Nephrotic Syndrome, Type 17 |
|
Short stature, Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome,... |
OMIM:618176 |
Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... |
OMIM:619201 |
Nephrotic Syndrome, Type 18 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:301028 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... |
OMIM:616002 |
Focal Segmental Glomerulosclerosis 8 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616032 |
Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Podocyte foot process effacement, Focal segmental glomeruloscle... |
OMIM:619263 |
Focal Segmental Glomerulosclerosis 2 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscleros... |
OMIM:603965 |
Focal Segmental Glomerulosclerosis 10 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... |
OMIM:256020 |
Nephrotic Syndrome, Type 9 |
|
Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy... |
OMIM:615573 |
Nephrotic Syndrome, Type 26 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:620049 |
Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:614131 |
Focal Segmental Glomerulosclerosis 5 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:613237 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria |
OMIM:607832 |
Nephrotic Syndrome, Type 13 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:616893 |
Lipoprotein Glomerulopathy |
|
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria |
OMIM:611771 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Nephropathy, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis |
OMIM:182690 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Short stature, Beta 2-... |
OMIM:308990 |
Nephrotic Syndrome, Type 2 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:600995 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... |
OMIM:310468 |
Focal Segmental Glomerulosclerosis 9 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis |
OMIM:616220 |
Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:617783 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr... |
OMIM:614650 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:612551 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Focal segmental glo... |
OMIM:613092 |
Nephronophthisis 13 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glomerular subepithelial immune-comp... |
OMIM:614377 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:614455 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Short stature, Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephri... |
OMIM:301006 |
Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:614196 |
Focal Segmental Glomerulosclerosis 1 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:603278 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Stage 5 chronic kidney disease, Nephrotic syndrome, Pro... |
OMIM:601894 |
Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Foc... |
OMIM:610725 |
Proteinuria, Chronic Benign |
|
Renal insufficiency, Proteinuria, Albuminuria |
OMIM:618884 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropa... |
OMIM:137950 |
Galloway-Mowat Syndrome 8 |
|
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:618349 |
Oculorenocerebellar Syndrome |
|
Nephropathy, Glomerular sclerosis |
OMIM:257970 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic-uremic syndrome, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney diseas... |
OMIM:615008 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Stage 5 chronic kidney disease, Proteinuria, Nephrotic syndrome |
OMIM:614199 |
Galloway-Mowat Syndrome 5 |
|
Stage 5 chronic kidney disease, Proteinuria, Pachygyria, Steroid-resistant nephrotic syndrome, Fo... |
OMIM:617731 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr... |
OMIM:619155 |
Nephrotic Syndrome, Type 4 |
|
Nephroblastoma, Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency, Focal segme... |
OMIM:256370 |
Nephrotic Syndrome, Type 12 |
|
Stage 5 chronic kidney disease, Hematuria, Diffuse mesangial sclerosis, Steroid-resistant nephrot... |
OMIM:616892 |
C3 Glomerulopathy 3 |
|
Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... |
OMIM:614809 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Short stature, Proteinuria, Microscopic hematuria |
ORPHA:2613 |
Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Proteinuria |
ORPHA:419 |
Branchiootorenal Syndrome 2 |
|
Renal insufficiency, Renal dysplasia |
OMIM:610896 |
Polycystic Kidney Disease 7 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... |
OMIM:620056 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits |
ORPHA:69063 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinu... |
OMIM:617006 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Severe short stature, Nephropathy, Proteinuria |
ORPHA:2820 |
Nephrotic Syndrome, Type 1 |
|
Renal tubular atrophy, Congenital nephrotic syndrome, Small for gestational age, Glomerular scler... |
OMIM:256300 |
Galloway-Mowat Syndrome 6 |
|
Decreased body weight, Short stature, Nephrotic syndrome, Growth delay, Proteinuria, Focal segmen... |
OMIM:618347 |
Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Minimal change glomerulonep... |
OMIM:617609 |
Galloway-Mowat Syndrome 4 |
|
Congenital nephrotic syndrome, Short stature, Nephrotic syndrome, Stage 5 chronic kidney disease,... |
OMIM:617730 |
Bardet-Biedl Syndrome 10 |
|
Renal cyst, Renal insufficiency, Obesity |
OMIM:615987 |
Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Mesangial hypercellu... |
OMIM:616818 |
Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria |
OMIM:613944 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney disease, Mic... |
ORPHA:54370 |
Bardet-Biedl Syndrome 18 |
|
Stage 5 chronic kidney disease, Renal insufficiency, Obesity |
OMIM:615995 |
Frasier Syndrome |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:136680 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Short stature, Beta 2-microglobulinuria, Medullary nephrocalcin... |
OMIM:611555 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Obesity |
OMIM:615991 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Foamy urine, Diffuse mesangial... |
ORPHA:656 |
Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Chronic decreased circulating total IgG, Decreased specific pneumoco... |
OMIM:613496 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Acute kidney injury, Stage 5 chronic kidney disease, Minimal change glomer... |
ORPHA:567548 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Short stature, Renal cyst, Nephropathy, Focal segmental glomerulosclerosis, Intrauterine growth r... |
OMIM:617056 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Proteinuria, Microscopic hematuria |
OMIM:161900 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... |
OMIM:601331 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:616730 |
Preeclampsia/Eclampsia 1 |
|
Proteinuria, Intrauterine growth retardation |
OMIM:189800 |
Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
Bardet-Biedl Syndrome 16 |
|
Short stature, Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Renal cyst, Renal... |
OMIM:615993 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Weight loss, Ketonuria, Glycosuria, Moderate albuminuria, Abnormality of the upper urinary tract,... |
ORPHA:99885 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Acute kidney injury, Glomerulonephritis, Glomerular C3 deposition, Proteinuri... |
ORPHA:567544 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome |
OMIM:613913 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Abnormal tubulointerstitial morphology, Nephropathy, Chronic kidney disease |
OMIM:602114 |
C3 Glomerulopathy |
|
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... |
ORPHA:329918 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Obesity, Growth delay, Proportionate short stature, Hydronephrosis |
OMIM:619269 |
Cystinuria |
|
Hyperlysinuria, Recurrent urinary tract infections, Ornithinuria, Cystinuria, Argininuria, Renal ... |
OMIM:220100 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Short stature, Nephrotic syndrome, Stage... |
OMIM:618348 |
Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... |
ORPHA:730 |
Camos Syndrome |
|
Renal insufficiency, Nephrotic syndrome |
ORPHA:83472 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome |
OMIM:608709 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Nephrotic syndrome |
OMIM:613779 |
Galactosemia I |
|
Aminoaciduria, Galactosuria, Failure to thrive, Increased level of galactitol in urine, Albuminuria |
OMIM:230400 |
Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria |
OMIM:161950 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Hypospadias, Growth delay, Proteinuria |
OMIM:619428 |
Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Proteinuria, Hematuria |
ORPHA:2134 |
Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
Nephronophthisis 20 |
|
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... |
OMIM:617271 |
Nephrotic Syndrome, Type 14 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mes... |
OMIM:617575 |
Frasier Syndrome |
|
Nephroblastoma, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Proteinuria, Focal segme... |
ORPHA:347 |
Complement Factor H Deficiency |
|
Glomerular subendothelial electron-dense deposits, Hematuria, Thickened glomerular basement membr... |
OMIM:609814 |
Renal Hypoplasia |
|
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... |
ORPHA:93101 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abnormal glomerular mesangium morphology... |
ORPHA:84090 |
Nephrotic Syndrome, Type 8 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Thin glomerular ... |
OMIM:615244 |
Alport Syndrome |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Glomerular basement membrane lamellation... |
ORPHA:63 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome |
OMIM:249660 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal cortic... |
OMIM:174000 |
Preeclampsia |
|
Increased body mass index, Acute kidney injury, Abnormality of the kidney, Small for gestational ... |
ORPHA:275555 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Stage 5 chronic kidney disease, Microscopic hematuria, Minimal change glomerulonephritis, Macrosc... |
ORPHA:567546 |
Nephrosialidosis |
|
Nephropathy, Renal insufficiency, Death in childhood, Nephrotic syndrome |
OMIM:256150 |
Nephronophthisis |
|
Renal insufficiency |
ORPHA:655 |
Lessel-Kubisch Syndrome |
|
Renal hypoplasia, Renal insufficiency, Short stature |
OMIM:618681 |
Dent Disease |
|
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... |
ORPHA:1652 |
Galloway-Mowat Syndrome 10 |
|
Stage 5 chronic kidney disease, Simplified gyral pattern, Podocyte foot process effacement, Diffu... |
OMIM:619609 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Cednik Syndrome |
|
Short stature, Nephrotic syndrome, Pachygyria, Proteinuria, Polymicrogyria |
ORPHA:66631 |
Nephrotic Syndrome, Type 21 |
|
Stage 5 chronic kidney disease, Podocyte foot process effacement, Steroid-resistant nephrotic syn... |
OMIM:618594 |
Nephronophthisis 7 |
|
Nephronophthisis, Renal tubular atrophy, Stage 5 chronic kidney disease |
OMIM:611498 |
Dent Disease 2 |
|
Aminoaciduria, Proximal tubulopathy, Short stature, Low-molecular-weight proteinuria, Nephrocalci... |
OMIM:300555 |
Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Death in infancy, Agyria, Lissencephaly, Pachygyria, Micropenis, Postnat... |
OMIM:300067 |
Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Steroid-resistant nephrotic ... |
OMIM:615861 |
Aapoaiv Amyloidosis |
|
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Par... |
ORPHA:439232 |
Adenine Phosphoribosyltransferase Deficiency |
|
Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... |
ORPHA:976 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Nephrotic syndrome |
OMIM:614652 |
Senior-Loken Syndrome 5 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:609254 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Focal segmental glomerulosclerosis, Recurr... |
OMIM:607426 |
Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency |
ORPHA:1909 |
Galloway-Mowat Syndrome 3 |
|
Short stature, Nephrotic syndrome, Stage 5 chronic kidney disease, Simplified gyral pattern, Liss... |
OMIM:617729 |
Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment |
OMIM:617572 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... |
OMIM:312700 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Weight loss, Hematuria, Elevated urinary epinephrine, Glomerular sclerosis, Elevated urinary dopa... |
ORPHA:276621 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Nephropathy, Bence Jones Proteinuria, Weight loss |
ORPHA:100024 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Short stature, Nephrotic syndrome, Small for gestational age, Mucopolysacchariduria, Decreased ci... |
OMIM:215250 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Microscopic hematuria |
ORPHA:79087 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:225 |
Schimke Immuno-Osseous Dysplasia |
|
Nephrotic range proteinuria, Short stature, Stage 5 chronic kidney disease, Small for gestational... |
ORPHA:1830 |
Autoinflammatory-Pancytopenia Syndrome |
|
Growth delay, Failure to thrive, Proteinuria, Membranoproliferative glomerulonephritis |
OMIM:619858 |
Amyloidosis, Familial Visceral |
|
Nephropathy, Hematuria, Proteinuria, Nephrotic syndrome |
OMIM:105200 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Growth delay, Weight loss |
ORPHA:79238 |
Schimke Immunoosseous Dysplasia |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Decreased circulating antibody level, Small f... |
OMIM:242900 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Proteinuria |
OMIM:245900 |
Bardet-Biedl Syndrome 19 |
|
Renal hypoplasia, Renal insufficiency, Obesity, Hydronephrosis |
OMIM:615996 |
Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Tubulointerstitial nephritis, Acute kidney injury, Glomerular sclero... |
ORPHA:93126 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Renal insufficiency, Myoglobinuria |
OMIM:255110 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Moderate albuminuria, Simplified gyral pattern, Obesity |
OMIM:614231 |
Hereditary Renal Hypouricemia |
|
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... |
ORPHA:94088 |
Coach Syndrome 3 |
|
Renal tubular atrophy, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal interst... |
OMIM:619113 |
Al Amyloidosis |
|
Weight loss, Nephrotic syndrome, Renal interstitial amyloid deposits, Abnormality of the kidney, ... |
ORPHA:85443 |
Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
Aicardi-Goutieres Syndrome 9 |
|
Weight loss, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Intrauterine gro... |
OMIM:619487 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Aminoaciduria, Renal tubular acidosis, Death in infancy, Glycosuria, Lissencephaly, Failure to th... |
OMIM:613404 |
Nephronophthisis 12 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613820 |
Senior-Loken Syndrome 8 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Global glomerulosclerosis, Glomerular subepithe... |
OMIM:616307 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Abnormal renal tubule morphology, Proteinuria, Nephrotic syndrome |
ORPHA:839 |
Renal Hypoplasia, Bilateral |
|
Vesicoureteral reflux, Short stature, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria... |
ORPHA:97362 |
Hypercalcemia, Infantile, 1 |
|
Weight loss, Medullary nephrocalcinosis, Failure to thrive, Polyuria, Nephrocalcinosis, Nephrolit... |
OMIM:143880 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Nephrotic syndrome, Nephropathy, Proteinuria, Renal insufficiency, Focal segmenta... |
OMIM:254900 |
Retinitis Pigmentosa 59 |
|
Failure to thrive, Renal insufficiency, Micropenis, Intrauterine growth retardation |
OMIM:613861 |
Senior-Loken Syndrome |
|
Stage 5 chronic kidney disease, Nephronophthisis, Short stature, Chronic kidney disease |
ORPHA:3156 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Failure to thrive, Membranoproliferative glomerulonephritis, Microscopic he... |
OMIM:619525 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... |
OMIM:143400 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria, Short stature |
OMIM:620010 |
Glycogen Storage Disease X |
|
Renal insufficiency, Myoglobinuria |
OMIM:261670 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Reduced renal corti... |
OMIM:617610 |
Aa Amyloidosis |
|
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
Denys-Drash Syndrome |
|
Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:220 |
Joubert Syndrome 4 |
|
Stage 5 chronic kidney disease, Renal insufficiency, Nephronophthisis, Abnormal renal medulla mor... |
OMIM:609583 |
Familial Drusen |
|
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... |
ORPHA:75376 |
X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:1852 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts |
OMIM:609886 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Short stature, Proteinuria, Nephrotic syndrome |
ORPHA:1192 |
Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Increased circulating IgG4 level, Renal interstitial immunoglobulin ... |
ORPHA:449395 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:2668 |
Anti-Glomerular Basement Membrane Disease |
|
Renal insufficiency, Glomerulopathy, Proteinuria, Hematuria |
ORPHA:375 |
Galloway-Mowat Syndrome 9 |
|
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis |
OMIM:619603 |
Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria |
ORPHA:54057 |
Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria, Microscopic hematuria |
OMIM:261100 |
Glycogen Storage Disease Xi |
|
Renal insufficiency, Myoglobinuria |
OMIM:612933 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Weight loss, Renal cell carcinoma, Elevated urinary epinephrine, Hematuria, Glomerular sclerosis,... |
ORPHA:29072 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Rhizomelia, Short stature, Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, ... |
OMIM:614376 |
Glycogen Storage Disease Ia |
|
Short stature, Enlarged kidney, Delayed puberty, Decreased glomerular filtration rate, Growth del... |
OMIM:232200 |
Hypouricemia, Renal, 1 |
|
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... |
OMIM:220150 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Short stature, Abnormality of the kidney, Failure to thrive, Delayed puberty, Growth delay, Prote... |
ORPHA:369 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Proximal tubulopathy, Weight loss, Cachexia, Failure to thrive |
OMIM:612075 |
Oligomeganephronia |
|
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... |
ORPHA:2260 |
Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:203780 |
Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Myoglobinuria |
OMIM:160010 |
Adenine Phosphoribosyltransferase Deficiency |
|
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Renal insufficiency, Nephro... |
OMIM:614723 |
Acrorenal Syndrome |
|
Renal hypoplasia/aplasia, Renal insufficiency, Abnormal renal morphology |
ORPHA:971 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:104200 |
Xanthinuria, Type Ii |
|
Xanthinuria, Renal insufficiency, Nephrolithiasis, Increased urinary hypoxanthine |
OMIM:603592 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria... |
OMIM:612925 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Gray matter heterotopia, Polymicrogyria, Failure to thrive, Hypospadias, Albuminur... |
OMIM:214100 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, ... |
ORPHA:228302 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Glomerulonephritis, Chronic kidney disease |
ORPHA:2172 |
Hinman Syndrome |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Enuresis, Renal insufficiency, Hydrone... |
ORPHA:84085 |
Nephronophthisis-Like Nephropathy 2 |
|
Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Renal insufficiency, Perigl... |
OMIM:619468 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal amyloidosis, Renal insufficiency, Proteinuria |
OMIM:134610 |
Familial Reactive Perforating Collagenosis |
|
Chronic kidney disease |
ORPHA:79147 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Impaired renal concentrating ability, Renal salt wasting, Hypernatriuria, Hyperchloriduria, Reduc... |
OMIM:602522 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Nephrotic syndrome, Enlarged kidney, Nephritis, Bone marrow hypocellularit... |
OMIM:617303 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Failure to thrive, Duplicated collecting system, Intrauterine growth retardation, Postnatal growt... |
OMIM:617093 |
Urofacial Syndrome 2 |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Bladder trabeculation, Urinary urgency... |
OMIM:615112 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Stage 5 chronic kidney disease, Renal insufficiency, Bilateral renal atrophy, Proteinuria |
OMIM:166300 |
Hepatic Veno-Occlusive Disease |
|
Renal insufficiency, Increased body weight |
ORPHA:890 |
Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Proximal tubulopathy, Short stature, Glycosuria, Generalized aminoacidur... |
OMIM:613388 |
Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis |
OMIM:618913 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating antibody level, Acute kidney injury, Decre... |
ORPHA:859 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Growth delay, Increased blood urea nitrogen, Abnormal renal physiology, Glomerular sclerosis |
OMIM:223900 |
Nephronophthisis 16 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Nephronophthisis, R... |
OMIM:615382 |
Distal 16P11.2 Microdeletion Syndrome |
|
Vesicoureteral reflux, Abnormality of the kidney, Renal agenesis, Proteinuria, Obesity, Chronic k... |
ORPHA:261222 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612926 |
Denys-Drash Syndrome |
|
Nephroblastoma, Neonatal death, Nephrotic syndrome, Stage 5 chronic kidney disease, Enlarged kidn... |
OMIM:194080 |
Myoglobinuria, Recurrent |
|
Exercise-induced myoglobinuria, Recurrent myoglobinuria |
OMIM:550500 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Short stature, Enlarged kidney, Membranoproliferative glomerulonephritis, Increased blood urea ni... |
ORPHA:251004 |
Dent Disease 1 |
|
Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Short stature, Stage 5 chronic kidn... |
OMIM:300009 |
Alagille Syndrome 2 |
|
Renal insufficiency, Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Proteinuria |
OMIM:610205 |
Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency |
ORPHA:254857 |
Laurence-Moon Syndrome |
|
Short stature, Hypoplasia of penis, Renal insufficiency, Obesity, Displacement of the urethral me... |
ORPHA:2377 |
Systemic Sclerosis |
|
Acute kidney injury, Abnormality of the kidney, Glomerulonephritis, Albuminuria, Proteinuria, Ren... |
ORPHA:90291 |
Lcat Deficiency |
|
Renal insufficiency, Acute kidney injury, Stage 5 chronic kidney disease, Decreased glomerular fi... |
ORPHA:650 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612924 |
Amyloidosis, Finnish Type |
|
Renal insufficiency, Nephrotic syndrome |
OMIM:105120 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Uric acid nephrolithiasis, Crystalluria, Stage 4 chronic kidney disease, Acute kidney injury, Ren... |
ORPHA:411536 |
Jeune Syndrome |
|
Nephronophthisis, Nephropathy, Renal insufficiency, Short stature |
ORPHA:474 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Renal insufficiency, Myoglobinuria |
ORPHA:2364 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Glomerular basement membrane lamellation, Stage 5 chronic kidney disease, Hematuria, Abnormal ren... |
OMIM:308940 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Neurogenic bladder, Failure to thrive,... |
OMIM:191800 |
Nephronophthisis 9 |
|
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
Posterior Urethral Valve |
|
Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention... |
ORPHA:93110 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Acute kidney injury, Dysuria, Renal tubular epithelial necrosis, Moderate albuminuria, Hematuria,... |
ORPHA:95455 |
Galloway-Mowat Syndrome 1 |
|
Short stature, Nephrotic syndrome, Small for gestational age, Diffuse mesangial sclerosis, Protei... |
OMIM:251300 |
Glycogen Storage Disease Ib |
|
Short stature, Enlarged kidney, Delayed puberty, Decreased glomerular filtration rate, Proteinuri... |
OMIM:232220 |
Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Lacticaci... |
OMIM:134600 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis |
ORPHA:3327 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Tubulointerstitial nephritis, Short stature, Death in infancy, Hematuria, Proteinuria, Death in c... |
OMIM:616901 |
Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis, Lissencephaly, Short stature |
ORPHA:281090 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Renal insufficiency |
ORPHA:28 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Renal insufficiency, Death in infancy, Lacticaciduria |
OMIM:619386 |
Tyrosinemia, Type I |
|
Enlarged kidney, Glomerular sclerosis, Failure to thrive, Growth delay, Nephrocalcinosis, Renal i... |
OMIM:276700 |
Fanconi Anemia, Complementation Group O |
|
Short stature, Death in infancy, Stage 5 chronic kidney disease, Miscarriage, Renal cyst, Neonata... |
OMIM:613390 |
Dyschondrosteosis-Nephritis Syndrome |
|
Short stature, Hematuria, Mesomelic short stature, Nephropathy, Proteinuria, Intrauterine growth ... |
ORPHA:1765 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Nephropathy, Proteinuria, Glomerular sclerosis |
ORPHA:247691 |
Attrv30M Amyloidosis |
|
Nephropathy, Abnormal renal physiology, Weight loss |
ORPHA:85447 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Renal salt wasting, Increased blood urea nitrogen, Failure to thrive, Polyuria, Proteinuria, Hype... |
OMIM:613845 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Rhizomelia, Short stature, Unilateral renal agenesis, Renal hypoplasia, Chronic kidney disease |
OMIM:617661 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Weight loss, Nephrotic syndrome, Abnormality of the kidn... |
ORPHA:91139 |
Cystinosis |
|
Aminoaciduria, Short stature, Failure to thrive, Nephropathy, Delayed puberty, Proteinuria, Renal... |
ORPHA:213 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Large for gestational age, Nephrocal... |
OMIM:616026 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Hematuria, Increased circulating IgA level |
OMIM:314000 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Nephritis, Nephropathy, Decreased glomerular filtration rate, Renal insuff... |
OMIM:162000 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Hematuria, Abnormal renal physiology, Chronic kidney disease |
OMIM:123550 |
Free Sialic Acid Storage Disease |
|
Proteinuria, Failure to thrive in infancy, Nephrotic syndrome |
ORPHA:834 |
Granulomatous Slack Skin |
|
Acute kidney injury, Nephrocalcinosis |
ORPHA:33111 |
Immunodeficiency 91 And Hyperinflammation |
|
Hemolytic-uremic syndrome, Death in infancy, Nephrotic syndrome, Membranoproliferative glomerulon... |
OMIM:619644 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Cachexia, Proteinuria |
ORPHA:2774 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Myoglobinuria |
OMIM:268200 |
Acquired Ichthyosis |
|
Renal insufficiency |
ORPHA:454 |
Myh9-Related Disease |
|
Nephropathy, Renal insufficiency, Nephritis, Proteinuria |
ORPHA:182050 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Growth delay, Low-molecular-weight p... |
OMIM:615605 |
Tubulointerstitial Nephritis With Uveitis |
|
Glomerulonephritis, Reversible renal failure, Acute tubulointerstitial nephritis |
OMIM:607665 |
Papillorenal Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Short stature, Stage 5 chronic kidney diseas... |
OMIM:120330 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Proximal tubulopathy, Short stature, Low-molecular-weight proteinuria, N... |
OMIM:300554 |
Lesch-Nyhan Syndrome |
|
Renal insufficiency, Hematuria |
ORPHA:510 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Megabladder, Congenital |
|
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Fetal megacystis, Multiple glomerular cysts |
OMIM:618719 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Focal segmental glomerulosclerosis |
OMIM:616239 |
Nephronophthisis 18 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Thickened gl... |
OMIM:615862 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst... |
OMIM:256100 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal tubular acidosis, Renal dysplasia, Death in infancy, Renal cyst, Pachygyria, Renal hypoplas... |
OMIM:614922 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... |
OMIM:604387 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Myoglobinuria |
OMIM:602199 |
Apparent Mineralocorticoid Excess |
|
Short stature, Renal sodium wasting, Failure to thrive, Nephrocalcinosis, Renal insufficiency, Ab... |
ORPHA:320 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Nephrotic syndrome, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Distal renal tubular ... |
OMIM:146255 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal cyst, Renal insufficiency, Hematuria |
OMIM:611773 |
Glucose-Galactose Malabsorption |
|
Weight loss, Hematuria, Failure to thrive, Renal insufficiency, Nephrolithiasis |
ORPHA:35710 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glomerular filtration rate... |
OMIM:618061 |
Nephrogenic Diabetes Insipidus |
|
Hyposthenuria, Enuresis nocturna, Short stature, Hydroureter, Failure to thrive, Growth delay, Re... |
ORPHA:223 |
Malaria |
|
Acute kidney injury |
ORPHA:673 |
Renal Coloboma Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal ins... |
ORPHA:1475 |
Liddle Syndrome |
|
Nephropathy, Renal insufficiency |
ORPHA:526 |
Wild Type Attr Amyloidosis |
|
Weight loss, Nephrotic syndrome, Nephropathy, Proteinuria, Renal insufficiency |
ORPHA:330001 |
Phosphoglycerate Kinase 1 Deficiency |
|
Exercise-induced myoglobinuria, Renal insufficiency |
OMIM:300653 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Small for gestational age, Failure to thrive, Hypospadias, Mild proteinuria, Growth delay, Renal ... |
OMIM:619147 |
Birk-Landau-Perez Syndrome |
|
Tubulointerstitial nephritis, Stage 3 chronic kidney disease, Growth delay, Pachygyria, Renal hyp... |
OMIM:617595 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Renal artery stenosis, Proteinuria |
OMIM:209010 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight, Long penis |
ORPHA:1672 |
Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Intrauterin... |
ORPHA:255249 |
Ochoa Syndrome |
|
Urinary incontinence, Vesicoureteral reflux, Recurrent urinary tract infections, Renal insufficie... |
ORPHA:2704 |
Hereditary Xanthinuria |
|
Uric acid nephrolithiasis, Crystalluria, Recurrent urinary tract infections, Acute kidney injury,... |
ORPHA:3467 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Uric acid nephrolithiasis, Acute kidney injury, Dysuria, Nephropathy, Macroscopic hematuria, Rena... |
ORPHA:79233 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal duplication, Aplasia of the bladder, Renal dysplasia, Glomerular sclerosis, Ureterocele, Ab... |
ORPHA:158684 |
Glycogen Storage Disease Ic |
|
Hematuria, Delayed puberty, Decreased glomerular filtration rate, Proteinuria, Renal insufficienc... |
OMIM:232240 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Renal insufficiency, Weight loss, Nephrotic ... |
ORPHA:85450 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal hypoplasia, Renal insufficiency, Short stature, Proteinuria |
ORPHA:1307 |
Familial Isolated Hyperparathyroidism |
|
Nephrocalcinosis, Hyperphosphaturia, Renal insufficiency, Hypercalciuria |
ORPHA:99879 |
Prune Belly Syndrome |
|
Urogenital sinus anomaly, Vesicoureteral reflux, Multicystic kidney dysplasia, Recurrent urinary ... |
ORPHA:2970 |
Primary Hyperoxaluria Type 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, ... |
ORPHA:93599 |
Alport Syndrome 1, X-Linked |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Nep... |
OMIM:301050 |
Ddost-Cdg |
|
Nephrotic range proteinuria, Failure to thrive, Short stature |
ORPHA:300536 |
Hyperuricemia, Hprt-Related |
|
Renal insufficiency, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Uric acid nephrolithiasis, Crystalluria, Acute kidney injury, Renal insufficiency, Hyperuricosuria |
ORPHA:411543 |
Hyperoxaluria, Primary, Type Ii |
|
Calcium oxalate nephrolithiasis, Hematuria, Nephrocalcinosis, Renal insufficiency, Hyperoxaluria |
OMIM:260000 |
Glycogen Storage Disease V |
|
Myoglobinuria, Dark urine |
OMIM:232600 |
Galloway-Mowat Syndrome |
|
Abnormality of neuronal migration, Short stature, Nephrotic syndrome, Nephropathy, Pachygyria, Pr... |
ORPHA:2065 |
Hypomagnesemia 3, Renal |
|
Hypocitraturia, Hypercitraturia, Recurrent urinary tract infections, Hypermagnesiuria, Hematuria,... |
OMIM:248250 |
Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Small for gestational age, Abnormal renal corticomedullary differentiation, Intr... |
OMIM:616733 |
Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Proteinuria, Death in infancy |
OMIM:618886 |
Majeed Syndrome |
|
Glomerulopathy, Weight loss, Cachexia, Failure to thrive, Proteinuria, Microscopic hematuria |
ORPHA:77297 |
Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptides, Prote... |
OMIM:256550 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Recurrent myoglobinuria, Chronic... |
ORPHA:368 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Gr... |
OMIM:606966 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Short stature, Proteinuria |
ORPHA:2715 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Failure to thrive, Proteinuria, Renal Fanconi syndr... |
OMIM:220110 |
Muckle-Wells Syndrome |
|
Renal amyloidosis, Renal insufficiency, Short stature |
OMIM:191900 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Acute kidney injury, Myoglobinuria, Growth delay |
ORPHA:57 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Stage 5 chronic kidney disease, Glomerular basement membrane disruption, Thickened glomerular bas... |
OMIM:609057 |
Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria |
ORPHA:91138 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal tubular atrophy, Nephrotic syndrome, Decreased glomerular filtration rate, Proteinuria, Ren... |
OMIM:614748 |
Igg4-Related Retroperitoneal Fibrosis |
|
Weight loss, Nephrotic syndrome, Acute kidney injury, Dysuria, Renal tubular epithelial necrosis,... |
ORPHA:49041 |
Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Thickening of the tubular b... |
OMIM:266900 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Increased circulating antibody level, Proteinuria |
ORPHA:69126 |
Diffuse Neonatal Hemangiomatosis |
|
Renal hypoplasia/aplasia, Renal insufficiency |
ORPHA:2123 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Proteinuria, Decreased platelet glycoprotein Ib |
OMIM:603585 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal insufficiency, Growth delay, Renal tubular dysfunction |
ORPHA:289916 |
Melas |
|
Proximal tubulopathy, Short stature, Failure to thrive, Nephropathy, Proteinuria, Focal segmental... |
ORPHA:550 |
Renal Agenesis |
|
Ureteral agenesis, Renal insufficiency, Bilateral renal agenesis, Renal agenesis, Unilateral rena... |
ORPHA:411709 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Nephroblastoma, Nephropathy, Hypospadias, Renal insufficiency, Obesity |
OMIM:194072 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate, Proteinur... |
ORPHA:488627 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Failure to thrive, Proteinuria, Renal Fanconi syndr... |
ORPHA:436271 |
Heme Oxygenase 1 Deficiency |
|
Proteinuria, Hematuria, Growth delay, Nephritis |
OMIM:614034 |
Alg1-Cdg |
|
Abnormality of the kidney, Renal insufficiency, Nephrotic syndrome |
ORPHA:79327 |
Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Hyperuricosuria, Short stature, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting... |
ORPHA:47159 |
Central Diabetes Insipidus |
|
Failure to thrive, Nocturia, Weight loss |
ORPHA:178029 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Abnormal renal physiology, Increased blood urea nitrogen, Proteinuria,... |
OMIM:274150 |
Renal Cysts And Diabetes Syndrome |
|
Stage 5 chronic kidney disease, Abnormality of the kidney, Glycosuria, Reduced sperm motility, Un... |
OMIM:137920 |
Rhyns Syndrome |
|
Nephronophthisis, Renal insufficiency, Short stature, Chronic kidney disease |
OMIM:602152 |
Rhabdoid Tumor |
|
Renal neoplasm, Hematuria, Weight loss |
ORPHA:69077 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamines, Elevated urinary vanillylmandelic acid, Weight loss, Abnormality... |
OMIM:256700 |
Xfe Progeroid Syndrome |
|
Cachexia, Failure to thrive, Severe short stature, Proteinuria, Death in adolescence, Renal insuf... |
OMIM:610965 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Tubulointerstitial nephritis, Abnormality of neuronal migration, Stage 5 chronic kidney disease, ... |
ORPHA:157 |
Nephronophthisis 2 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Absence of renal corticomedullary differentiatio... |
OMIM:602088 |
Cystinuria |
|
Renal insufficiency, Hematuria, Nephrolithiasis |
ORPHA:214 |
Juvenile Nephropathic Cystinosis |
|
Abnormal urine potassium concentration, Aminoaciduria, Proximal tubulopathy, Renal phosphate wast... |
ORPHA:411634 |
Complement Factor I Deficiency |
|
Glomerulonephritis, Renal insufficiency, Pyelonephritis, Recurrent urinary tract infections |
OMIM:610984 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Hydroureter, Nephrolithiasis, Postnatal growth retardation |
OMIM:617219 |
Distal Renal Tubular Acidosis |
|
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Short stature, Hypermagnesiuria, Hyperphosph... |
ORPHA:18 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Intrauterine growth retardation, Postnatal growth retardation, Multiple bladder dive... |
ORPHA:2728 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Renal insufficiency |
OMIM:173900 |
Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Hyperuricosuria, Weight loss, Stage 5 chronic kidney disease, Renal sodi... |
ORPHA:3337 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria, Methylmalonic aciduria, Cachexia, Short stature |
ORPHA:1933 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Absent isohemagglutinin level, Reduced natural killer cell activity, Recurrent urinary tract infe... |
OMIM:615559 |
Non-Functioning Paraganglioma |
|
Weight loss, Hematuria, Elevated urinary epinephrine, Elevated urinary dopamine, Elevated urinary... |
ORPHA:94080 |
Genetic Recurrent Myoglobinuria |
|
Acute kidney injury, Exercise-induced myoglobinuria, Oliguria, Renal insufficiency, Dark urine, R... |
ORPHA:99845 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Hypermagnesiuria, Renal calci... |
OMIM:248190 |
Hyperprolinemia Type 2 |
|
Increased urine alpha-ketoglutarate concentration, Prolinuria, Renal insufficiency, Hydroxyprolin... |
ORPHA:79101 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Myoglobinuria |
ORPHA:713 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency |
ORPHA:3222 |
Nephroblastoma |
|
Nephroblastoma, Hematuria, Weight loss |
ORPHA:654 |
Becker Muscular Dystrophy |
|
Abnormal urinary color, Myoglobinuria |
ORPHA:98895 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Obesity, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:616629 |
Diffuse Alveolar Hemorrhage |
|
Proteinuria, Hematuria, Weight loss |
ORPHA:90060 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Renal insufficiency |
ORPHA:79312 |
3-Methylglutaconic Aciduria Type 7 |
|
3-Methylglutaconic aciduria, Renal cyst, Bone marrow hypocellularity, Growth delay, Nephrocalcino... |
ORPHA:445038 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Stage 5 chronic kidney disease, Proteinuria |
OMIM:219900 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Short stature, Renal dysplasia, Hypoplasia of penis, Renal hypoplasia, Renal insufficiency |
ORPHA:85321 |
Nephronophthisis 19 |
|
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Renal interstitial fibrosis, Nephronophth... |
OMIM:616217 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Nephronophthisis, Obesity, Short stature, Chronic kidney disease |
OMIM:615630 |
Renal Nutcracker Syndrome |
|
Weight loss, Hematuria, Renal artery stenosis, Proteinuria, Microscopic hematuria |
ORPHA:71273 |
Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia, Renal corticomedullary cysts, Renal insufficiency |
OMIM:219730 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Neonatal death, Enlarged kidney, Polycystic kidney dysplasi... |
OMIM:263200 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal dysplasia, Miscarriage, Hypospadias, Renal insufficiency, Intrauterine growth retardation, ... |
ORPHA:96179 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Acute kidney injury, Exercise-induced myoglobinuria, Chronic kidney disease |
ORPHA:284426 |
Babesiosis |
|
Renal insufficiency |
ORPHA:108 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Obesity, Truncal obesity |
OMIM:615986 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Tubulointerstitial nephritis, Abnormality of neuronal migration, Polycystic kidney dysplasia, Cys... |
ORPHA:228308 |
Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Stage ... |
OMIM:603860 |
Fabry Disease |
|
Delayed puberty, Urinary mulberry cells, Proteinuria, Renal insufficiency, Lipiduria |
OMIM:301500 |
Isolated Succinate-Coq Reductase Deficiency |
|
Vesicoureteral reflux, Weight loss, Severe short stature, Proportionate short stature, Intrauteri... |
ORPHA:3208 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hemolytic-uremic syndrome, Methylmalonic aciduria, Cystathioninuria, Hematuria, Failure to thrive... |
OMIM:277400 |
Renal Hypodysplasia/Aplasia 1 |
|
Proteinuria, Bilateral renal agenesis, Renal dysplasia |
OMIM:191830 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Nephropathy, Renal insufficiency, Short stature |
OMIM:247410 |
Hypomagnesemia 2, Renal |
|
Renal insufficiency, Hypocalciuria, Renal magnesium wasting |
OMIM:154020 |
Donnai-Barrow Syndrome |
|
Proteinuria |
ORPHA:2143 |
Gitelman Syndrome |
|
Tubulointerstitial nephritis, Urinary incontinence, Renal tubular acidosis, Nocturia, Failure to ... |
ORPHA:358 |
Yao Syndrome |
|
Nephrolithiasis, Weight loss |
OMIM:617321 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria, Growth delay |
OMIM:231530 |
Alagille Syndrome 1 |
|
Vesicoureteral reflux, Multiple small medullary renal cysts, Renal tubular acidosis, Renal dyspla... |
OMIM:118450 |
Primary Hyperoxaluria Type 1 |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Dysuria, Nephrocalcinosis, He... |
ORPHA:93598 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... |
OMIM:613095 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Weight loss, Increased circulating antibody level, Increased ci... |
ORPHA:449400 |
Bor Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junc... |
ORPHA:107 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Exercise-induced myoglobinuria |
ORPHA:352479 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Large for gestational age, Proteinuria, Renal Fanconi syndrome, Increased body weight |
ORPHA:263455 |
3-Methylglutaconic Aciduria, Type V |
|
3-Methylglutaconic aciduria, Failure to thrive, Hypospadias, 3-Methylglutaric aciduria, Intrauter... |
OMIM:610198 |
Spinocerebellar Ataxia 48 |
|
Urinary incontinence, Cachexia |
OMIM:618093 |
Amelogenesis Imperfecta, Type Ig |
|
Impaired renal concentrating ability, Nephrocalcinosis, Polyuria, Enuresis, Renal insufficiency |
OMIM:204690 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Systemic Capillary Leak Syndrome |
|
Abnormal renal tubule morphology, Renal insufficiency, Oliguria, Weight loss |
ORPHA:188 |
Hypocomplementemic Urticarial Vasculitis |
|
Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria |
ORPHA:36412 |
Nephronophthisis 11 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubular base... |
OMIM:613550 |
Arima Syndrome |
|
Renal tubular atrophy, Gray matter heterotopia, Stage 5 chronic kidney disease, Renal sodium wast... |
OMIM:243910 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Renal salt wasting, Hypernatriuria, Hyperchloriduria, Increased urinary potassium, Failure to thr... |
OMIM:613090 |
Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
Nail-Patella Syndrome |
|
Short stature, Nephrotic syndrome, Hematuria, Glomerulonephritis, Proteinuria, Renal insufficiency |
OMIM:161200 |
Ohdo Syndrome |
|
Proteinuria, Short stature |
OMIM:249620 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Weight loss, Stage 5 chronic kidney disease, Hematuria, Failure to thrive, Nephropathy, Proteinur... |
ORPHA:1018 |
Holocarboxylase Synthetase Deficiency |
|
Organic aciduria, Growth delay, Weight loss |
ORPHA:79242 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Obesity, Rhizomelia, Stage 1 chronic kidney disease |
OMIM:618821 |
Carcinoma Of Esophagus |
|
Obesity, Weight loss |
ORPHA:70482 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Short stature, Proteinuria, Focal segmental glomerulosclerosis, Death in childhood, Postnatal gro... |
OMIM:619127 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Microscopic hematuria |
ORPHA:86818 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Urolithiasis, Uric acid nephrolithiasis, Short stature, Small for gestational age, Hypospadias, R... |
OMIM:300661 |
Glycogen Storage Disease Ixd |
|
Exercise-induced myoglobinuria |
OMIM:300559 |
Cystinosis, Nephropathic |
|
Failure to thrive in infancy, Aminoaciduria, Weight loss, Short stature, Stage 5 chronic kidney d... |
OMIM:219800 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Proximal tubulopathy, Death in infancy, Nephrotic syndrome, Renal cyst, Failure to thrive, Decrea... |
OMIM:212065 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Vesicoureteral reflux, Bifid ureter, Renal dysplasia, Renal agenesis, Unilateral renal agenesis, ... |
OMIM:617641 |
Pediatric Systemic Lupus Erythematosus |
|
Nephrotic syndrome, Hematuria, Nephritis, Proteinuria, Abnormality of the urinary system, Renal i... |
ORPHA:93552 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria |
ORPHA:119 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Stage 5 chronic kidney disease, Vesicoureteral reflux, Ureteropelvic junction obstruction |
OMIM:610805 |
Dahlberg-Borer-Newcomer Syndrome |
|
Nephropathy, Renal insufficiency, Short stature |
ORPHA:1563 |
Senior-Loken Syndrome 3 |
|
Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Nephronophthisis, Enuresis |
OMIM:606995 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Short stature, Death in infancy, Nephritis, Renal cyst, Proteinuria, Renal insufficiency, Chronic... |
OMIM:208500 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Tubulointerstitial nephritis, Glomerulopathy, Weight loss, Hematuria, Proteinuria, Renal insuffic... |
ORPHA:183 |
Caudal Regression Syndrome |
|
Vesicoureteral reflux, Renal agenesis, Ectopic kidney, Abnormality of the ureter, Renal insuffici... |
ORPHA:3027 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Elevated urinary norepinephrine, Proteinuria |
OMIM:171420 |
Boutonneuse Fever |
|
Renal insufficiency, Increased circulating IgG level, Increased circulating IgM level |
ORPHA:83313 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Goodpasture Syndrome |
|
Glomerular crescent formation, Weight loss, Cylindruria, Glomerulonephritis, Erythrocyte cylindru... |
OMIM:233450 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Abnormal renal glomerulus morpholo... |
OMIM:137940 |
Joubert Syndrome 7 |
|
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:611560 |
Legionnaires Disease |
|
Renal insufficiency, Hematuria, Bone marrow hypocellularity, Proteinuria |
ORPHA:549 |
Nephrolithiasis, Calcium Oxalate |
|
Acute kidney injury, Calcium oxalate nephrolithiasis, Hyperoxaluria, Ureteropelvic junction obstr... |
OMIM:167030 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Proteinuria, Grade II vesicoureteral reflux, Weight loss |
OMIM:619377 |
Paroxysmal Cold Hemoglobinuria |
|
Hemoglobinuria, Abnormal urinary color |
ORPHA:90035 |
Pseudo-Torch Syndrome 1 |
|
Lissencephaly, Failure to thrive, Pachygyria, Renal insufficiency, Polymicrogyria |
OMIM:251290 |
17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Ureterocele, Renal insuffi... |
ORPHA:261265 |
Primary Hyperoxaluria |
|
Elevated urine glycolate, Calcium oxalate nephrolithiasis, Stage 5 chronic kidney disease, Hematu... |
ORPHA:416 |
Aredyld Syndrome |
|
Abnormality of the ureter, Cachexia, Intrauterine growth retardation, Short stature |
ORPHA:1133 |
Variant Abeta2M Amyloidosis |
|
Renal amyloidosis, Chronic kidney disease |
ORPHA:314652 |
Galactosemia |
|
Failure to thrive, Renal insufficiency |
ORPHA:352 |
Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Abnormal tubulointerstitial morphology, Failure to ... |
ORPHA:411629 |
Joubert Syndrome 3 |
|
Nephronophthisis, Frontal polymicrogyria, Stage 5 chronic kidney disease |
OMIM:608629 |
Lamellar Ichthyosis |
|
Renal insufficiency, Short stature |
ORPHA:313 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Multiple small medullary renal cysts, Parathormone-independent increased renal tubular calcium re... |
OMIM:600740 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Hemolytic-uremic syndrome, Rhizomelia, Short stature, Hypospadias, Renal insufficiency, Failure t... |
OMIM:611209 |
Humeroradial Synostosis |
|
Renal insufficiency |
OMIM:236400 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Short stature |
OMIM:613819 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Weight loss |
ORPHA:95626 |
Cockayne Syndrome Type 1 |
|
Increased blood urea nitrogen, Failure to thrive, Proteinuria, Renal insufficiency, Postnatal gro... |
ORPHA:90321 |
Isolated Sedoheptulokinase Deficiency |
|
Abnormal renal tubule morphology, Renal insufficiency, Severe postnatal growth retardation, Short... |
ORPHA:440713 |
Lymphedema-Distichiasis Syndrome |
|
Tubulointerstitial nephritis, Glomerulopathy, Renal duplication, Recurrent urinary tract infectio... |
ORPHA:33001 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Renal insufficiency |
ORPHA:27 |
Enamel-Renal Syndrome |
|
Impaired renal concentrating ability, Nephrocalcinosis, Hypophosphaturia, Nephropathy, Hypocalciu... |
ORPHA:1031 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria |
OMIM:145600 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Abnormality of neuronal migration, Renal dysplasia, Death in infancy, Enlarged kidney, Polycystic... |
OMIM:608836 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Martin-Probst Syndrome |
|
Short stature, Proteinuria, Renal insufficiency, Micropenis, Chordee |
OMIM:300519 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Proteinuria, Hematuria |
OMIM:192315 |
Gaucher Disease Type 1 |
|
Increased circulating antibody level, Hematuria, Delayed puberty, Growth delay, Proteinuria |
ORPHA:77259 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Abnormality of T cell physio... |
ORPHA:2237 |
Severe Acute Respiratory Syndrome |
|
Acute kidney injury |
ORPHA:140896 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Death in childhood, Mild proteinuria |
OMIM:619685 |
Pheochromocytoma |
|
Elevated urinary norepinephrine, Proteinuria, Renal artery stenosis |
OMIM:171300 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Abnormal renal insterstitial morphology, Renal insufficiency |
OMIM:614227 |
Atresia Of Urethra |
|
Vesicoureteral reflux, Renal dysplasia, Bladder fistula, Hydroureter, Recurrent urinary tract inf... |
ORPHA:105 |
Senior-Boichis Syndrome |
|
Abnormal renal insterstitial morphology, Stage 5 chronic kidney disease, Renal corticomedullary c... |
ORPHA:84081 |
Buschke-Ollendorff Syndrome |
|
Renal insufficiency, Short stature |
ORPHA:1306 |
Primary Hyperoxaluria Type 3 |
|
Pollakisuria, Calcium oxalate nephrolithiasis, Dysuria, Abnormality of urine homeostasis, Hematur... |
ORPHA:93600 |
Glycogen Storage Disease Vii |
|
Exercise-induced myoglobinuria |
OMIM:232800 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria |
OMIM:620138 |
Pierson Syndrome |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Hyp... |
OMIM:609049 |
Bartter Syndrome Type 4 |
|
Impaired renal concentrating ability, Acute kidney injury, Stage 5 chronic kidney disease, Small ... |
ORPHA:89938 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
Imerslund-Gräsbeck Syndrome |
|