| Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:614196 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Hyperuricemia, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Foca... |
OMIM:613092 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... |
OMIM:310468 |
| Lipoprotein Glomerulopathy |
|
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria |
OMIM:611771 |
| Proteinuria, Chronic Benign |
|
Renal insufficiency, Proteinuria, Albuminuria |
OMIM:618884 |
| Focal Segmental Glomerulosclerosis 8 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616032 |
| 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 |
| Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... |
OMIM:619201 |
| Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Hyperprolinemia, Proteinuria |
ORPHA:419 |
| Focal Segmental Glomerulosclerosis 2 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Hypertension, Proteinuria, Focal segmental gl... |
OMIM:603965 |
| Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... |
OMIM:616002 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:601894 |
| Nephrotic Syndrome, Type 17 |
|
Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... |
OMIM:618176 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Stage 5 chronic kidney disease, Proteinuria, Nephrotic syndrome |
OMIM:614199 |
| Focal Segmental Glomerulosclerosis 10 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... |
OMIM:256020 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Hyperten... |
OMIM:137950 |
| Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:617783 |
| Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:614131 |
| Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
| Focal Segmental Glomerulosclerosis 5 |
|
Stage 5 chronic kidney disease, Hypertension, Proteinuria, Focal segmental glomerulosclerosis, Mi... |
OMIM:613237 |
| Severe Primary Trimethylaminuria |
|
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity |
ORPHA:468726 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Hypertension, Proteinuria, Renal insufficiency, Focal segmental glomerulosclerosis |
OMIM:607832 |
| Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
| Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Hypertension, Proteinuria, Microscopic hematuria |
ORPHA:2613 |
| Nephrotic Syndrome, Type 9 |
|
Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy... |
OMIM:615573 |
| Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Hypertension, Mesang... |
OMIM:616818 |
| Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Steroid-resistant... |
OMIM:617609 |
| Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephri... |
OMIM:613944 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic-uremic syndrome, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney diseas... |
OMIM:615008 |
| Nephrotic Syndrome, Type 2 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental ... |
OMIM:600995 |
| Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
| Nephronophthisis 1 |
|
Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst... |
OMIM:256100 |
| Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Hypoph... |
OMIM:618913 |
| Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Nephritis, Elevated circulatin... |
OMIM:161900 |
| Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Abnormal tubulointerstitial morphology, Nephropathy, Chronic kidney disease |
OMIM:602114 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Hypotension, Hyperuricemia, Stage 5 chronic ... |
OMIM:174000 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... |
OMIM:601376 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Hypertension, Proteinuria |
ORPHA:2820 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... |
OMIM:118651 |
| Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney disease, Mic... |
ORPHA:54370 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Hyperuricemia, Nephritis, Nephropathy, Decreased glomerular filtration rat... |
OMIM:162000 |
| Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Podocyte foot process effacement, Focal segmental glomeruloscle... |
OMIM:619263 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level, Abnorma... |
ORPHA:2843 |
| Intellectual Developmental Disorder, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
| Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate |
OMIM:242530 |
| Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Foc... |
OMIM:610725 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr... |
OMIM:614650 |
| Focal Segmental Glomerulosclerosis 1 |
|
Stage 5 chronic kidney disease, Hypertension, Hyperlipidemia, Proteinuria, Focal segmental glomer... |
OMIM:603278 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... |
OMIM:308990 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Nephrotic syndrome |
OMIM:617006 |
| Hereditary Renal Hypouricemia |
|
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... |
ORPHA:94088 |
| Nephronophthisis 4 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... |
OMIM:606966 |
| Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephri... |
OMIM:161950 |
| Nephronophthisis 3 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... |
OMIM:604387 |
| Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Cerebral hemorrhage, Nephrotic syndrome, Hypertension, Abnor... |
ORPHA:84090 |
| Acromesomelic Dysplasia 2C |
|
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... |
OMIM:201250 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
| Lcat Deficiency |
|
Renal insufficiency, Acute kidney injury, Stage 5 chronic kidney disease, Decreased glomerular fi... |
ORPHA:650 |
| Obsessive-Compulsive Disorder |
|
Skin-picking, Depression, Anxiety |
OMIM:164230 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome |
OMIM:613913 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing |
OMIM:246570 |
| Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Abnormal renal tubule morphology, Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrot... |
ORPHA:839 |
| Nephrotic Syndrome, Type 26 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:620049 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
| Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... |
OMIM:200700 |
| Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Thickening of the tubular b... |
OMIM:266900 |
| Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Proteinuria, Hematuria |
ORPHA:2134 |
| Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp... |
OMIM:112910 |
| Nephrotic Syndrome, Type 22 |
|
Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr... |
OMIM:619155 |
| Dent Disease |
|
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... |
ORPHA:1652 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Hypertension, Decreased glomerular f... |
OMIM:618061 |
| Lethal Faciocardiomelic Dysplasia |
|
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... |
ORPHA:1972 |
| Nephrotic Syndrome, Type 13 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:616893 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria, Hypertension |
OMIM:189800 |
| Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
| Alport Syndrome |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Glomerular basement membrane lamellation... |
ORPHA:63 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Decreased glomerular filtratio... |
OMIM:601198 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... |
ORPHA:730 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Nephrotic syndrome, Hematuria, Membranoproliferative gl... |
OMIM:608709 |
| Polycystic Kidney Disease 7 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Hypertension, Renal atrophy, Multipl... |
OMIM:620056 |
| Galloway-Mowat Syndrome 8 |
|
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:618349 |
| Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Proximal tubulopathy, Glycosuria, Hypophosphatemia, Generalized aminoaci... |
OMIM:613388 |
| Galactosemia I |
|
Aminoaciduria, Increased level of galactonate in red blood cells, Hypergalactosemia, Increased le... |
OMIM:230400 |
| Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Decreased glomerular filtration rate |
OMIM:618182 |
| Focal Segmental Glomerulosclerosis 9 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis |
OMIM:616220 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Acute kidney injury, Hypertension, Glomerulonephritis, Glomerular C3 depositi... |
ORPHA:567544 |
| Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Renal insufficiency, Myoglobinuria |
OMIM:255110 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Elevated circula... |
OMIM:614455 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
| Langer Mesomelic Dysplasia |
|
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... |
OMIM:249700 |
| Nephronophthisis 13 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glomerular subepithelial immune-comp... |
OMIM:614377 |
| Denys-Drash Syndrome |
|
Nephroblastoma, Nephrotic syndrome, Hypertension, Nephropathy, Proteinuria |
ORPHA:220 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Ren... |
ORPHA:85450 |
| Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Nephropathy, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis |
OMIM:182690 |
| Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:160010 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... |
OMIM:611555 |
| Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... |
OMIM:200500 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Hypoalbuminemia, Nephrotic syndrome |
OMIM:614652 |
| Nephrotic Syndrome, Type 8 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Thin glomerular ... |
OMIM:615244 |
| Glycogen Storage Disease X |
|
Renal insufficiency, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:261670 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Impaired renal concentrating ability, Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchlor... |
OMIM:602522 |
| Glycogen Storage Disease Xi |
|
Renal insufficiency, Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kinas... |
OMIM:612933 |
| Frasier Syndrome |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:136680 |
| Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Steroid-resistant nephrotic ... |
OMIM:615861 |
| Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
| Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hematuria, Hypertension, Nephropathy, Proteinuria |
OMIM:105200 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Proteinuria |
OMIM:245900 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Tubulointerstitial fibrosis |
OMIM:263000 |
| Renal Hypoplasia, Bilateral |
|
Vesicoureteral reflux, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria, Hyperkalemia,... |
ORPHA:97362 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits |
ORPHA:69063 |
| Oligomeganephronia |
|
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... |
ORPHA:2260 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... |
ORPHA:976 |
| Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:612551 |
| Leri-Weill Dyschondrosteosis |
|
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... |
OMIM:127300 |
| C3 Glomerulopathy |
|
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... |
ORPHA:329918 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal pelvic girdle bone morphol... |
ORPHA:1802 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Pulmonary embolism, Stage 5 chronic kidney disease, Microscopic hematuria, Minimal change glomeru... |
ORPHA:567546 |
| Renal Hypoplasia |
|
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... |
ORPHA:93101 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Hypovolemia, Ketonuria, Glycosuria, Moderate albuminuria, Abnormality of the upper urinary tract,... |
ORPHA:99885 |
| Eiken Syndrome |
|
Short phalanx of finger, Thin bony cortex, Broad foot, Short toe, Abnormal bone ossification, Met... |
ORPHA:79106 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Hypercalcemia |
ORPHA:2668 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Short tibia, Abnormal foot morphology, Hip dislocation, Talipes equinovalgus, Dislocated radial h... |
OMIM:605274 |
| Primary Hyperoxaluria Type 1 |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Dysuria, Nephrocalcinosis, Ca... |
ORPHA:93598 |
| Hypouricemia, Renal, 1 |
|
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... |
OMIM:220150 |
| Dent Disease 2 |
|
Aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatine kinase conce... |
OMIM:300555 |
| C3 Glomerulopathy 3 |
|
Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... |
OMIM:614809 |
| Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
| Nephrotic Syndrome, Type 21 |
|
Stage 5 chronic kidney disease, Podocyte foot process effacement, Steroid-resistant nephrotic syn... |
OMIM:618594 |
| Nephrotic Syndrome, Type 12 |
|
Stage 5 chronic kidney disease, Hematuria, Diffuse mesangial sclerosis, Steroid-resistant nephrot... |
OMIM:616892 |
| Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Abnormal circulating lipid concentration, Congestive heart failure, Hypertension,... |
ORPHA:225 |
| Galloway-Mowat Syndrome 5 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:617731 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Foamy urine, Diffuse mesangial... |
ORPHA:656 |
| Nephronophthisis 7 |
|
Nephronophthisis, Renal tubular atrophy, Stage 5 chronic kidney disease |
OMIM:611498 |
| Nephrotic Syndrome, Type 4 |
|
Nephroblastoma, Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency, Focal segme... |
OMIM:256370 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Pulmonary embolism, Abnormal circulating lipid concentration, Hypertriglyceridemia, Abnormal urin... |
ORPHA:567548 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... |
ORPHA:240 |
| Cryoglobulinemia, Familial Mixed |
|
Hematuria, Hypertension, Abnormal renal physiology, Elevated circulating creatinine concentration... |
OMIM:123550 |
| Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:616730 |
| Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Renal insufficiency, Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kinas... |
ORPHA:2364 |
| Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Tubulointerstitial nephritis, Pulmonary hemorrhage, Small vessel vas... |
ORPHA:93126 |
| Blount Disease |
|
Tibial bowing, Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal ti... |
ORPHA:2768 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Hydronephrosis |
OMIM:619269 |
| Nephrotic Syndrome, Type 1 |
|
Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Hypoproteinemia, Diff... |
OMIM:256300 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... |
OMIM:601331 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Enlarged kidney, Polycystic kidney dysplasia, Hypertension,... |
OMIM:263200 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchloriduria, Increased urinary potassium, H... |
OMIM:613090 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Stage 5 chronic k... |
ORPHA:228302 |
| Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Microscopic hematuria |
ORPHA:79087 |
| Geniospasm 1 |
|
Anxiety |
OMIM:190100 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... |
OMIM:135750 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria, Microscopic hematuria |
OMIM:261100 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Renal amyloidosis, Renal insufficiency, Proteinuria |
OMIM:134610 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:301006 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Thin bony cortex, Generalized bone demineralization, Genu valgum, Metaphyseal irregularity, Genu ... |
OMIM:600785 |
| Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:203780 |
| Oculorenocerebellar Syndrome |
|
Nephropathy, Glomerular sclerosis |
OMIM:257970 |
| Caffey Disease |
|
Bowing of the legs, Cortical irregularity, Subperiosteal bone formation, Calvarial hyperostosis, ... |
OMIM:114000 |
| Preeclampsia |
|
Acute kidney injury, Abnormality of the kidney, Elevated systolic blood pressure, Hypertension, E... |
ORPHA:275555 |
| Dyschondrosteosis And Nephritis |
|
Short tibia, Radial bowing, Ulnar bowing, Short forearm |
OMIM:127350 |
| Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Hematuria, Decreased serum creatinine, Myocardial infarction, Proteinuria, A... |
ORPHA:54057 |
| Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Abnormal renal tubule morphology, Renal insufficiency, Hyperuricemia, Multiple glomerular cysts |
OMIM:609886 |
| Glycogen Storage Disease Iv |
|
Portal hypertension, Tubulointerstitial fibrosis, Cardiomyopathy |
OMIM:232500 |
| Al Amyloidosis |
|
Reduced left ventricular ejection fraction, Nephrotic syndrome, Renal interstitial amyloid deposi... |
ORPHA:85443 |
| Distal Osteosclerosis |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis |
OMIM:126250 |
| Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... |
OMIM:619217 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria, Increased serum bile acid concentration, Hyperbilirubinemia, Conjugated hyperbilirub... |
OMIM:620010 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Tibial bowing, Cortical thickening of long bone diaphyses, Femora... |
OMIM:166740 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria... |
OMIM:612925 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
| Galloway-Mowat Syndrome 10 |
|
Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial sclerosis, Pr... |
OMIM:619609 |
| Cystinuria |
|
Hyperlysinuria, Recurrent urinary tract infections, Ornithinuria, Cystinuria, Argininuria, Renal ... |
OMIM:220100 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Hypertension, Increased blood ... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Hypertension, Increased blood ... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Hypertension, Increased blood ... |
OMIM:612926 |
| Frasier Syndrome |
|
Nephroblastoma, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Hypertension, Proteinuri... |
ORPHA:347 |
| Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Hypertension, Increased blood ... |
OMIM:612924 |
| Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Azo... |
OMIM:104200 |
| Galloway-Mowat Syndrome 4 |
|
Congenital nephrotic syndrome, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesang... |
OMIM:617730 |
| Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency, Vasculitis |
ORPHA:375 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... |
ORPHA:988 |
| Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome |
OMIM:249660 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly |
OMIM:228250 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Epiphyseal stippling, Short humerus, Rhizomelia, Short femur |
OMIM:600121 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... |
ORPHA:85188 |
| Glycogen Storage Disease V |
|
Myoglobinuria, Dark urine, Hyperuricemia, Elevated circulating creatine kinase concentration |
OMIM:232600 |
| Weismann-Netter Syndrome |
|
Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral bowing, Abn... |
ORPHA:3344 |
| Glycogen Storage Disease Ia |
|
Hyperuricemia, Enlarged kidney, Hypertension, Decreased glomerular filtration rate, Hyperlipidemi... |
OMIM:232200 |
| Cednik Syndrome |
|
Proteinuria, Congestive heart failure, Nephrotic syndrome |
ORPHA:66631 |
| Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Abnormal renal... |
ORPHA:439232 |
| Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
| Aa Amyloidosis |
|
Hypotension, Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney,... |
ORPHA:85445 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate, Proteinur... |
ORPHA:488627 |
| Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot process e... |
OMIM:617575 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Camp... |
OMIM:612576 |
| Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Renal tubular dysfun... |
OMIM:134600 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Short lower limbs, Tibial bowing, Femoral bowing, Flared me... |
ORPHA:93356 |
| Galloway-Mowat Syndrome 6 |
|
Proteinuria, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndrome |
OMIM:618347 |
| Arima Syndrome |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal sodium wasting, Polycystic kidney dy... |
OMIM:243910 |
| Xanthinuria, Type Ii |
|
Hyperxanthinemia, Increased urinary hypoxanthine, Hypouricemia, Xanthinuria, Renal insufficiency,... |
OMIM:603592 |
| Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Mesomelic leg shortening, Micrognathia, Metatarsal synostosis, Oligodacty... |
ORPHA:2756 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Hypertension, Proteinuria, Nephrotic syndrome |
ORPHA:1192 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Proteinuria, Mucopolysacchariduria, Nephrotic syndrome |
OMIM:215250 |
| Alagille Syndrome 2 |
|
Renal insufficiency, Renal tubular acidosis, Hematuria, Hypertension, Renal cyst, Renal hypoplasi... |
OMIM:610205 |
| Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Nephritis, Myocardial infarction, Nephropathy, Proteinuria, Ren... |
ORPHA:182050 |
| Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:618348 |
| Nephronophthisis 20 |
|
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... |
OMIM:617271 |
| Myoglobinuria, Recurrent |
|
Exercise-induced myoglobinuria, Recurrent myoglobinuria |
OMIM:550500 |
| Systemic Sclerosis |
|
Pulmonary arterial hypertension, Gastrointestinal telangiectasia, Telangiectasia, Nail bed telang... |
ORPHA:90291 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Stage 5 chronic kidney disease, Hypertension, Proteinuria, Renal insufficiency, Bilateral renal a... |
OMIM:166300 |
| Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Renal artery stenosis, Proteinuria |
OMIM:209010 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hypermagnesiuria, Hyperphosphaturia, Hypokal... |
ORPHA:18 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
| Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Moderate albuminuria |
OMIM:614231 |
| Glycogen Storage Disease Ib |
|
Hyperuricemia, Enlarged kidney, Hypertension, Decreased glomerular filtration rate, Hyperlipidemi... |
OMIM:232220 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Hand monodactyly, Absent tibia, Short hallux, Split foot, Split hand, Aplasia o... |
OMIM:119100 |
| Glycogen Storage Disease Ic |
|
Pulmonary arterial hypertension, Spider hemangioma, Hyperuricemia, Hematuria, Hypertension, Decre... |
OMIM:232240 |
| Idiopathic Hypercalciuria |
|
Abnormal circulating calcium concentration, Calcium oxalate nephrolithiasis, Parathormone-indepen... |
ORPHA:2197 |
| Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, Syndactyly |
OMIM:300484 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Acute tubulointerstitial nephritis, Shock, Glomerulonephritis, Palpitations, Oliguri... |
ORPHA:340 |
| Acromesomelic Dysplasia 2B |
|
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Patellar dislocation, Rhizo... |
OMIM:228900 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Low-molecular-weight proteinuria, Elevated circulat... |
OMIM:615605 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Vesicoureteral reflux, Hyperuricemia, Abnormality of the kidney, Renal agenesis, Proteinuria, Chr... |
ORPHA:261222 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Acute kidney injury, Exercise-induced myoglobinuria, Highly elevated creatine kinase, Elevated ci... |
ORPHA:368 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Membranoproliferative glomerulonephritis, Microscopic hematuria |
OMIM:619525 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Hyperuricemia, Renal salt wasting, Increased blood urea nitrogen... |
OMIM:613845 |
| Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Genu valgum, Rhizomelia, Micrognathia, Fragmented epiphyses, Epiphyseal... |
ORPHA:166016 |
| Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria |
ORPHA:100024 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, 11 pairs of ribs, Triphalangeal thumb, Micrognathia, Clinodactyly, Oligodactyly, Ove... |
OMIM:201170 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Narrow ili... |
ORPHA:85170 |
| Craniosynostosis With Fibular Aplasia |
|
Craniosynostosis, Fibular aplasia |
OMIM:218550 |
| Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Absent or minimally ossified vertebral bodies, Abnormal pelvis bone oss... |
ORPHA:1505 |
| Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Pericarditis, Renal interstitial immunoglobulin deposits, Membranous... |
ORPHA:449395 |
| Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Nephrotic syndrome, Abnormal EKG, Congestiv... |
ORPHA:330001 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Proteinuria, Membranoproliferative glomerulonephritis |
OMIM:619858 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Hypercalcemia, Ep... |
OMIM:171420 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Glomerular basement membrane lamellation, Stage 5 chronic kidney disease, Hematuria, Abnormal ren... |
OMIM:308940 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Renal h... |
OMIM:614376 |
| Acheiropodia |
|
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... |
ORPHA:931 |
| Dent Disease 1 |
|
Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Stage 5 chronic kidney disease, Gly... |
OMIM:300009 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Stage 5 chronic kidney disease, Proteinuria |
OMIM:219900 |
| Alport Syndrome 1, X-Linked |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hyp... |
OMIM:301050 |
| Weismann-Netter Syndrome |
|
Anterior tibial bowing, Lateral femoral bowing, Fibular bowing, Calvarial hyperostosis, Squared i... |
OMIM:112350 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Aminoaciduria, Renal tubular acidosis, Glycosuria, Nephropathy, Nephrocalcinosis, Proteinuria, Co... |
OMIM:613404 |
| Alkaptonuria |
|
Decreased glomerular filtration rate, Nephrolithiasis, Elevated urinary homogentisic acid |
OMIM:203500 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Nephropathy, Hematuria, Proteinuria |
ORPHA:1765 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Acute kidney injury, Dysuria, Renal tubular epithelial necrosis, Moderate albuminuria, Hematuria,... |
ORPHA:95455 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... |
OMIM:113310 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hypotension, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration,... |
OMIM:145600 |
| Primary Hyperoxaluria Type 3 |
|
Pollakisuria, Calcium oxalate nephrolithiasis, Dysuria, Abnormality of urine homeostasis, Hematur... |
ORPHA:93600 |
| Lysinuric Protein Intolerance |
|
Hyperlysinuria, Ornithinuria, Glomerulonephritis, Hypercholesterolemia, Argininuria, Renal fibros... |
ORPHA:470 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Nephrocalcinosis, Proteinuria, Hy... |
OMIM:616026 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Acute kidney injury, Hyperkalemia, Elevated creatine kinase after exercise, Arrhythmia, Myoglobin... |
ORPHA:57 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Nephrotic syndrome, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Distal renal tubular ... |
OMIM:146255 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Hypospadias, Proteinuria |
OMIM:619428 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal tubular atrophy, Nephrotic syndrome, Decreased glomerular filtration rate, Proteinuria, Ren... |
OMIM:614748 |
| Heme Oxygenase 1 Deficiency |
|
Hematuria, Hypertension, Diffuse alveolar hemorrhage, Nephritis, Epistaxis, Increased circulating... |
OMIM:614034 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Exercise-induced myoglobinuria, Renal insufficiency |
OMIM:300653 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Elevated circulating creati... |
OMIM:614723 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypercholesterolemia, Hyperuricemia, Stage 5 chronic kidney disease, Enlarged kidney, Hypertensio... |
ORPHA:79259 |
| Joubert Syndrome 35 |
|
Renal fibrosis, Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:618161 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Abnormality of the kidney, Proteinuria, Hyperlipidemia, Hypertrophic cardiomyopathy |
ORPHA:369 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Heavy prote... |
ORPHA:255249 |
| Becker Muscular Dystrophy |
|
Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:98895 |
| Nephronophthisis 9 |
|
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
| Renal Agenesis |
|
Ureteral agenesis, Renal insufficiency, Bilateral renal agenesis, Renal agenesis, Unilateral rena... |
ORPHA:411709 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Acute kidney injury, Hypertension, Increased circulating ferritin concentrat... |
OMIM:618886 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Proximal tubulopathy, Hypophosphatemia, Hypophosphatemic rickets, Low-mo... |
OMIM:300554 |
| Orofaciodigital Syndrome Iv |
|
Short tibia, Toe syndactyly, Micrognathia, Foot polydactyly, Short finger, Hand polydactyly, Clin... |
OMIM:258860 |
| Free Sialic Acid Storage Disease |
|
Proteinuria, Nephrotic syndrome |
ORPHA:834 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Nephrotic syndrome, Nephropathy, Proteinuria, Renal insufficiency, Focal segmenta... |
OMIM:254900 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Elevated circulating long chain fatty acid concentration, Hypospadias, Albuminuria... |
OMIM:214100 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:276621 |
| Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
| Genetic Recurrent Myoglobinuria |
|
Hyperphosphatemia, Acute kidney injury, Exercise-induced myoglobinuria, Highly elevated creatine ... |
ORPHA:99845 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Nephrotic syndrome, Glomerular sclerosis, Elevated circulating creatine kinase concentration, Hyp... |
OMIM:607426 |
| Cystinosis |
|
Aminoaciduria, Hypophosphatemia, Hypokalemia, Nephropathy, Proteinuria, Portal hypertension, Rena... |
ORPHA:213 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Transient ischemic attack, Abnormal renal physiology, Myocardial infar... |
OMIM:274150 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Hyperuricemia, Renal cyst, Nephropathy, Elevated circulating creatinine concentration, Focal segm... |
OMIM:617056 |
| Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Hematuria, Proteinuria, Gastrointestinal hemorrhage, Renal insufficiency, Vasculitis |
ORPHA:91138 |
| Juvenile Nephropathic Cystinosis |
|
Abnormal urine potassium concentration, Aminoaciduria, Proximal tubulopathy, Renal phosphate wast... |
ORPHA:411634 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria |
ORPHA:2774 |
| Microcephaly-Micromelia Syndrome |
|
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Absent radius, Ol... |
OMIM:251230 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Tubulointerstitial nephritis, Proteinuria, Hematuria |
OMIM:616901 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Highly elevated creatine kinase, Exercise-induced myoglobinuria |
ORPHA:352479 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Myoglobinuria, Hyperbilirubinemia |
ORPHA:713 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Elevated circulating creatine kinase concentration, Myoglobinuria, Cardiomyopathy |
ORPHA:119 |
| Xanthinuria, Type I |
|
Hyperxanthinemia, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria, Hydronephrosis |
OMIM:278300 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
| Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Proteinuria, Bilateral renal agenesis, Renal dysplasia |
OMIM:191830 |
| Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Uric acid nephrolithiasis, Crystalluria, Hyperuricemia, Stage 4 chronic kidney disease, Acute kid... |
ORPHA:411536 |
| Slc35A2-Cdg |
|
Short tibia, Camptodactyly of finger, Hip subluxation, Coxa valga, Abnormal long bone morphology,... |
ORPHA:356961 |
| Papillorenal Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot... |
OMIM:120330 |
| Fabry Disease |
|
Transient ischemic attack, Angina pectoris, Congestive heart failure, Hypertension, Myocardial in... |
OMIM:301500 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Acute kidney injury, Exercise-induced myoglobinuria, Elevated creatine kinase after exercise, Hyp... |
ORPHA:284426 |
| Pheochromocytoma |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Hypercalcemia, Re... |
OMIM:171300 |
| Metaphyseal Acroscyphodysplasia |
|
Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal... |
OMIM:250215 |
| Atelosteogenesis Type Iii |
|
Short tibia, Patellar dislocation, Vertebral hypoplasia, Short tubular bones of the hand, Microgn... |
ORPHA:56305 |
| Stuve-Wiedemann Syndrome 1 |
|
Short phalanx of finger, Short tibia, Micrognathia, Metaphyseal rarefaction, Camptodactyly, Hypop... |
OMIM:601559 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal hemorrhage, Telangiectasia, Punctate vasculitis skin lesions, Raynaud phenomenon, Hematur... |
OMIM:192315 |
| Paroxysmal Cold Hemoglobinuria |
|
Hemoglobinuria, Abnormal urinary color |
ORPHA:90035 |
| Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Hyperuricosuria, Stage 5 chronic kidney disease, Renal sodium wasting, G... |
ORPHA:3337 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Aminoaciduria, Proteinuria, Pulmonary hemorrhage |
OMIM:603585 |
| Glycogen Storage Disease Ixd |
|
Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:300559 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Decreased plasma ... |
ORPHA:157 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Rhizomelia, Short ribs, Hypoplasia of the radius, Short femur, Sandal gap, Short hum... |
OMIM:607143 |
| Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Hyperu... |
OMIM:603860 |
| Medullary Sponge Kidney |
|
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis |
ORPHA:1309 |
| Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Hypertension, Membranoproliferative glomerulonephritis, Increased blood urea nit... |
ORPHA:251004 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Abnormal morpholog... |
ORPHA:2634 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Myoglobinuria, Dicarboxylic aciduria, Dilated cardiomyopathy |
OMIM:231530 |
| Pandas |
|
Abnormal fear/anxiety-related behavior, Separation insecurity, Emotional lability, Depression, Ag... |
ORPHA:66624 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:29072 |
| Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptides, Prote... |
OMIM:256550 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Short phalanx of finger, Hip subluxation, Mesomelic leg shortening, Short 5th finger... |
OMIM:268305 |
| Simple Cryoglobulinemia |
|
Nephrotic syndrome, Abnormality of the kidney, Vasculitis, Raynaud phenomenon, Membranoproliferat... |
ORPHA:91139 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Tubulointerstitial nephritis, Aminoaciduria, Vitreous hemorrhage, Renal Fanconi syndrome, Beta 2-... |
ORPHA:91500 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypertrophic cardiomyopathy, Proteinuria, Renal Fan... |
ORPHA:436271 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Tubulointerstitial fibrosis, Raynaud phenomenon |
OMIM:607944 |
| Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Proteinuria |
ORPHA:69126 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
| Glycogen Storage Disease Vii |
|
Increased total bilirubin, Exercise-induced myoglobinuria, Hyperuricemia |
OMIM:232800 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Decreased plas... |
ORPHA:228305 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Decreased plasma ... |
ORPHA:228308 |
| Microphthalmia With Limb Anomalies |
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Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial hand polydactyly, Talipes e... |
ORPHA:1106 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2715 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal hypoplasia, Renal insufficiency, Proteinuria |
ORPHA:1307 |
| Renal Cysts And Diabetes Syndrome |
|
Hyperuricemia, Stage 5 chronic kidney disease, Abnormality of the kidney, Glycosuria, Unilateral ... |
OMIM:137920 |
| Hyperoxaluria, Primary, Type Ii |
|
Calcium oxalate nephrolithiasis, Hematuria, Nephrocalcinosis, Renal insufficiency, Hyperoxaluria |
OMIM:260000 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Hyperuricemia, Hprt-Related |
|
Renal insufficiency, Hyperuricemia, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
| Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Abnormal renal insterstitial morphology, Renal insufficienc... |
OMIM:614227 |
| Orofaciodigital Syndrome Ix |
|
Short tibia, Hand polydactyly, Camptodactyly, Toe syndactyly |
OMIM:258865 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Microscopic hematuria |
ORPHA:86818 |
| Primary Hyperoxaluria Type 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, ... |
ORPHA:93599 |
| Gapo Syndrome |
|
Tubulointerstitial fibrosis |
OMIM:230740 |
| Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Abnormal blood ion c... |
ORPHA:411629 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypertrophic cardiomyopathy, Proteinuria, Renal Fan... |
OMIM:220110 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Telangiectasia, Punctate vasculitis skin lesions, Raynaud phenomenon, Hypertension, Glomerular sc... |
ORPHA:247691 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas... |
OMIM:620138 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hemolytic-uremic syndrome, Methylmalonic aciduria, Cystathioninemia, Cystathioninuria, Methylmalo... |
OMIM:277400 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Toe syndactyly, Micrognathia, Flared iliac wing, Aplasia/hypoplasia of t... |
OMIM:609945 |
| Faciocardiomelic Dysplasia, Lethal |
|
Short 5th finger, Hypoplasia of the radius, Micrognathia, Hypoplasia of the ulna, Talipes, Short ... |
OMIM:227270 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Trapezoidal distal femoral condyles, Genu valgum, Metaphyseal irreg... |
OMIM:307800 |
| Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration, Proteinuria, Hematuria, Pulmonary venous hypertension |
ORPHA:90060 |
| Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Short toe... |
OMIM:609441 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Asymmetric radial dysplasia, R... |
OMIM:171480 |
| Ddost-Cdg |
|
Nephrotic range proteinuria |
ORPHA:300536 |
| Lymphedema-Distichiasis Syndrome |
|
Tubulointerstitial nephritis, Glomerulopathy, Renal duplication, Recurrent urinary tract infectio... |
ORPHA:33001 |
| Schimke Immuno-Osseous Dysplasia |
|
Nephrotic range proteinuria, Pulmonary arterial hypertension, Ischemic stroke, Cerebral ischemia,... |
ORPHA:1830 |
| Renal Nutcracker Syndrome |
|
Syncope, Hematuria, Renal artery stenosis, Orthostatic hypotension, Proteinuria, Tachycardia, Mic... |
ORPHA:71273 |
| Legionnaires Disease |
|
Hypotension, Hematuria, Pericarditis, Proteinuria, Arrhythmia, Hyponatremia, Renal insufficiency,... |
ORPHA:549 |
| Donnai-Barrow Syndrome |
|
Proteinuria |
ORPHA:2143 |
| Galloway-Mowat Syndrome |
|
Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:2065 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal cupping, Coxa vara, Rhizomelia, Radial bowing, Flared iliac wing, Ulnar b... |
OMIM:602111 |
| Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Hyperuricosuria, Hypovolemia, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting r... |
ORPHA:47159 |
| Malignant Hyperthermia Of Anesthesia |
|
Supraventricular tachycardia, Hyperphosphatemia, Acute kidney injury, Hyperkalemia, Elevated crea... |
ORPHA:423 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Rhizomelia, Short ribs, Short long bone, Flat acetabular roof, Microretrognathia, Hy... |
OMIM:616300 |
| Grant Syndrome |
|
Micrognathia, Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Abnormal circulating fatty-acid concentration, Hypophosphatemic rickets, Proteinuria,... |
ORPHA:263455 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Tubulointerstitial nephritis, Glomerulopathy, Transient ischemic attack, Hematuria, Congestive he... |
ORPHA:183 |
| Hypocomplementemic Urticarial Vasculitis |
|
Glomerulopathy, Small vessel vasculitis, Hematuria, Proteinuria, Renal insufficiency |
ORPHA:36412 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Patellar hypoplasia, Preaxial foot polydactyly, Absent tibia, Mirror image foot polydactyly, Bila... |
OMIM:119800 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Metaphyseal irregularity, Bulging epiphyses, Tibial bowing, Sparse bone trabecu... |
OMIM:600081 |
| Schimke Immunoosseous Dysplasia |
|
Pulmonary arterial hypertension, Cerebral ischemia, Nephrotic syndrome, Stage 5 chronic kidney di... |
OMIM:242900 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hyperalaninemia, Hypospadias, Increased serum pyruvate, Mild proteinuria, Renal insufficiency |
OMIM:619147 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Micrognathia, Lower limb undergrowth, Abnormality of the lower limb, Abnormality o... |
ORPHA:3035 |
| Aicardi-Goutieres Syndrome 9 |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Hypertension, Glomerular scle... |
OMIM:619487 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Postaxial polydactyly, Short ribs, Short long bone, Absent tibia, Short di... |
OMIM:613091 |
| Shox-Related Short Stature |
|
Genu valgum, Micrognathia, Lower limb undergrowth, Ulnar radial head dislocation, Forearm undergr... |
ORPHA:314795 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Nephrotic syndrome, Enlarged kidney, Congestive heart failure, Nephritis, ... |
OMIM:617303 |
| Pediatric Systemic Lupus Erythematosus |
|
Nephrotic syndrome, Raynaud phenomenon, Hematuria, Nephritis, Proteinuria, Abnormality of the uri... |
ORPHA:93552 |
| Galloway-Mowat Syndrome 3 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Hypertension, Glomerular sclerosis, Diffuse m... |
OMIM:617729 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Heart murmur, Multiple bladder diverticula |
ORPHA:2728 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Coxa vara, Micrognathia, Hip dysplasia, Preaxial foot polydactyl... |
ORPHA:1988 |
| Cystinuria |
|
Renal insufficiency, Hyperuricemia, Hematuria, Nephrolithiasis |
ORPHA:214 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Hyperbilirubinemia, Increased serum bile acid concentration, Mild proteinuria |
OMIM:619685 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Exercise-induced myoglobinuria,... |
OMIM:201475 |
| Majeed Syndrome |
|
Glomerulopathy, Proteinuria, Microscopic hematuria |
ORPHA:77297 |
| Neuroleptic Malignant Syndrome |
|
Hypotension, Urinary incontinence, Pulmonary embolism, Hyperuricemia, Hyperphosphatemia, Acute ki... |
ORPHA:94093 |
| Malakoplakia |
|
Dysuria, Urinary urgency, Hematuria, Urinary bladder inflammation, Proteinuria, Urinary hesitancy |
ORPHA:556 |
| Ohdo Syndrome |
|
Proteinuria |
OMIM:249620 |
| Cocaine Intoxication |
|
Tubulointerstitial nephritis, Hypotension, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Acu... |
ORPHA:90068 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Pulmonary embolism, Acute kidney injury, Hemoglobinuria, Glycosuria, U... |
ORPHA:447 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Congestive heart failur... |
OMIM:609015 |
| Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Aminoaciduria, Hyperphosphaturia, Decreased plasma carnitine, Hypoph... |
OMIM:219800 |
| Hellp Syndrome |
|
Hypotension, Cerebral hemorrhage, Acute kidney injury, Hemoglobinuria, Internal hemorrhage, Prote... |
ORPHA:244242 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Exercise-induced myoglobinuria, Abnormal left ventricular function, Dilated cardiomyopathy, Eleva... |
OMIM:607155 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Hypoplastic pubic bone, Short ribs, Short long bone, Micrognathia, Preaxial polydact... |
OMIM:617925 |
| Martin-Probst Syndrome |
|
Telangiectasia, Proteinuria, Renal insufficiency, Micropenis, Chordee |
OMIM:300519 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Patellar dislocation, Finger syndactyly, Tibial torsion, Micrognathia, Hi... |
ORPHA:3320 |
| Eiken Syndrome |
|
Broad femoral neck, Pseudoepiphyses, Long hallux, Narrow pelvis bone, Delayed ossification of car... |
OMIM:600002 |
| Ophthalmomandibulomelic Dysplasia |
|
Coxa valga, Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia |
OMIM:164900 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
3-Methylglutaconic aciduria, Ketonuria, Highly elevated creatine kinase, Elevated circulating cre... |
OMIM:251900 |
| Nail-Patella Syndrome |
|
Nephrotic syndrome, Hematuria, Glomerulonephritis, Proteinuria, Renal insufficiency |
OMIM:161200 |
| Xfe Progeroid Syndrome |
|
Renal insufficiency, Hypertension, Proteinuria, Hypoalbuminemia |
OMIM:610965 |
| Nephrolithiasis, Calcium Oxalate |
|
Acute kidney injury, Calcium oxalate nephrolithiasis, Hyperoxaluria, Ureteropelvic junction obstr... |
OMIM:167030 |
| Omodysplasia 1 |
|
Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Rhizomelia, M... |
OMIM:258315 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased C-peptide level, Increased circulating free fatty acid level, Decreased plasma carnitin... |
ORPHA:71212 |
| Fabry Disease |
|
Glomerulopathy, Abnormal circulating lipid concentration, Angina pectoris, Hypertrophic cardiomyo... |
ORPHA:324 |
| Osteootohepatoenteric Syndrome |
|
Hypokalemia, Proteinuria, Grade II vesicoureteral reflux, Increased serum bile acid concentration |
OMIM:619377 |
| Pierson Syndrome |
|
Retinal hemorrhage, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypertension, Hypoprotein... |
OMIM:609049 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pulmonary insufficiency, Nephritis, Renal cyst, Proteinuria, Renal insufficiency, Conjugated hype... |
OMIM:208500 |
| Lymphatic Filariasis |
|
Nephrotic syndrome, Abnormality of the kidney, Hematuria, Glomerulonephritis, Proteinuria, Urethr... |
ORPHA:2035 |
| Gitelman Syndrome |
|
Palpitations, Decreased urinary potassium, Renal tubular acidosis, Low-to-normal blood pressure, ... |
ORPHA:358 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Unconjugated hyperbilirubinemia, Hemoglobinuria, Decreased glucose-6-phosphate dehydrogenase leve... |
OMIM:300908 |
