1855 |
| Hellp Syndrome |
|
Hemoglobinuria, Proteinuria, Acute kidney injury |
ORPHA:244242 |
| Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Anuria, Decreased glomerular filtration ra... |
ORPHA:340 |
| Lymphatic Filariasis |
|
Urethral obstruction, Hematuria, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Neph... |
ORPHA:2035 |
| Galloway-Mowat Syndrome 1 |
|
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis... |
OMIM:251300 |
| Fabry Disease |
|
Nephropathy, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Abnormal renal tubule m... |
ORPHA:324 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Acute kidney injury, Glycosuria, Renal insufficiency, Proteinuria, Renal ... |
ORPHA:447 |
| Xfe Progeroid Syndrome |
|
Proteinuria, Renal insufficiency |
OMIM:610965 |
| Cockayne Syndrome Type 1 |
|
Proteinuria, Renal insufficiency |
ORPHA:90321 |
| Lowe Oculocerebrorenal Syndrome |
|
Aminoaciduria, Rickets, Osteomalacia, Low-molecular-weight proteinuria, Stage 5 chronic kidney di... |
OMIM:309000 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Osteomalacia, Renal insufficiency, Nephrolit... |
ORPHA:534 |
| Cornelia De Lange Syndrome 1 |
|
Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflux, Proteinu... |
OMIM:122470 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Myoglobinuria |
OMIM:255125 |
| Holoprosencephaly |
|
Abnormality of the urinary system, Hypoglycemia, Proteinuria, Hypoplasia of penis, Diabetes mellitus |
ORPHA:2162 |
| Agel Amyloidosis |
|
Proteinuria, Stage 5 chronic kidney disease |
ORPHA:85448 |
| Imerslund-Gräsbeck Syndrome |
|
Proteinuria |
ORPHA:35858 |
| Neuroleptic Malignant Syndrome |
|
Urinary incontinence, Proteinuria, Myoglobinuria, Acute kidney injury |
ORPHA:94093 |
| Adult-Onset Still Disease |
|
Proteinuria |
ORPHA:829 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hemoglobinuria |
OMIM:194380 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Myoglobinuria |
ORPHA:206549 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Focal segmental glomerulosclerosis, Osteopenia, Glucose intolerance, Proteinuria, Osteolytic defe... |
OMIM:619127 |
| Immunoglobulin A Vasculitis |
|
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency |
ORPHA:761 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Hemoglobinuria |
OMIM:300908 |
| Pearson Syndrome |
|
Glycosuria, Renal insufficiency, Proteinuria, Renal cyst, Lacticaciduria, Diabetes mellitus |
ORPHA:699 |
| Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Reduced bone mine... |
ORPHA:2750 |
| Cockayne Syndrome B |
|
Renal insufficiency, Proteinuria, Micropenis, Osteoporosis, Ivory epiphyses of the phalanges of t... |
OMIM:133540 |
| Cocaine Intoxication |
|
Acute kidney injury, Hematuria, Proteinuria, Glomerulonephritis, Tubulointerstitial nephritis |
ORPHA:90068 |
| Cockayne Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Proteinuria, Neurogenic bladder... |
ORPHA:191 |
| Gaucher Disease |
|
Osteopenia, Hematuria, Proteinuria, Increased bone mineral density, Osteolysis, Abnormal bone str... |
ORPHA:355 |
| Aymé-Gripp Syndrome |
|
Proteinuria, Craniosynostosis |
ORPHA:1272 |
| Bardet-Biedl Syndrome 20 |
|
Proteinuria, Micropenis |
OMIM:619471 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Acute kidney injury, Oliguria, Anuria, Decreased urine output, Nephrotic range proteinuria, Diabe... |
ORPHA:544482 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Sterile pyuria, Beta 2-microglobulinuria, Decreased glomerular filtration rate, Re... |
ORPHA:91500 |
| Granulomatosis With Polyangiitis |
|
Ureteral stenosis, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Hydronephrosis |
ORPHA:900 |
| Williams Syndrome |
|
Type II diabetes mellitus, Osteopenia, Renal insufficiency, Renal duplication, Multiple renal cys... |
ORPHA:904 |
| Malignant Hyperthermia Of Anesthesia |
|
Acute kidney injury, Myoglobinuria |
ORPHA:423 |
| Cockayne Syndrome A |
|
Micropenis, Proteinuria, Renal insufficiency, Ivory epiphyses of the phalanges of the hand |
OMIM:216400 |
| Goodpasture Syndrome |
|
Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein... |
OMIM:233450 |
| Pierson Syndrome |
|
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,... |
OMIM:609049 |
| Familial Mediterranean Fever |
|
Nephropathy, Nephrotic syndrome, Nephrocalcinosis, Proteinuria |
ORPHA:342 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, Pr... |
OMIM:614748 |
| Relapsing Polychondritis |
|
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency |
ORPHA:728 |
| Orofaciodigital Syndrome I |
|
Proteinuria, Polycystic kidney dysplasia |
OMIM:311200 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hemoglobinuria, Acute kidney injury, Anuria |
ORPHA:90038 |
| Systemic Lupus Erythematosus |
|
Hematuria, Proteinuria, Lupus nephritis, Pyuria |
ORPHA:536 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Proteinuria, Reduced bone mineral density |
OMIM:616682 |
| Postinfectious Vasculitis |
|
Hematuria, Proteinuria, Glomerulonephritis, Membranoproliferative glomerulonephritis |
ORPHA:48435 |
| Glycogen Storage Disease Xii |
|
Hemoglobinuria |
OMIM:611881 |
| Kawasaki Disease |
|
Proteinuria, Sterile pyuria |
ORPHA:2331 |
| Crimean-Congo Hemorrhagic Fever |
|
Hematuria, Proteinuria |
ORPHA:99827 |
| Pmm2-Cdg |
|
Insulin resistance, Osteopenia, Hyperinsulinemia, Proteinuria, Abnormal renal tubule morphology, ... |
ORPHA:79318 |
