Nephrotic Syndrome, Type 17 |
|
Focal segmental glomerulosclerosis, Short stature, Stage 5 chronic kidney disease, Steroid-resist... |
OMIM:618176 |
Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... |
OMIM:619201 |
Nephrotic Syndrome, Type 18 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:301028 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:616032 |
Focal Segmental Glomerulosclerosis 7 |
|
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616002 |
Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... |
OMIM:619263 |
Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k... |
OMIM:603965 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Chronic... |
OMIM:614131 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Stage 5 chronic kidney disease, Protei... |
OMIM:613237 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency |
OMIM:607832 |
Nephrotic Syndrome, Type 13 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:616893 |
Nephrotic Syndrome, Type 9 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:615573 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity |
OMIM:611771 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy |
OMIM:182690 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Short stature, Nephrocalcinosis, Proxi... |
OMIM:308990 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... |
OMIM:310468 |
Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:600995 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616220 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephropathy, Glomerulopathy, Proteinuria,... |
OMIM:254900 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Intrauterine growth retardation, Minimal change glomerulonephritis, Nephrotic syndrome, Short sta... |
OMIM:301006 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Galloway-Mowat Syndrome 8 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Protein... |
OMIM:618349 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome |
OMIM:614650 |
Galloway-Mowat Syndrome 4 |
|
Nephrotic syndrome, Short stature, Glomerular sclerosis, Stage 5 chronic kidney disease, Polymicr... |
OMIM:617730 |
Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse m... |
OMIM:610725 |
Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:603278 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Nephropat... |
OMIM:137950 |
Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy |
OMIM:257970 |
Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... |
OMIM:615008 |
Galloway-Mowat Syndrome 5 |
|
Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Pachygyria, Proteinuria |
OMIM:617731 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:614199 |
Nephrotic Syndrome, Type 4 |
|
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Diffuse mesangial scleros... |
OMIM:256370 |
Nephrotic Syndrome, Type 12 |
|
Focal segmental glomerulosclerosis, Hematuria, Stage 5 chronic kidney disease, Steroid-resistant ... |
OMIM:616892 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stage 5 chronic kidne... |
OMIM:619155 |
Nail-Patella-Like Renal Disease |
|
Short stature, Microscopic hematuria, Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:2613 |
Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Tubulointerstitial fibrosis, Proteinuria, Nephrotic syndrome |
OMIM:614196 |
Branchiootorenal Syndrome 2 |
|
Renal dysplasia, Renal insufficiency |
OMIM:610896 |
Hyperprolinemia Type 1 |
|
Prolinuria, Proteinuria, Nephropathy |
ORPHA:419 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Proteinuria, Nephrotic syndrome |
OMIM:617783 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Nephrotic syndrome |
OMIM:614652 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits |
ORPHA:69063 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Nephrotic synd... |
OMIM:617006 |
Nephrotic Syndrome, Type 1 |
|
Renal tubular atrophy, Growth delay, Small for gestational age, Congenital nephrotic syndrome, Gl... |
OMIM:256300 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Proteinuria, Nephropathy, Severe short stature |
ORPHA:2820 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... |
OMIM:613092 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Obesity, Renal cyst, Abnormality of the kidney |
OMIM:615987 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Renal insufficiency, Nephropathy |
OMIM:614227 |
Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome |
OMIM:617609 |
Retinitis Pigmentosa 59 |
|
Failure to thrive, Micropenis, Renal insufficiency, Intrauterine growth retardation |
OMIM:613861 |
Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu... |
OMIM:616818 |
Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:613944 |
Primary Membranoproliferative Glomerulonephritis |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Acute kidney injury, Mic... |
ORPHA:54370 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:136680 |
Proteinuria, Chronic Benign |
|
Albuminuria, Proteinuria |
OMIM:618884 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ... |
OMIM:601894 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Acute kidney injury, Microscopic he... |
ORPHA:567544 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Renal hypoplasia, Short stature, Medullary nephrocalcinosis, Re... |
OMIM:611555 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Intrauterine growth retardation, Short stature, Renal cyst, N... |
OMIM:617056 |
Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hydronephrosis, Decreased specific pneumococcal antibody level, Mesangial ... |
OMIM:613496 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Stage 5 chron... |
ORPHA:656 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Growth delay,... |
ORPHA:567548 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... |
OMIM:616730 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Renal insufficiency |
OMIM:161900 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Renal tubular dysfunction, Intrauterine growth retardation, Failure to thri... |
ORPHA:99885 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Failure to thrive, Stage 5 chronic kidney disease |
OMIM:618250 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... |
OMIM:601331 |
Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
Preeclampsia/Eclampsia 1 |
|
Proteinuria, Intrauterine growth retardation |
OMIM:189800 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Renal insufficiency, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:613779 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:613913 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Renal dysplasia, Renal cyst, Obesity, Renal insufficiency, Abnormality of the kidney |
OMIM:615993 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy |
OMIM:602114 |
C3 Glomerulopathy 3 |
|
Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis |
OMIM:614809 |
Nephrotic Syndrome, Type 8 |
|
Nephrotic syndrome, Thin glomerular basement membrane, Chronic kidney disease, Diffuse mesangial ... |
OMIM:615244 |
Bardet-Biedl Syndrome 18 |
|
Obesity, Renal insufficiency |
OMIM:615995 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:608709 |
C3 Glomerulopathy |
|
Nephrotic syndrome, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellularity, Acute ... |
ORPHA:329918 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Hydronephrosis, Growth delay, Proportionate short stature, Obesity |
OMIM:619269 |
Cystinuria |
|
Ornithinuria, Nephrolithiasis, Cystinuria, Recurrent urinary tract infections, Argininuria, Hyper... |
OMIM:220100 |
Galactosemia I |
|
Aminoaciduria, Increased level of galactitol in urine, Failure to thrive, Albuminuria, Galactosuria |
OMIM:230400 |
Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... |
OMIM:618348 |
Autosomal Dominant Polycystic Kidney Disease |
|
Reduced sperm motility, Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cy... |
ORPHA:730 |
Camos Syndrome |
|
Renal insufficiency, Nephrotic syndrome |
ORPHA:83472 |
Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:161950 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Hematuria, Proteinuria |
ORPHA:2134 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal insufficiency, Glomerulopathy, Prot... |
ORPHA:347 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Nephronophthisis 20 |
|
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:617271 |
Renal Hypoplasia |
|
Urethral valve, Hydronephrosis, Abnormality of the ureter, Small for gestational age, Pelvic kidn... |
ORPHA:93101 |
Complement Factor H Deficiency |
|
Chronic kidney disease, Hematuria, Thickened glomerular basement membrane, Glomerular subendothel... |
OMIM:609814 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Stage 5 chronic kidney disease, Glycos... |
OMIM:614817 |
Urofacial Syndrome 2 |
|
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... |
OMIM:615112 |
Fibronectin Glomerulopathy |
|
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematuria, Glomerulopat... |
ORPHA:84090 |
Nephrotic Syndrome, Type 14 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Micropeni... |
OMIM:617575 |
Alport Syndrome |
|
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... |
ORPHA:63 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Growth delay, Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Proteinuria |
OMIM:619428 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome |
OMIM:249660 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... |
OMIM:174000 |
Nephrosialidosis |
|
Nephropathy, Renal insufficiency, Nephrotic syndrome, Death in childhood |
OMIM:256150 |
Preeclampsia |
|
Intrauterine growth retardation, Small for gestational age, Increased body mass index, Acute kidn... |
ORPHA:275555 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Failure to thrive, Proximal tubulopathy, Weight loss, Aminoaciduria |
OMIM:612075 |
Dent Disease |
|
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... |
ORPHA:1652 |
Cednik Syndrome |
|
Short stature, Nephrotic syndrome, Pachygyria, Polymicrogyria, Proteinuria |
ORPHA:66631 |
Lessel-Kubisch Syndrome |
|
Renal hypoplasia, Renal insufficiency, Short stature |
OMIM:618681 |
Galloway-Mowat Syndrome 3 |
|
Intrauterine growth retardation, Nephrotic syndrome, Short stature, Failure to thrive, Glomerular... |
OMIM:617729 |
Galloway-Mowat Syndrome 10 |
|
Podocyte foot process effacement, Stage 5 chronic kidney disease, Simplified gyral pattern, Diffu... |
OMIM:619609 |
Dent Disease 2 |
|
Short stature, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Chronic ... |
OMIM:300555 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Macroscopic hematuria, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Sta... |
ORPHA:567546 |
Nephrotic Syndrome, Type 21 |
|
Podocyte foot process effacement, Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Recurrent myoglobinuria, Glomerular sclerosis, Nephrotic syndrome |
OMIM:607426 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Nephronophthisis 7 |
|
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:611498 |
Nephronophthisis |
|
Renal insufficiency |
ORPHA:655 |
Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... |
OMIM:615861 |
Adenine Phosphoribosyltransferase Deficiency |
|
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... |
ORPHA:976 |
Lissencephaly, X-Linked, 1 |
|
Death in infancy, Pachygyria, Micropenis, Postnatal growth retardation, Agyria, Gray matter heter... |
OMIM:300067 |
Aapoaiv Amyloidosis |
|
Abnormal renal medulla morphology, Glomerular sclerosis, Renal interstitial amyloid deposits, Par... |
ORPHA:439232 |
Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... |
OMIM:312700 |
Senior-Loken Syndrome 5 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:609254 |
Schimke Immunoosseous Dysplasia |
|
Focal segmental glomerulosclerosis, Intrauterine growth retardation, Nephrotic syndrome, Abnormal... |
OMIM:242900 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Elevated urinary epinephrine, Hematuria, Weight loss, Glomerular sclerosis, Elevated urinary nore... |
ORPHA:276621 |
Amyloidosis, Familial Visceral |
|
Hematuria, Nephropathy, Proteinuria, Nephrotic syndrome |
OMIM:105200 |
Mu-Heavy Chain Disease |
|
Weight loss, Bence Jones Proteinuria, Nephropathy, Increased circulating antibody level |
ORPHA:100024 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Nephrolithiasis |
OMIM:614723 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Microscopic hematuria, Proteinuria |
ORPHA:79087 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Moderate albuminuria, Simplified gyral pattern |
OMIM:614231 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Nephropathy |
ORPHA:1909 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Mucopolysacchariduria, Small for gestational age, Nephrotic syndrome, Decreased circulating IgA l... |
OMIM:215250 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:225 |
Schimke Immuno-Osseous Dysplasia |
|
Focal segmental glomerulosclerosis, Intrauterine growth retardation, Minimal change glomeruloneph... |
ORPHA:1830 |
Pauci-Immune Glomerulonephritis |
|
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Glomer... |
ORPHA:93126 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Proteinuria, Renal insufficiency, Nephropathy |
OMIM:166300 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Increased urinary potassium, Failure to thrive, Decreased glomerular filtration rate, Tubulointer... |
OMIM:602522 |
Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease |
OMIM:617610 |
Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Chronic kidney disease, Increased circulating IgG1 level, Renal int... |
ORPHA:449395 |
Galactose Epimerase Deficiency |
|
Weight loss, Aminoaciduria, Growth delay |
ORPHA:79238 |
Exudative Vitreoretinopathy 3 |
|
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
Aicardi-Goutieres Syndrome 9 |
|
Intrauterine growth retardation, Failure to thrive, Weight loss, Glomerular sclerosis, Stage 5 ch... |
OMIM:619487 |
Bardet-Biedl Syndrome 19 |
|
Obesity, Renal insufficiency |
OMIM:615996 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Proteinuria, Renal insufficiency |
OMIM:245900 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Galloway-Mowat Syndrome 6 |
|
Decreased body weight, Proteinuria, Short stature, Nephrotic syndrome |
OMIM:618347 |
Coach Syndrome 3 |
|
Renal tubular atrophy, Renal interstitial inflammation, Renal interstitial fibrosis, Nephronophth... |
OMIM:619113 |
Xfe Progeroid Syndrome |
|
Cachexia, Proteinuria, Renal insufficiency, Severe short stature |
OMIM:610965 |
Marfanoid Habitus With Microcephaly And Glomerulonephritis |
|
Glomerulonephritis, Renal insufficiency |
OMIM:248760 |
Nephronophthisis 12 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613820 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
Al Amyloidosis |
|
Nephrotic syndrome, Weight loss, Renal interstitial amyloid deposits, Increased circulating antib... |
ORPHA:85443 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... |
OMIM:143400 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Microscopic hematuria, Failure to thrive, Membranoproliferative glomerulone... |
OMIM:619525 |
Denys-Drash Syndrome |
|
Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:220 |
Aa Amyloidosis |
|
Nephrotic syndrome, Acute kidney injury, Nephropathy, Chronic kidney disease, Proteinuria, Abnorm... |
ORPHA:85445 |
Hereditary Renal Hypouricemia |
|
Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, Decreased glome... |
ORPHA:94088 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:2668 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Renal hypoplasia, Rhizomelia, Short stature |
OMIM:617661 |
Acrorenal Syndrome |
|
Renal hypoplasia/aplasia, Renal insufficiency, Abnormal renal morphology |
ORPHA:971 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease, Short stature |
ORPHA:3156 |
Familial Drusen |
|
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... |
ORPHA:75376 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology |
OMIM:609886 |
Thrombotic Thrombocytopenic Purpura |
|
Hematuria, Acute kidney injury, Proteinuria, Renal insufficiency |
ORPHA:54057 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Proteinuria, Abnormal renal tubule morphology, Nephrotic syndrome |
ORPHA:839 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Elevated urinary epinephrine, Renal cell carcinoma, Hematuria, Weight loss, Glomerular sclerosis,... |
ORPHA:29072 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency |
ORPHA:375 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Short stature, Proteinuria, Nephrotic syndrome, Nephropathy |
ORPHA:1192 |
Oligomeganephronia |
|
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Small for gestati... |
ORPHA:2260 |
Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:619603 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Hydronephrosis, Failure to thrive, Albuminuria, Polymicrogyria, Renal cortical micro... |
OMIM:214100 |
Denys-Drash Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropat... |
OMIM:194080 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephritis, Bone ma... |
OMIM:617303 |
Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chron... |
OMIM:203780 |
Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Short stature, Decreased glomerular filtration rate, Nephroli... |
OMIM:232200 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Chronic tubulointerstitial nephritis, Short stature, Rhizomelia, Stage 5 chroni... |
OMIM:614376 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Myoglobinuria |
OMIM:160010 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Hematuria, Nephri... |
OMIM:104200 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricosuria, Renal insufficiency, Acute kidney injury, Uric acid nephrolithiasis, Crystalluri... |
ORPHA:411536 |
Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency |
OMIM:261670 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Short stature, Nephrocalcinosis, Glycosuria, Large for gestational age, Aminoa... |
OMIM:616026 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Proteinuria, Renal insufficiency, Renal amyloidosis |
OMIM:134610 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Growth delay, Short stature, Failure to thrive, Delayed puberty, Proteinuria, Abnormality of the ... |
ORPHA:369 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hydronephrosis, Intrauterine growth retardation, Failure to thrive, Duplicated collecting system,... |
OMIM:617093 |
Glycogen Storage Disease Xi |
|
Myoglobinuria, Renal insufficiency |
OMIM:612933 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria |
OMIM:261100 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Short stature, Lacticaciduria, Glycosuria, Aminoaciduria, Proteinuria,... |
OMIM:134600 |
Hinman Syndrome |
|
Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Renal insuff... |
ORPHA:84085 |
Nephronophthisis-Like Nephropathy 2 |
|
Stage 5 chronic kidney disease, Polyuria, Periglomerular fibrosis, Renal insufficiency, Tubular l... |
OMIM:619468 |
Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Short stature, Decreased glomerular filtration rate, Nephroli... |
OMIM:232220 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Vesicoureteral reflux, Chronic kidney disease, Obesity, Proteinuria, Abnormality ... |
ORPHA:261222 |
Fanconi Renotubular Syndrome 2 |
|
Generalized aminoaciduria, Short stature, Proximal tubulopathy, Glycosuria, Hypercalciuria, Renal... |
OMIM:613388 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Nephritis, Renal insufficiency, Nephropathy |
OMIM:162000 |
Fanconi Renotubular Syndrome 5 |
|
Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Proteinuria |
OMIM:618913 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Growth delay, Short stature, Glycosuria, Aminoaciduria, Proteinuria |
OMIM:615605 |
Amyloidosis, Finnish Type |
|
Renal insufficiency, Nephrotic syndrome |
OMIM:105120 |
Fechtner syndrome |
|
Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:153640 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Short stature, Increased blood urea nitrogen, Membranoproliferative glomer... |
ORPHA:251004 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Glomerular basement membrane lamellation, Failure to thrive, Abnormal renal physiology, Hematuria... |
OMIM:308940 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Growth delay, Abnormal renal physiology, Glomerular sclerosis, Increased blood urea nitrogen |
OMIM:223900 |
Hepatic Veno-Occlusive Disease |
|
Renal insufficiency, Increased body weight |
ORPHA:890 |
Myoglobinuria, Recurrent |
|
Exercise-induced myoglobinuria, Recurrent myoglobinuria |
OMIM:550500 |
Joubert Syndrome 4 |
|
Nephronophthisis, Abnormal renal medulla morphology, Renal insufficiency |
OMIM:609583 |
Alagille Syndrome 2 |
|
Renal hypoplasia, Renal tubular acidosis, Hematuria, Renal cyst, Proteinuria, Renal insufficiency |
OMIM:610205 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Stage 5 chronic kidney disease, Ren... |
ORPHA:228302 |
Dent Disease 1 |
|
Hyperphosphaturia, Aminoaciduria, Short stature, Nephrocalcinosis, Proximal tubulopathy, Nephroli... |
OMIM:300009 |
Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Failure to thrive, Weight loss, Nephrolithiasis, Hypercalciuria, Polyuria |
OMIM:143880 |
Tyrosinemia, Type I |
|
Renal Fanconi syndrome, Nephrocalcinosis, Failure to thrive, Glomerular sclerosis, Renal insuffic... |
OMIM:276700 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Increased blood urea nitrogen,... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Increased blood urea nitrogen,... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Increased blood urea nitrogen,... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Increased blood urea nitrogen,... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Increased blood urea nitrogen,... |
OMIM:612926 |
Nephronophthisis 13 |
|
Renal hypoplasia, Mild proteinuria, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:614377 |
Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency |
ORPHA:254857 |
Jeune Syndrome |
|
Nephronophthisis, Short stature, Renal insufficiency, Nephropathy |
ORPHA:474 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Macroscopic hematuria, Dysuria, Acute kidney injury, Uric acid nephrolithiasis, Nephropathy, Rena... |
ORPHA:79233 |
Lcat Deficiency |
|
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Acute kidney injury, Protei... |
ORPHA:650 |
Nephronophthisis 9 |
|
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
Laurence-Moon Syndrome |
|
Short stature, Displacement of the urethral meatus, Obesity, Hypoplasia of penis, Renal insuffici... |
ORPHA:2377 |
Transcobalamin Deficiency |
|
Methylmalonic aciduria, Decreased circulating IgA level, Decreased circulating IgG level, Decreas... |
ORPHA:859 |
Systemic Sclerosis |
|
Acute kidney injury, Albuminuria, Chronic kidney disease, Glomerulonephritis, Proteinuria, Renal ... |
ORPHA:90291 |
Posterior Urethral Valve |
|
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... |
ORPHA:93110 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:2364 |
Ohdo Syndrome |
|
Proteinuria, Short stature |
OMIM:249620 |
Galloway-Mowat Syndrome 1 |
|
Focal segmental glomerulosclerosis, Intrauterine growth retardation, Nephrotic syndrome, Small fo... |
OMIM:251300 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... |
ORPHA:93108 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Proteinuria, Glomerular sclerosis, Nephropathy |
ORPHA:247691 |
Deafness And Myopia |
|
Hematuria, Proteinuria |
OMIM:221200 |
Thyrocerebrorenal Syndrome |
|
Nephritis, Renal insufficiency |
ORPHA:3327 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Hypospadias, Hydronephrosis, Failure to thrive, Recurrent urinary tract infections, Stage 2 chron... |
OMIM:191800 |
Senior-Loken Syndrome 1 |
|
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease |
OMIM:266900 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Death in infancy, Renal insufficiency, Lacticaciduria |
OMIM:619386 |
Simple Cryoglobulinemia |
|
Nephrotic syndrome, Monoclonal immunoglobulin M proteinemia, Weight loss, Nephritis, Mesangial hy... |
ORPHA:91139 |
Dyschondrosteosis-Nephritis Syndrome |
|
Mesomelic short stature, Intrauterine growth retardation, Short stature, Hematuria, Nephropathy, ... |
ORPHA:1765 |
Syndromic Recessive X-Linked Ichthyosis |
|
Lissencephaly, Renal insufficiency, Short stature, Unilateral renal agenesis |
ORPHA:281090 |
Acrorenal Syndrome, Autosomal Recessive |
|
Decreased numbers of nephrons, Renal hypoplasia, Renal insufficiency |
OMIM:201310 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Moderate albuminuria, Abnormal penis morphology, Hematuria, Dysuria, Acute kidney injury, Renal t... |
ORPHA:95455 |
Nephronophthisis 16 |
|
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney |
OMIM:615382 |
Nephronophthisis 18 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney dis... |
OMIM:615862 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Hematuria, Glomerulonephritis |
OMIM:314000 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Renal insufficiency |
ORPHA:28 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Focal segmental glomerulosclerosis |
OMIM:616239 |
Familial Renal Glucosuria |
|
Moderate postnatal growth retardation, Renal tubular dysfunction, Glycosuria, Recurrent urinary t... |
ORPHA:69076 |
Cystinosis |
|
Renal tubular dysfunction, Short stature, Failure to thrive, Nephropathy, Aminoaciduria, Proteinu... |
ORPHA:213 |
Granulomatous Slack Skin |
|
Acute kidney injury, Nephrocalcinosis |
ORPHA:33111 |
Glycogen Storage Disease Ic |
|
Focal segmental glomerulosclerosis, Hematuria, Decreased glomerular filtration rate, Proteinuria,... |
OMIM:232240 |
Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
Immunodeficiency 91 And Hyperinflammation |
|
Death in infancy, Nephrotic syndrome, Failure to thrive, Death in childhood, Hemolytic-uremic syn... |
OMIM:619644 |
Tubulointerstitial Nephritis With Uveitis |
|
Glomerulonephritis, Reversible renal failure, Acute tubulointerstitial nephritis |
OMIM:607665 |
Hypouricemia, Renal, 1 |
|
Uric acid nephrolithiasis, Acute kidney injury, Renal tubular epithelial necrosis, Increased urin... |
OMIM:220150 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia, Proteinuria, Nephropathy |
ORPHA:2774 |
Attrv30M Amyloidosis |
|
Abnormal renal physiology, Weight loss, Nephropathy |
ORPHA:85447 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Short stature, Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Renal phosphate wasting, ... |
OMIM:300554 |
Myh9-Related Disease |
|
Renal insufficiency, Nephritis, Proteinuria, Nephropathy |
ORPHA:182050 |
Acquired Ichthyosis |
|
Renal insufficiency |
ORPHA:454 |
Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Abnormal renal physiology, Hematuria, Proteinuria |
OMIM:123550 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Myoglobinuria |
OMIM:268200 |
Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Exercise-induced myoglobinuria |
OMIM:300653 |
Senior-Loken Syndrome 4 |
|
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease |
OMIM:606996 |
Papillorenal Syndrome |
|
Horseshoe kidney, Renal hypoplasia, Renal malrotation, Renal cyst, Nephrolithiasis, Stage 5 chron... |
OMIM:120330 |
Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency |
ORPHA:510 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Hypospadias, Hydronephrosis, Failure to thrive in infancy, Intrauterine growth retardation, Rhizo... |
OMIM:611209 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Hematuria, Renal cyst, Nephropathy |
OMIM:611773 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal hypoplasia, Death in infancy, Renal tubular acidosis, Renal dysplasia, Renal cyst, Pachygyr... |
OMIM:614922 |
Glycogen Storage Disease V |
|
Myoglobinuria, Dark urine |
OMIM:232600 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Growth delay, Nephronophthisis, Tubulointerstitial fibrosis, Renal cortico... |
OMIM:256100 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Nephrotic syndrome, Nephrocalcinosis, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Pro... |
OMIM:146255 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Failure to thrive, Chronic kidney disease, Proteinuria, Hyperechogenic kidneys, Renal salt wastin... |
OMIM:613845 |
Hereditary Xanthinuria |
|
Hydronephrosis, Decreased urinary urate, Increased urinary hypoxanthine, Xanthine nephrolithiasis... |
ORPHA:3467 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Myoglobinuria |
OMIM:602199 |
Hyperoxaluria, Primary, Type Ii |
|
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal... |
OMIM:260000 |
Nephrogenic Diabetes Insipidus |
|
Growth delay, Short stature, Failure to thrive, Enuresis nocturna, Functional abnormality of the ... |
ORPHA:223 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss, Hematuria, Nephrolithiasis, Renal insufficiency |
ORPHA:35710 |
Megabladder, Congenital |
|
Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease |
OMIM:618719 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypospadias, Growth delay, Small for gestational age, Failure to thrive, Death in childhood, Mild... |
OMIM:619147 |
Hypervitaminosis A, Susceptibility To |
|
Renal insufficiency |
OMIM:240150 |
Wild Type Attr Amyloidosis |
|
Nephrotic syndrome, Weight loss, Nephropathy, Proteinuria, Renal insufficiency |
ORPHA:330001 |
Liddle Syndrome |
|
Renal insufficiency, Nephropathy |
ORPHA:526 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricosuria, Acute kidney injury, Uric acid nephrolithiasis, Crystalluria, Renal insufficienc... |
ORPHA:411543 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal hypoplasia, Proteinuria, Renal insufficiency, Short stature |
ORPHA:1307 |
Renal Coloboma Syndrome |
|
Renal hypoplasia, Renal dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal ins... |
ORPHA:1475 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight, Long penis |
ORPHA:1672 |
Malaria |
|
Acute kidney injury |
ORPHA:673 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Hydronephrosis, Aplasia of the bladder, Abnormality of the urinary system, Renal dysplasia, Glome... |
ORPHA:158684 |
Rhyns Syndrome |
|
Chronic kidney disease, Nephronophthisis, Renal insufficiency, Short stature |
OMIM:602152 |
Apparent Mineralocorticoid Excess |
|
Intrauterine growth retardation, Short stature, Nephrocalcinosis, Failure to thrive, Abnormal uri... |
ORPHA:320 |
Ochoa Syndrome |
|
Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral reflux, ... |
ORPHA:2704 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Proteinuria, Renal artery stenosis, Nephropathy |
OMIM:209010 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular fil... |
ORPHA:85450 |
Primary Hyperoxaluria Type 2 |
|
Ureteral obstruction, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Recurrent urinary tract i... |
ORPHA:93599 |
Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Intrauterine growth retardat... |
ORPHA:255249 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... |
OMIM:604387 |
Alport Syndrome 1, X-Linked |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephritis, Stage 5 chronic kidney d... |
OMIM:301050 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Short stature |
OMIM:613390 |
Galloway-Mowat Syndrome |
|
Abnormality of neuronal migration, Intrauterine growth retardation, Nephrotic syndrome, Short sta... |
ORPHA:2065 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Intrauterine growth retardation, Small for gestational age, Renal dysplasia, Abnormal renal corti... |
OMIM:616733 |
Prune Belly Syndrome |
|
Abnormality of the ureter, Congenital posterior urethral valve, Failure to thrive, Urogenital sin... |
ORPHA:2970 |
Glycogen Storage Disease, Type Ixd |
|
Exercise-induced myoglobinuria |
OMIM:300559 |
Hypomagnesemia 3, Renal |
|
Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hematuria, Renal calcium wasting, Ne... |
OMIM:248250 |
Hyperuricemia, Hprt-Related |
|
Renal insufficiency, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
Ddost-Cdg |
|
Failure to thrive, Nephrotic range proteinuria, Short stature |
ORPHA:300536 |
Free Sialic Acid Storage Disease |
|
Failure to thrive in infancy, Proteinuria, Nephrotic syndrome |
ORPHA:834 |
Familial Isolated Hyperparathyroidism |
|
Hyperphosphaturia, Hypercalciuria, Renal insufficiency, Nephrocalcinosis |
ORPHA:99879 |
Majeed Syndrome |
|
Cachexia, Failure to thrive, Weight loss, Microscopic hematuria, Glomerulopathy, Proteinuria |
ORPHA:77297 |
Pseudo-Torch Syndrome 3 |
|
Death in infancy, Acute kidney injury, Proteinuria |
OMIM:618886 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Growth delay, Nephronophthisis, Tubulointerstitial fibrosis, Renal cortico... |
OMIM:606966 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chr... |
OMIM:613095 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Acute kidney injury, Myoglobinuria, Growth delay |
ORPHA:57 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... |
OMIM:305390 |
Neuraminidase Deficiency |
|
Proteinuria, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialope... |
OMIM:256550 |
Xanthinuria, Type Ii |
|
Renal insufficiency, Nephrolithiasis |
OMIM:603592 |
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Decreased glomerul... |
OMIM:614748 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Increased circulating antibody level, Proteinuria |
ORPHA:69126 |
Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency |
ORPHA:91138 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Failure to thrive, Glycosur... |
OMIM:220110 |
Diffuse Neonatal Hemangiomatosis |
|
Renal hypoplasia/aplasia, Renal insufficiency |
ORPHA:2123 |
Melas |
|
Focal segmental glomerulosclerosis, Short stature, Failure to thrive, Proximal tubulopathy, Nephr... |
ORPHA:550 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Tubulointerstitial fibrosis, Renal cyst, Polycystic kidney dysplasia, Absence of ... |
OMIM:263200 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Uric acid nephrolithiasis, Hyperuricosuria |
OMIM:300661 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Failure to thrive, Glycosur... |
ORPHA:436271 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:609049 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Mild postnatal growth retardation, Aminoaciduria, Bicarbonate-wasting renal tu... |
ORPHA:47159 |
Muckle-Wells Syndrome |
|
Short stature, Renal insufficiency, Renal amyloidosis |
OMIM:191900 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal tubular dysfunction, Renal insufficiency, Growth delay |
ORPHA:289916 |
Igg4-Related Retroperitoneal Fibrosis |
|
Hydronephrosis, Nephrotic syndrome, Renovascular hypertension, Membranous nephropathy, Hematuria,... |
ORPHA:49041 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomeru... |
ORPHA:488627 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Hypospadias, Nephroblastoma, Nephropathy, Obesity, Renal insufficiency |
OMIM:194072 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Heme Oxygenase 1 Deficiency |
|
Hematuria, Nephritis, Growth delay, Proteinuria |
OMIM:614034 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Short stature |
ORPHA:2715 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Exercise-induced myoglobinuria, Dark urine, Acute kidney injury, Chronic kidney disease, Recurren... |
ORPHA:368 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Renal hypoplasia, Reduced sperm motility, Renal cyst, Nephrolithiasis, Glycosuria, S... |
OMIM:137920 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Postnatal growth retardation, Intrauterine growth retardation, Proteinuria, Multiple bladder dive... |
ORPHA:2728 |
Rhabdoid Tumor |
|
Renal neoplasm, Hematuria, Weight loss |
ORPHA:69077 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Short stature, Nephrocalcinosis, Failure to thrive, Proximal tu... |
ORPHA:18 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Abnormal renal physiology, Hemolytic-uremic syndrome, Microscopic hematuria, Increased blood urea... |
OMIM:274150 |
Renal Agenesis |
|
Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Ureteral agenesis, U... |
ORPHA:411709 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Aminoaciduria, Proteinuria |
OMIM:603585 |
Cystinuria |
|
Hematuria, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
Senior-Loken Syndrome 9 |
|
Nephronophthisis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Obesity |
OMIM:616629 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Decreased glomerular filtration rate, Renal insufficiency, Stage 5 chronic kidney disease |
OMIM:618061 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cystic renal dysplasia, Abnormality of neuronal migration, Myoglobinuria, Tubulointerstitial neph... |
ORPHA:157 |
Juvenile Nephropathic Cystinosis |
|
Renal Fanconi syndrome, Growth delay, Failure to thrive, Proximal tubulopathy, Stage 5 chronic ki... |
ORPHA:411634 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss, Nocturia |
ORPHA:178029 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Hydroureter, Postnatal growth retardation, Nephrolithiasis, Vesicoureteral reflux |
OMIM:617219 |
Primary Fanconi Renotubular Syndrome |
|
Generalized aminoaciduria, Renal sodium wasting, Bicarbonate-wasting renal tubular acidosis, Incr... |
ORPHA:3337 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
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Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
Wilson Disease |
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Hyperphosphaturia, Renal tubular dysfunction, Aminoaciduria, Nephrolithiasis, Glycosuria, Hyperca... |
OMIM:277900 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Nephrotic syndrome, Membranous nephropathy, Reduced natural killer cell activity, Stage 5 chronic... |
OMIM:615559 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria, Short stature, Cachexia, Methylmalonic aciduria |
ORPHA:1933 |
Becker Muscular Dystrophy |
|
Myoglobinuria, Abnormal urinary color |
ORPHA:98895 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
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Polycystic kidney dysplasia, Renal insufficiency |
OMIM:173900 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:713 |
Non-Functioning Paraganglioma |
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Elevated urinary epinephrine, Weight loss, Hematuria, Elevated urinary norepinephrine, Elevated u... |
ORPHA:94080 |
Nephronophthisis 2 |
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Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... |
OMIM:602088 |
Nephroblastoma |
|
Weight loss, Hematuria, Nephroblastoma |
ORPHA:654 |
Alg1-Cdg |
|
Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome |
ORPHA:79327 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
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Renal hypoplasia, Short stature, Renal dysplasia, Hypoplasia of penis, Renal insufficiency |
ORPHA:85321 |
Biliary Malformation With Renal Tubular Insufficiency |
|
Generalized aminoaciduria, Renal tubular dysfunction, Failure to thrive, Glycosuria, Aminoaciduri... |
OMIM:210550 |
Diffuse Alveolar Hemorrhage |
|
Weight loss, Hematuria, Proteinuria |
ORPHA:90060 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
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Hypospadias, Intrauterine growth retardation, Micropenis, Postnatal growth retardation, Hypercalc... |
OMIM:614732 |
Genetic Recurrent Myoglobinuria |
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Exercise-induced myoglobinuria, Dark urine, Acute kidney injury, Oliguria, Renal insufficiency, R... |
ORPHA:99845 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency |
ORPHA:3222 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Cystathioninuria, Methylmalonic aciduria, Failure to thrive, Hematuria, Homocystinuria, Hemolytic... |
OMIM:277400 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary vanillylmandelic acid, Failure to thrive, Weight loss, Elevated urinary catechol... |
OMIM:256700 |
Alagille Syndrome 1 |
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Renal hypoplasia, Focal segmental glomerulosclerosis, Failure to thrive, Renal tubular acidosis, ... |
OMIM:118450 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Renal insufficiency |
ORPHA:79312 |
Pseudo-Torch Syndrome 1 |
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Failure to thrive, Pachygyria, Polymicrogyria, Lissencephaly, Renal insufficiency |
OMIM:251290 |
3-Methylglutaconic Aciduria Type 7 |
|
Growth delay, Nephrocalcinosis, Renal cyst, Bone marrow hypocellularity, 3-Methylglutaconic acidu... |
ORPHA:445038 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Short stature, Renal dysplasia, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Nep... |
OMIM:266920 |
Hyperprolinemia Type 2 |
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Prolinuria, Hydroxyprolinuria, Renal insufficiency, Increased urine alpha-ketoglutarate concentra... |
ORPHA:79101 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
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Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Recurrent urinary tract infections, Chr... |
OMIM:248190 |
Complement Factor I Deficiency |
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Recurrent urinary tract infections, Glomerulonephritis, Pyelonephritis, Renal insufficiency |
OMIM:610984 |
Bardet-Biedl Syndrome 9 |
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Obesity, Renal insufficiency, Truncal obesity |
OMIM:615986 |
Congenital Disorder Of Glycosylation, Type Ia |
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Nephrotic syndrome, Decreased circulating IgA level, Proximal tubulopathy, Decreased circulating ... |
OMIM:212065 |
Fabry Disease |
|
Lipiduria, Urinary mulberry cells, Proteinuria, Renal insufficiency, Delayed puberty |
OMIM:301500 |
Renal Hypodysplasia/Aplasia 1 |
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Renal dysplasia, Renal agenesis, Proteinuria |
OMIM:191830 |
Ventriculomegaly With Cystic Kidney Disease |
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Renal insufficiency, Gray matter heterotopia, Renal corticomedullary cysts |
OMIM:219730 |
Babesiosis |
|
Renal insufficiency |
ORPHA:108 |
Medullary cystic kidney disease 2 |
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Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... |
OMIM:603860 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
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Chronic kidney disease, Nephronophthisis, Short stature, Obesity |
OMIM:615630 |
Gitelman Syndrome |
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Renal Fanconi syndrome, Focal segmental glomerulosclerosis, Tubulointerstitial nephritis, Failure... |
ORPHA:358 |
Hyperinsulinism Due To Hnf4A Deficiency |
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Renal Fanconi syndrome, Glycosuria, Large for gestational age, Proteinuria, Increased body weight |
ORPHA:263455 |
Primary Hyperoxaluria Type 1 |
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Hyperoxaluria, Nephrocalcinosis, Failure to thrive, Hematuria, Decreased glomerular filtration ra... |
ORPHA:93598 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Short stature, Renal insufficiency, Nephropathy |
OMIM:247410 |
Birk-Landau-Perez Syndrome |
|
Hyperechogenic kidneys, Tubulointerstitial nephritis, Renal insufficiency |
OMIM:617595 |
Renal Nutcracker Syndrome |
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Hematuria, Weight loss, Microscopic hematuria, Proteinuria, Renal artery stenosis |
ORPHA:71273 |
Yao Syndrome |
|
Weight loss, Nephrolithiasis |
OMIM:617321 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Growth delay, Myoglobinuria, Dicarboxylic aciduria |
OMIM:231530 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cystic renal dysplasia, Abnormality of neuronal migration, Myoglobinuria, Tubulointerstitial neph... |
ORPHA:228308 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
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Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria |
ORPHA:284426 |
Hypomagnesemia 2, Renal |
|
Hypocalciuria, Renal insufficiency, Renal magnesium wasting |
OMIM:154020 |
Hypocomplementemic Urticarial Vasculitis |
|
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency |
ORPHA:36412 |
Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency |
ORPHA:86818 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Exercise-induced myoglobinuria |
ORPHA:352479 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Increased urinary potassium, Failure to thrive, Decreased glomerular filtration rate, Renal insuf... |
OMIM:613090 |
Igg4-Related Aortitis |
|
Hydronephrosis, Weight loss, Increased circulating IgG4 level, Increased circulating IgE level, I... |
ORPHA:449400 |
Nephronophthisis 11 |
|
Renal tubular atrophy, Growth delay, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chro... |
OMIM:613550 |
Bor Syndrome |
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Hydronephrosis, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junction ob... |
ORPHA:107 |
Donnai-Barrow Syndrome |
|
Proteinuria |
ORPHA:2143 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Weight loss, Oliguria, Abnormal renal tubule morphology |
ORPHA:188 |
3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Intrauterine growth retardation, Glutaric aciduria, Postnatal growth retardation, 3-... |
OMIM:610198 |
Holocarboxylase Synthetase Deficiency |
|
Growth delay, Weight loss, Organic aciduria |
ORPHA:79242 |
Spinocerebellar Ataxia 48 |
|
Urinary incontinence, Cachexia |
OMIM:618093 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Hematuria, Weight loss, Stage 5 chronic kidney disease, Nephropathy, Chronic k... |
ORPHA:1018 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Horseshoe kidney, Renal hypoplasia, Renal agenesis, Growth delay, Renal dysplasia, Bifid ureter, ... |
OMIM:617641 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Focal segmental glomerulosclerosis, Short stature, Postnatal growth retardation, Death in childho... |
OMIM:619127 |
Pediatric Systemic Lupus Erythematosus |
|
Nephrotic syndrome, Abnormality of the urinary system, Hematuria, Nephritis, Dark urine, Proteinu... |
ORPHA:93552 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Chronic kidney disease, Abnormal renal glomerulus morphology, Renal insufficiency, Membranoprolif... |
OMIM:137940 |
Nail-Patella Syndrome |
|
Nephrotic syndrome, Short stature, Hematuria, Glomerulonephritis, Proteinuria, Renal insufficiency |
OMIM:161200 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria |
ORPHA:119 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Tubulointerstitial nephritis, Hematuria, Weight loss, Glomerulopathy, Proteinuria, Renal insuffic... |
ORPHA:183 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Short stature, Nephritis, Renal cyst, Chronic kidney disease, Proteinuria, Rena... |
OMIM:208500 |
Dahlberg-Borer-Newcomer Syndrome |
|
Short stature, Renal insufficiency, Nephropathy |
ORPHA:1563 |
Renal Tubular Acidosis, Distal, 1 |
|
Renal tubular acidosis, Postnatal growth retardation, Nephrocalcinosis |
OMIM:179800 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Elevated urinary norepinephrine |
OMIM:171420 |
Senior-Loken Syndrome 3 |
|
Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Enuresis, Polyuria |
OMIM:606995 |
Isolated Succinate-Coq Reductase Deficiency |
|
Intrauterine growth retardation, Weight loss, Proportionate short stature, Severe short stature, ... |
ORPHA:3208 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
Caudal Regression Sequence |
|
Ureteral duplication, Abnormality of the ureter, Renal agenesis, Vesicoureteral reflux, Ectopic k... |
ORPHA:3027 |
Boutonneuse Fever |
|
Increased circulating IgM level, Renal insufficiency, Increased circulating IgG level |
ORPHA:83313 |
Amelogenesis Imperfecta, Type Ig |
|
Nephrocalcinosis, Impaired renal concentrating ability, Enuresis, Polyuria, Renal insufficiency |
OMIM:204690 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Grade II vesicoureteral reflux, Weight loss, Proteinuria |
OMIM:619377 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Ureteropelvic junction obstruction, Stage 5 chronic kidney disease, Vesicoureteral reflux |
OMIM:610805 |
Nephrolithiasis, Calcium Oxalate |
|
Hyperoxaluria, Acute kidney injury, Ureteropelvic junction obstruction, Calcium oxalate nephrolit... |
OMIM:167030 |
Goodpasture Syndrome |
|
Macroscopic hematuria, Weight loss, Cylindruria, Increased blood urea nitrogen, Erythrocyte cylin... |
OMIM:233450 |
Legionnaires Disease |
|
Hematuria, Proteinuria, Renal insufficiency, Bone marrow hypocellularity |
ORPHA:549 |
Galactosemia |
|
Failure to thrive, Renal insufficiency |
ORPHA:352 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Paroxysmal Cold Hemoglobinuria |
|
Hemoglobinuria, Abnormal urinary color |
ORPHA:90035 |
Primary Hyperoxaluria |
|
Nephrocalcinosis, Hyperoxaluria, Calcium oxalate nephrolithiasis, Hematuria, Failure to thrive, A... |
ORPHA:416 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Obesity, Rhizomelia, Stage 1 chronic kidney disease |
OMIM:618821 |
Nephronophthisis 19 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:616217 |
Carcinoma Of Esophagus |
|
Obesity, Weight loss |
ORPHA:70482 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Growth delay, Failure to th... |
ORPHA:411629 |
Nephropathy, Deafness, And Hyperparathyroidism |
|
Renal insufficiency, Nephropathy |
OMIM:256120 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Multiple small medullary renal cysts, Parathormone-independent increased renal tubular calcium re... |
OMIM:600740 |
Acquired Central Diabetes Insipidus |
|
Weight loss, Pollakisuria |
ORPHA:95626 |
Variant Abeta2M Amyloidosis |
|
Chronic kidney disease, Renal amyloidosis |
ORPHA:314652 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hematuria, Proteinuria |
OMIM:192315 |
Martin-Probst Syndrome |
|
Short stature, Chordee, Micropenis, Proteinuria, Renal insufficiency |
OMIM:300519 |
Lymphedema-Distichiasis Syndrome |
|
Tubulointerstitial nephritis, Renal duplication, Recurrent urinary tract infections, Glomerulopat... |
ORPHA:33001 |
Cranioectodermal Dysplasia 4 |
|
Short stature, Bone marrow hypocellularity, Stage 5 chronic kidney disease, Nephropathy |
OMIM:614378 |
Lamellar Ichthyosis |
|
Renal insufficiency, Short stature |
ORPHA:313 |
Aredyld Syndrome |
|
Cachexia, Abnormality of the ureter, Intrauterine growth retardation, Short stature |
ORPHA:1133 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Renal insufficiency |
ORPHA:27 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Hypospadias, Intrauterine growth retardation, Chordee, Renal dysplasia, Postnatal growth retardat... |
ORPHA:96179 |
Cystinosis, Nephropathic |
|
Renal Fanconi syndrome, Failure to thrive in infancy, Generalized aminoaciduria, Growth delay, Sh... |
OMIM:219800 |
Humeroradial Synostosis |
|
Renal insufficiency |
OMIM:236400 |
Cockayne Syndrome Type 1 |
|
Failure to thrive, Postnatal growth retardation, Increased blood urea nitrogen, Proteinuria, Rena... |
ORPHA:90321 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria |
OMIM:145600 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hydronephrosis, Severe postnatal growth retardation, Renal dysplasia, Unilateral renal agenesis, ... |
ORPHA:2237 |
Brachymesomelia-Renal Syndrome |
|
Renal insufficiency |
OMIM:113470 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Abnormality of neuronal migration, Ureteral duplication, Hydronephrosis, Polycystic kidney dyspla... |
OMIM:608836 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Joubert Syndrome 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:608629 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Nephritis, Stage 5 chronic kidney disease |
OMIM:609057 |
Gaucher Disease Type 1 |
|
Growth delay, Hematuria, Increased circulating antibody level, Proteinuria, Delayed puberty |
ORPHA:77259 |
Severe Acute Respiratory Syndrome |
|
Acute kidney injury |
ORPHA:140896 |
Atresia Of Urethra |
|
Patent urachus, Hydronephrosis, Renal dysplasia, Megacystis, Bladder fistula, Recurrent urinary t... |
ORPHA:105 |
Senior-Boichis Syndrome |
|
Renal hypoplasia, Abnormal renal insterstitial morphology, Thickening of the tubular basement mem... |
ORPHA:84081 |
Primary Hyperoxaluria Type 3 |
|
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... |
ORPHA:93600 |
Enamel-Renal Syndrome |
|
Nephrocalcinosis, Hypophosphaturia, Hypocalciuria, Impaired renal concentrating ability, Nephropa... |
ORPHA:1031 |
17Q12 Microdeletion Syndrome |
|
Short stature, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Ureterocele, Renal insuffi... |
ORPHA:261265 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Buschke-Ollendorff Syndrome |
|
Renal insufficiency, Short stature |
ORPHA:1306 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss, Proteinuria |
ORPHA:35858 |
Pheochromocytoma |
|
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine |
OMIM:171300 |
Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Abnormal renal tubule morphology, Severe postnatal growth retardation, Short... |
ORPHA:440713 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Renal insufficiency |
ORPHA:2165 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |