Bartter Syndrome, Type 3 |
|
Hyperactive renin-angiotensin system, Hypokalemia, Increased urinary potassium, Polyuria, Hypocal... |
OMIM:607364 |
Familial Hypoaldosteronism |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Proximal renal tubular acidosis, ... |
ORPHA:427 |
Late-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Orthostatic hypotension, Elevated serum 11-deoxycortisol... |
ORPHA:556037 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Decreased circulating aldosterone level, Orthostatic hypotension, Increased circulating 18-hydrox... |
OMIM:610600 |
Corticosterone Methyloxidase Type I Deficiency |
|
Decreased circulating aldosterone level, Increased circulating renin level, Hypotension, Hyponatr... |
OMIM:203400 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Renal juxtaglomerular cell hypertro... |
OMIM:601678 |
Early-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Orthostatic hypotension, Elevated serum 11-deoxycortisol... |
ORPHA:556030 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Polyuria, Hypercalciuria, Increased circulating renin level, Hyponatremia, Medullary... |
OMIM:300971 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Decreased circulating parathyroid hormone level, Hypomagnesemia, Hypokalemia, Hy... |
OMIM:601198 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium, Polyuria, Hyperna... |
OMIM:613090 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, Reduced renal corti... |
OMIM:602522 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Alkalosis, Polyuria, Hypokalemia, Hydronephrosis |
OMIM:304900 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Increa... |
OMIM:241200 |
Hypomagnesemia 3, Renal |
|
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Hypomagnesemia, Renal tubular aci... |
OMIM:248250 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Hypokalemia, Short stature, Metabolic acidosis, Proximal renal tubular acidosis, Decreased serum ... |
OMIM:604278 |
Nephrogenic Diabetes Insipidus |
|
Nephrogenic diabetes insipidus, Short stature, Hypovolemia, Hyposthenuria, Hydroureter, Hypernatr... |
ORPHA:223 |
Bartter Syndrome Type 4 |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Impaired renal concentrating abilit... |
ORPHA:89938 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Metabolic acidosis, Hypercalciuria, Distal renal tubular acidosis, Growth delay, Nep... |
OMIM:602722 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level, Abnorma... |
ORPHA:2843 |
Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... |
OMIM:616963 |
Distal Renal Tubular Acidosis |
|
Hyperchloremic metabolic acidosis, Nephrolithiasis, Growth delay, Hypokalemia, Aminoaciduria, Dec... |
ORPHA:18 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperprostaglandinuria, Hypomagnesemia, Hypocalcemia, Abnormal renal tubular resorption, Hypokale... |
ORPHA:73224 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Hypomagnesemia, Episodic hypokalemia, Renal potassium wasting, Nephrocalcinosis, Renal magnesium ... |
ORPHA:564178 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Acidosis, Hypophosphatemia, Aminoaciduria, Hypokalemia, Short stature,... |
OMIM:134600 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Hypomagnesemia, Recurrent urinary... |
OMIM:248190 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypovolemia, Arrhythmia, Cardiogenic... |
ORPHA:31824 |
Juvenile Nephropathic Cystinosis |
|
Glycosuria, Elevated circulating creatinine concentration, Proteinuria, Proximal tubulopathy, Sta... |
ORPHA:411634 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Abnormal magnesium concentration, Increased circulating renin level, Proximal tubulo... |
OMIM:241150 |
Acute Adrenal Insufficiency |
|
Decreased circulating aldosterone level, Decreased circulating cortisol level, Orthostatic hypote... |
ORPHA:95409 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hyperchloremic metabolic acidosis, Hypokalemia, Short stature, Metabolic acidosis, Distal renal t... |
OMIM:611590 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Elevated systolic blood pressure, Decreased serum creatinine, Hypernatriuria, Hyponatremia, Decre... |
OMIM:300539 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium wasting, Renal magnesium wasting |
OMIM:618314 |
Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
Gitelman Syndrome |
|
Hypomagnesemia, Hypokalemia, Polyuria, Hypocalciuria, Nocturia, Palpitations, Increased circulati... |
OMIM:263800 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Hypomagnesemia, Hypokalemia, Short stature, Polyuria, Hypocalciuria, Increased circulating renin ... |
OMIM:612780 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Hypomagnesemia, Polyuria, Hypochloremic metabolic alkalosis, Hyperechogen... |
OMIM:613845 |
Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... |
OMIM:619902 |
Proximal Renal Tubular Acidosis |
|
Nephrolithiasis, Growth delay, Hypokalemia, Aminoaciduria, Mild postnatal growth retardation, Sho... |
ORPHA:47159 |
East Syndrome |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Renal magnesium wasting, Renal so... |
ORPHA:199343 |
Apparent Mineralocorticoid Excess |
|
Intrauterine growth retardation, Decreased circulating aldosterone level, Hypokalemia, Short stat... |
ORPHA:320 |
Renal Tubular Acidosis, Distal, 1 |
|
Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c... |
OMIM:179800 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Polyuria, Hypercalciuria, Adrenal hyperplasia, Decreased circulating renin level, Hy... |
OMIM:613677 |
Liddle Syndrome |
|
Hypokalemia, Nephropathy, Arrhythmia, Cerebral ischemia, Renal insufficiency, Hypertension |
ORPHA:526 |
Liddle Syndrome 1 |
|
Hypokalemia, Metabolic alkalosis, Hypokalemic alkalosis, Renal insufficiency, Decreased circulati... |
OMIM:177200 |
Hypomagnesemia 2, Renal |
|
Hypomagnesemia, Hypokalemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting |
OMIM:154020 |
Hypercalcemia, Infantile, 1 |
|
Nephrolithiasis, Aortic valve stenosis, Pulmonic stenosis, Polyuria, Hypercalciuria, Infantile hy... |
OMIM:143880 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Ketonuria, Hyperammonemia, Metabolic acidosis, Increased serum lactate, Ketoacidosis, Respiratory... |
OMIM:615751 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperactive renin-angiotensin system, Hypotension, Increased circulating renin level, Hyperaldost... |
OMIM:177735 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Myoglobinuria, Elevated circulating creatine kinase concentration, Hypotension, Hype... |
OMIM:145600 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... |
OMIM:232700 |
Gaisböck Syndrome |
|
Angina pectoris, Peripheral arterial stenosis, Hypovolemia, Hyperproteinemia, Increased circulati... |
ORPHA:90041 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Increased cir... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Increased cir... |
ORPHA:289548 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Increa... |
OMIM:619868 |
Type 1 Diabetes Mellitus |
|
Ketoacidosis, Polyuria, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Acidosis, Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobu... |
OMIM:137950 |
Nephronophthisis-Like Nephropathy 2 |
|
Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Renal insuffici... |
OMIM:619468 |
Fanconi-Bickel Syndrome |
|
Renal tubular dysfunction, Acidosis, Hypophosphatemia, Hypokalemia, Glycosuria, Generalized amino... |
OMIM:227810 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperactive renin-angiotensin system, Hypotension, Hyperaldosteronism, Hyponatremia, Pseudohypoal... |
OMIM:264350 |
Senior-Loken Syndrome 4 |
|
Polyuria, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:606996 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... |
OMIM:256100 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... |
OMIM:616828 |
Congenital Primary Megaureter |
|
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... |
ORPHA:617 |
Renal Tubular Acidosis Iii |
|
Nephrolithiasis, Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis |
OMIM:267200 |
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Urinary urgency, Hypotension, Urinary incontinence |
OMIM:156310 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Abnormal T-wave, Neoplasm of the adrenal gland, Increased urinary potassium, Increas... |
ORPHA:231625 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... |
ORPHA:90791 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Short stature, Hyposthenuria, Glycosuria,... |
OMIM:308990 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Abnormal response to ... |
ORPHA:90794 |
Cocaine Intoxication |
|
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... |
ORPHA:90068 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Increased serum lactate, Nephrotic syndrome, Proteinuria |
OMIM:614652 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Primary amenorrhea, Hypertriglyceri... |
OMIM:612526 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
Microvillus Inclusion Disease |
|
Hypovolemia, Nephrocalcinosis, Abnormal renal physiology |
ORPHA:2290 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Cholestasis, Hepatocellular adenoma, Esophageal varix, Polycystic ovaries, Portal f... |
ORPHA:370 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, Metabolic acidosis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, ... |
OMIM:614723 |
Preeclampsia |
|
Abnormality of the hepatic vasculature, Chronic kidney disease, Abnormality of the kidney, Helico... |
ORPHA:275555 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Adrenal calcification, Hypertriglyceridem... |
ORPHA:75234 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperactive renin-angiotensin system, Hypokalemia, Hyponatremia, Growth delay, Hyperaldosteronism... |
OMIM:214700 |
Primary Fanconi Renotubular Syndrome |
|
Hyperchloremic metabolic acidosis, Renal phosphate wasting, Chronic kidney disease, Hypophosphate... |
ORPHA:3337 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Pul... |
ORPHA:567548 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Polyuria, Hyperphosphatemia |
OMIM:239350 |
Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Increased urinary potassium, Palpitations, Adrenal hyperplasia, Decreased circulatin... |
ORPHA:231580 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Enlarged kidn... |
OMIM:208540 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center |
OMIM:235550 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Decreased glomerular filtration rate, Renal interstitial amyloid deposits, Elevated... |
ORPHA:85450 |
Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypermagnesiuria, Hyperphosphatemia, Nephrocalcinosis |
ORPHA:428 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hypovolemic shock, Glucocortocoid-insensitive primary hyperaldosteronism, Arrhythmia, Increased c... |
ORPHA:171876 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... |
OMIM:306000 |
Cystinosis |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Short stature, Nephropat... |
ORPHA:213 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... |
OMIM:232220 |
Renal Glucosuria |
|
Polyuria, Glycosuria, Enuresis nocturna |
OMIM:233100 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Hypovolemia, Abnormal urine potassium concentration, Hypotension, Hypertri... |
ORPHA:275761 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... |
OMIM:617805 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Steatorrhea, Hepatic failure, Elevated circulating aspartate aminotransferase conce... |
OMIM:278000 |
Aa Amyloidosis |
|
Adrenal insufficiency, Chronic kidney disease, Nephrotic syndrome, Abnormality of the kidney, Nep... |
ORPHA:85445 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, T lymphocytopenia, Abnormal heart morphology |
DECIPHER:16 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL ch... |
OMIM:615703 |
Burkitt Lymphoma |
|
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Intestina... |
ORPHA:543 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Cholestasis, Hepatocellular adenoma, Esophageal varix, Polycystic ovaries, Portal f... |
ORPHA:264580 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Hypokalemia, Precocious puberty, Short stature, Decreased cir... |
ORPHA:90795 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Growth delay, Ren... |
OMIM:606966 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... |
ORPHA:231111 |
Tyrosinemia, Type I |
|
Melena, Hepatomegaly, Hepatic failure, Enlarged kidney, Hypermethioninemia, Gastrointestinal hemo... |
OMIM:276700 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... |
OMIM:615382 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Hypocalcemia, Hepatomegaly, Splenomegaly, Abnormality of the small intestine, Prem... |
ORPHA:100025 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Renal tubular dysfunction, Ketonuria, Abnormality of the upper urinary tract, Hypovolemia, Glycos... |
ORPHA:99885 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cystic renal dysplasia, Cholestasis, Enla... |
OMIM:615415 |
Infantile Nephropathic Cystinosis |
|
Hyperchloremic metabolic acidosis, Renal tubular dysfunction, Growth delay, Acidosis, Hypophospha... |
ORPHA:411629 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Apparent Mineralocorticoid Excess |
|
Growth delay, Decreased circulating aldosterone level, Hypokalemia, Short stature, Decreased circ... |
OMIM:218030 |
Addison Disease |
|
Thymoma, Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating ren... |
ORPHA:85138 |
Glycine N-Methyltransferase Deficiency |
|
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Familial Hypocalciuric Hypercalcemia |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Renal hyp... |
ORPHA:405 |
Familial Hyperaldosteronism Type Iii |
|
Hypercalciuria, Hypokalemia, Metabolic alkalosis |
ORPHA:251274 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Nephrolithiasis, Hypokalemia, Decreased circulating renin level, Pulmonary arterial hypertension,... |
OMIM:615474 |
Hyperaldosteronism, Familial, Type I |
|
Abnormality of the urinary system, Adrenal hyperplasia, Adrenogenital syndrome, Decreased circula... |
OMIM:103900 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Elevated urinary prostaglandin E2 level |
OMIM:167100 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Postnatal growth retardation, Duplicated collecting system, Intrauterine growth retardation, Hydr... |
OMIM:617093 |
Saccharopinuria |
|
Histidinuria, Citrullinuria, Elevated circulating sacchoropine concentration, Short stature, Hype... |
OMIM:268700 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
High palate, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Enlarge... |
OMIM:608836 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... |
OMIM:615234 |
Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated tra... |
OMIM:613313 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Macdermot-Winter Syndrome |
|
Intrauterine growth retardation, Hydronephrosis |
OMIM:247990 |
Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Nephrotic syndrome, Myocardial infarction, Glomerular subendothelial elec... |
ORPHA:54370 |
Lcat Deficiency |
|
Premature coronary artery atherosclerosis, Decreased glomerular filtration rate, Decreased circul... |
ORPHA:650 |
Timothy Syndrome |
|
Hypocalcemia, Tetralogy of Fallot, Ventricular septal defect, Hypoglycemia, Patent foramen ovale,... |
OMIM:601005 |
Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Glucose intolerance, Testicular atrophy, Impotence,... |
OMIM:235200 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated alpha-fetoprotein, Recurrent urinary tract infections, Multiple renal cysts... |
OMIM:613095 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... |
ORPHA:976 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Chronic tubulointerstitial nephritis, Nephrono... |
OMIM:602088 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... |
OMIM:613673 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Nephrogenic diabetes insipidus, Short stature, Polyuria, Hypernatremia, Megacystis |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Short stature, Polyuria, Hypernatremia, Megacystis, Diabetes insipidus |
OMIM:304800 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Reduced renal corticomedullary differentiation, Short stature, Metabolic acidosis, Renal cortical... |
OMIM:611555 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly |
ORPHA:52416 |
Galactokinase Deficiency |
|
Increased level of galactitol in urine, Hyperinsulinemia, Hepatomegaly, Hypergonadotropic hypogon... |
ORPHA:79237 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Dent Disease 2 |
|
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Short stature, Elevated circulating crea... |
OMIM:300555 |
Cholera |
|
Abnormality of renal excretion, Acidosis, Hypokalemia, Hypocalcemia, Abnormal blood ion concentra... |
ORPHA:173 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Tiglic Acidemia |
|
Acidosis, Aminoaciduria |
OMIM:275190 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... |
OMIM:310468 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Increased serum lactate, Elevated circulating creatine kinase concentration, Metabolic alkalosis,... |
OMIM:616239 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Throm... |
OMIM:603552 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Severe short stature, Elevated circulating creatinine concentration, Nephropathy, Decreased glome... |
OMIM:242530 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Hyper... |
OMIM:161900 |
Pseudohypoaldosteronism, Type Iib |
|
Hypertension, Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hypertension, Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614495 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... |
OMIM:143400 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Nail-Patella-Like Renal Disease |
|
Short stature, Renal insufficiency, Proteinuria, Glomerulopathy, Hypertension, Microscopic hematuria |
ORPHA:2613 |
Helix Syndrome |
|
Nephrolithiasis, Hypokalemia, Polyuria, Hypocalciuria, Renal insufficiency, Hypermagnesemia |
OMIM:617671 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Hyper... |
OMIM:601894 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoplasia of penis, Hypoglycemia, Hypercholesterolemia, Insulin resis... |
ORPHA:181393 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Renal tubular acidosis, Dysmenorrhea, Splenomegaly, Ketotic hypoglycemia, Cirrhosis... |
ORPHA:79240 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... |
OMIM:604387 |
Pituitary Adenoma 4, Acth-Secreting |
|
Nephrolithiasis, Alkalosis, Hypokalemia |
OMIM:219090 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis |
OMIM:618270 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... |
ORPHA:730 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Myoglobinuria, Acute kidney injury, Hyperkalemia |
OMIM:268200 |
Mucopolysaccharidosis-Plus Syndrome |
|
Nephrotic syndrome, Atrial septal defect, Hepatomegaly, Nephritis, Splenomegaly, Macroglossia, Re... |
OMIM:617303 |
Snakebite Envenomation |
|
Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cerebral ischemia, Myocardi... |
ORPHA:449285 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice |
OMIM:312500 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Nephrolithiasis, Hypokalemia, Metabolic alkalosis |
ORPHA:369929 |
Cystinosis, Nephropathic |
|
Metabolic acidosis, Glycosuria, Hematuria, Proteinuria, Stage 5 chronic kidney disease, Nephrolit... |
OMIM:219800 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Typ... |
OMIM:616860 |
Brugada Syndrome 3 |
|
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... |
OMIM:611875 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Lactic acidosis, Hydronephrosis |
OMIM:618240 |
Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Aminoaciduria, Elevated circulating parathyroid hormone level, Primary hyperpar... |
OMIM:239200 |
Renal Hypoplasia |
|
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... |
ORPHA:93101 |
H Syndrome |
|
Histiocytosis, Amenorrhea, Malabsorption, Micropenis, Abnormality of the kidney, Hepatosplenomega... |
ORPHA:168569 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Elevated hepatic transami... |
OMIM:614817 |
Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Renal cortical adenoma, Decreased circulating renin level, Epistaxis, Hypertension, ... |
ORPHA:231632 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... |
OMIM:610947 |
Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... |
OMIM:266900 |
Short Qt Syndrome 1 |
|
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... |
OMIM:609620 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612925 |
African Iron Overload |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... |
ORPHA:139507 |
Pseudohypoaldosteronism, Type Iic |
|
Hypertension, Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
|
Hypertension, Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614496 |
Rhabdoid Tumor |
|
Weight loss, Internal hemorrhage, Hypercalcemia, Hypertension, Anemia, Thrombocytopenia |
ORPHA:69077 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Pancreatitis, Hepatomegaly, Hepatocellular adenoma, Enlarged kidney, Proteinuria, Hyperuricemia, ... |
ORPHA:79259 |
Congenital Generalized Lipodystrophy |
|
Amenorrhea, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Macroglossia, Cirrhosi... |
ORPHA:528 |
Nephronophthisis 11 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Grow... |
OMIM:613550 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular septal defect, Increased circulating free fatty acid level, Prolonged QT interval, At... |
ORPHA:26793 |
Hinman Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... |
ORPHA:84085 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hyperammonemia, Elevated circulating creatine kinase concentra... |
OMIM:212138 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,... |
OMIM:616829 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... |
OMIM:232200 |
Alpha-1-Antitrypsin Deficiency |
|
Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated he... |
OMIM:613490 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612922 |
Focal Segmental Glomerulosclerosis 2 |
|
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hype... |
OMIM:603965 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating aspartate aminotransferase c... |
OMIM:620010 |
Senior-Loken Syndrome 3 |
|
Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic kidney disease |
OMIM:606995 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, T... |
ORPHA:848 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, Increased circu... |
ORPHA:90793 |
Urofacial Syndrome 2 |
|
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... |
OMIM:615112 |
Nephrotic Syndrome, Type 17 |
|
Steroid-resistant nephrotic syndrome, Short stature, Focal segmental glomerulosclerosis, Proteinu... |
OMIM:618176 |
Liddle Syndrome 2 |
|
Decreased circulating renin level, Decreased circulating aldosterone level, Hypokalemia, Hyperten... |
OMIM:618114 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... |
ORPHA:94088 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Abnormality of the urinary system, Tachyca... |
ORPHA:91547 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal phosphate wasting, Renal hypophosphatemia |
OMIM:241519 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Immunodeficiency 104 |
|
Gastroesophageal reflux, Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
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 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Nephrotic syndrome, Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenome... |
OMIM:615559 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly, Splenomegaly |
OMIM:619175 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Peripheral arterial stenosis, Abnormal left ventricular function, Transient ischemic attack, Muco... |
ORPHA:91387 |
Cardiogenic Shock |
|
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... |
ORPHA:97292 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthinuria, Hematuria, Hyperxanthinemia, Hypou... |
ORPHA:3467 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated creatine kinase after ... |
ORPHA:159 |
Late-Onset Isolated Acth Deficiency |
|
Failure to thrive, Orthostatic hypotension, Eosinophilia, Normocytic anemia, Hypotension, Macrocy... |
ORPHA:199299 |
Myofibrillar Myopathy 10 |
|
Flexion contracture of finger, Left ventricular hypertrophy, Elevated circulating creatine kinase... |
OMIM:619040 |
Kaposiform Lymphangiomatosis |
|
Lymphangioma, Pancreatic cysts, Splenomegaly, Metrorrhagia, Abnormal spleen morphology, Hepatospl... |
ORPHA:464329 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Esophageal varix, Fat malabsorp... |
ORPHA:731 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy... |
OMIM:616689 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... |
OMIM:609621 |
Parathyroid Carcinoma |
|
Hypophosphatemia, Lipoma, Chondrocalcinosis, Osteoporosis, Hypercalcemia, Infantile hypercalcemia... |
ORPHA:143 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Increased serum lactate, Hyperprolinemia, Lacticaciduria, Lactic acidosis, Hyperalaninemia |
ORPHA:79246 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Hepatosple... |
OMIM:613101 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Hepatomegaly, Cryptorchidism, Cholestasis, Hypothyroidism, Elevated cir... |
OMIM:608104 |
Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Short stature, Abnormal localization of kidney, Hydronephrosis, Intraut... |
ORPHA:195 |
Familial Glucocorticoid Deficiency |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... |
ORPHA:361 |
Marburg Hemorrhagic Fever |
|
Hypokalemia, Hyperammonemia, Hypovolemia, Elevated circulating creatine kinase concentration, Tac... |
ORPHA:99826 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Renal insuff... |
OMIM:162000 |
Neonatal Lupus Erythematosus |
|
Neutropenia, Splenomegaly, Aplastic anemia, Arrhythmia, Hemolytic anemia, Abnormal electrophysiol... |
ORPHA:398124 |
Mercury Poisoning |
|
Hypokalemia, Tachycardia, Hypotension, Acute kidney injury, Hypertension |
ORPHA:330021 |
Vesicoureteral Reflux 3 |
|
Hydroureter, Vesicoureteral reflux, Hydronephrosis |
OMIM:613674 |
Xanthinuria, Type I |
|
Xanthinuria, Hyperxanthinemia, Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis |
OMIM:278300 |
Renal Cysts And Diabetes Syndrome |
|
Exocrine pancreatic insufficiency, Glycosuria, Biliary tract abnormality, Pancreatic hypoplasia, ... |
OMIM:137920 |
Medullary Sponge Kidney |
|
Distal renal tubular acidosis, Nephrolithiasis, Hematuria, Hypercalciuria |
ORPHA:1309 |
Fibronectin Glomerulopathy |
|
Nephrotic syndrome, Cerebral hemorrhage, Abnormal glomerular mesangium morphology, Renal insuffic... |
ORPHA:84090 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hypokalemia |
OMIM:605635 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypophosphatemia, Lipoma, Chondrocalcinosis, Osteoporosis, Hypercalcemia, Infantile hypercalcemia... |
ORPHA:99880 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hepatic fibrosis... |
OMIM:614480 |
Image Syndrome |
|
Hypospadias, Intrauterine growth retardation, Hydronephrosis |
ORPHA:85173 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... |
OMIM:616000 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... |
OMIM:237800 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Hypertension, S... |
OMIM:603278 |
Fanconi Renotubular Syndrome 3 |
|
Growth delay, Aminoaciduria, Short stature, Metabolic acidosis, Glycosuria, Low-molecular-weight ... |
OMIM:615605 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Stage 2 chronic kidney disease, Hypospadias, Recurrent urinary tract infections, Hydronephrosis, ... |
OMIM:191800 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Hypokalemia, Short s... |
OMIM:202010 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
Liddle Syndrome 3 |
|
Hypokalemia, Metabolic alkalosis |
OMIM:618126 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... |
ORPHA:66529 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy, Esophageal carcinoma |
ORPHA:99977 |
Posterior Urethral Valve |
|
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Postnatal growth retardation, Recurr... |
ORPHA:93110 |
Glycogen Storage Disease Xi |
|
Increased serum lactate, Increased serum pyruvate, Myoglobinuria, Elevated circulating creatine k... |
OMIM:612933 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... |
ORPHA:3202 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia, Bone cyst, Hypercalcemia |
ORPHA:2668 |
Galactosemia Iii |
|
Hepatomegaly, Aminoaciduria, Splenomegaly, Hypergalactosemia, Galactosuria, Jaundice |
OMIM:230350 |
Hsd10 Disease, Neonatal Type |
|
Metabolic acidosis, Lactic acidosis, Abnormal concentration of acylcarnitine in the urine |
ORPHA:391457 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Arrhythmia, Oliguria, Hyperphosphatemia, Renal... |
ORPHA:99845 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... |
ORPHA:231222 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Glucose intolerance, Impotence, Hepatomegaly, Cirrh... |
OMIM:606069 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... |
ORPHA:86841 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Myoglobinuria, Arrhythmia, Acute kidney injury, Growth d... |
ORPHA:57 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hyperbilirubinemia, Tachycardia, Arrhythmia, Hypotension, Elevated circulating creatinine concent... |
ORPHA:542323 |
Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy, Carnosinuria |
OMIM:309930 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, High-output congestive heart failure, Splenomegaly, Extramedul... |
ORPHA:231226 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating renin level, Decreased circulating aldosterone level, Hypertension |
OMIM:605115 |
Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Restrictive cardi... |
ORPHA:85451 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Abnormality of the lymph nod... |
ORPHA:54251 |
Focal Segmental Glomerulosclerosis 6 |
|
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... |
OMIM:614131 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ... |
ORPHA:100024 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... |
OMIM:618052 |
Hemorrhagic Fever-Renal Syndrome |
|
Melena, Decreased glomerular filtration rate, Hematuria, Elevated circulating creatinine concentr... |
ORPHA:340 |
X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Hydronephrosis, Short stature |
ORPHA:85285 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Increased circulating brain natriuretic peptide concentration, Left... |
OMIM:601494 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Amenorrhea, Infertility, Hepatomegaly, Splenomegaly... |
OMIM:602390 |
Hydroxykynureninuria |
|
Tachycardia, Renal tubular acidosis, Hypotension, Abnormal circulating tryptophan concentration |
ORPHA:79155 |
Infantile Sialic Acid Storage Disease |
|
High palate, Nephrotic syndrome, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated h... |
OMIM:269920 |
Retinitis Pigmentosa 59 |
|
Hepatomegaly, Micropenis, Elevated hepatic transaminase, Renal insufficiency, Cryptorchidism |
OMIM:613861 |
Hypophosphatasia |
|
Anemia, Failure to thrive in infancy, Hypercalcemia, Craniosynostosis |
ORPHA:436 |
46,Xy Sex Reversal 4 |
|
High palate, Sex reversal, Anal atresia, Hypoplasia of the uterus, Increased blood urea nitrogen,... |
OMIM:154230 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Pancreatitis, Elevated circulating C-reactive protein concentration, ... |
ORPHA:449395 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hypercalcemia |
ORPHA:2123 |
3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Nonprogressive cerebellar ataxia, Dilated cardiomyopathy, Noncompaction car... |
OMIM:610198 |
Renal Tubular Dysgenesis |
|
Anuria, Abnormality of the urinary system, Renotubular dysgenesis, Hypotension |
OMIM:267430 |
Citrullinemia, Classic |
|
Oroticaciduria, Episodic ammonia intoxication, Hyperammonemia, Hypoargininemia, Hyperglutaminemia... |
OMIM:215700 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Hypoplasia of the s... |
OMIM:200995 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Cirrhotic Cardiomyopathy |
|
Fourth heart sound, Right atrial enlargement, Abnormal A-type atrial natriuretic peptide level, L... |
ORPHA:57777 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Hepatomegaly |
ORPHA:79281 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Polycystic ovaries, Enlarged kidney, Insulin-r... |
ORPHA:90301 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Renal salt wasting |
OMIM:614736 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... |
ORPHA:71212 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... |
OMIM:607616 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia, Short stature, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal ins... |
OMIM:613388 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:301028 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility, Abnormality of the lymph nodes |
OMIM:136580 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated alpha-fetoprotein, Cirrhosis, Sclerosing cholangitis, Elevated circulating... |
OMIM:619662 |
Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... |
ORPHA:1501 |
Nephrotic Syndrome, Type 9 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Stage 5 chr... |
OMIM:615573 |
Dysmyelination With Jaundice |
|
Hydroureter, Hypoplasia of penis, Hydronephrosis |
OMIM:224250 |
Idiopathic Hypercalciuria |
|
Renal calcium wasting, Hypercalciuria, Calcium oxalate nephrolithiasis |
ORPHA:2197 |
Leprechaunism |
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Severe intrauterine growth retardation, Hypokalemia, Hyperinsulinemia, Hypercalciuria, Long penis... |
ORPHA:508 |
Nephrotic Syndrome, Type 15 |
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Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease, Minimal change ... |
OMIM:617609 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Increased blood urea nitrogen, Abnormal renal physiology, Schistocytosis, Microscopic hematuria, ... |
OMIM:274150 |
Focal Segmental Glomerulosclerosis 5 |
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Focal segmental glomerulosclerosis, Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chr... |
OMIM:613237 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
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Acidosis, Severe short stature, Aminoaciduria |
OMIM:204730 |
Heme Oxygenase 1 Deficiency |
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Increased circulating ferritin concentration, Hepatomegaly, Coombs-positive hemolytic anemia, Ele... |
OMIM:614034 |
Bardet-Biedl Syndrome 17 |
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Renal cyst, Polyuria, Stage 5 chronic kidney disease, Micropenis |
OMIM:615994 |
Amelogenesis Imperfecta, Type Ig |
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Impaired renal concentrating ability, Polyuria, Renal insufficiency, Enuresis, Nephrocalcinosis |
OMIM:204690 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
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Hydroureter, Hydronephrosis |
OMIM:264140 |
Lipoid Congenital Adrenal Hyperplasia |
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Hypospadias, Renal salt wasting |
OMIM:201710 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
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Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Hypertension |
OMIM:607832 |
Hemoglobin E-Beta-Thalassemia Syndrome |
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Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Lysinuric Protein Intolerance |
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Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hemophagocytosis, Steat... |
ORPHA:470 |
Nephrotic Syndrome, Type 2 |
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Hyperlipidemia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbumine... |
OMIM:600995 |
Temple Syndrome |
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High palate, Cleft palate, Maturity-onset diabetes of the young, Bifid uvula, Hypertriglyceridemi... |
OMIM:616222 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Hypomagnesemia, Hypocalcemia, Polyuria, Renal dysplasia, Hematochezia, Hypertriglyceridemia, Hypo... |
OMIM:618183 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Hepatomegaly, Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... |
ORPHA:247598 |
Primary Hyperoxaluria Type 1 |
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Nephrolithiasis, Dysuria, Decreased glomerular filtration rate, Recurrent urinary tract infection... |
ORPHA:93598 |
Pulmonary Nodular Lymphoid Hyperplasia |
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Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis |
ORPHA:60026 |
Splenoportal Vascular Anomalies |
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Splenomegaly, Hyperammonemia, Cirrhosis, Hepatic fibrosis, Diabetes mellitus, Ascites, Anomalous ... |
OMIM:271500 |
Ethanolaminosis |
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Cardiomegaly |
OMIM:227150 |
Alpha-Thalassemia |
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Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Neutral Lipid Storage Disease With Myopathy |
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Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ... |
OMIM:610717 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
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Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly |
OMIM:206400 |
Dopamine Beta-Hydroxylase Deficiency |
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Hyperinsulinemia, Increased blood urea nitrogen, Orthostatic hypotension, Syncope, Hypoglycemia, ... |
ORPHA:230 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
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Nephrocalcinosis, Renal tubular acidosis, Hypercalcemia, Hypercalciuria |
OMIM:239199 |
Ethylene Glycol Poisoning |
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Renal tubular dysfunction, Hypocalcemia, Tachycardia, Hematuria, Hypotension, Atrial fibrillation... |
ORPHA:31826 |
Congenital Toxoplasmosis |
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Hepatomegaly, Thrombocytopenia, Elevated hepatic transaminase, Ascites, Anemia, Lymphadenopathy, ... |
ORPHA:858 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158057 |
Carnitine Deficiency, Systemic Primary |
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Hepatomegaly, Hyperammonemia, Endocardial fibroelastosis, Hypoglycemia, Decreased plasma carnitin... |
OMIM:212140 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
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Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Abnormality of the k... |
ORPHA:369 |
Perlman Syndrome |
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Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly, Hypoplasia of penis, High, narrow p... |
ORPHA:2849 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
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Cerebral hemorrhage, Leukocytosis, ST segment depression, Left ventricular hypertrophy, Cerebral ... |
ORPHA:90065 |
Cholestasis-Lymphedema Syndrome |
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Malabsorption, Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transamina... |
OMIM:214900 |
Ulna Metaphyseal Dysplasia Syndrome |
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Hypercalcemia |
OMIM:191420 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
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Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Neuroleptic Malignant Syndrome |
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Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Myoglobinuria, ... |
ORPHA:94093 |
Carnitine Palmitoyltransferase I Deficiency |
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Hepatomegaly, Renal tubular acidosis, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulat... |
OMIM:255120 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
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Oroticaciduria, Episodic ammonia intoxication, Hyperammonemia, Low plasma citrulline, Hyperglutam... |
OMIM:311250 |
Loeffler Endocarditis |
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Right bundle branch block, Pericarditis, Weight loss, Myocardial fibrosis, Abnormal morphology of... |
ORPHA:75566 |
Blue Diaper Syndrome |
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Increased body weight, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcemia, Recu... |
ORPHA:94086 |
Legionnaires Disease |
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Arrhythmia, Hematuria, Myocarditis, Hypotension, Proteinuria, Hyponatremia, Renal insufficiency, ... |
ORPHA:549 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
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Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... |
OMIM:619375 |
Brugada Syndrome 4 |
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Atrial fibrillation, Shortened QT interval, Syncope |
OMIM:611876 |
Hypophosphatasia, Infantile |
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Failure to thrive, Craniosynostosis, Elevated plasma pyrophosphate, Intracranial hemorrhage, Decr... |
OMIM:241500 |
Ornithine Transcarbamylase Deficiency |
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Aminoaciduria, Hepatic failure, Hyperammonemia, Splenomegaly, Hypoglycemia, Pyloric stenosis |
ORPHA:664 |
Systemic Capillary Leak Syndrome |
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Abnormal renal tubule morphology, Arrhythmia, Myocarditis, Hypotension, Oliguria, Renal insuffici... |
ORPHA:188 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Episodic hemolytic anemia, Increased blood urea nitrogen, Macroscopic hematuria, Membranoprolifer... |
ORPHA:251004 |
Symptomatic Form Of Hemochromatosis Type 1 |
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Increased circulating ferritin concentration, Cholangiocarcinoma, Testicular atrophy, Hepatomegal... |
ORPHA:465508 |
Short Qt Syndrome 3 |
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Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
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Polyuria, Proximal tubulopathy |
OMIM:560000 |
Congenital Dyserythropoietic Anemia Type Iii |
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Increased mean corpuscular volume, Melena, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Incr... |
ORPHA:98870 |
Neonatal Severe Primary Hyperparathyroidism |
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Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gland, Hepatomega... |
ORPHA:417 |
Immunodeficiency 18 |
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Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Meacham Syndrome |
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Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Blind vagina, Atrial ... |
OMIM:608978 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... |
OMIM:615631 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
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Adrenocorticotropic hormone deficiency, Precocious puberty, Decreased response to growth hormone ... |
ORPHA:91354 |
Cog4-Cdg |
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Recurrent infection of the gastrointestinal tract, Cirrhosis, Hepatosplenomegaly, Elevated hepati... |
ORPHA:263501 |
Citrullinemia Type Ii |
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Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... |
ORPHA:247585 |
Teratoma, Pineal |
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Polyuria |
OMIM:273120 |
Combined Oxidative Phosphorylation Deficiency 33 |
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Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kin... |
OMIM:617713 |
Progressive Familial Intrahepatic Cholestasis |
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Malabsorption, Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice |
ORPHA:172 |
Non-Functioning Paraganglioma |
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Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
Pearson Syndrome |
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Growth delay, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Elevated lactate:pyruvate ratio, Hyp... |
ORPHA:699 |
Argininosuccinic Aciduria |
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Oroticaciduria, Aminoaciduria, Episodic ammonia intoxication, Hyperammonemia, Hypoargininemia, Hy... |
OMIM:207900 |
Hemoglobin E Disease |
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Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
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Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Hypercalciuria, Hyperphosphaturia |
OMIM:612286 |
Cardiac-Urogenital Syndrome |
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Enlarged kidney, Ventricular septal defect, Ambiguous genitalia, Patent urachus, Unilateral crypt... |
OMIM:618280 |
Renal Dysplasia |
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Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
Tyrosinemia Type 1 |
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Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Generalized aminoaci... |
ORPHA:882 |
Fanconi Anemia, Complementation Group O |
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Renal cyst, Short stature, Hydronephrosis, Stage 5 chronic kidney disease |
OMIM:613390 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis |
OMIM:601820 |
Isolated Polycystic Liver Disease |
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Hepatomegaly, Gastroesophageal reflux, Polycystic liver disease, Multiple renal cysts, Abnormalit... |
ORPHA:2924 |
Urofacial Syndrome 1 |
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Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... |
OMIM:236730 |
Iron-Refractory Iron Deficiency Anemia |
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Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
Ochoa Syndrome |
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Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Ve... |
ORPHA:2704 |
Apolipoprotein C-Ii Deficiency |
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Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... |
OMIM:207750 |
Dent Disease 1 |
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Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemia, Aminoaciduria... |
OMIM:300009 |
Gitelman Syndrome |
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Hypomagnesemia, Hypokalemia, Renal tubular acidosis, Hypocalcemia, Metabolic alkalosis, Diabetic ... |
ORPHA:358 |
Meningococcal Meningitis |
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Shock, Elevated circulating C-reactive protein concentration, Renal insufficiency, Hypotension |
ORPHA:33475 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Anal atresia, Urethral atresia, Atrioventricular canal defect, Tracheoesophageal fistula, Enlarge... |
OMIM:314390 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Hypophosphatemia, Aminoaciduria, Short stature, Metabolic acidosis, Glycosuria, Proteinuria, Hype... |
OMIM:616026 |
Idiopathic Non-Lupus Full-House Nephropathy |
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Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Elevated ... |
ORPHA:567544 |
Familial Renal Glucosuria |
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Renal tubular dysfunction, Moderate postnatal growth retardation, Recurrent urinary tract infecti... |
ORPHA:69076 |
Thyroid Hormone Metabolism, Abnormal, 2 |
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Elevated circulating reverse T3 concentration, Elevated circulating rT3/T3 ratio, Hypercholestero... |
OMIM:619855 |
Beckwith-Wiedemann Syndrome |
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Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Cleft palate, Enlarged kidney, A... |
ORPHA:116 |
Orthostatic Hypotension 2 |
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Orthostatic hypotension, Decreased glomerular filtration rate |
OMIM:618182 |
Bile Acid Synthesis Defect, Congenital, 5 |
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Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated... |
OMIM:616278 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
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Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... |
OMIM:600649 |
Heterotaxy, Visceral, 1, X-Linked |
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Posteriorly placed anus, Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged k... |
OMIM:306955 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
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Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Gastroesophageal reflux, Hyperammonem... |
OMIM:201475 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
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Increased serum lactate, Increased serum pyruvate, Myoglobinuria, Elevated circulating creatine k... |
ORPHA:2364 |
Focal Segmental Glomerulosclerosis 10 |
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Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... |
OMIM:256020 |
Nephrotic Syndrome, Type 11 |
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High palate, Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Cleft palate... |
OMIM:616730 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
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Central hypothyroidism, Secondary amenorrhea, Inappropriately normal thyroid-stimulating hormone ... |
OMIM:301033 |
Pseudohypoparathyroidism Type 2 |
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Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Prolonged QT interval, Hypocalcemic seizures |
ORPHA:94090 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
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Hepatomegaly, Supernumerary nipple, Chronic tubulointerstitial nephritis, Elevated circulating cr... |
OMIM:614376 |
Igg4-Related Retroperitoneal Fibrosis |
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Dysuria, Hydrocele testis, Nephrotic syndrome, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
Coenzyme Q10 Deficiency, Primary, 8 |
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Flexion contracture, Small for gestational age, Left ventricular hypertrophy, Elevated circulatin... |
OMIM:616733 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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