| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
| Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
| Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
| Blue Diaper Syndrome |
|
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... |
OMIM:308990 |
| Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... |
OMIM:616963 |
| Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
| Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
| Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... |
OMIM:300555 |
| Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology |
OMIM:609886 |
| Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
| Hypercalcemia, Infantile, 1 |
|
Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalci... |
OMIM:143880 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
| Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia |
ORPHA:33111 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
| Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
| Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
| Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
| Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... |
ORPHA:94088 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
| Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
| Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... |
OMIM:618913 |
| Hypouricemia, Renal, 1 |
|
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... |
OMIM:220150 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Nephrocalcinosis, Renal tubular acidosis, Hypercalcemia, Hypercalciuria |
OMIM:239199 |
| Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology |
OMIM:602114 |
| Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
| Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
| Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... |
OMIM:601198 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Nephrocalcinosis, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria |
OMIM:602722 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... |
OMIM:617056 |
| Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... |
ORPHA:1652 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
| Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... |
ORPHA:99879 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
| Blue Diaper Syndrome |
|
Nephrocalcinosis, Blue urine, Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
| Paget Disease Of Bone 6 |
|
Nephrocalcinosis |
OMIM:616833 |
| Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... |
OMIM:602088 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Hypouricemia, Hypophosphatemia, Nephrocalcinosis, Aminoaciduria, ... |
OMIM:616026 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
| Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
| C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Tubulointerstitial fibrosis |
OMIM:263000 |
| Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
| Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... |
OMIM:123550 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Distal renal tubular acidosis, Hypokalemia, Nephrocalcinosis |
OMIM:611590 |
| Xanthinuria, Type Ii |
|
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... |
OMIM:603592 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... |
OMIM:613845 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
| Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... |
ORPHA:79233 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... |
OMIM:162000 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoacidur... |
OMIM:613404 |
| Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury |
ORPHA:54057 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... |
OMIM:300554 |
| Peroxisome Biogenesis Disorder 10B |
|
Nephrocalcinosis, Neurogenic bladder |
OMIM:617370 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Absence of renal corticomedullary differentiation, Multiple small medullary ... |
OMIM:263200 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Nephrocalcinosis |
OMIM:615633 |
| Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Increased circulating beta-C-terminal telopeptide concentration, Hypercalciuri... |
ORPHA:157215 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
| Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so... |
ORPHA:320 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis |
OMIM:613312 |
| Preeclampsia |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c... |
ORPHA:275555 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ... |
OMIM:274150 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tub... |
OMIM:208085 |
| Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
| Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog... |
OMIM:614227 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
| Glycogen Storage Disease Iv |
|
Tubulointerstitial fibrosis |
OMIM:232500 |
| Drug-Induced Lupus Erythematosus |
|
Hematuria, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... |
ORPHA:231111 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d... |
OMIM:616733 |
| Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypertriglyceridemia, Hypercalciuria, Generalized aminoaciduria, Hypophosphate... |
ORPHA:2088 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... |
OMIM:146255 |
| Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... |
ORPHA:2260 |
| 46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure... |
OMIM:154230 |
| Lesch-Nyhan Syndrome |
|
Nephrocalcinosis, Hyperuricemia, Nephrolithiasis, Hyperuricosuria |
OMIM:300322 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... |
ORPHA:49041 |
| Oculoskeletodental Syndrome |
|
Nephrocalcinosis, Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
| Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... |
ORPHA:839 |
| Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hypercalciuria, Nephr... |
OMIM:241500 |
| Hypouricemia, Renal, 2 |
|
Hypouricemia, Nephrolithiasis |
OMIM:612076 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... |
OMIM:613095 |
| Developmental And Epileptic Encephalopathy 41 |
|
Nephrocalcinosis |
OMIM:617105 |
| Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Nephrocalcinosis |
ORPHA:500533 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Nephrocalcinosis |
OMIM:611087 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog... |
ORPHA:251004 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Hypophosphatemic rickets |
OMIM:614473 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... |
ORPHA:405 |
| Coach Syndrome 2 |
|
Hyperechogenic kidneys, Elevated circulating creatinine concentration |
OMIM:619111 |
| Microvillus Inclusion Disease |
|
Nephrocalcinosis, Abnormal renal physiology |
ORPHA:2290 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosphatemia |
OMIM:156400 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614376 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypophosphate... |
OMIM:619743 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypokalemia, Renal a... |
OMIM:617913 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Nephrolithiasis, Stage 5 chronic kidney diseas... |
ORPHA:79259 |
| Orthostatic Hypotension 1 |
|
Hypomagnesemia, Nocturia, Increased blood urea nitrogen |
OMIM:223360 |
| Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... |
OMIM:243910 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis |
OMIM:615398 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... |
OMIM:223900 |
| Tyrosinemia, Type I |
|
Hypertyrosinemia, Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Neph... |
OMIM:276700 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
| Hyperuricemia, Hprt-Related |
|
Hyperuricemia, Renal insufficiency, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... |
ORPHA:89938 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst |
ORPHA:445038 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hypo... |
ORPHA:73224 |
| Cystinuria |
|
Hematuria, Hyperuricemia, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
| Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem... |
ORPHA:439232 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Hypercalcemia, Renal salt wasting, ... |
OMIM:601678 |
| Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
| Enamel-Renal Syndrome |
|
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... |
ORPHA:1031 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
| Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... |
ORPHA:416 |
| Autosomal Dominant Hypocalcemia |
|
Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypermagnesiuria |
ORPHA:428 |
| Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Increas... |
ORPHA:230 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:99880 |
| Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:259900 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, Increased circulating r... |
ORPHA:90041 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
| Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:143 |
| Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of... |
ORPHA:369837 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Renal insufficiency, Proteinuria, Hypocalcemic tetany, Hypouricemia, Chronic kidney... |
ORPHA:411634 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... |
OMIM:620138 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Hypomagnesemia, Stag... |
OMIM:219800 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina... |
OMIM:241200 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Aminoaciduria |
OMIM:616084 |
| Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91547 |
| Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
| Intellectual Disability-Strabismus Syndrome |
|
Micropenis, Medullary nephrocalcinosis, Hypospadias |
ORPHA:363528 |
| Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Tubulointerstitial fibrosis |
OMIM:607944 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase concentration, Lo... |
OMIM:608836 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Proteinuria, Hypoammonemia, Proximal renal tub... |
ORPHA:534 |
| Gapo Syndrome |
|
Tubulointerstitial fibrosis |
OMIM:230740 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Urinary... |
OMIM:618885 |
| Rabson-Mendenhall Syndrome |
|
Nephrocalcinosis, Hypokalemia, Long penis, Increased C-peptide level |
ORPHA:769 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Nephrocalcinosis |
OMIM:240300 |
| Cockayne Syndrome Type 1 |
|
Renal insufficiency, Proteinuria, Increased blood urea nitrogen |
ORPHA:90321 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Nephrocalcinosis |
OMIM:618005 |
| Familial Tumoral Calcinosis |
|
Nephrocalcinosis |
ORPHA:53715 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output, Hyper... |
ORPHA:542323 |
| Pseudoxanthoma Elasticum |
|
Nephrocalcinosis |
ORPHA:758 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... |
ORPHA:447 |
| Diffuse Alveolar Hemorrhage |
|
Hematuria, Elevated circulating creatinine concentration, Proteinuria |
ORPHA:90060 |
| Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... |
ORPHA:470 |
| Shwachman-Diamond Syndrome 1 |
|
Nephrocalcinosis |
OMIM:260400 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication |
OMIM:268310 |
| Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral reflux, Nephroblastoma, E... |
OMIM:130650 |
| Multiple Myeloma |
|
Hypercalcemia, Elevated circulating creatinine concentration, Abnormality of the bladder, Nephrot... |
ORPHA:29073 |
| Familial Mediterranean Fever |
|
Nephrocalcinosis, Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:342 |
| Trisomy 8P |
|
Nephrocalcinosis, Fetal pyelectasis, Hydronephrosis, Micropenis |
ORPHA:264450 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
| Leprechaunism |
|
Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increased circulating renin level, Enl... |
ORPHA:508 |
| Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Elevated circulating C-reactive protein concentration, Renal in... |
ORPHA:449395 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Nephrocalcinosis, Hypercalciuria, Renal dysplasia |
OMIM:300990 |
| Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Increased blood urea nitrogen,... |
OMIM:233450 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Glomerular sclerosis, Nephropathy, Elevated circulating creatinine concentration, Proteinuria |
ORPHA:247691 |
| Williams Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Renal insufficiency, Proteinuria, Hyperc... |
ORPHA:904 |
| Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
| Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Elevated circulating creatinine ... |
ORPHA:340 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst |
OMIM:617478 |
| Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena... |
ORPHA:2044 |
| Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Glomerulonephritis, Elevated circulating... |
ORPHA:36234 |
| Williams-Beuren Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Hypercalcemia, Abnormal renal morphology... |
OMIM:194050 |
| Arthrogryposis Multiplex Congenita 5 |
|
Medullary nephrocalcinosis |
OMIM:618947 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,... |
ORPHA:90038 |
| Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91500 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... |
ORPHA:411629 |
| Sarcoidosis |
|
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Tubulointe... |
ORPHA:797 |
| Floating-Harbor Syndrome |
|
Hypospadias, Glandular hypospadias, Nephrocalcinosis, Congenital posterior urethral valve, Hydron... |
OMIM:136140 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Nephrocalcinosis, Micropenis |
OMIM:617402 |
| Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Oliguria |
ORPHA:97292 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Conjugated hyperbilirubinemia, Increased circulating ferritin co... |
OMIM:619534 |
| Doors Syndrome |
|
Nephrocalcinosis, Abnormality of the urinary system, Hydronephrosis, Increased urine alpha-ketogl... |
ORPHA:79500 |
| Generalized Arterial Calcification Of Infancy |
|
Hyperphosphaturia, Nephrocalcinosis, Hypophosphatemic rickets, Medullary nephrocalcinosis, Cortic... |
ORPHA:51608 |
| Yellow Fever |
|
Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Elevated circula... |
ORPHA:99829 |
| Marburg Hemorrhagic Fever |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate... |
ORPHA:99826 |
