| Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Cataract 18 |
|
Cataract |
OMIM:610019 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
| Cataract 39, Multiple Types |
|
Developmental cataract |
OMIM:615188 |
| Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
| Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
| Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
| Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Galactosemia Ii |
|
Galactosuria, Cataract |
OMIM:230200 |
| Cataract-Nephropathy-Encephalopathy Syndrome |
|
Renal tubular dysfunction, Cataract |
ORPHA:1380 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Recurrent urinary tract infections, Chr... |
OMIM:248190 |
| Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
| Cataract 12, Multiple Types |
|
Developmental cataract, Progressive cataract |
OMIM:611597 |
| Hypomagnesemia 3, Renal |
|
Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolithiasis, Hypo... |
OMIM:248250 |
| Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability |
|
Renal potassium wasting, Renal magnesium wasting, Nephrocalcinosis |
ORPHA:564178 |
| Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
| Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
| Hypomagnesemia 2, Renal |
|
Hypocalciuria, Renal insufficiency, Renal magnesium wasting |
OMIM:154020 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolit... |
ORPHA:405 |
| Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Renal potassium wasting, Polyuria, Renal magnesium wasting |
OMIM:618314 |
| Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... |
OMIM:308990 |
| Idiopathic Hypercalciuria |
|
Hypercalciuria, Renal calcium wasting, Calcium oxalate nephrolithiasis |
ORPHA:2197 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... |
OMIM:310468 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Renal salt wasting |
OMIM:201710 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
| Cataract 1, Multiple Types |
|
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... |
OMIM:116200 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| East Syndrome |
|
Renal salt wasting, Renal sodium wasting, Abnormal urinary electrolyte concentration, Enuresis, R... |
ORPHA:199343 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Decreased glomerular fi... |
ORPHA:18 |
| Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia |
|
Hypermagnesiuria |
ORPHA:34527 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Proximal renal tubular acidosis, Band keratopathy, Cataract, Bicarbonate-wasting renal tubular ac... |
OMIM:604278 |
| Cataract 41 |
|
Nuclear cataract, Developmental cataract |
OMIM:116400 |
| Cataract 15, Multiple Types |
|
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract |
OMIM:615274 |
| Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
| Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
| Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
| Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... |
OMIM:177650 |
| Hypercalcemia, Infantile, 2 |
|
Nephrocalcinosis, Renal phosphate wasting, Medullary nephrocalcinosis, Hypercalciuria, Polyuria |
OMIM:616963 |
| Aniridia 2 |
|
Aniridia, Cataract |
OMIM:617141 |
| Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
| Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal phosphate wasting |
OMIM:241519 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hyperphosphaturia, Hypercalciuria, Renal phosphate wasting, Nephrolithiasis |
OMIM:612286 |
| Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Corneal erosion, Nephrotic syndrome, Hematuria, Nephrit... |
OMIM:203780 |
| Cataract 3, Multiple Types |
|
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract |
OMIM:601547 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
| Tubular Renal Disease-Cardiomyopathy Syndrome |
|
Nephrocalcinosis, Abnormal renal resorption, Hyperprostaglandinuria, Hypermagnesiuria, Hypercalci... |
ORPHA:73224 |
| Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hyperphosphaturia, Renal phosphate wasting, Nephrolithiasis |
OMIM:612287 |
| Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypercalciuria |
OMIM:242050 |
| Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Aminoaciduria, Proteinuria, Glycosuria |
OMIM:615605 |
| Cataract 43 |
|
Subcapsular cataract |
OMIM:616279 |
| Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
| Ectopia Lentis Et Pupillae |
|
Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
| Fanconi Renotubular Syndrome 2 |
|
Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Hypercalciuria, Renal insufficiency |
OMIM:613388 |
| Cataract 5, Multiple Types |
|
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract |
OMIM:116800 |
| Gitelman Syndrome |
|
Hypocalciuria, Renal potassium wasting, Enuresis, Polyuria, Nocturia, Renal magnesium wasting |
OMIM:263800 |
| Dent Disease 2 |
|
Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Chronic kidney disease,... |
OMIM:300555 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis |
OMIM:269400 |
| Peters Anomaly |
|
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... |
ORPHA:708 |
| Autosomal Dominant Hypocalcemia |
|
Hypermagnesiuria, Hypercalciuria, Nephrocalcinosis |
ORPHA:428 |
| Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
| Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
| Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... |
OMIM:107250 |
| Dent Disease |
|
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... |
ORPHA:1652 |
| Hereditary Renal Hypouricemia |
|
Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, Decreased glome... |
ORPHA:94088 |
| Adrenocortical Hypofunction, Chronic Primary Congenital |
|
Hypernatriuria |
OMIM:103230 |
| Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... |
ORPHA:67043 |
| Cataract 30, Multiple Types |
|
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
| Hypokalemic Tubulopathy And Deafness |
|
Renal salt wasting |
OMIM:619406 |
| Bartter Syndrome, Type 3 |
|
Renal salt wasting, Increased urinary potassium, Hypocalciuria, Renal potassium wasting, Hyperchl... |
OMIM:607364 |
| Dent Disease 1 |
|
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Glycos... |
OMIM:300009 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Renal tubular acidosis, Hypercalciuria, Nephrocalcinosis |
OMIM:239199 |
| Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
| Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... |
OMIM:610256 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta... |
ORPHA:730 |
| Cataract 31, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract |
OMIM:605387 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Renal salt wasting |
OMIM:201910 |
| Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Renal salt wasting |
OMIM:613743 |
| Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Increased urinary potassium, Decreased glomerular filtration rate, Renal insufficiency, Hyperchlo... |
OMIM:613090 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Nephrocalcinosis, Glycosuria, Aminoaciduria, Proteinuria |
OMIM:616026 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... |
OMIM:174000 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, N... |
ORPHA:47159 |
| Cataract 33, Multiple Types |
|
Nuclear cataract, Lamellar cataract, Cortical cataract |
OMIM:611391 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Increased urinary potassium, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, R... |
OMIM:602522 |
| Juvenile Nephropathic Cystinosis |
|
Renal Fanconi syndrome, Proximal tubulopathy, Stage 5 chronic kidney disease, Glycosuria, Renal p... |
ORPHA:411634 |
| Primary Fanconi Renotubular Syndrome |
|
Generalized aminoaciduria, Renal sodium wasting, Bicarbonate-wasting renal tubular acidosis, Incr... |
ORPHA:3337 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Distal renal tubular acidosis, Nephrocalcinosis |
OMIM:602722 |
| Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
| Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Renal salt wasting, Renal sodium wasting, Hypocalciuria, Renal potassium wasting, Enuresis, Polyuria |
OMIM:612780 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Renal phosphate wasting, Low-molecular-w... |
OMIM:300554 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypocalciuria, Hypercalciuria, Nephrolithiasis |
OMIM:145980 |
| Cranioectodermal Dysplasia 1 |
|
Chronic kidney disease, Tubulointerstitial nephritis, Renal magnesium wasting |
OMIM:218330 |
| Familial Isolated Hyperparathyroidism |
|
Hyperphosphaturia, Hypercalciuria, Renal insufficiency, Nephrocalcinosis |
ORPHA:99879 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Renal salt wasting |
OMIM:614736 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular fil... |
ORPHA:85450 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Proteinuria, Hyperechogenic kidneys, Renal salt wasting, Polyuria |
OMIM:613845 |
| Hypercalcemia, Infantile, 1 |
|
Hypercalciuria, Polyuria, Nephrolithiasis, Nephrocalcinosis |
OMIM:143880 |
| Wilson Disease |
|
Hyperphosphaturia, Renal tubular dysfunction, Aminoaciduria, Nephrolithiasis, Glycosuria, Kayser-... |
OMIM:277900 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Micropenis, Hypercalciuria |
OMIM:614732 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hypernatriuria |
OMIM:300539 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Renal salt wasting |
OMIM:610600 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Renal salt wasting |
OMIM:203400 |
| Infantile Nephropathic Cystinosis |
|
Renal Fanconi syndrome, Corneal crystals, Renal tubular dysfunction, Hyperphosphaturia, Abnormal ... |
ORPHA:411629 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting |
OMIM:193100 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Decreased glomerular filtration rate, Nephrolithiasis, Nephrocalcinosis, Hypercalciuria |
OMIM:601198 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi... |
OMIM:145981 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hyperphosphaturia, Medullary nephrocalcinosis |
OMIM:613312 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Renal salt wasting |
OMIM:264350 |
| Senior-Boichis Syndrome |
|
Renal hypoplasia, Abnormal renal insterstitial morphology, Thickening of the tubular basement mem... |
ORPHA:84081 |
| Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Generalized aminoaciduria, Nephrocalcinosis, Renal tubular acidosis, Glycosuri... |
ORPHA:2088 |
| Enamel-Renal Syndrome |
|
Nephrocalcinosis, Hypophosphaturia, Hypocalciuria, Impaired renal concentrating ability, Nephropa... |
ORPHA:1031 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria |
ORPHA:157215 |
| Familial Hypoaldosteronism |
|
Renal salt wasting, Decreased urinary potassium, Proximal renal tubular acidosis |
ORPHA:427 |
| Bartter Syndrome, Type 1, Antenatal |
|
Nephrocalcinosis, Increased urinary potassium, Hyperprostaglandinuria, Hyperchloriduria, Renal po... |
OMIM:601678 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Glycosuria, Aminoaciduria, ... |
OMIM:220110 |
| Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria |
OMIM:227810 |
| Apparent Mineralocorticoid Excess |
|
Abnormal urine sodium concentration, Renal insufficiency, Nephrocalcinosis |
ORPHA:320 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypercalciuria |
ORPHA:2239 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Medullary nephrocalcinosis, Polyuria, Hypercalciuria |
OMIM:300971 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Glycosuria, Aminoaciduria, ... |
ORPHA:436271 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal phosphate wasting, Calcium nephrolithiasis, Hypercalciuria, Renal tubular dysfunction |
OMIM:241530 |
| Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hypercalciuria, Polyuria |
OMIM:613677 |
| Oculoskeletodental Syndrome |
|
Developmental cataract, Renal agenesis, Mucopolysacchariduria, Hypercalciuria |
OMIM:618440 |
| Late-Onset Familial Hypoaldosteronism |
|
Renal sodium wasting |
ORPHA:556037 |
| Hypophosphatasia, Infantile |
|
Phosphoethanolaminuria, Hypercalciuria, Elevated urine pyrophosphate, Nephrocalcinosis |
OMIM:241500 |
| Bartter Syndrome, Type 2, Antenatal |
|
Nephrocalcinosis, Increased urinary potassium, Hyperprostaglandinuria, Hyperchloriduria, Renal po... |
OMIM:241200 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Multiple small medullary renal cysts, Parathormone-independent increased renal tubular calcium re... |
OMIM:600740 |
| Infantile Bartter Syndrome With Sensorineural Deafness |
|
Nephrocalcinosis, Increased urinary potassium, Chronic kidney disease, Hyperprostaglandinuria, St... |
ORPHA:89938 |
| Primary Hyperoxaluria |
|
Nephrocalcinosis, Hyperoxaluria, Calcium oxalate nephrolithiasis, Hematuria, Aciduria, Stage 5 ch... |
ORPHA:416 |
| Early-Onset Familial Hypoaldosteronism |
|
Renal sodium wasting |
ORPHA:556030 |
| Hyperparathyroidism, Neonatal Severe |
|
Hyperphosphaturia, Hypercalciuria, Polyuria, Aminoaciduria |
OMIM:239200 |
| Helix Syndrome |
|
Hypocalciuria, Polyuria, Renal insufficiency, Nephrolithiasis |
OMIM:617671 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hyperphosphaturia, Horseshoe kidney, Corneal opacity |
OMIM:163200 |
| Adrenal Hypoplasia, Congenital |
|
Renal salt wasting |
OMIM:300200 |
| Familial Glucocorticoid Deficiency |
|
Renal salt wasting, Recurrent urinary tract infections, Hypernatriuria |
ORPHA:361 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal phosphate wasting, Renal tubular dysfunction |
OMIM:307800 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypercalciuria, Ureteral stenosis, Renal cyst, Nephrocalcinosis |
OMIM:615398 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia |
ORPHA:89937 |
| Oncogenic Osteomalacia |
|
Hyperphosphaturia, Renal phosphate wasting |
ORPHA:352540 |
| Familial Hyperaldosteronism Type Iii |
|
Hypercalciuria |
ORPHA:251274 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hyperphosphaturia, Hypercalciuria, Nephrocalcinosis |
OMIM:156400 |
| Primary Unilateral Adrenal Hyperplasia |
|
Increased urinary potassium |
ORPHA:231580 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Renal phosphate wasting |
OMIM:612089 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Renal salt wasting, Long penis, Increased urinary 11-deoxycorticosterone level |
ORPHA:90795 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Renal salt wasting, Penoscrotal hypospadias |
ORPHA:90791 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Urogenital sinus anomaly, Abnormal urine potassium concentration, Renal sal... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Urogenital sinus anomaly, Abnormal urine potassium concentration, Renal sal... |
ORPHA:289548 |
| Fructose Intolerance, Hereditary |
|
Hyperphosphaturia, Transient aminoaciduria, Proximal tubulopathy, Proximal renal tubular acidosis... |
OMIM:229600 |
| Lowe Oculocerebrorenal Syndrome |
|
Hyperphosphaturia, Renal Fanconi syndrome, Developmental cataract, Dense posterior cortical catar... |
OMIM:309000 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Increased urinary potassium |
ORPHA:231625 |
| Acute Adrenal Insufficiency |
|
Renal salt wasting, Renal insufficiency, Decreased urinary potassium |
ORPHA:95409 |
| Hypophosphatemic Rickets |
|
Hyperphosphaturia, Nephrocalcinosis, Hypocalciuria, Renal phosphate wasting, Hypercalciuria, Rena... |
ORPHA:437 |
| Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary epinephrine, Elevated urinary vanillylmandelic acid, Elevated urinary catecholam... |
ORPHA:653 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Buphthalmos, Nephrocalcinosis, Hematuria, Nephrolithiasis, Proximal renal tubular acidosis, Lenti... |
ORPHA:534 |
| Opsismodysplasia |
|
Renal phosphate wasting |
OMIM:258480 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Nephrocalcinosis, Abnormality of the urinary system, Congenital megaureter, Renal dysplasia, Rena... |
ORPHA:369837 |
| Mccune-Albright Syndrome |
|
Hyperphosphaturia, Renal phosphate wasting, Renal tubular dysfunction |
ORPHA:562 |
| Gitelman Syndrome |
|
Renal Fanconi syndrome, Focal segmental glomerulosclerosis, Tubulointerstitial nephritis, Renal t... |
ORPHA:358 |
| Lysosomal Acid Lipase Deficiency |
|
Renal salt wasting, Hypernatriuria, Abnormal urine potassium concentration |
ORPHA:275761 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Renal dysplasia, Hypercalciuria, Cataract, Nephrocalcinosis |
OMIM:300990 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormality of renal excretion, Renal phosphate wasting, Hyperphosphaturia |
ORPHA:289176 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrocalcinosis, Renal cyst, Nephrolithiasis, Renal hamartoma, Renal insufficiency, Hypercalciur... |
ORPHA:99880 |
| Parathyroid Carcinoma |
|
Nephrocalcinosis, Renal cyst, Nephrolithiasis, Renal hamartoma, Renal insufficiency, Hypercalciur... |
ORPHA:143 |
| Addison Disease |
|
Renal salt wasting, Decreased urinary potassium |
ORPHA:85138 |
| X-Linked Hypophosphatemia |
|
Hypocalciuria, Renal phosphate wasting |
ORPHA:89936 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Elevated urinary epinephrine, Long penis, Urogenital sinus anomaly, Renal salt wasting, Hypernatr... |
ORPHA:90794 |
| Williams Syndrome |
|
Megalocornea, Hypercalciuria, Abnormality of the bladder, Renovascular hypertension, Nephrocalcin... |
ORPHA:904 |
| Thyrotoxic Periodic Paralysis |
|
Decreased urinary potassium, Urinary retention |
ORPHA:79102 |
| Gaisböck Syndrome |
|
Hypernatriuria, Nephrocalcinosis |
ORPHA:90041 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital megaureter, Nephrolithiasis, Multiple renal cysts, Nephropathy, ... |
ORPHA:116 |
| Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
|
Hypospadias, Hypercalciuria, Microscopic nephrocalcinosis |
OMIM:219721 |
| Williams-Beuren Syndrome |
|
Blue irides, Renal hypoplasia, Urethral stenosis, Nephrocalcinosis, Pelvic kidney, Recurrent urin... |
OMIM:194050 |
| Sarcoidosis |
|
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Nephrocalcinosis, Nephrolithiasis, Cata... |
ORPHA:797 |
| Osteogenesis Imperfecta |
|
Hypercalciuria, Corneal opacity, Nephrolithiasis |
ORPHA:666 |
| Leprechaunism |
|
Enlarged kidney, Hypercalciuria, Long penis, Nephrocalcinosis |
ORPHA:508 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Hypocalciuria, Hypophosphaturia |
ORPHA:73223 |
| Multiple Endocrine Neoplasia Type 1 |
|
Hypercalciuria, Nephrolithiasis |
ORPHA:652 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hypercalciuria |
OMIM:181000 |
| Cystic Fibrosis |
|
Hypercalciuria |
OMIM:219700 |
| Generalized Arterial Calcification Of Infancy |
|
Cortical nephrocalcinosis, Hyperphosphaturia, Medullary nephrocalcinosis, Nephrocalcinosis |
ORPHA:51608 |
| Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11 |
|
|
OMIM:619441 |
