Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E... |
ORPHA:556037 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was... |
OMIM:610600 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E... |
ORPHA:556030 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hypotension, D... |
OMIM:203400 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi... |
OMIM:601198 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoa... |
OMIM:264350 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
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Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Second degre... |
OMIM:615474 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
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Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Nephrolithias... |
ORPHA:369929 |
Apparent Mineralocorticoid Excess |
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Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Hypokal... |
ORPHA:320 |
Hyperaldosteronism, Familial, Type I |
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Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Abnormality of the urinary system, Hyp... |
OMIM:103900 |
Familial Hyperaldosteronism Type Iii |
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Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... |
ORPHA:251274 |
Muscle Filaminopathy |
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Extremely elevated creatine kinase, Scapular winging, Left ventricular diastolic dysfunction, Fat... |
ORPHA:171445 |
Autosomal Dominant Polycystic Kidney Disease |
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Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Bartter Syndrome, Type 3 |
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Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Familial Hypoaldosteronism |
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Hyponatremia, Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Hypovolem... |
ORPHA:427 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
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Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... |
OMIM:177735 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
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Hyperalaninemia, Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Elevated... |
OMIM:619048 |
Cardiomyopathy, Dilated, 1R |
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Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
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Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Ragged-red muscle fi... |
OMIM:540000 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
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Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne... |
ORPHA:231625 |
Acute Adrenal Insufficiency |
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Hyponatremia, Decreased circulating cortisol level, Renal insufficiency, Orthostatic hypotension,... |
ORPHA:95409 |
Hyperaldosteronism, Familial, Type Iii |
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Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Hyperaldosteronism, Dec... |
OMIM:613677 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
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Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension |
OMIM:620125 |
East Syndrome |
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Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased... |
ORPHA:199343 |
Oligomeganephronia |
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Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Congenit... |
ORPHA:2260 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Hyponatremia, Decreased circulating cortisol level, Penoscrotal hypospadias, Hypospadias, Increas... |
ORPHA:90791 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Type II... |
ORPHA:225 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
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Polyuria, Renal salt wasting, Enuresis, Hypertension, Hyperaldosteronism, Increased circulating r... |
OMIM:612780 |
Hypokalemic Tubulopathy And Deafness |
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Hyperaldosteronism, Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Andersen-Tawil Syndrome |
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Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Fanconi Renotubular Syndrome 2 |
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Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re... |
OMIM:613388 |
Gitelman Syndrome |
|
Prolonged QT interval, Polyuria, Renal magnesium wasting, Hypomagnesemia, Rhabdomyolysis, Ventric... |
OMIM:263800 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
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Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Cardiom... |
OMIM:255100 |
Polycystic Kidney Disease 7 |
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Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... |
OMIM:620056 |
Coproporphyria, Hereditary |
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Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Hypertensio... |
OMIM:121300 |
Left Ventricular Noncompaction 1 |
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Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Glycogen Storage Disease Ia |
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Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Proteinuria, Hyperlipidemia, ... |
OMIM:232200 |
Lcat Deficiency |
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Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Generalized Pseudohypoaldosteronism Type 1 |
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Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Hypovolemic sh... |
ORPHA:171876 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
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Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Trimethylaminuria |
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Splenomegaly, Hypertension, Tachycardia, Trimethylaminuria |
OMIM:602079 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Abnormal coronary artery morphology, Cardiac shunt, Maternal diabetes, Cardiomegaly, Abnormal aor... |
ORPHA:860 |
Fabry Disease |
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Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta... |
OMIM:301500 |
Coronary Artery Disease, Autosomal Dominant, 1 |
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Diabetes mellitus, Myocardial infarction, Hypertension, Hypercholesterolemia, Premature coronary ... |
OMIM:608320 |
Renal Hypoplasia, Bilateral |
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Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Oliguria, Renal hypoplasia, Rena... |
ORPHA:97362 |
Preeclampsia |
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Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Chronic kidney disease, El... |
ORPHA:275555 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
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Hepatomegaly, Tachycardia, Episodic hyperhidrosis, Hyperinsulinemia, Decreased circulating free f... |
ORPHA:276575 |
Primary Membranoproliferative Glomerulonephritis |
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Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:54370 |
Multifocal Atrial Tachycardia |
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Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
Hyperaldosteronism, Familial, Type Ii |
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Hypertension, Hypokalemia, Hyperaldosteronism |
OMIM:605635 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
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Proteinuria, Abnormal mitral valve morphology, Arterial stenosis, Cerebral artery atherosclerosis... |
ORPHA:1192 |
Preeclampsia/Eclampsia 1 |
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Elevated hepatic transaminase, Hypertension, Proteinuria |
OMIM:189800 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
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Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
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Elevated circulating creatine kinase concentration, Congestive heart failure, Quadriceps muscle w... |
ORPHA:206546 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
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Hepatomegaly, Tachycardia, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Syncope, ... |
ORPHA:276580 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
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Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Elevated systolic blood pressure, Hypo... |
OMIM:300539 |
Glomerulopathy With Fibronectin Deposits 1 |
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Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Primary Unilateral Adrenal Hyperplasia |
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Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h... |
ORPHA:231580 |
Glomerulopathy With Fibronectin Deposits 2 |
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Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Gaisböck Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Splenomegaly, Hy... |
ORPHA:90041 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... |
ORPHA:89938 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
Peripartum Cardiomyopathy |
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Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Familial Hyperaldosteronism Type Ii |
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Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... |
ORPHA:404 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Episodic hyperhidrosis, Decreased circulating free fatty acid level, S... |
ORPHA:276556 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Increased LDL cholesterol conc... |
OMIM:610947 |
Bartter Syndrome, Type 1, Antenatal |
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Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Polyuria, Hypercalcemia,... |
OMIM:601678 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria, Hypertension |
ORPHA:2820 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Splenomegaly, Hyperlipidemia, Nephrolit... |
OMIM:232220 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
Variegate Porphyria |
|
Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Tachycardia, Porph... |
OMIM:176200 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Increased circulati... |
ORPHA:168558 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... |
OMIM:613090 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Renal insufficiency, Hepatomegaly, Proteinuria, Myocardial infarction, Congestive h... |
ORPHA:330001 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
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Ventricular hypertrophy, Decreased muscle mass, Diabetes mellitus, Decreased muscle glycogen cont... |
ORPHA:263297 |
Familial Hyperaldosteronism Type I |
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Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... |
ORPHA:403 |
Aapoaiv Amyloidosis |
|
Left bundle branch block, Sinus bradycardia, Elevated circulating creatinine concentration, Cardi... |
ORPHA:439232 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
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Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ... |
OMIM:241150 |
Glycogen Storage Disease 0, Muscle |
|
Decreased muscle glycogen content, Left atrial enlargement, Cardiomyopathy, Stroke, Left ventricu... |
OMIM:611556 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Abnormal autonomic nervous system physiolog... |
ORPHA:85447 |
Addison Disease |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:85138 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension, Hyperaldosteronism |
OMIM:617027 |
Familial Cervical Artery Dissection |
|
Diabetes mellitus, Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Carotid arte... |
ORPHA:36382 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D... |
OMIM:618061 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Hyperhidrosis, Tubulointerstitial nephritis, Intracra... |
ORPHA:340 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Isosexual precocious puberty, Premature... |
ORPHA:90795 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Hypokalemia, Adre... |
ORPHA:231632 |
Cln3 Disease |
|
Optic atrophy, Increased circulating androgen concentration, T-wave inversion, Bradycardia, Left ... |
ORPHA:228346 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Skeletal muscle atrophy, Tachycardia, Recurrent myoglobinuria, Elevated circulating c... |
ORPHA:368 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Liddle Syndrome 1 |
|
Renal insufficiency, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease... |
OMIM:177200 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Hypertension, Paraganglioma |
OMIM:618464 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Maturity-onset diabetes of the young, Maternal diabetes, Episodic hype... |
ORPHA:324575 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... |
ORPHA:470 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Tubulointers... |
ORPHA:358 |
Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Decreased glomerular filtration rate |
OMIM:618182 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Pure Autonomic Failure |
|
Anhidrosis, Orthostatic hypotension, Dysuria, Urinary incontinence, Abnormality of circulating ca... |
ORPHA:441 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Tachyc... |
OMIM:614921 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Abnormal renal tubular resorption, Congestive heart f... |
ORPHA:73224 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level |
OMIM:620126 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Elevated circulating creatinine concentration, Hypertension, Abnormal renal ... |
OMIM:616733 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria |
ORPHA:2613 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Aganglionic megacolon, Ventricular septal defect, Patent ductus arteriosus, Flexion ... |
OMIM:613870 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... |
OMIM:115210 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Xerostomia, Hypoalbuminemia, Abnormal EKG, Hepatom... |
ORPHA:85443 |
Porphyria Variegata |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Neurogenic ... |
ORPHA:79473 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Male hypogonadism, Micropenis, Decreased circulating renin ... |
ORPHA:90793 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Renal salt wasting, Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess |
OMIM:613743 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase... |
OMIM:617713 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated hepat... |
OMIM:619355 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... |
OMIM:613944 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial hemorrh... |
ORPHA:449285 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina... |
OMIM:241200 |
Myofibrillar Myopathy 10 |
|
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Elbow flexion cont... |
OMIM:619040 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Micropenis, Hypothyroidism, Hepatomegaly, Portal hypertension, Pericardial effus... |
OMIM:619487 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypert... |
ORPHA:84090 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... |
OMIM:616818 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Skeletal m... |
OMIM:613156 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, L... |
ORPHA:86812 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... |
OMIM:608751 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Elevated hepatic transaminase, Ventricular hypertrophy, Elevated circulating aspartate aminotrans... |
OMIM:300280 |
Loeffler Endocarditis |
|
Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit... |
ORPHA:75566 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... |
ORPHA:57777 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... |
ORPHA:94088 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Ventricular hypertrophy, Hepatomegaly, Dicarboxylic aciduria, Card... |
OMIM:212138 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... |
OMIM:162000 |
Atrial Fibrillation, Familial, 6 |
|
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R... |
OMIM:612201 |
Lessel-Kubisch Syndrome |
|
Hypertension, Renal insufficiency, Hypogonadism, Renal hypoplasia |
OMIM:618681 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Proteinuria, Abnormal circulating fatty... |
ORPHA:263455 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... |
OMIM:610476 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Spider hemangioma, Chronic pancreatitis, Hyperlip... |
OMIM:232240 |
Tetanus |
|
Tachycardia, Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine ... |
ORPHA:3299 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... |
OMIM:171420 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Paget Disease Of Bone 6 |
|
Nephrocalcinosis, Elevated circulating alkaline phosphatase concentration, Left ventricular hyper... |
OMIM:616833 |
Obesity Due To Sim1 Deficiency |
|
Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Abnormal autonomic nervous ... |
ORPHA:369873 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypertension, Cardiomyopathy, Abnormal aortic morphology, Hyperuricemia, Arr... |
ORPHA:3222 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Abnormal circulating enzyme concentration or activity, Hepatomegaly, Facial hypotonia, Elevated c... |
ORPHA:308552 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Elevated urinary norepine... |
OMIM:171400 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... |
OMIM:218030 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ... |
OMIM:168000 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:616974 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Prolonged QTc interval, Hyp... |
ORPHA:90065 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Abnormal left ventricular function,... |
ORPHA:2041 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Focal Segmental Glomerulosclerosis 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi... |
OMIM:613237 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension |
OMIM:607832 |
Variant Abeta2M Amyloidosis |
|
Abnormal vascular morphology, Chronic kidney disease, Abnormal skeletal muscle morphology, Reduce... |
ORPHA:314652 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Hy... |
OMIM:145600 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Achalasia,... |
ORPHA:324 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Skeletal muscle atrophy, Facial palsy, Hypertension, Hypogonadism, Abnormal au... |
ORPHA:97229 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee... |
ORPHA:3208 |
Neuroleptic Malignant Syndrome |
|
Urinary incontinence, Elevated circulating creatine kinase concentration, Pulmonary embolism, Hyp... |
ORPHA:94093 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Hyperaldosteronis... |
OMIM:214700 |
Relapsing Fever |
|
Elevated hepatic transaminase, Tachycardia, Epistaxis, Elevated circulating C-reactive protein co... |
ORPHA:91547 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Adrenal pheochromocytoma, Glomus jugula... |
OMIM:605373 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... |
OMIM:161950 |
Adenine Phosphoribosyltransferase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Renal insufficiency, Recurrent urinary tra... |
ORPHA:976 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resis... |
ORPHA:280356 |
Hereditary Coproporphyria |
|
Dark urine, Hyponatremia, Tachycardia, Proximal muscle weakness in upper limbs, Abnormal circulat... |
ORPHA:79273 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Ketonuria, Cardiac arrest, Premature thelarche, Elevated circulati... |
OMIM:616878 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... |
OMIM:617610 |
Leprechaunism |
|
Skeletal muscle atrophy, Hepatomegaly, Enlarged ovaries, Long penis, Hyperinsulinemia, Hypercalci... |
ORPHA:508 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Elevated cir... |
OMIM:613095 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Dilation of Virchow-Robin spaces, Transient ischemic attack, Lacunar stroke, Hypertension, Stroke |
OMIM:616779 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephri... |
ORPHA:94080 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:605115 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic... |
ORPHA:276608 |
Liddle Syndrome 2 |
|
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... |
OMIM:618126 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... |
OMIM:614022 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef... |
OMIM:613876 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, I... |
ORPHA:347 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Hypertension, Coronary artery atherosclerosis,... |
ORPHA:79084 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Long penis, Adrenogenita... |
OMIM:202010 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent foramen ovale, Patent duct... |
OMIM:601005 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Stroke, Supraventricula... |
ORPHA:90064 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ... |
OMIM:614492 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating free T4 concentra... |
OMIM:613239 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Splenomegaly, Hematuria, Nephrotic syndrome, Hypertension, Nephropathy |
OMIM:105200 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated creatine kinase afte... |
ORPHA:159 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Optic disc pallor, Hepatomegaly, Tricuspid regurgitation, Ketonuria, Dilated cardiomyopathy, Lact... |
OMIM:619167 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension, Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... |
OMIM:613874 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske... |
OMIM:611705 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong... |
OMIM:614473 |
Liddle Syndrome |
|
Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Arrhythmia |
ORPHA:526 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial f... |
OMIM:613327 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Renal insufficiency, Chro... |
OMIM:203800 |
Potocki-Shaffer Syndrome |
|
Nephroblastoma, Hypertension, Delayed puberty, Micropenis, Hypothyroidism |
ORPHA:52022 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Diabetes mellitus, Elevated circulating creatine kinase concentration, H... |
OMIM:615980 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Prolonged QT interval, Tachycardia, Hepatomegaly, Ventricular sept... |
ORPHA:26793 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont... |
OMIM:615418 |
Pituitary Gigantism |
|
Elevated circulating growth hormone concentration, Hyperhidrosis, Increased circulating insulin-l... |
ORPHA:99725 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Epistax... |
OMIM:614034 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Elevated ci... |
OMIM:617253 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Hyperalaninemia, Decreased level of coenzyme Q10 in skeletal muscle... |
OMIM:614654 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... |
OMIM:615184 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Ragged-red muscle... |
ORPHA:254892 |
Overlap Myositis |
|
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Diabetes mellitus, Abnorm... |
ORPHA:206572 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Abnormal left ventricular ... |
ORPHA:45452 |
Pheochromocytoma |
|
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... |
OMIM:171300 |
Alkaptonuria |
|
Mitral valve calcification, Coronary artery calcification, Aortic valve calcification, Elevated u... |
OMIM:203500 |
Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroid... |
OMIM:603373 |
Intracranial Hypertension, Idiopathic |
|
Hypertension, Papilledema |
OMIM:243200 |
Wolfram Syndrome, Mitochondrial Form |
|
Diabetes mellitus, Hydroureter, Optic atrophy, Abnormal autonomic nervous system physiology, Diab... |
OMIM:598500 |
Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, Exercise-induced rhabdomyolysis, Elevated creatine kinase after exercise, ... |
ORPHA:423 |
Orthostatic Intolerance |
|
Orthostatic tachycardia, Elevated urinary norepinephrine level |
OMIM:604715 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating creatine kinase concent... |
OMIM:300257 |
Myotonic Dystrophy 2 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio... |
OMIM:602668 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Increased urine alpha-ketoglutarate concentration, Left ventricular hypertrophy |
OMIM:614458 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyop... |
ORPHA:746 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Renal salt wasting, Adrenogenital syndrome, Hypertension |
OMIM:201910 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Abnormal autonomic nervous system ... |
ORPHA:101016 |
Glutaric Aciduria Iii |
|
Hyperthyroidism, Glutaric aciduria, Hypertension, Reduced peroxisomal glutaryl-CoA oxidase activi... |
OMIM:231690 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
Acute Intermittent Porphyria |
|
Dark urine, Abnormal circulating enzyme concentration or activity, Renal insufficiency, Tachycard... |
ORPHA:79276 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, A... |
ORPHA:136 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic disc pallor, Skeletal muscle atrophy, Optic atrophy, Left ventricular hypertrophy, Hypertro... |
OMIM:618228 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart ... |
ORPHA:3426 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... |
OMIM:619747 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... |
ORPHA:488627 |
Cocaine Intoxication |
|
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... |
ORPHA:90068 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Hyperkalemia, Stage 5 ... |
OMIM:602088 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Hematuria, Hypertension, S... |
OMIM:617021 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Prominent superficial veins, Insulin-resi... |
OMIM:608600 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Nephropathy, Hypertension, Arterial stenosis |
ORPHA:820 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... |
ORPHA:99105 |
Von Hippel-Lindau Disease |
|
Papilledema, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Myocardial infa... |
ORPHA:892 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Senior-Loken Syndrome |
|
Hypertension, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis |
ORPHA:3156 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Abnormal internal carotid arter... |
ORPHA:365 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Heart block, Elevated circulating creatinine concentr... |
ORPHA:542323 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Hyperthyroidism, Rhabdomyolysis, Hypokalemia, Palpitations, Goiter |
OMIM:188580 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Corticosteroid-Binding Globulin Deficiency |
|
Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp... |
OMIM:611489 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Diabetes mellitus, Hypertriglyceridemia, Maternal di... |
ORPHA:79083 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Stage 5 chronic kidney disease... |
OMIM:166300 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... |
OMIM:615954 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Diabetic... |
OMIM:615238 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Skeletal muscle hypertrophy, Hypertens... |
OMIM:613877 |
Takayasu Arteritis |
|
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vascular... |
ORPHA:3287 |
Scorpion Envenomation |
|
Bundle branch block, Increased circulating NT-proBNP concentration, Hyperhidrosis, Prominent U wa... |
ORPHA:466677 |
Cardiomyopathy, Dilated, 1B |
|
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial con... |
OMIM:600884 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Episodic hyperhidrosis, Cranial nerve compression, Adrenal pheochromocytoma, Positive regitine bl... |
ORPHA:29072 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Hypomimic face, Elevated urinary homovanillic acid, Abnormal autonomic nervous system physiology,... |
OMIM:618049 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Cerebr... |
ORPHA:276621 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Elevated circula... |
ORPHA:97287 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Proteinuria, Weakness of facial musculature, Raynaud phenomenon, Pun... |
ORPHA:247691 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Serotonin Syndrome |
|
Tachycardia, Rhabdomyolysis, Hyperhidrosis, Hypertension, Hypotension, Hepatic failure, Abnormali... |
ORPHA:43116 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Hyperlipidemia, Permanent atrial fibrillation, Inflam... |
ORPHA:31825 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort... |
ORPHA:3093 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Proteinuria, Vulval varicose vein, Hematuria, Varicose vein... |
ORPHA:71273 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... |
ORPHA:1345 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... |
ORPHA:99106 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Ventricular septal defect, Cardiac arrest, Paroxysmal atrial tachycardia, Cong... |
ORPHA:49827 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly elevated creatine kinase, Mil... |
ORPHA:66529 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Tachycardia, Splenomegaly, Congestive heart failure, Increased total bili... |
ORPHA:90037 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:609152 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy, Optic disc pallor |
OMIM:618632 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Hyp... |
OMIM:618886 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Calf muscle pseudohypertroph... |
ORPHA:79086 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Optic disc pallor, Tachycardia, Hypergonadotropic hypogonadism, Lower limb muscle weakness |
OMIM:619737 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Abnormal circulating enzyme concentration or activity, Tachycardia, Optic disc pallor, Abnormal h... |
ORPHA:79264 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Flexion contracture, Hypoalbuminemia, Atrial septal defect, Patent foramen ovale, Tricuspid regur... |
ORPHA:505248 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... |
ORPHA:280679 |
Dietary Iron Overload Disease |
|
Viral hepatitis, Hepatomegaly, Diabetes mellitus, Congestive heart failure, Abnormal thyroid morp... |
ORPHA:139507 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Aminoaciduria, Glyco... |
OMIM:618913 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Eleva... |
OMIM:618620 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Stiff-Person Syndrome |
|
Tachycardia, Diabetes mellitus, Hyperhidrosis, Hypertension, Proximal limb muscle stiffness, Asym... |
OMIM:184850 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Left ventricular hypertrophy, Micropenis, Internal hemorrhage, Right ventricular hyp... |
ORPHA:335 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Hyperhidrosis, Displacement of... |
ORPHA:1329 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr... |
ORPHA:534 |
Extracranial Carotid Artery Aneurysm |
|
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Upper limb muscle weakness, Hypertension,... |
ORPHA:494424 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Diabetes mellitus, Dysuria, Neph... |
ORPHA:3463 |
Stiff Skin Syndrome |
|
Nephrolithiasis, Abnormal circulating lipid concentration, Hypertension, Type II diabetes mellitus |
ORPHA:2833 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... |
OMIM:619566 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Elevated urinary cate... |
OMIM:115310 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Atr... |
OMIM:615355 |
Polyarteritis Nodosa |
|
Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, R... |
ORPHA:767 |
Alport Syndrome |
|
Mesangial hypercellularity, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 deposition, Thi... |
ORPHA:63 |
Nelson Syndrome |
|
Increased urinary cortisol level, Lower limb muscle weakness, Quadriceps muscle atrophy, Pituitar... |
ORPHA:199244 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hyperinsulinemia, Hypertension, Myopathy |
ORPHA:363400 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Prominent superficial veins, Hypertriglyceridemia, Mater... |
OMIM:604367 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Hypercalcemi... |
ORPHA:97289 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Facial hypotonia, Hyperkalemia, Renal hypopl... |
OMIM:617595 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... |
ORPHA:758 |
Denys-Drash Syndrome |
|
Proteinuria, Nephrotic syndrome, Hypertension, Nephropathy, Nephroblastoma |
ORPHA:220 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Thickening of the tubular basement membrane, Portal hypertension, ... |
ORPHA:84081 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypoplasia of penis, Abnormal autonomic nervous system physiology, Cardiac arrest, Arrhythmia |
ORPHA:168593 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Facial palsy... |
ORPHA:31826 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... |
OMIM:615862 |
Secondary Intestinal Lymphangiectasia |
|
Right ventricular failure, Reduced circulating transferrin concentration, Intestinal bleeding, Hy... |
ORPHA:90363 |
Atrial Fibrillation, Familial, 15 |
|
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... |
OMIM:615770 |
Grange Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... |
ORPHA:79094 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adeno... |
ORPHA:79644 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Puberty and gonadal disorders, ... |
ORPHA:525731 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Cholera |
|
Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypo... |
ORPHA:173 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Hyperhidrosis, Abnormal ... |
ORPHA:99827 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Muscular dystrophy |
OMIM:613153 |
Schimke Immuno-Osseous Dysplasia |
|
Proteinuria, Abnormality of thyroid physiology, Transient ischemic attack, Minimal change glomeru... |
ORPHA:1830 |
Mucopolysaccharidosis, Type X |
|
Aortic regurgitation, Thickened aortic valve cusp, Nephrolithiasis, Dermatan sulfate excretion in... |
OMIM:619698 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Tachycardia, Splenomegaly, Jaundice, Congestive heart failure |
ORPHA:90033 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Renal insufficiency, Membranoproliferative glomerul... |
ORPHA:91139 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension, Multicystic kidney dysplasia |
ORPHA:2111 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Mitral valve prolapse, Hypertension, Mitral regurgitation, Polycystic kidney... |
OMIM:173900 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Elevated circulating C-reactive protein concentration, Elevated circulating creatini... |
ORPHA:91500 |
Mercury Poisoning |
|
Tachycardia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury |
ORPHA:330021 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Coronary artery calcification, Congestive heart failure, Car... |
OMIM:208000 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Proteinuria, Transient ischemic attack, Elevated circulating thyroid-stimula... |
OMIM:242900 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Decreased muscle mass, Renal agenesis, Maternal diabet... |
ORPHA:3027 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Renal insufficiency, Recurrent urinary tract infections, Tachycardia, Glomerulonephritis, ... |
ORPHA:36234 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... |
OMIM:264800 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Hypertension, Hyperechogenic kidneys, Elevated circulating creatin... |
OMIM:619111 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fib... |
ORPHA:1349 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Optic disc pallor, Hepatomegaly, Unilateral renal agenesis, Portal... |
OMIM:216360 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Skeletal muscle atrophy, Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertens... |
OMIM:219080 |
Rhabdoid Tumor |
|
Renal neoplasm, Hypercalcemia, Hematuria, Hypertension, Internal hemorrhage |
ORPHA:69077 |
Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, De... |
OMIM:616299 |
Glucocorticoid Resistance, Generalized |
|
Increased circulating ACTH level, Hypertension, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
Familial Dysautonomia |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Orthostatic hypotension, Tachycardia, Abnormal... |
ORPHA:1764 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... |
OMIM:256100 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Episodic hyperhidrosis, Elevated circulating creatinine con... |
OMIM:223900 |
Porphyria, Acute Intermittent |
|
Tachycardia, Dysuria, Urinary incontinence, Hypertension, Urinary retention, Elevated urinary del... |
OMIM:176000 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... |
ORPHA:137675 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Decreased circulating cortisol level, Orthostatic hypotension, Optic atrophy, Adrenocorticotropin... |
OMIM:231550 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:145260 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Tachycardia... |
ORPHA:348 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Leber Hereditary Optic Neuropathy |
|
Retinal telangiectasia, Optic atrophy, Ventricular preexcitation, Myopathy, Arrhythmia |
ORPHA:104 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ab... |
ORPHA:980 |
Hydroxykynureninuria |
|
Renal tubular acidosis, Tachycardia, Abnormal circulating tryptophan concentration, Hypotension |
ORPHA:79155 |
Arteriosclerosis, Severe Juvenile |
|
Myocardial infarction, Central retinal vessel vascular tortuosity, Chronic kidney disease, Calcif... |
OMIM:208060 |
Homozygous Familial Hypercholesterolemia |
|
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... |
ORPHA:391665 |
Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Aortopulmonary wi... |
ORPHA:97214 |
Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Elevated circulating C-reactive protein concentration, Splenomegaly, J... |
ORPHA:90051 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Bardet-Biedl Syndrome |
|
Skeletal muscle atrophy, Multicystic kidney dysplasia, Hypoplasia of penis, Nephrotic syndrome, H... |
ORPHA:110 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Tachycardia, Elevated carcinoembryonic antigen level,... |
ORPHA:264675 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Urinary incontinence, Cardiomegaly, Stroke-like episode, Cardiomyopathy, Abnormal autonomic nervo... |
OMIM:105210 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Tachycardia, Increased total bilirubin |
ORPHA:90036 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... |
ORPHA:49041 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy, Optic atrophy, Nonketotic hyperglycinemia |
ORPHA:401866 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... |
ORPHA:95717 |
Developmental And Epileptic Encephalopathy 109 |
|
Left ventricular hypertrophy |
OMIM:620145 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... |
ORPHA:95716 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism, Hypohidrosis |
ORPHA:181 |
16P12.1P12.3 Triplication Syndrome |
|
Tachycardia, Decreased response to growth hormone stimulation test, Abnormal heart morphology, Ab... |
ORPHA:485405 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Calcium nephrolithiasis, Autoimmune hypoparathyroidism, Abnormal left vent... |
ORPHA:36913 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... |
ORPHA:99094 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Hyponatremia, Abnormal autonomic nervous system physiology, Hypothyroidism, ... |
ORPHA:83601 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T... |
OMIM:301050 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Transient ... |
ORPHA:183 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperte... |
ORPHA:77296 |
Hardikar Syndrome |
|
Atrial septal defect, Vesicoureteral reflux, Patent foramen ovale, Bladder exstrophy, Hepatomegal... |
OMIM:301068 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood... |
ORPHA:251004 |
Melorheostosis With Osteopoikilosis |
|
Hypertension |
ORPHA:1879 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Aganglionic megacolon, Abnormality of the kidney, Nephrogenic diabetes insipid... |
OMIM:209900 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Ventricular septa... |
OMIM:613404 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... |
ORPHA:169186 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal cerebral vascular morphology, Raynaud phenomenon, Hypertension, Stroke, Moyamoya phenomenon |
ORPHA:401945 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, Abnormal autonomic nervous system physiology, Bradycardia, Joint contracture, Limb... |
OMIM:614498 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Pituitary adenoma, Nephrolithiasis, Increased circulating ACTH level, Hy... |
OMIM:219090 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Hyperhidrosis, Cardiomyopathy, Paroxysmal ventric... |
ORPHA:34217 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Ischemic stroke, Stroke |
OMIM:182410 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:98855 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Congestive heart failu... |
ORPHA:363618 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Mitchell Syndrome |
|
Limb muscle weakness, Abnormal autonomic nervous system physiology |
OMIM:618960 |
Multiple Endocrine Neoplasia Type 2 |
|
Hyperhidrosis, Elevated circulating parathyroid hormone level, Pheochromocytoma, Ganglioneuromato... |
ORPHA:653 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy... |
OMIM:123550 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Dilatation of the cerebral artery, Decreased liver function, Polycystic kidney dysp... |
OMIM:600666 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... |
OMIM:617168 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Chronic kidney disease, Renal tubular dysfunction, Tubul... |
ORPHA:330015 |
Multiple System Atrophy |
|
Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ... |
ORPHA:102 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypertension, Pollakisuria, Abnormal autonomic nervous system physiology, Hypotension, Urinary bl... |
ORPHA:93256 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Alagille Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Ventricular septal defect, Renal hypoplasia/aplasia, Ab... |
ORPHA:52 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Left ventricular hypertrophy, Abnormal heart valve... |
ORPHA:230851 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... |
OMIM:201750 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Precocious atherosclerosis,... |
ORPHA:280365 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... |
OMIM:615812 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Papilledema, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Premature th... |
ORPHA:371428 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima... |
OMIM:615830 |
Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:98853 |
Glycogen Storage Disease Xv |
|
Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par... |
OMIM:613507 |
Multiple System Atrophy, Parkinsonian Type |
|
Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ... |
ORPHA:98933 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Arthrogryposis ... |
OMIM:232500 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Elevated urinary dopamine level, Horner syndrome, Abnormali... |
OMIM:256700 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia, Streak ovary, Hypospadias, Abnormality of the kidney, Bicuspi... |
ORPHA:1772 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:98863 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia, Hypoproteinemia |
OMIM:221400 |
Fibromuscular Dysplasia, Arterial |
|
Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudication, Aortic disse... |
OMIM:135580 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... |
OMIM:232300 |
Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... |
ORPHA:229 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
Multiple System Atrophy, Cerebellar Type |
|
Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ... |
ORPHA:227510 |
Mirizzi Syndrome |
|
Dark urine, Elevated hepatic transaminase, Tachycardia, Jaundice, Elevated circulating alkaline p... |
ORPHA:521219 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... |
OMIM:239850 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Ischemic stroke, Achalasia, Moyamoya phenomenon |
OMIM:615750 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria,... |
ORPHA:900 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Tachycardia, Increased urinary glycerol |
OMIM:229700 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Absent brainstem auditory responses, Renal insufficiency, Hepatome... |
ORPHA:90321 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Hypothyroidism, Abnormal ... |
ORPHA:453499 |
Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Hematuria, Hypertension,... |
OMIM:603903 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Distal amyotrophy, Abnormal autonomic nervous system p... |
ORPHA:139578 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Hypertension, Abnormality of the adrenal glands, Neoplasm of the adr... |
ORPHA:251992 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Camptodactyly, Left ventricular hype... |
OMIM:611209 |
Werner Syndrome |
|
Renal neoplasm, Skeletal muscle atrophy, Telangiectasia of the skin, Myocardial infarction, Abnor... |
ORPHA:902 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Viral hepatitis, Abnormal circulating protein concentration, Membranoprolife... |
ORPHA:48435 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c... |
ORPHA:361 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Tachycardia, Myositis, Dupuytren contract... |
ORPHA:39812 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Abnormal autonomic nervous system physiology, Hyperhidrosis |
OMIM:615548 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... |
OMIM:614748 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Adrenocortical adenoma, P... |
ORPHA:139411 |
Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Atrial septal defect, Ventricular septal def... |
OMIM:208085 |
Persistent Idiopathic Facial Pain |
|
Abnormal autonomic nervous system physiology |
ORPHA:398147 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Hypospadias, Penoscrotal transposition, Patent ductus arteriosus, Small thenar eminence, Pulmonic... |
OMIM:619148 |
Spondyloenchondrodysplasia |
|
Proteinuria, Decreased response to growth hormone stimulation test, Raynaud phenomenon, Chronic k... |
ORPHA:1855 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Pulmonary embolism, Hyperlipidemia, Chronic kidney disease, St... |
ORPHA:567546 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ventricular septal d... |
ORPHA:411709 |
Alkaptonuria |
|
Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Coronary arte... |
ORPHA:56 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Renal artery aneurysm, Portal hypertension, Elevated... |
OMIM:615688 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Abn... |
ORPHA:447 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
Vici Syndrome |
|
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Congestive hear... |
OMIM:242840 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... |
ORPHA:99103 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Hepatomegaly, ... |
OMIM:151660 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar... |
OMIM:616564 |
Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Shock, Renal insufficiency, Tachycardia, Pericarditis, Elevated ci... |
ORPHA:99826 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... |
ORPHA:1652 |
Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen... |
OMIM:618280 |
Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Hypert... |
OMIM:617913 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Hypoperistalsis,... |
OMIM:613834 |
Rett Syndrome |
|
Increased serum pyruvate, Skeletal muscle atrophy, Hyperammonemia, Abnormal autonomic nervous sys... |
ORPHA:778 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614495 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Absence of renal corticomedullary differentiation, Secundum atrial septal defect, Renal hypoplasi... |
OMIM:619758 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao... |
ORPHA:3400 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Coarctation of aorta, N... |
OMIM:617729 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Thyrotoxic Periodic Paralysis |
|
Decreased urinary potassium, Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Impaired myocardi... |
ORPHA:79102 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension, Coarctation of aorta |
OMIM:616069 |
Erythermalgia, Primary |
|
Abnormal autonomic nervous system physiology, Xerostomia, Palpitations, Hyperhidrosis |
OMIM:133020 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Optic atrophy, Hypertension, Hyp... |
OMIM:610965 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Pr... |
OMIM:619127 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Abnormal circulating enzyme concentration or activity, Hepatomegaly, Hypertriglyceridemia, Protei... |
ORPHA:79259 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Centrally nucleate... |
OMIM:617072 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Patent ductus art... |
OMIM:613610 |
Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
Methylcobalamin Deficiency Type Cble |
|
Glomerulopathy, Hypomethioninemia, Hemolytic-uremic syndrome, Hyperhomocystinemia, Hypertension, ... |
ORPHA:2169 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614496 |
Nephroblastoma |
|
Hematuria, Hypertension, Nephroblastoma |
ORPHA:654 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Hyper... |
OMIM:614736 |
Multiple System Atrophy 1, Susceptibility To |
|
Anhidrosis, Orthostatic hypotension, Skeletal muscle atrophy, Urinary incontinence, Hypohidrosis,... |
OMIM:146500 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo... |
ORPHA:913 |
Alexander Disease |
|
Diabetes mellitus, Facial palsy, Sudden cardiac death, Precocious puberty, Hyperhidrosis, Hyperte... |
ORPHA:58 |
Alexander Disease Type Ii |
|
Limb muscle weakness, Urinary bladder sphincter dysfunction, Abnormal autonomic nervous system ph... |
ORPHA:363722 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Bilateral renal agenesis, Proteinuria, Renal dysplasia |
OMIM:191830 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormal ao... |
ORPHA:1166 |
Livedoid Vasculopathy |
|
Diabetes mellitus, Telangiectasia of the skin, Abnormal capillary morphology, Abnormality of the ... |
ORPHA:542643 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Myxopapillary Ependymoma |
|
Autonomic bladder dysfunction |
ORPHA:251643 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Diabetes mellitus, Hyperthyroidism, Mitral valve prolapse, Hypertension, Aortic root aneurysm, Hy... |
ORPHA:449291 |
Mccune-Albright Syndrome |
|
Hyperphosphaturia, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocious... |
ORPHA:562 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Neurogenic bladder, Multiple joint contractures, Optic atrophy, Hepatosplenomegaly, Abnormal auto... |
ORPHA:466934 |
Cirrhosis, Familial |
|
Jaundice, Fulminant hepatitis, Increased level of L-fucose in urine, Hypertension, Increased leve... |
OMIM:215600 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Decreased circulating copper concentration, Urinary incontinence, Subara... |
ORPHA:139417 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:329284 |
Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
Paroxysmal Hemicrania |
|
Hypertension, Diabetes mellitus |
ORPHA:157835 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:610743 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Atrial septal defect, Hepatomegaly, Cardiomegaly, Optic atro... |
ORPHA:79330 |
Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Adrenal calcification, Cardiomegaly, Abnormal retinal art... |
ORPHA:51608 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Abnormal autonomic nervous system physiology |
OMIM:617935 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia, Abnormal autonomic nervous system physiology |
ORPHA:163921 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Diabetes mellitus, Intrahepatic cholestasis, Hypertension, Elevate... |
ORPHA:69663 |
X-Linked Intellectual Disability, Hedera Type |
|
Left ventricular hypertrophy, Hypomimic face |
ORPHA:93952 |
Nestor-Guillermo Progeria Syndrome |
|
Prominent superficial veins, Left atrial enlargement, Decreased serum leptin, Flexion contracture... |
OMIM:614008 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Abnormal autonomic nervous system physiology |
ORPHA:101046 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Elevated circulating cre... |
ORPHA:268 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension, Hyperkalemia |
ORPHA:757 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Anhidrosis, Recurrent urinary tract infections, Orthostatic hypotension, Abnormal auditory evoked... |
ORPHA:99027 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Goiter, Elevated circulat... |
ORPHA:90673 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
Melkersson-Rosenthal Syndrome |
|
Macroglossia, Abnormal autonomic nervous system physiology, Facial palsy, Oligosacchariduria |
ORPHA:2483 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Abnormal cerebral vascular morphology, Primary adrenal i... |
ORPHA:3453 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Anhidrosis, Urinary incontinence, Hypohidrosis, Abnormal autonomic nervous system physiology, Abn... |
OMIM:243000 |
Joubert Syndrome 14 |
|
Ventricular septal defect, Optic atrophy, Renal cyst, Intracranial hemorrhage, Hypertension |
OMIM:614424 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
Leukodystrophy, Hypomyelinating, 12 |
|
Neurogenic bladder, Flexion contracture, Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:616683 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy |
OMIM:618321 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Hyperammonemia, Hypertension, 3-Methylglutaconic aciduria, Arrhythmia, Hyperalaninem... |
OMIM:614052 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth h... |
ORPHA:79443 |
Distal Deletion 12Q |
|
Diabetes mellitus, Maturity-onset diabetes of the young, Ectopic kidney, Pituitary adenoma, Paten... |
ORPHA:96149 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology |
DECIPHER:59 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Pancreatic endocrine tumor, Pituitary adenoma, Ch... |
ORPHA:805 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Myocardial infarction, Elevated circulating creatinine concentration, Hemog... |
ORPHA:90038 |
Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Atrial fibrillation, Arterial dissection, Camptodactyly of finger, Arterial... |
ORPHA:284984 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... |
ORPHA:199296 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Tularemia |
|
Tachycardia |
ORPHA:3392 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal circulating enzyme concentration or activity, Papilledema, Abnormal heart valve morpholo... |
ORPHA:217085 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Chronic pancreatitis, Stage 5 chronic kidney disease, H... |
OMIM:613159 |
Neuroendocrine Neoplasm Of Appendix |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid stenosis, Heart murmur, Adrenocorticotropi... |
ORPHA:100079 |
Machado-Joseph Disease |
|
Distal amyotrophy, Urinary bladder sphincter dysfunction, Abnormal autonomic nervous system physi... |
OMIM:109150 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Hematemesis, Increased circulating ferritin concentration, Pericardial effusion, Va... |
OMIM:615846 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal circulating enzyme concentration or activity, Papilledema, Abnormal heart valve morpholo... |
ORPHA:217093 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Flexion contracture, X... |
ORPHA:220393 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Vascular dilatation, Cardiomegaly |
OMIM:613320 |
Rh Deficiency Syndrome |
|
Tachycardia, Jaundice, Hepatosplenomegaly, Hyperbilirubinemia, Increased circulating lactate dehy... |
ORPHA:71275 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Diabetes mellitus, Anuria, Pancreatitis, Myocarditis, Hyperkalemia, Oliguria, Hyper... |
ORPHA:544482 |
Infantile Neuroaxonal Dystrophy |
|
Flexion contracture, Optic atrophy, Abnormal autonomic nervous system physiology, Increased circu... |
ORPHA:35069 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Fasting hyperinsulinemia, Prematu... |
ORPHA:79474 |
Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Ventricula... |
OMIM:300855 |
Juvenile Paget Disease |
|
Hypertension, Optic atrophy, Hyperuricemia |
ORPHA:2801 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... |
OMIM:618782 |
Sheehan Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating ... |
ORPHA:91355 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra... |
ORPHA:576 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Macrog... |
ORPHA:226313 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist... |
OMIM:300952 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Hyperhidrosis, H... |
OMIM:614653 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... |
ORPHA:3342 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Hurler Syndrome |
|
Hepatomegaly, Angina pectoris, Abnormal heart valve morphology, Camptodactyly of finger, Splenome... |
ORPHA:93473 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Optic atrophy, Stage 5 chronic kidney disease, Hematuria, Hy... |
OMIM:243910 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Urinary incontinence, Congenital contracture, Retinal arteriolar constri... |
ORPHA:191 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Monosomy 18P |
|
Hypertension, Hypothyroidism |
ORPHA:1598 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypertension, Hypothyroidism |
OMIM:617763 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Abnormality of the ureter, Abnor... |
ORPHA:261318 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Fatal Familial Insomnia |
|
Urinary retention, Abnormal autonomic nervous system physiology, Hyperhidrosis |
OMIM:600072 |
Arterial Tortuosity Syndrome |
|
Aortic regurgitation, Ventricular hypertrophy, Carotid artery dissection, Congenital diaphragmati... |
OMIM:208050 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Hypospadias, Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Hyperammonem... |
OMIM:220111 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Hy... |
OMIM:615745 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Autonomic bladder dysfunction, Decreased sweating due to autonomic dysfunction, Autonomic erectil... |
OMIM:169500 |
Vipoma |
|
Hepatomegaly, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating growth hormon... |
ORPHA:97282 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, M... |
ORPHA:904 |
Infant Botulism |
|
Hyponatremia, Cardiac arrest, Xerostomia, Hypertension, Hypotension |
ORPHA:178478 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Arthrogryposis multiplex congenita, Aganglionic megacolon, Abnormal autonomic nervous system phys... |
OMIM:243180 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Melas |
|
Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Nephropathy, Abnormal mitochondria in m... |
ORPHA:550 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
OMIM:619573 |
Inherited Creutzfeldt-Jakob Disease |
|
Vestibular nystagmus, Abnormal autonomic nervous system physiology, Stroke-like episode |
ORPHA:282166 |
Imerslund-Gräsbeck Syndrome |
|
Tachycardia, Proteinuria |
ORPHA:35858 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
Tangier Disease |
|
Accelerated atherosclerosis, Hypertriglyceridemia, Carotid artery stenosis, Hepatosplenomegaly, F... |
ORPHA:31150 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... |
OMIM:245600 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Optic atrophy, Hypogonadotropic hypogonadism, Autonomic bladder dysfunction, Delayed puberty |
ORPHA:447896 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Hyperammonemia, Hypertension, Hyperuricemia, Hypotension |
ORPHA:134 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia... |
OMIM:194080 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Early onset of sexual maturation, V... |
OMIM:194050 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Progressive flexion contractures, Hypertension, Transient hyperphenylalaninemia, Hyp... |
ORPHA:98808 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Tachycardia, Splenomegaly, Syncope, Hypotension, Elevated total serum tryptase |
ORPHA:98849 |
Erythrocytosis, Familial, 1 |
|
Splenomegaly, Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
Postorgasmic Illness Syndrome |
|
Hypertension, Xerostomia, Palpitations, Hyperhidrosis |
ORPHA:279947 |
Systemic Lupus Erythematosus 17 |
|
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis |
OMIM:301080 |
Prader-Willi Syndrome |
|
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... |
ORPHA:739 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Anteri... |
ORPHA:466791 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Facial palsy, ... |
OMIM:610131 |
Smith-Lemli-Opitz Syndrome |
|
Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Atrial septal defect, Micropenis, Penoscrotal h... |
OMIM:270400 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, ... |
OMIM:617397 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Hypertension, Elevated circulating creatinine concentration, Elevated circu... |
ORPHA:79126 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Elevated circulating... |
ORPHA:97283 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Hyponatremia, Decreased response to growth hormone stimulation tes... |
ORPHA:293987 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ... |
ORPHA:99095 |
Ppoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone con... |
ORPHA:97278 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Neonatal hyperbilirubinemia, Pituitary hypothyroidis... |
ORPHA:90674 |
Scimitar Syndrome |
|
Heart block, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Atrial septal defect, Sing... |
ORPHA:185 |
Caribbean Parkinsonism |
|
EMG: myopathic abnormalities, Orthostatic hypotension, Abnormal autonomic nervous system physiolo... |
ORPHA:97355 |
High Altitude Pulmonary Edema |
|
Tachycardia |
ORPHA:330012 |
Degcags Syndrome |
|
Bilateral renal hypoplasia, Atrial septal defect, Diaphragmatic eventration, Patent foramen ovale... |
OMIM:619488 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Atrial septal defect, Hashimoto thy... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Atrial septal defect, Hashimoto thy... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Atrial septal defect, Hashimoto thy... |
ORPHA:99226 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... |
OMIM:609136 |
Turner Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Atrial septal defect, Hashimoto thy... |
ORPHA:881 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Cockayne Syndrome A |
|
Anhidrosis, Renal insufficiency, Hepatomegaly, Proteinuria, Hip contracture, Abnormal auditory ev... |
OMIM:216400 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cor pulmonale, Tubulointerstitial fibrosis |
OMIM:263000 |
Sarcoidosis |
|
Hepatomegaly, Renal insufficiency, Hyperthyroidism, Diabetes insipidus, Abnormal cardiac ventricu... |
ORPHA:797 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Grfoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone con... |
ORPHA:97261 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Prolonged QRS complex, Decreased response to growth hormone stimulation ... |
ORPHA:273 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... |
OMIM:261740 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, He... |
ORPHA:402075 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Hyponatremia, Recurrent urinary tract infections, Renal insufficienc... |
ORPHA:731 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Hypospadias, Abnormality of the thyroid gland, Coarctation of aorta, A... |
ORPHA:1923 |
Alternating Hemiplegia Of Childhood |
|
Facial hypotonia, Cardiac conduction abnormality, Hyperhidrosis, Cardiomyopathy, Abnormal autonom... |
ORPHA:2131 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:605543 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Hypomimic face, Abnormal autonomic nervous system physiology, Urinary incontinence, Abnormal cran... |
ORPHA:247234 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... |
OMIM:617877 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Situs inversus tota... |
OMIM:267010 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Ventricular arrhythmia |
OMIM:141000 |
Tick-Borne Encephalitis |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Facial palsy, Elevated circulating C-reac... |
ORPHA:297 |
Acromegaly |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co... |
ORPHA:963 |
Wagro Syndrome |
|
Hypertension, Nephroblastoma, Proteinuria |
OMIM:612469 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Gaucher Disease, Type I |
|
Hepatomegaly, Epistaxis, Splenomegaly, Hypertension, Mitral regurgitation, Pulmonary arterial hyp... |
OMIM:230800 |
Myhre Syndrome |
|
Abnormal penis morphology, Hypospadias, Precocious puberty, Epispadias, Skeletal muscle hypertrop... |
ORPHA:2588 |
Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Shock, Renal insufficiency, Elevated circulating C-reactive protei... |
ORPHA:319213 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Glandular hypospad... |
ORPHA:1358 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Skeletal muscle atrophy, Proteinuria, Stage 5 chronic kidney disease... |
OMIM:609049 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... |
ORPHA:392 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:605676 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Elevated circulating... |
ORPHA:97280 |
Somatomammotropinoma |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co... |
ORPHA:314769 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Prominent superficial veins, Tricuspid regurgitation, Bicuspid aortic valve... |
OMIM:612289 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Cerebral artery stenosis, Rhabdomyosarcoma, Precocious puberty, Abnor... |
ORPHA:97685 |
Poliomyelitis |
|
Skeletal muscle atrophy, Abnormal motor nerve conduction velocity, Hypoplasia of the musculature,... |
ORPHA:2912 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Anhidrosis, Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system... |
OMIM:256800 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Papilledema, Ventricular septal defect, Elevated circulating creati... |
OMIM:618775 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu... |
ORPHA:99050 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Optic disc pallor, Ventricular septal defect, Optic atrophy, Shor... |
OMIM:614947 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the... |
ORPHA:99889 |
Stuve-Wiedemann Syndrome 1 |
|
Elbow flexion contracture, Pulmonary arterial medial hypertrophy, Knee flexion contracture, Contr... |
OMIM:601559 |
Parkinsonian-Pyramidal Syndrome |
|
Neurogenic bladder, Abnormal autonomic nervous system physiology, Hypomimic face |
ORPHA:171695 |
22Q11.2 Deletion Syndrome |
|
Abnormal aortic arch morphology, Hypoplasia of the thymus, Hypocalcemia, Atrial septal defect, Ve... |
ORPHA:567 |
Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Carotid artery occlusion, Mit... |
ORPHA:740 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Polyuria, Pulmonary arteriovenous malformation, Hy... |
OMIM:606721 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Congestive heart failure, Cardiac myxoma, Renal h... |
OMIM:181270 |
Primary Progressive Freezing Gait |
|
Hypertension, Urinary incontinence |
ORPHA:75567 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Periodic Fever, Menstrual Cycle-Dependent |
|
Increased circulating cortisol level |
OMIM:614674 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Pericarditis, Facial palsy, Camptodactyly of finger, Splenomegal... |
ORPHA:90340 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Mitral valve ... |
OMIM:611962 |
Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Patent ductus arteriosus, Xerostomia, Abnormal autonomic nervous system ph... |
ORPHA:1051 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, ... |
ORPHA:580 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Parkinson Disease, Late-Onset |
|
Urinary urgency, Abnormal autonomic nervous system physiology |
OMIM:168600 |
Von Hippel-Lindau Syndrome |
|
Hypertension, Renal cell carcinoma, Multiple renal cysts, Pheochromocytoma, Paraganglioma |
OMIM:193300 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Optic nerve hypoplasia, Congenital fibrosis of extraocular muscles, Torticollis, Abnormal autonom... |
ORPHA:300570 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Hypercalcemia, ... |
OMIM:131100 |
Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hy... |
ORPHA:2750 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... |
ORPHA:249 |
Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
ORPHA:2388 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... |
ORPHA:1677 |
Classic Homocystinuria |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Opt... |
ORPHA:394 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hypertension, Scapular winging, Aortic root aneurysm, Mitral valve prolapse |
OMIM:616914 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Aganglionic megacolon, Decreased heart rate variability, Hyperhidrosis, Abnormal autonomic nervou... |
OMIM:209880 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Cockayne Syndrome B |
|
Anhidrosis, Renal insufficiency, Hepatomegaly, Proteinuria, Abnormal auditory evoked potentials, ... |
OMIM:133540 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Bacterial endocarditis, Premature ventricular contraction |
ORPHA:1964 |
Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... |
ORPHA:542306 |
Au-Kline Syndrome |
|
Chronic kidney disease, Dilatation of the renal pelvis, Hypertension, Aortic root aneurysm, Vesic... |
OMIM:616580 |
Orofaciodigital Syndrome I |
|
Proteinuria, Abnormal heart morphology, Hypertension, Polycystic kidney dysplasia, Vascular dilat... |
OMIM:311200 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Abnormal autonomic nervous system physiology |
OMIM:300894 |
Meacham Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus t... |
ORPHA:3097 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula... |
OMIM:218700 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating... |
ORPHA:64 |
Yellow Fever |
|
Shock, Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating aspartate aminotrans... |
ORPHA:99829 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Episodic hypertension |
OMIM:619483 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Hepatomegaly, Stage 5 chronic kidney disease, Renal cyst, Hepatosplenomegal... |
OMIM:266920 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Atrial septal defect, Hip contracture, Ventricular septal defect, Shoulder flexion contracture, M... |
OMIM:210710 |
Leprosy |
|
Skeletal muscle atrophy, Epistaxis, Abnormality of the seventh cranial nerve, Hypohidrosis, Abnor... |
ORPHA:548 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Systemic Lupus Erythematosus |
|
Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, Hypertension |
ORPHA:536 |
Familial Pseudohyperkalemia |
|
Hypertension, Hyperkalemia |
ORPHA:90044 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Overriding aorta, Hypospadias, Ventricular septal defect, Congenital diaphr... |
OMIM:309801 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... |
OMIM:614823 |
Neurofibromatosis, Type I |
|
Rhabdomyosarcoma, Hypertension, Pheochromocytoma, Renal artery stenosis, Parathyroid adenoma |
OMIM:162200 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypertension, Optic atrophy, Hypospadias |
OMIM:123790 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Ureteral duplication, Right atrial isomerism, Ureteral stenosis, Vent... |
OMIM:270100 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology |
OMIM:614575 |
Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating growth hormone ... |
ORPHA:1359 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Raynaud phenomenon, Hypothyroidism, Tubulointerstitial fibrosis |
OMIM:607944 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Marshall-Smith Syndrome |
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Ventricular septal defect, Optic nerve hypoplasia, Patent ductus arteriosus, Premature ventricula... |
OMIM:602535 |
Pagod Syndrome |
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Multicystic kidney dysplasia, Sudden cardiac death, Renal hypoplasia/aplasia, Situs inversus tota... |
ORPHA:991 |
Nmda Receptor Encephalitis |
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Orthostatic hypotension, Orthostatic tachycardia, Neoplasm of the thymus, Abnormal autonomic nerv... |
ORPHA:217253 |
Ebstein Anomaly |
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Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
Haddad Syndrome |
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Aganglionic megacolon, Abnormal autonomic nervous system physiology |
ORPHA:99803 |
Isolated Ectopia Lentis |
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Hypertension |
ORPHA:1885 |
Myhre Syndrome |
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Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Generalized muscle hyp... |
OMIM:139210 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
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Hypertension, Optic atrophy |
ORPHA:1555 |
Adams-Oliver Syndrome 1 |
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Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypertension, Hypopl... |
OMIM:100300 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
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Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
Heterotaxy, Visceral, 12, Autosomal |
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Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Young-Onset Parkinson Disease |
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Abnormal autonomic nervous system physiology |
ORPHA:2828 |
Vascular Ehlers-Danlos Syndrome |
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Internal hemorrhage, Peripheral arteriovenous fistula, Hypospadias, Varicose veins, Hypokalemia, ... |
ORPHA:286 |
Stüve-Wiedemann Syndrome |
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Camptodactyly of finger, Flexion contracture, Elbow flexion contracture, Hypohidrosis, Hyperhidro... |
ORPHA:3206 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
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Abnormal autonomic nervous system physiology |
OMIM:617903 |
Lambert-Eaton Myasthenic Syndrome |
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Xerostomia, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomi... |
ORPHA:43393 |
Neurofibromatosis Type 1 |
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Abnormality of the upper urinary tract, Abnormality of the endocrine system, Precocious puberty, ... |
ORPHA:636 |
Yunis-Varon Syndrome |
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Hypospadias, Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Hypertension, Ca... |
ORPHA:3472 |
Progressive Familial Heart Block, Type Ib |
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Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Apert Syndrome |
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Hypertension, Optic atrophy |
ORPHA:87 |
Combined Oxidative Phosphorylation Defect Type 29 |
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Abnormal autonomic nervous system physiology, Optic neuropathy |
ORPHA:478029 |
Legius Syndrome |
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Paroxysmal atrial tachycardia, Nephrolithiasis, Mitral valve prolapse, Xanthelasma, Vestibular sc... |
ORPHA:137605 |
Congenital Disorder Of Glycosylation, Type Iim |
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Vesicovaginal fistula, Hypertension, Atrial septal defect, Ureteropelvic junction obstruction, Ne... |
OMIM:300896 |
Plague |
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Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Endocarditis, Hypotension, Arrhythmia |
ORPHA:707 |
Blau Syndrome |
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Pericarditis, Camptodactyly of finger, Tendonitis, Hypertension, Flexion contracture of toe, Abno... |
OMIM:186580 |
Hallermann-Streiff Syndrome |
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Hypertension, Optic disc coloboma, Pulmonary arterial hypertension, Telangiectasia |
OMIM:234100 |
Gapo Syndrome |
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Hepatomegaly, Prominent scalp veins, Facial palsy, Retinal arteriolar tortuosity, Optic atrophy, ... |
OMIM:230740 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
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Abnormal autonomic nervous system physiology |
OMIM:616840 |
Cutis Marmorata Telangiectatica Congenita |
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Hypertension, Telangiectasia |
OMIM:219250 |
Familial Osteodysplasia, Anderson Type |
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Hypertension, Hyperuricemia |
ORPHA:2769 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Aganglionic... |
OMIM:308205 |
Atrial Tachyarrhythmia With Short Pr Interval |
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Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Keutel Syndrome |
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Ventricular septal defect, Hypertension, Pulmonary artery hypoplasia, Pulmonic stenosis, Peripher... |
OMIM:245150 |
Neonatal Inflammatory Skin And Bowel Disease |
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Left ventricular hypertrophy |
ORPHA:294023 |