Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... |
OMIM:616963 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria... |
OMIM:308990 |
Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal phosphate wasting, Renal hypophosphatemia |
OMIM:241519 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Hypercalciuria, Hyperphosphaturia |
OMIM:612286 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Dent Disease 2 |
|
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con... |
OMIM:300555 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Renal tubular acidosis, Vomiting, Hypercalciuria, Hypercalcemia, Nephrocalcinosis |
OMIM:239199 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, Renal insufficiency, Hypercalcemia, Infantil... |
ORPHA:99879 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal insufficiency, Pro... |
OMIM:613388 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia |
OMIM:612287 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hypocalcemia, Decreased glomerular filtration rate,... |
OMIM:601198 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... |
ORPHA:94088 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... |
OMIM:161900 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... |
OMIM:615605 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Vomiting, Hypercalciuria, Distal renal tubular acidosis, Nephrocalcinosis |
OMIM:602722 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... |
OMIM:310468 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypercalciuria, Hypouricemia |
OMIM:242050 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration |
OMIM:603233 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
Medullary Sponge Kidney |
|
Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria |
ORPHA:1309 |
Idiopathic Hypercalciuria |
|
Renal calcium wasting, Hypercalciuria, Calcium oxalate nephrolithiasis |
ORPHA:2197 |
Hypercalcemia, Infantile, 1 |
|
Nephrolithiasis, Polyuria, Vomiting, Hypercalciuria, Infantile hypercalcemia, Nephrocalcinosis |
OMIM:143880 |
Renal Tubular Acidosis, Distal, 1 |
|
Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c... |
OMIM:179800 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Nephrolithiasis, Hypocalciuria, Hypercalciuria, Hypercalcemia, Hypermagnesemia |
OMIM:145980 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Renal insuff... |
OMIM:134600 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Nephrolithiasis, Hypophosphatemic rickets, Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, M... |
ORPHA:157215 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Hypercalciuria, Absorptive, 2 |
|
Calcium oxalate nephrolithiasis, Hypercalciuria |
OMIM:143870 |
Dent Disease 1 |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemia, Aminoaciduria... |
OMIM:300009 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... |
OMIM:618913 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94090 |
Hypomagnesemia 2, Renal |
|
Hypomagnesemia, Hypokalemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting |
OMIM:154020 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Hypercalciuria, Hypercalcemia, Micropenis |
OMIM:614732 |
Hypomagnesemia 3, Renal |
|
Nephrolithiasis, Renal calcium wasting, Hypomagnesemia, Chronic kidney disease, Renal tubular aci... |
OMIM:248250 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Polyuria, Increased circulating renin level, Hypercalciuria, Hyponatremia, Medullary... |
OMIM:300971 |
Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Bicarbonate-was... |
ORPHA:3337 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Aminoaciduria, Glycosuria, Proteinuria, Hyperphosphaturia, Nephrocalcinosis, Hy... |
OMIM:616026 |
Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Constipation, Aminoaciduria, Polyuria, Hypercalciuria, Hypercalcemia, Calcinosi... |
OMIM:239200 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Nephrolithiasis, Renal calcium wasting, Hypomagnesemia, Chronic kidney disease, Recurrent urinary... |
OMIM:248190 |
Fanconi-Bickel Syndrome |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Glycosuria, Generalized aminoaciduria, ... |
OMIM:227810 |
Enamel-Renal Syndrome |
|
Impaired renal concentrating ability, Hypophosphaturia, Hypocalciuria, Nephropathy, Renal insuffi... |
ORPHA:1031 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased circulating renin level, Hypernatriuria, Decreased serum creatinine, Hyponatremia |
OMIM:300539 |
Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Hypokalemia, Hypocalcemia, Ami... |
ORPHA:411634 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemic rickets, Hypophosphatemia, Chronic kid... |
OMIM:300554 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Polyuria, Hypercalciuria, Decreased circulating renin level, Hyperaldosteronism |
OMIM:613677 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Dent Disease |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... |
ORPHA:1652 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia |
OMIM:612089 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Hypocalcemia, Cystinuria |
ORPHA:163693 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... |
OMIM:614817 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Medullary nephrocalcinosis, Hypophosphatemic rickets, Hyperphosphaturia |
OMIM:613312 |
Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Renal tubular acidosis, Glycosuria, Nephropathy, Hypercalciuria, Hypertriglycer... |
ORPHA:2088 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Polyuria, Diarrhea, Hyperphosphatemia, Vomiting |
OMIM:239350 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypophosp... |
OMIM:600740 |
Small Cell Carcinoma Of The Bladder |
|
Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia |
ORPHA:284400 |
Familial Hypocalciuric Hypercalcemia |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Renal hyp... |
ORPHA:405 |
Familial Hyperaldosteronism Type Iii |
|
Nausea, Hypokalemia, Hypercalciuria, Glucocortocoid-insensitive primary hyperaldosteronism |
ORPHA:251274 |
Hypophosphatasia, Infantile |
|
Constipation, Elevated plasma pyrophosphate, Vomiting, Phosphoethanolaminuria, Hypercalciuria, Hy... |
OMIM:241500 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Constipation, Increased urinary potassium, R... |
OMIM:601678 |
Alport Syndrome 3, Autosomal Dominant |
|
Hypophosphatemia, Nephrotic syndrome, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... |
OMIM:104200 |
Blue Diaper Syndrome |
|
Diarrhea, Hyperphosphatemia, Hypercalcemia, Nephrocalcinosis, Blue urine |
ORPHA:94086 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Elevated ... |
ORPHA:567544 |
Bartter Syndrome, Type 3 |
|
Hypokalemia, Increased urinary potassium, Polyuria, Hypocalciuria, Increased circulating renin le... |
OMIM:607364 |
Hypervitaminosis A, Susceptibility To |
|
Nausea, Renal insufficiency, Hypercalcemia |
OMIM:240150 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Hypophosphatemia, H... |
OMIM:241530 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Hypomagnesemia, Episodic hypokalemia, Renal potassium wasting, Nephrocalcinosis, Renal magnesium ... |
ORPHA:564178 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperprostaglandinuria, Hypomagnesemia, Hypocalcemia, Abnormal renal tubular resorption, Hypercal... |
ORPHA:73224 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypocalci... |
OMIM:145981 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Oliguria, Hyperphosphatemia, Renal insufficien... |
ORPHA:99845 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Elevated c... |
OMIM:614723 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalciuria, Hypercalcemia, Hyperphosphaturia, Nephrocalcinosis |
OMIM:156400 |
Bartter Syndrome Type 4 |
|
Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Impaired renal concentrating ability, Chroni... |
ORPHA:89938 |
Infantile Nephropathic Cystinosis |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Constipation, Glycosuria... |
ORPHA:411629 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Cystinosis |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Nephropathy, Vomiting, P... |
ORPHA:213 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Hypercalcemia |
ORPHA:2668 |
Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hyperphosphaturia, Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Distal Renal Tubular Acidosis |
|
Nephrolithiasis, Hypokalemia, Constipation, Aminoaciduria, Decreased glomerular filtration rate, ... |
ORPHA:18 |
Thrombotic Thrombocytopenic Purpura |
|
Diarrhea, Decreased serum creatinine, Hematuria, Renal insufficiency, Acute kidney injury, Protei... |
ORPHA:54057 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating 18-hydroxycortisone level, Increased circulating renin level, Hyponatremia,... |
OMIM:610600 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Hypomagnesemia, Hypokalemia, Polyuria, Hypocalciuria, Increased circulating renin level, Hyperald... |
OMIM:612780 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate |
OMIM:242530 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Hypophosphatemia, A... |
OMIM:307800 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Renal agenesis, Hypercalciuria, Mucopolysacchariduria, Hypercalcemia |
OMIM:618440 |
Uremic Pruritus |
|
Chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hyp... |
ORPHA:94059 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Calcium nephrolithiasis, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:36913 |
Proximal Renal Tubular Acidosis |
|
Nephrolithiasis, Hypokalemia, Aminoaciduria, Hyperuricosuria, Diarrhea, Glycosuria, Vomiting, Glo... |
ORPHA:47159 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Diarrhea, Vomiting, Oliguria, Abnorm... |
ORPHA:31824 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinuria, Hydroxyprolinemia, Hypercalciuria, Hyperphosphatemia, Hyperuricemia, Increased... |
OMIM:239000 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia |
ORPHA:172 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia |
ORPHA:33111 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Constipation, Increased urinary potassium, R... |
OMIM:241200 |
Fructose Intolerance, Hereditary |
|
Hypophosphatemia, Transient aminoaciduria, Hyperbilirubinemia, Hyperuricosuria, Proximal renal tu... |
OMIM:229600 |
Hyperparathyroidism 4 |
|
Nephrolithiasis, Hypercalcemia |
OMIM:617343 |
Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Nephrolithiasis, Hypocalcemia, Cystinuria |
OMIM:606407 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium wasting, Renal magnesium wasting |
OMIM:618314 |
Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hyperphosphatemia, Hypermagnesiuria, Nephrocalcinosis |
ORPHA:428 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Diarrhea, Vomiting, Hyponatremia, Hyperaldosteronism, Hyperkalemia, Renal salt wasting |
OMIM:264350 |
Nephronophthisis-Like Nephropathy 2 |
|
Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Renal insuffici... |
OMIM:619468 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Low urinary cyclic A... |
ORPHA:94089 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
C3 Glomerulopathy |
|
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... |
ORPHA:329918 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypomagnesemia, Constipation, Stage 3 chronic kidney ... |
OMIM:619743 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia, Nephropathy |
ORPHA:2238 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:145600 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
Hereditary Fructose Intolerance |
|
Chronic kidney disease, Hypophosphatemia, Constipation, Diarrhea, Vomiting, Nausea, Renal insuffi... |
ORPHA:469 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Corticosterone Methyloxidase Type I Deficiency |
|
Vomiting, Increased circulating renin level, Hyponatremia, Hyperkalemia, Renal salt wasting |
OMIM:203400 |
East Syndrome |
|
Hypomagnesemia, Hypokalemia, Abnormal urinary electrolyte concentration, Increased circulating re... |
ORPHA:199343 |
Late-Onset Familial Hypoaldosteronism |
|
Elevated serum 11-deoxycortisol, Vomiting, Increased circulating renin level, Hyponatremia, Renal... |
ORPHA:556037 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Elevated circulating creatinine con... |
ORPHA:79233 |
Linear Verrucous Nevus Syndrome |
|
Abnormality of the kidney, Hypophosphatemia |
ORPHA:2611 |
Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Abnormal renal physiology, Hematuria, Elevated circulating creatinine con... |
OMIM:123550 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612925 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Polyuria, Renal dysplasia, Hematochezia, Hypertriglyceridemia, Hypo... |
OMIM:618183 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrolithiasis, Hypophosphatemia, Constipation, Nephroblastoma, Hypercalciuria, Renal cyst, Rena... |
ORPHA:99880 |
Cystinosis, Nephropathic |
|
Exocrine pancreatic insufficiency, Glycosuria, Hematuria, Proteinuria, Stage 5 chronic kidney dis... |
OMIM:219800 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612926 |
Glucose-Galactose Malabsorption |
|
Nephrolithiasis, Diarrhea, Hematuria, Hypernatremia, Vomiting, Renal insufficiency, Hypercalcemia |
ORPHA:35710 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612922 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Chronic diarrhea |
ORPHA:398063 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Vomiting, Renal Fanconi syndrome, Proteinur... |
ORPHA:436271 |
Parathyroid Carcinoma |
|
Nephrolithiasis, Hypophosphatemia, Constipation, Nephroblastoma, Hypercalciuria, Renal cyst, Rena... |
ORPHA:143 |
Helix Syndrome |
|
Nephrolithiasis, Hypokalemia, Polyuria, Hypocalciuria, Xerostomia, Renal insufficiency, Hypermagn... |
OMIM:617671 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Early-Onset Familial Hypoaldosteronism |
|
Elevated serum 11-deoxycortisol, Vomiting, Increased circulating renin level, Hyponatremia, Renal... |
ORPHA:556030 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Renal salt wasting |
OMIM:614736 |
Ring Chromosome 10 Syndrome |
|
Renal hypoplasia/aplasia, Hypocalcemia |
ORPHA:1438 |
Preeclampsia |
|
Chronic kidney disease, Abnormality of the kidney, Elevated circulating creatinine concentration,... |
ORPHA:275555 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium, Polyuria, Hyperna... |
OMIM:613090 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia, Nephropathy, Renal insufficiency |
ORPHA:1563 |
Tubulointerstitial Nephritis With Uveitis |
|
Glomerulonephritis, Elevated circulating creatinine concentration, Acute tubulointerstitial nephr... |
OMIM:607665 |
Wilson Disease |
|
Renal tubular dysfunction, Nephrolithiasis, Increased circulating copper concentration, Hyperbili... |
OMIM:277900 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Diarrhea, Xerostomia, Vomiting, Hematochezia |
OMIM:175500 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Micropenis |
OMIM:241410 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Hypophosphaturia, Hypocalciuria |
ORPHA:73223 |
Cholera |
|
Hypokalemia, Hypocalcemia, Abnormality of renal excretion, Diarrhea, Vomiting, Abnormal blood ion... |
ORPHA:173 |
Oculocerebrodental Syndrome |
|
Hypocalcemia, Nephrocalcinosis, Hypercalcemia |
ORPHA:557003 |
Gitelman Syndrome |
|
Hypomagnesemia, Hypokalemia, Constipation, Polyuria, Hypocalciuria, Nocturia, Vomiting, Increased... |
OMIM:263800 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Nephrolithiasis, Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Hypophosphatemic Rickets |
|
Renal phosphate wasting, Hypophosphatemia, Hypocalciuria, Hypercalciuria, Renal insufficiency, Hy... |
ORPHA:437 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hyperphosphaturia, Hypophosphatemic rickets, Horseshoe kidney |
OMIM:163200 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Myoglobinuria, ... |
ORPHA:94093 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria, Hypophosphatemia, Hypocalcemic seizures |
OMIM:264700 |
Diffuse Neonatal Hemangiomatosis |
|
Renal hypoplasia/aplasia, Renal insufficiency, Hypercalcemia |
ORPHA:2123 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Proteinuria, Hyponatrem... |
OMIM:613845 |
Mccune-Albright Syndrome |
|
Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemia, Gastroesophageal reflux, In... |
ORPHA:562 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Proteinuria, Hyperp... |
OMIM:220110 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... |
OMIM:145001 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, Reduced renal corti... |
OMIM:602522 |
Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Renal salt wasting |
OMIM:201710 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:289157 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Non-Functioning Paraganglioma |
|
Elevated urinary dopamine, Hematuria, Nausea, Hypercalcemia, Elevated urinary epinephrine, Elevat... |
ORPHA:94080 |
Primary Hyperoxaluria |
|
Chronic kidney disease, Calcium oxalate nephrolithiasis, Hematuria, Hypercalciuria, Aciduria, Hyp... |
ORPHA:416 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Renal cyst, Nephrocalcinosis, Ureteral stenosis, Hypercalciuria |
OMIM:615398 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154275 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephrotic syndrome, Gastroesophageal reflux, Renal tubular atrophy, Decreased glomerular filtrati... |
ORPHA:85450 |
Pearson Marrow-Pancreas Syndrome |
|
Exocrine pancreatic insufficiency, Hyperbilirubinemia, 3-Methylglutaric aciduria, Steatorrhea, Vo... |
OMIM:557000 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Hypophosphatemic rickets, Abnormality of renal excretion, Renal hypophos... |
ORPHA:289176 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Gastroesophageal reflux, Congenital megaureter, Abnormality of the urinary system, Hypercalciuria... |
ORPHA:369837 |
Rhabdoid Tumor |
|
Renal neoplasm, Hematuria, Hypercalcemia |
ORPHA:69077 |
Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Peritonitis, Recurrent urinary tract infections, Elevated circulating creatine kina... |
ORPHA:36234 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Chronic kidney disease, Elevated creatine kinase after exercise, Acute kidney injury, Hypercalcem... |
ORPHA:284426 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154276 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
Sanjad-Sakati Syndrome |
|
Intestinal obstruction, Hypocalcemia, Hyperphosphatemia, Hypoplasia of penis |
ORPHA:2323 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration |
OMIM:612462 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Episodic vomiting, Elevated circulating guanidinoacetic acid concentration, Decreased serum creat... |
OMIM:612736 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Calciphylaxis |
|
Hyperphosphatemia, Stage 5 chronic kidney disease |
ORPHA:280062 |
Multiple Endocrine Neoplasia Type 2 |
|
Nephrolithiasis, Constipation, Elevated urinary vanillylmandelic acid, Elevated urinary catechola... |
ORPHA:653 |
Ethylene Glycol Poisoning |
|
Renal tubular dysfunction, Hypocalcemia, Gastritis, Hematuria, Vomiting, Nausea, Renal insufficie... |
ORPHA:31826 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine |
OMIM:171420 |
Familial Hypoaldosteronism |
|
Proximal renal tubular acidosis, Diarrhea, Increased circulating renin level, Hyponatremia, Decre... |
ORPHA:427 |
Albers-Schönberg Osteopetrosis |
|
Hypocalcemia |
ORPHA:53 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypocystinemia |
OMIM:617744 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration... |
ORPHA:26793 |
X-Linked Agammaglobulinemia |
|
Hypocalcemia, Chronic diarrhea |
ORPHA:47 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Hypocalcemia |
OMIM:244460 |
Thyrotoxic Periodic Paralysis |
|
Hypomagnesemia, Constipation, Episodic hypokalemia, Mildly elevated creatine kinase, Urinary rete... |
ORPHA:79102 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypospadias, Hypocalcemia, Micropenis |
OMIM:607143 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated alpha-fetoprotein, Recurrent urinary tract infections, Multiple renal cysts... |
OMIM:613095 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Decreased renal tubular phosphate excretion, Increased renal tubular phosphate reabsorption, Hype... |
OMIM:211900 |
Lowe Oculocerebrorenal Syndrome |
|
Constipation, Aminoaciduria, Proximal renal tubular acidosis, Renal Fanconi syndrome, Bicarbonatu... |
OMIM:309000 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia |
OMIM:600081 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Abnormality of circulating cortisol level, Abnormal urine sodium concentration, Rena... |
ORPHA:320 |
Gitelman Syndrome |
|
Hypomagnesemia, Hypocalcemia, Hypokalemia, Renal tubular acidosis, Constipation, Diarrhea, Noctur... |
ORPHA:358 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Abnormal renal corticomedullary differentiation, Elevated circulating creatinine concentration, R... |
OMIM:616733 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypophosphatemia, Hypocalcemic seizures |
OMIM:277440 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration |
OMIM:103580 |
Oculocerebrorenal Syndrome Of Lowe |
|
Nephrolithiasis, Hypophosphatemia, Hypokalemia, Oligosacchariduria, Aminoaciduria, Gastroesophage... |
ORPHA:534 |
Gracile Bone Dysplasia |
|
Hypocalcemia, Micropenis |
OMIM:602361 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Chronic diarrhea |
ORPHA:90362 |
Pearson Syndrome |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Lacticaciduria, Steatorrhea, Exocrin... |
ORPHA:699 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Ileus, Hypomagnesemia, Hypocalcemia, Nephrotic syndrome, Gastritis, Colitis, Decreased prealbumin... |
ORPHA:37042 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Low urin... |
ORPHA:79444 |
Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... |
OMIM:266900 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Abnormality of the urinary system, Diarrhe... |
ORPHA:91547 |
Opsismodysplasia |
|
Renal phosphate wasting, Hypophosphatemia |
OMIM:258480 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemia, Unilateral renal agenesis, Renal dysplasia, Polycystic kidney dysplasia, Renal insu... |
ORPHA:2237 |
Infection-Related Hemolytic Uremic Syndrome |
|
Acute colitis, Bloody diarrhea, Hypocalcemia, Nephrotic range proteinuria, Diarrhea, Hyperkalemia... |
ORPHA:544482 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Increased blood urea nitrogen, Diarrhea, Elevated circulating creatinine concentr... |
OMIM:235400 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentration, Renal hypopl... |
OMIM:614376 |
Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Increased urinary potassium, Nausea, Decreased circulating renin level, Glucocortoco... |
ORPHA:231580 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Hydronephrosis, Hypoproteinemia, Micropenis |
OMIM:235255 |
Adrenocortical Hypofunction, Chronic Primary Congenital |
|
Decreased circulating cortisol level, Hypernatriuria |
OMIM:103230 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Increased circulating cortisol level, Increased urinary potassium, Nausea, Decreased... |
ORPHA:231625 |
Acute Adrenal Insufficiency |
|
Constipation, Decreased circulating cortisol level, Diarrhea, Increased circulating renin level, ... |
ORPHA:95409 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Macroscopic hematuria, Membranoproliferative glomerulonephritis, E... |
ORPHA:251004 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Elevated urinary dopamine, Hematuria, Nausea, Proteinuria, Hypercalcemia, Elevated urinary epinep... |
ORPHA:276621 |
Celiac Disease, Susceptibility To, 1 |
|
Hypocalcemia, Steatorrhea, Diarrhea, Vomiting, Stomatitis, Recurrent aphthous stomatitis |
OMIM:212750 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration, Hyperechogenic kidneys |
OMIM:619111 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Abnormal renal physiology, Elevated circulating creatinine concent... |
OMIM:274150 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
X-Linked Hypophosphatemia |
|
Renal phosphate wasting, Hypophosphatemia, Hypocalciuria |
ORPHA:89936 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Hyperaldosteronism, Renal salt wasting |
OMIM:613743 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Hyperphosphatemia |
OMIM:614207 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Oligomeganephronia |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesis, Bilateral... |
ORPHA:2260 |
Aapoaiv Amyloidosis |
|
Chronic kidney disease, Hyperlipidemia, Abnormal renal medulla morphology, Renal interstitial amy... |
ORPHA:439232 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hypocalcemia |
OMIM:259700 |
Pseudohypoparathyroidism Type 1A |
|
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Low urin... |
ORPHA:79443 |
MĂĽllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypocalcemia, Hypoproteinemia, Micropenis, Abnormal renal morphology, Hydronephrosis |
ORPHA:1655 |
Familial Glucocorticoid Deficiency |
|
Constipation, Decreased circulating cortisol level, Recurrent urinary tract infections, Diarrhea,... |
ORPHA:361 |
Infantile Myofibromatosis |
|
Intestinal obstruction, Abnormality of the kidney, Hypercalcemia |
ORPHA:2591 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Constipation, Decreased HDL cholesterol concentration, Decreased serum creatinine, Hypotriglyceri... |
OMIM:618885 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute colitis, Bloody diarrhea, Hypokalemia, Hemoglobinuria, Peritonitis, Diarrhea, Vomiting, Ele... |
ORPHA:90038 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Vomiting, Oliguria, Nausea, Hyp... |
ORPHA:466650 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hyperbilirubinemia, Diarrhea, Vomiting, Elevated circulating creatinine concentration, Nausea, Ac... |
ORPHA:542323 |
Hemorrhagic Fever-Renal Syndrome |
|
Melena, Chronic kidney disease, Hematemesis, Decreased glomerular filtration rate, Diarrhea, Glom... |
ORPHA:340 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hyponatremia, Renal salt wasting |
OMIM:300200 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Myoglobinuria, Hyperphosphatemia, Acute kidney injury, H... |
ORPHA:423 |
Leprechaunism |
|
Hypokalemia, Hypercalciuria, Long penis, Increased circulating renin level, Enlarged kidney, Hype... |
ORPHA:508 |
Multiple Endocrine Neoplasia Type 1 |
|
Nephrolithiasis, Melena, Constipation, Gastroesophageal reflux, Hematemesis, Increased circulatin... |
ORPHA:652 |
Papillorenal Syndrome |
|
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi... |
OMIM:120330 |
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
|
Exocrine pancreatic insufficiency, Gastritis, Hypospadias, Microscopic nephrocalcinosis, Meconium... |
OMIM:219721 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long-chain dicarboxylic aciduria, Elevated circulating long chain fatty acid concentration, Hyper... |
OMIM:608836 |
Pheochromocytoma |
|
Elevated urinary norepinephrine, Proteinuria, Hypercalcemia, Renal artery stenosis |
OMIM:171300 |
Double Outlet Right Ventricle |
|
Hypocalcemia |
ORPHA:3426 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Elevated urinary dopamine, Hematuria, Renal cell carcinoma, Nausea, Proteinuria, Hypercalcemia, E... |
ORPHA:29072 |
Thymic Neuroendocrine Tumor |
|
Increased circulating cortisol level, Hypercalcemia, Calcium nephrolithiasis |
ORPHA:97289 |
Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
Fibrous Dysplasia Of Bone |
|
Hypophosphatemia, Hypercalcemia, Increased circulating cortisol level |
ORPHA:249 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia |
ORPHA:746 |
Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Decreased glomerular filtration rate, Macroscopic hematuria, Glomeru... |
ORPHA:93126 |
Igg4-Related Retroperitoneal Fibrosis |
|
Dysuria, Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Increased blo... |
ORPHA:49041 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Constipation, Increased blood urea nitrogen, Gastroesophageal reflux, Abnormal renal physiology, ... |
OMIM:223900 |
Raine Syndrome |
|
Hydroureter, Hypophosphatemia, Hydronephrosis |
OMIM:259775 |
Cystic Fibrosis |
|
Ileus, Exocrine pancreatic insufficiency, Steatorrhea, Meconium ileus, Diarrhea, Hypercalciuria |
OMIM:219700 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Renal salt wasting |
OMIM:201910 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration, Hematuria, Proteinuria |
ORPHA:90060 |
Renal Cysts And Diabetes Syndrome |
|
Nephrolithiasis, Exocrine pancreatic insufficiency, Unilateral renal agenesis, Abnormality of the... |
OMIM:137920 |
Dopamine Beta-Hydroxylase Deficiency |
|
Increased blood urea nitrogen, Elevated urinary dopamine, Diarrhea, Nocturia, Vomiting, Elevated ... |
ORPHA:230 |
Multiple Myeloma |
|
Nephrotic syndrome, Hyperproteinemia, Nephropathy, Elevated circulating creatinine concentration,... |
ORPHA:29073 |
Cranioectodermal Dysplasia 1 |
|
Chronic kidney disease, Hypocalcemia, Stage 1 chronic kidney disease, Tubulointerstitial nephriti... |
OMIM:218330 |
Addison Disease |
|
Constipation, Decreased circulating cortisol level, Diarrhea, Increased circulating renin level, ... |
ORPHA:85138 |
Igg4-Related Thyroid Disease |
|
Dysphagia, Hypocalcemia |
ORPHA:64744 |
Paget Disease Of Bone 2, Early-Onset |
|
Hydroxyprolinuria, Hypercalcemia |
OMIM:602080 |
Osteopetrosis With Renal Tubular Acidosis |
|
Nephrolithiasis, Hypocalcemia, Renal tubular acidosis, Proximal renal tubular acidosis, Elevated ... |
ORPHA:2785 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Diarrhea, Vomiting, Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Nephrocalcinosis, Hypercalciuria, Renal dysplasia |
OMIM:300990 |
Cartilage-Hair Hypoplasia |
|
Hypocalcemia, Mucopolysacchariduria |
ORPHA:175 |
Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Exocrine pancreatic insufficiency, Congenital megaureter, Elevated alpha-fetopro... |
ORPHA:116 |
Craniofacioskeletal Syndrome |
|
Hypospadias, Hypocalcemia, Hydronephrosis |
OMIM:300712 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia, Micropenis, Hypospadias, Hydronephrosis |
ORPHA:163979 |
Visceral Steatosis, Congenital |
|
Renal steatosis, Hypocalcemia |
OMIM:228100 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Chronic gastritis, Exocrine pancreatic insufficienc... |
OMIM:619991 |
Williams Syndrome |
|
Constipation, Proteinuria, Nephrolithiasis, Bladder diverticulum, Hypoplasia of penis, Abnormal c... |
ORPHA:904 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Hypospadias, Vomiting, Increased circulating renin level, P... |
ORPHA:90791 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Williams-Beuren Syndrome |
|
Bladder diverticulum, Gastroesophageal reflux, Constipation, Micropenis, Recurrent urinary tract ... |
OMIM:194050 |
Senior-Boichis Syndrome |
|
Renal atrophy, Chronic kidney disease, Reduced renal corticomedullary differentiation, Hyperechog... |
ORPHA:84081 |
46,Xy Sex Reversal 4 |
|
Increased blood urea nitrogen, Renal dysplasia, Ureteropelvic junction obstruction, Elevated circ... |
OMIM:154230 |
Zollinger-Ellison Syndrome |
|
Increased circulating cortisol level, Diarrhea, Hematochezia, Intestinal obstruction, Nausea, Hyp... |
ORPHA:913 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal penis morphology, Hyperphosphatemia |
ORPHA:457059 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hypospadias, Hypocalcemia, Hyperphosphatemia |
ORPHA:280651 |
Sarcoidosis |
|
Nephrolithiasis, Hypercalciuria, Tubulointerstitial nephritis, Renal insufficiency, Hypercalcemia... |
ORPHA:797 |
Late-Onset Isolated Acth Deficiency |
|
Constipation, Decreased circulating cortisol level, Diarrhea, Hyponatremia, Hypercalcemia, Hyperu... |
ORPHA:199299 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypocalcemia, Gastroesophageal reflux, Recurrent urinary tract infections, Vomiting, Unconjugated... |
OMIM:613658 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Nephropathy, Elevated circulating creatinine concentration, Proteinuria, Gastrointestinal hemorrh... |
ORPHA:247691 |
22Q11.2 Deletion Syndrome |
|
Hypocalcemia, Gastroesophageal reflux, Constipation, Hypospadias, Multiple renal cysts, Polycysti... |
ORPHA:567 |
Lysosomal Acid Lipase Deficiency |
|
Steatorrhea, Diarrhea, Abnormal urine potassium concentration, Vomiting, Hypertriglyceridemia, Hy... |
ORPHA:275761 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:667 |
Velocardiofacial Syndrome |
|
Hypocalcemia |
OMIM:192430 |
Osteogenesis Imperfecta |
|
Nephrolithiasis, Constipation, Hypercalciuria, Intestinal obstruction, Dysphagia |
ORPHA:666 |
Hennekam Syndrome |
|
Hypocalcemia, Horseshoe kidney, Ectopic kidney |
ORPHA:2136 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating cortisol level, Increased urinary 11-deoxycorticosterone level... |
ORPHA:90795 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Midshaft hypospadias, Decreased circulating cortisol level, Abnormal ur... |
ORPHA:168558 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Chronic constipation, Hypercalcemia, Urinary incontinence |
ORPHA:476126 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Midshaft hypospadias, Decreased circulating cortisol level, Abnormal ur... |
ORPHA:289548 |
Igg4-Related Kidney Disease |
|
Chronic kidney disease, Abnormal ureter morphology, Elevated circulating C-reactive protein conce... |
ORPHA:449395 |
Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Hypercalciuria |
OMIM:181000 |
Multiple Endocrine Neoplasia, Type I |
|
Esophagitis, Diarrhea, Hypercalcemia, Increased circulating cortisol level |
OMIM:131100 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Mastocytosis |
|
Gastrointestinal hemorrhage, Diarrhea, Hypercalcemia |
ORPHA:98292 |
Thymic Aplasia |
|
Diarrhea, Hypocalcemic tetany, Recurrent urinary tract infections |
ORPHA:83471 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Unilateral renal agenesis, Hyperphosphatemia |
OMIM:101800 |
Monosomy 13Q34 |
|
Fetal pyelectasis, Infantile hypercalcemia, Hematochezia |
ORPHA:96168 |
Generalized Arterial Calcification Of Infancy |
|
Hypophosphatemic rickets, Medullary nephrocalcinosis, Vomiting, Hyperphosphaturia, Cortical nephr... |
ORPHA:51608 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Renal angiomyolipoma, Diarrhea, Hypercalcemia, Esophagitis,... |
ORPHA:276152 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Ppoma |
|
Constipation, Increased circulating cortisol level, Diarrhea, Intestinal obstruction, Hypercalcem... |
ORPHA:97278 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
Somatostatinoma |
|
Constipation, Increased circulating cortisol level, Steatorrhea, Diarrhea, Intestinal obstruction... |
ORPHA:97283 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal cyst, Elevated circulating creatinine concentration, Renal insufficiency |
OMIM:617478 |
Glucagonoma |
|
Constipation, Increased circulating cortisol level, Steatorrhea, Diarrhea, Intestinal obstruction... |
ORPHA:97280 |
Digeorge Syndrome |
|
Hypocalcemia, Gastroesophageal reflux, Unilateral renal agenesis, Renal dysplasia, Renal insuffic... |
OMIM:188400 |
Gaisböck Syndrome |
|
Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hypernatriuria, Hyperu... |
ORPHA:90041 |
Grfoma |
|
Constipation, Increased circulating cortisol level, Diarrhea, Intestinal obstruction, Hypercalcem... |
ORPHA:97261 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hypomagnesemia, Hypocalcemia, Micropenis, Unilateral renal agenesis, Urinary urgency, Dysphagia, ... |
OMIM:619503 |
Cardiogenic Shock |
|
Oliguria, Elevated circulating creatinine concentration |
ORPHA:97292 |
Vipoma |
|
Hypokalemia, Secretory diarrhea, Hypercalcemia, Increased circulating cortisol level |
ORPHA:97282 |
Johanson-Blizzard Syndrome |
|
Exocrine pancreatic insufficiency, Hypocalcemia, Micropenis, Hypospadias, Increased VLDL choleste... |
OMIM:243800 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal lymphocytic tubulitis, Elevated circulating C-reactive protein concentration, Aminoaciduria... |
ORPHA:91500 |
Hepatocellular Carcinoma |
|
Hypokalemia, Hyperbilirubinemia, Diarrhea, Hypoalbuminemia, Hypercalcemia, Hyponatremia |
ORPHA:88673 |
Marburg Hemorrhagic Fever |
|
Bloody diarrhea, Hypokalemia, Hyperammonemia, Elevated circulating creatine kinase concentration,... |
ORPHA:99826 |
Charge Syndrome |
|
Hypocalcemia, Micropenis, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Hydronephrosis, Dys... |
OMIM:214800 |
Yellow Fever |
|
Hyperbilirubinemia, Hematemesis, Elevated circulating creatine kinase concentration, Diarrhea, Vo... |
ORPHA:99829 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Urogenital sinus anomaly, Decreased circulating cortisol level, Vomiting, Long penis, Hypernatriu... |
ORPHA:90794 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Increased circulating ferritin concentration, Dark urine, Gastroesophageal reflux, Hyperbilirubin... |
OMIM:619534 |
Sotos Syndrome |
|
Gastroesophageal reflux, Constipation, Renal agenesis, Abnormality of the kidney, Hypospadias, Ur... |
ORPHA:821 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hypocalcemic seizures |
OMIM:612301 |
Pulmonary Alveolar Microlithiasis |
|
Increased circulating surfactant protein level, Hematuria, Calcium nephrolithiasis |
ORPHA:60025 |
Pulmonary Alveolar Microlithiasis |
|
|
OMIM:265100 |