Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Renal sodium wasting, Orthos... |
ORPHA:556037 |
Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Renal sodium wasting, Orthos... |
ORPHA:556030 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Orthostatic hypotension, Inc... |
OMIM:610600 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Renal salt wasting, Increase... |
OMIM:203400 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Hypomagnese... |
OMIM:601198 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, ... |
ORPHA:85450 |
Autosomal Dominant Polycystic Kidney Disease |
|
Abnormal systemic arterial morphology, Hypertension, Mitral valve prolapse, Pituitary growth horm... |
ORPHA:730 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hypertension, Decreased circulating renin level, Abnormality of the urinary ... |
OMIM:103900 |
Adrenocortical Carcinoma |
|
Hypertension, Increased urinary cortisol level, Increased circulating androstenedione concentrati... |
ORPHA:1501 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hypera... |
OMIM:264350 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Prolonged QT interval, Hypokalemia, A... |
ORPHA:251274 |
Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Decreased circulating aldosterone level, Ortho... |
ORPHA:427 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Myopathy, Nephrotic syndrome, Elevated circulating creatine kinase concentration, C... |
OMIM:617713 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Hypertension, Ventricular septal defect, Intracranial hemorrhage, Hypokalemi... |
ORPHA:369929 |
Bartter Syndrome, Type 3 |
|
Renal salt wasting, Hyperactive renin-angiotensin system, Hypokalemia, Increased urinary potassiu... |
OMIM:607364 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Decreased plasma free carnitine, Ventricular hypertrophy, Bradycardia, Hyperalanine... |
OMIM:619048 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hypera... |
OMIM:177735 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level, Hypokal... |
ORPHA:320 |
Oligomeganephronia |
|
Bilateral renal hypoplasia, Renal tubular atrophy, Hypertension, Abnormal nephron morphology, Abn... |
ORPHA:2260 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hypertension, Decreased circulating renin level, Hypokalemia, Hyperaldostero... |
OMIM:613677 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Myopathy, Elevated circulating creatine kinase concentration, Supraventricular tachycardia, Cardi... |
OMIM:255100 |
East Syndrome |
|
Renal salt wasting, Renal sodium wasting, Hypokalemia, Hypomagnesemia, Hyperaldosteronism, Abnorm... |
ORPHA:199343 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
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Hypertension, Intracranial hemorrhage, Abnormal T-wave, Neoplasm of the adrenal gland, Decreased ... |
ORPHA:231625 |
Maternally-Inherited Diabetes And Deafness |
|
Hypertrophic cardiomyopathy, Hypertension, Type II diabetes mellitus, Abnormal circulating lipid ... |
ORPHA:225 |
Acute Adrenal Insufficiency |
|
Hyperkalemia, Hypercalcemia, Hyponatremia, Androgen insufficiency, Decreased circulating aldoster... |
ORPHA:95409 |
Hypokalemic Tubulopathy And Deafness |
|
Renal salt wasting, Increased circulating renin level, Hyperaldosteronism |
OMIM:619406 |
Gitelman Syndrome |
|
Prolonged QT interval, Hypokalemia, Palpitations, Ventricular tachycardia, Rhabdomyolysis, Hypoma... |
OMIM:263800 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Hyponatremia, Hyperkalemia, Increased serum testosterone level, Decreased circulatin... |
ORPHA:90791 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Hypertension, Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy, Congestive heart ... |
OMIM:540000 |
Glycogen Storage Disease Ia |
|
Decreased muscle mass, Focal segmental glomerulosclerosis, Hypertension, Hepatomegaly, Hyperlipid... |
OMIM:232200 |
Andersen-Tawil Syndrome |
|
Dilated cardiomyopathy, Renal hypoplasia, Syncope, Renal tubular dysfunction, Prominent U wave, B... |
ORPHA:37553 |
Lcat Deficiency |
|
Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis, Decreased glo... |
ORPHA:650 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Hyponatremia, Hypovolemic shock, Abnormal circulating aldosterone, Glucocortocoid-i... |
ORPHA:171876 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Episodic hyperhidrosis, Focal pancreatic isle... |
ORPHA:276575 |
Coproporphyria, Hereditary |
|
Hypertension, Hepatomegaly, Tachycardia, Splenomegaly, Increased urinary porphobilinogen, Elevate... |
OMIM:121300 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Absent muscle dystrop... |
ORPHA:206546 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... |
OMIM:601493 |
Trimethylaminuria |
|
Trimethylaminuria, Hypertension, Tachycardia, Splenomegaly |
OMIM:602079 |
Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Hypertension, Proteinuria |
OMIM:189800 |
Fabry Disease |
|
Hypertension, Lipiduria, Abnormal autonomic nervous system physiology, Urinary mulberry cells, Ve... |
OMIM:301500 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormality of blood circulation, Abnormal coronary artery morphology, Levotransposition of the g... |
ORPHA:860 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Renal hypoplasia, Hypertension, Tubulointerstitial nephritis, Renal cortic... |
OMIM:174000 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Proximal amyotrophy, Hypertension, Increased urinary cortisol level, Macronodular adrenal hyperpl... |
ORPHA:189427 |
Preeclampsia |
|
Hypertension, Elevated diastolic blood pressure, Elevated hepatic transaminase, Elevated circulat... |
ORPHA:275555 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Ex... |
ORPHA:276580 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypertension, Ventricular septal defect, Biventricular hypertrophy, Decreased circulating renin l... |
OMIM:615474 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Myocardial... |
ORPHA:54370 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Cerebral artery atherosclerosis, Hypertension, Nephrotic syndrome, Abnormal mitral valve morpholo... |
ORPHA:1192 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... |
OMIM:604169 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Tub... |
OMIM:602522 |
Glycogen Storage Disease Ib |
|
Hypertension, Focal segmental glomerulosclerosis, Hepatomegaly, Hyperlipidemia, Decreased glomeru... |
OMIM:232220 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Hypertension, Decreased circulating renin level, Hypokalemia, Palpitations, ... |
ORPHA:231580 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinu... |
OMIM:137950 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Episodic hyperhidrosis, Excessive insulin res... |
ORPHA:276556 |
Bartter Syndrome, Type 1, Antenatal |
|
Hypercalcemia, Hyperactive renin-angiotensin system, Renal juxtaglomerular cell hypertrophy/hyper... |
OMIM:601678 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Hyp... |
OMIM:613090 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Elevated circulating follicle stimulating hormone level, Midshaft hypospadias, Urogenital sinus a... |
ORPHA:289548 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension, Proteinuria, Nephropathy |
ORPHA:2820 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Abnormal magnesium concentration, Hypokalemia, Increased serum prostaglandin E2, Proximal tubulop... |
OMIM:241150 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Elevated circulating follicle stimulating hormone level, Midshaft hypospadias, Urogenital sinus a... |
ORPHA:168558 |
Addison Disease |
|
Androgen insufficiency, Adrenal hypoplasia, Type I diabetes mellitus, Renal salt wasting, Increas... |
ORPHA:85138 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Abnormal... |
ORPHA:563 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Hypokalemia, Abnormal circulating ren... |
ORPHA:403 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Renal salt wasting, Renal sodium wasting, Hypokalemia, Hypomagnesemia, Hypocalciuria, Renal potas... |
OMIM:612780 |
Familial Dilated Cardiomyopathy |
|
Abnormal circulating creatine kinase concentration, Right ventricular dilatation, Atrial fibrilla... |
ORPHA:217607 |
Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... |
OMIM:613424 |
Gaisböck Syndrome |
|
Hyperproteinemia, Hypertension, Elevated diastolic blood pressure, Nephrocalcinosis, Hyperuricemi... |
ORPHA:90041 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... |
OMIM:612158 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertension, Hyperlipidemia, Hypercholesterolemia, Myocardial infarction, Hypertriglyceridemia, ... |
OMIM:610947 |
Aapoaiv Amyloidosis |
|
Abnormal cardiac ventricular function, Hyperlipidemia, Cardiac conduction abnormality, Diabetes m... |
ORPHA:439232 |
Wild Type Attr Amyloidosis |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, ... |
ORPHA:330001 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Hypokalemia, Abnormal circulating ren... |
ORPHA:404 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Decreased serum creatinine, Elevated systolic bl... |
OMIM:300539 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Syncope, Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Excessive insulin response to g... |
ORPHA:324575 |
Gitelman Syndrome |
|
Prominent U wave, Syncope, Tubulointerstitial nephritis, ST segment depression, Raynaud phenomeno... |
ORPHA:358 |
Tubular Renal Disease-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Hypocalcemic tetany, Pericardial effusion, Nephrocalcinosis, Abnormal ren... |
ORPHA:73224 |
Hydroxykynureninuria |
|
Aminoaciduria, Renal tubular dysfunction, Tachycardia, Hypotension |
OMIM:236800 |
Lysinuric Protein Intolerance |
|
Oroticaciduria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Decreased res... |
ORPHA:470 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Highly elevated creatine kinase, Skeletal muscle atrophy, Elevated c... |
ORPHA:368 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Hypertension, Decreased glomerular filtration rate, Renal insufficiency, Stage 5 chronic kidney d... |
OMIM:618061 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Hypertension, Renal dysplasia, Elevated circulating creatinine concentration, Left ventricular hy... |
OMIM:616733 |
Renal Failure, Progressive, With Hypertension |
|
Hypertension, Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney di... |
OMIM:161900 |
Paragangliomas 6 |
|
Hypertension, Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Abnormal autonomic nervous system physiology, T... |
ORPHA:85451 |
Hemorrhagic Fever-Renal Syndrome |
|
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Melena, Chronic kidney diseas... |
ORPHA:340 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypertension, Increased serum testosterone level, Intracranial hemorrhage, Increased circulating ... |
ORPHA:90795 |
Pure Autonomic Failure |
|
Syncope, Orthostatic hypotension, Dysuria, Abnormality of circulating catecholamine level, Urinar... |
ORPHA:441 |
Pituitary Adenoma 1, Multiple Types |
|
Hypertension, Increased serum insulin-like growth factor 1, Pituitary growth hormone cell adenoma... |
OMIM:102200 |
Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Decreased glomerular filtration rate |
OMIM:618182 |
Attrv30M Amyloidosis |
|
Atrioventricular block, Abnormal renal physiology, Cardiomegaly, Cardiomyopathy, Nephropathy, Arr... |
ORPHA:85447 |
Ectopic Aldosterone-Producing Tumor |
|
Hypertension, Decreased circulating renin level, Hypokalemia, Epistaxis, Renal cortical adenoma, ... |
ORPHA:231632 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Renal salt wasting, Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperaldosteronism |
OMIM:613743 |
Nail-Patella-Like Renal Disease |
|
Hypertension, Microscopic hematuria, Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:2613 |
Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Hepatomegaly, Hydronephrosis, Ventricular septal defect, Intrahepatic cho... |
OMIM:614921 |
His Bundle Tachycardia |
|
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia |
ORPHA:3283 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Skeletal muscle hypertrophy, Elevated circulating creatine kinase concentration, Macroglossia, Fa... |
OMIM:613156 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper... |
OMIM:115210 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Hypochloremia, Medullary nephrocalcinosis, Increased circulating renin... |
OMIM:300971 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Increased circulating progesterone, Elevated circulating follicle stimulating hormon... |
ORPHA:90793 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperactive renin-angiotensin system, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hypokal... |
OMIM:241200 |
Liddle Syndrome 1 |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level, Hypokal... |
OMIM:177200 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL c... |
OMIM:615703 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Ventricular septal defect, Aganglionic megacolon, Tachycardia, Patent ductus arteri... |
OMIM:613870 |
Variegate Porphyria |
|
Porphyrinuria, Tachycardia |
OMIM:176200 |
Iga Nephropathy, Susceptibility To, 2 |
|
Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... |
OMIM:613944 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Nephrocalcinosis, Hematuria, Decreased glomerular filtration rate, Dys... |
ORPHA:93598 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Ethylmalonic aciduria, Hyperglutaminemia, Elevated circulating creatine kinase concentration, Dic... |
OMIM:619355 |
Aicardi-Goutieres Syndrome 9 |
|
Increased blood pressure, Micropenis, Hepatosplenomegaly, Acute pancreatitis, Portal hypertension... |
OMIM:619487 |
Loeffler Endocarditis |
|
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Abnormal morph... |
ORPHA:75566 |
Porphyria Variegata |
|
Hyponatremia, Hypertension, Abnormal autonomic nervous system physiology, Inappropriate antidiure... |
ORPHA:79473 |
Iga Nephropathy, Susceptibility To, 3 |
|
Hypertension, IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesang... |
OMIM:616818 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Ventricular septal defect, Mitral regur... |
ORPHA:3092 |
Focal Segmental Glomerulosclerosis 2 |
|
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney dise... |
OMIM:603965 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Autonomic erectile dysfunction, Elevated circulating alkaline phosph... |
ORPHA:85443 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Renal Fanconi syndrome, Hepatomegaly, Abnormal circulating fatty-acid concentration, Hyperinsulin... |
ORPHA:263455 |
Glycogen Storage Disease Ic |
|
Hypertension, Focal segmental glomerulosclerosis, Spider hemangioma, Hepatomegaly, Hyperlipidemia... |
OMIM:232240 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension, Decreased circulating renin level, Decreased circulating aldosterone level |
OMIM:605115 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Type 1 muscle fiber predominance, Triceps weakness, Elevated circulating creatine kinas... |
ORPHA:86812 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Focal segmental glomerulosclerosis, Hyperlipidemia, Stage 5 chronic kidney disease,... |
OMIM:603278 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Elevated circulating creatine kinase concentration, Increased QRS volt... |
OMIM:619040 |
Fibronectin Glomerulopathy |
|
Cerebral hemorrhage, Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, ... |
ORPHA:84090 |
Lessel-Kubisch Syndrome |
|
Hypogonadism, Renal hypoplasia, Hypertension, Renal insufficiency |
OMIM:618681 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hepatomegaly, Elevated circulating creatine kinase concentrati... |
OMIM:212138 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Hypertension, Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscop... |
OMIM:601894 |
Snakebite Envenomation |
|
Hyponatremia, Intracranial hemorrhage, Epistaxis, Tachycardia, Cerebral ischemia, Cardiogenic sho... |
ORPHA:449285 |
Congenital Pulmonary Veins Atresia Or Stenosis |
|
Hypertension, Abnormal cardiac septum morphology |
ORPHA:3188 |
Glycogen Storage Disease 0, Muscle |
|
Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen ... |
OMIM:611556 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... |
ORPHA:94088 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Elevated circulating ... |
ORPHA:567544 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Hypertension, Myocardial infarction |
OMIM:608320 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy |
OMIM:607487 |
Tetanus |
|
Hypertension, Elevated urinary epinephrine, Elevated circulating creatine kinase concentration, T... |
ORPHA:3299 |
Obesity Due To Sim1 Deficiency |
|
Abnormal autonomic nervous system physiology, Hyperinsulinemia, Postural hypotension with compens... |
ORPHA:369873 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... |
OMIM:608751 |
Pauci-Immune Glomerulonephritis |
|
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Elevat... |
ORPHA:93126 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Arrhythmia, Mitral valve prolapse, Cardiomyopathy |
OMIM:614676 |
Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... |
OMIM:610476 |
Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy, Elevated circulating alkaline phosphatase concentration, Coronary a... |
OMIM:616833 |
Hereditary Coproporphyria |
|
Hyponatremia, Proximal muscle weakness in lower limbs, Porphyrinuria, Tachycardia, Dark urine, In... |
ORPHA:79273 |
Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Ventricular arrhythmia, Third heart sound, Jaundice, Global systolic dys... |
ORPHA:57777 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Palpitations, Ventricu... |
OMIM:608758 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Episodic hypertension, Hypercalcemia, Cerebral hemorrhage, Tachycardia, Elevated urinary norepine... |
OMIM:171420 |
Infantile Bartter Syndrome With Sensorineural Deafness |
|
Hyponatremia, Hyperactive renin-angiotensin system, Hypokalemia, Nephrocalcinosis, Increased urin... |
ORPHA:89938 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hypertension, Pheochromocytoma, Aganglionic megacolon, Elevated urinary epinephrine, Elevated uri... |
OMIM:171400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... |
OMIM:602087 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Decreased circulating renin level, Hypokalemia, Decreased circulating aldosterone l... |
OMIM:218030 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Abnormal aortic morphology, Cardiomyopathy, Hyperuricemia, Renal insufficiency, Arr... |
ORPHA:3222 |
Coronary Arterial Fistula |
|
Coronary artery aneurysm, Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Vascular dila... |
ORPHA:2041 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Nephropathy |
OMIM:242530 |
Focal Segmental Glomerulosclerosis 5 |
|
Hypertension, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hem... |
OMIM:613237 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... |
ORPHA:90065 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial fibrillation, Atrioventricular dissociation, Persistent left superior vena cava, Abnormal ... |
OMIM:614954 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Elevated circulating creatine kinase con... |
ORPHA:308552 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Myoglobinuria, Elevated circulating creatine kinase concentration, Tachycardia, Rha... |
OMIM:145600 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hypertension, Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency |
OMIM:607832 |
Atrial Standstill |
|
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... |
ORPHA:1344 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy, Decreased liver function, Elevated hepatic transaminase, Hyperalani... |
OMIM:616974 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Bradycardia, Hyperalaninemia |
OMIM:614654 |
Rowley-Rosenberg Syndrome |
|
Cor pulmonale, Hypertension, Right ventricular hypertrophy, Pulmonary arterial hypertension, Amin... |
OMIM:268500 |
Adenine Phosphoribosyltransferase Deficiency |
|
Macroscopic hematuria, Hypertension, Urinary hesitancy, Urinary retention, Atrial fibrillation, D... |
ORPHA:976 |
Leprechaunism |
|
Hypertrophic cardiomyopathy, Central hypothyroidism, Hepatomegaly, Skeletal muscle atrophy, Hypok... |
ORPHA:508 |
Paragangliomas 3 |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Palpitations, Tachycardia, Chemodectoma,... |
OMIM:605373 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Left anterior fascicular block, Shoulder girdle muscle atrophy, Abnormal left ventricular functio... |
ORPHA:437572 |
Neuroleptic Malignant Syndrome |
|
Hypernatremia, Pulmonary embolism, Elevated circulating alkaline phosphatase concentration, Hyper... |
ORPHA:94093 |
Iga Nephropathy, Susceptibility To, 1 |
|
Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... |
OMIM:161950 |
Variant Abeta2M Amyloidosis |
|
Cardiac amyloidosis, Abnormal vascular morphology, Reduced ejection fraction, Abnormal skeletal m... |
ORPHA:314652 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertension, Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Calf muscle h... |
ORPHA:280356 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Hypertriglyceridemia, Skeletal muscle hypertrophy, Diabetes mellitus |
OMIM:613877 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... |
OMIM:601494 |
Riboflavin Transporter Deficiency |
|
Hypertension, Optic disc pallor, Skeletal muscle atrophy, Diabetes insipidus, Abnormal cranial ne... |
ORPHA:97229 |
Paragangliomas 1 |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Palpita... |
OMIM:168000 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Tachycardia, Pancreatic islet-cell hyperplasia, Hyperhidrosis, Hyp... |
ORPHA:276608 |
Cardiomyopathy, Dilated, 1Kk |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... |
OMIM:615248 |
Relapsing Fever |
|
Abnormality of the urinary system, Hematuria, Elevated circulating creatinine concentration, Epis... |
ORPHA:91547 |
Frasier Syndrome |
|
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Streak ovary, Increased cir... |
ORPHA:347 |
Fabry Disease |
|
Hyperlipidemia, Achalasia, Transient ischemic attack, Nephropathy, Hypertrophic cardiomyopathy, H... |
ORPHA:324 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... |
OMIM:602086 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypertrophic cardiomyopathy, Optic atrophy, Myoglobinuria, Premature pubarche, Elevated circulati... |
OMIM:616878 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypertension, Increased serum testosterone level, Decreased circulating aldosterone level, Increa... |
OMIM:202010 |
Amyloidosis, Familial Visceral |
|
Hypertension, Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Nephropathy, Proteinuria |
OMIM:105200 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Abnormal coronary artery origin, Mitral steno... |
ORPHA:1686 |
Atrial Fibrillation, Familial, 10 |
|
Left atrial enlargement, Paroxysmal atrial tachycardia, Tricuspid regurgitation, Left ventricular... |
OMIM:614022 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hypertension, Hepatomegaly, Pancreatitis, Hyperinsulinemia, Diabetes mellitus, Coronary artery at... |
ORPHA:79084 |
Cirrhosis, Familial |
|
Hypertension, Increased level of L-fucose in urine, Increased level of propylene glycol in blood,... |
OMIM:215600 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Ventricular tachycardia, Dicarboxylic aciduria, Cardiomyopathy, Elevated creatine k... |
ORPHA:159 |
Myotonic Dystrophy 2 |
|
Type 2 muscle fiber atrophy, Elevated circulating follicle stimulating hormone level, Elevated ci... |
OMIM:602668 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia |
OMIM:107970 |
C3 Glomerulopathy |
|
Hypertension, Nephrotic syndrome, Hematuria, Elevated circulating creatinine concentration, Stage... |
ORPHA:329918 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension, Type II diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia |
ORPHA:71529 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Hepatomegaly, Optic disc pallor, Mitral regurgitation, Lacticaciduria, Le... |
OMIM:619167 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Ventricular tachycardia, Palpitations, Cardiomyopathy, Left ventricular hypertrophy, Myocardial f... |
OMIM:613873 |
Pituitary Gigantism |
|
Hypertrophic cardiomyopathy, Type II diabetes mellitus, Increased serum insulin-like growth facto... |
ORPHA:99725 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Hypercalcemia, Paraganglioma of head and neck, Episodic hyperhidrosis, Eleva... |
ORPHA:94080 |
Isolated Succinate-Coq Reductase Deficiency |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Noncompaction cardiomyopathy, Skeletal myop... |
ORPHA:3208 |
Liddle Syndrome |
|
Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Renal insufficiency, Arrhythmia |
ORPHA:526 |
Alstrom Syndrome |
|
Dilated cardiomyopathy, Hypertension, Chronic active hepatitis, Decreased HDL cholesterol concent... |
OMIM:203800 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Skeletal muscle atrophy, Elevated circulat... |
OMIM:615418 |
Potocki-Shaffer Syndrome |
|
Hypertension, Micropenis, Hypothyroidism, Nephroblastoma, Delayed puberty |
ORPHA:52022 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... |
OMIM:604772 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Prolonged QT interval, Skeletal muscle hypertrophy, Atrial fibrillation, Elevated c... |
OMIM:613327 |
Overlap Myositis |
|
Hypertension, Perifascicular muscle fiber atrophy, Elevated circulating creatine kinase concentra... |
ORPHA:206572 |
Heme Oxygenase 1 Deficiency |
|
Hypertension, Hepatomegaly, Hematuria, Nephritis, Epistaxis, Increased circulating ferritin conce... |
OMIM:614034 |
Tangier Disease |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Facial diplegia, Splenomegaly, Left ventri... |
OMIM:205400 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy |
OMIM:613874 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Dilated cardiomyopathy, Ventricular arrhythmia, Goiter, Quadriceps muscle weakness, Diabetes mell... |
ORPHA:254892 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Hypoparathyroidism, Truncus arteriosus, Double outlet right ventricle,... |
ORPHA:3426 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Hypertension, Adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting |
OMIM:201910 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Skeletal myopathy, Mitral regurgitation, Chronic hepatic failure, Cardiomyopa... |
ORPHA:746 |
Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Necrotizing myopathy, Premature ventricular contraction, Myoglobinuria, Ventricular... |
ORPHA:423 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal QRS complex, Maternal diabetes, Reduced ejection fraction, Supraventricular tachycardia,... |
ORPHA:45452 |
Intracranial Hypertension, Idiopathic |
|
Hypertension, Papilledema |
OMIM:243200 |
Liddle Syndrome 2 |
|
Hypokalemia, Hypertension, Decreased circulating renin level |
OMIM:618114 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypoproteinemia, Ventricular septal defect, Hepatomegaly, Prolonged QT in... |
ORPHA:26793 |
Pheochromocytoma |
|
Episodic hypertension, Hypercalcemia, Cerebral hemorrhage, Tachycardia, Elevated urinary norepine... |
OMIM:171300 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Ventric... |
OMIM:600649 |
Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Hydronephrosis, Diabetes insipidus, Diabetes mellitus, Hydroureter, Abnormal auton... |
OMIM:598500 |
Cocaine Intoxication |
|
Tubulointerstitial nephritis, Ventricular arrhythmia, Diffuse alveolar hemorrhage, Supraventricul... |
ORPHA:90068 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Hypokalemia, Nephrocalcinosis, Proximal tubulopathy, Decreased ... |
ORPHA:18 |
Acute Intermittent Porphyria |
|
Hyponatremia, Proximal muscle weakness in lower limbs, Hypertension, Urinary retention, Dysuria, ... |
ORPHA:79276 |
Acute Peripheral Arterial Occlusion |
|
Limb muscle weakness, Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Ab... |
ORPHA:90064 |
Incessant Infant Ventricular Tachycardia |
|
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... |
ORPHA:45453 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypertension, Ventricular septal defect, Patent ductus arteriosus, Decreased liver function, Arrh... |
OMIM:617021 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertension, Hepatomegaly, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Acute panc... |
OMIM:608600 |
Alkaptonuria |
|
Mitral valve calcification, Decreased glomerular filtration rate, Coronary artery calcification, ... |
OMIM:203500 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension, Proteinuria, Renal insufficiency, Nephropathy |
OMIM:166300 |
Alagille Syndrome 2 |
|
Renal hypoplasia, Hypertension, Peripheral pulmonary artery stenosis, Renal tubular acidosis, Hem... |
OMIM:610205 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Palpitations, Ventricular hypertrophy, Ventricular tachycardia, Shoulder g... |
ORPHA:263297 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate, Chronic k... |
ORPHA:488627 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Goiter, Hypokalemia, Palpitations, Tachycardia, Hyperthyroidism, Rhabdomyolysis |
OMIM:188580 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypertension, Nephrocalcinosis, Coronary artery calcification, Myocardial infarction, Congestive ... |
OMIM:614473 |
Hyperthyroidism, Familial Gestational |
|
Hyperthyroidism, Increased circulating T4 level, Decreased thyroid-stimulating hormone level, Tac... |
OMIM:603373 |
Xfe Progeroid Syndrome |
|
Hypertension, Optic atrophy, Elevated hepatic transaminase, Proteinuria, Renal insufficiency |
OMIM:610965 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Hypertension, Increased urinary cortisol level, Increased circu... |
OMIM:615954 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Decreased urine output, Reduced ejection fraction, Elevated circulating creatinine concentration,... |
ORPHA:542323 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hyperactive renin-angiotensin system, Hypokalemia, Hypochloremia, Hyperaldosteronism |
OMIM:214700 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Thoracic aortic aneurysm, Oligosacchariduria, Basilar artery calcification, Transient ischemic at... |
ORPHA:365 |
Takayasu Arteritis |
|
Hypertrophic cardiomyopathy, Hypertension, Ascending tubular aorta aneurysm, Abnormal endocardium... |
ORPHA:3287 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertrophic cardiomyopathy, Abnormality of skeletal muscle fiber size, Myopathy, Hypertension, M... |
ORPHA:79083 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Nephronophthisis, Hypertension, Stage 5 chronic kidney disease |
ORPHA:3156 |
Sneddon Syndrome |
|
Hypertension, Intracranial hemorrhage, Arterial stenosis, Nephropathy |
ORPHA:820 |
Nephronophthisis 2 |
|
Hyperkalemia, Hypertension, Pulmonary insufficiency, Chronic tubulointerstitial nephritis, Nephro... |
OMIM:602088 |
Romano-Ward Syndrome |
|
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Hypokalemia, Torsade de poin... |
ORPHA:101016 |
Cardiomyopathy, Dilated, 1B |
|
Dilated cardiomyopathy, Ventricular arrhythmia, Vascular dilatation, Congestive heart failure, Im... |
OMIM:600884 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy |
OMIM:613876 |
Seckel Syndrome 10 |
|
Hypertension, Abdominal aortic aneurysm, Elevated circulating follicle stimulating hormone level,... |
OMIM:617253 |
Atrial Septal Defect, Sinus Venosus Type |
|
Left-to-right shunt, Right ventricular dilatation, Atrial fibrillation, Systolic heart murmur, Ca... |
ORPHA:99105 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Ventricular tachycardia, Left bundle branch block, Left ventricular hypertro... |
OMIM:613838 |
Bronchial Neuroendocrine Tumor |
|
Right ventricular failure, Facial telangiectasia, Hepatomegaly, Abnormal pulmonary valve cusp mor... |
ORPHA:97287 |
Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis, Renal fibrosis |
OMIM:618161 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Proximal amyotrophy, Cardiac myxoma, Increased urinary cortisol level, Hypertension, Adrenal hype... |
ORPHA:189439 |
Truncus Arteriosus |
|
Truncus arteriosus, Hypoplasia of the thymus, Abnormal coronary artery morphology, Patent ductus ... |
ORPHA:3384 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hypertension, Telangiectasia, Weakness of facial musculature, Elevated circulating creatinine con... |
ORPHA:247691 |
Scorpion Envenomation |
|
Myocarditis, Prominent U wave, Cardiac conduction abnormality, ST segment depression, Acute pancr... |
ORPHA:466677 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage, Moyamoya phenomenon, Coronary artery a... |
ORPHA:280679 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
Serotonin Syndrome |
|
Hypertension, Abnormality of the autonomic nervous system, Tachycardia, Acute kidney injury, Hepa... |
ORPHA:43116 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Stress urinary incontinence, Cerebral... |
ORPHA:136 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Increased total bilirubin, Splenomegaly, Congestive heart failure, Abnormal urinary ... |
ORPHA:90037 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Hypospadias, Hydronephrosis, Left ventricular hypertrophy, Camptodactyly, Renal insufficiency |
OMIM:611209 |
Methanol Poisoning |
|
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Type II diabetes mellitus, Hyperlipid... |
ORPHA:31825 |
Von Hippel-Lindau Disease |
|
Myocarditis, Hypertension, Adrenal pheochromocytoma, Pancreatic endocrine tumor, Pancreatic islet... |
ORPHA:892 |
Renal Hypoplasia |
|
Urethral valve, Hydronephrosis, Abnormality of the ureter, Hypertension, Pelvic kidney, Glomerulo... |
ORPHA:93101 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
Atrial Septal Defect, Ostium Primum Type |
|
Left atrial enlargement, Syncope, Third heart sound, Abnormally loud pulmonic component of the se... |
ORPHA:99106 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Hypertrophic cardiomyopathy, Hypertension, Abnormal heart valve morphology, Congestive heart fail... |
ORPHA:1345 |
Renal Nutcracker Syndrome |
|
Syncope, Vulval varicose vein, Orthostatic hypotension, Hematuria, Tachycardia, Microscopic hemat... |
ORPHA:71273 |
Familial Cervical Artery Dissection |
|
Hypertension, Recurrent cerebral hemorrhage, Dilatation of the cerebral artery, Facial palsy, Cer... |
ORPHA:36382 |
Congenital Aortic Valve Stenosis |
|
Abnormal T-wave, Abnormal left ventricular function, Reduced ejection fraction, Angina pectoris, ... |
ORPHA:3093 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Patent ductus arteriosus, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Nephrotic syndrome, Mi... |
ORPHA:505248 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Extraadrenal pheochromocytoma, Elevated urinary epinephrine, Elevated urinary norepinephrine, Cer... |
ORPHA:29072 |
Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... |
OMIM:163800 |
Tako-Tsubo Cardiomyopathy |
|
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... |
ORPHA:66529 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Hypercalcemia, Paraganglioma of head and neck, Extraadrenal pheochromocytoma... |
ORPHA:276621 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Autonomic bladder dysfunction, EMG: myopathic abnormalities, Abnormal au... |
ORPHA:97355 |
Acquired Generalized Lipodystrophy |
|
Hypertension, Myopathy, Hepatomegaly, Abnormal circulating lipid concentration, Insulin-resistant... |
ORPHA:79086 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... |
OMIM:619566 |
Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy, Optic disc pallor |
OMIM:618632 |
Fanconi Renotubular Syndrome 5 |
|
Hypertension, Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney disease, Glyc... |
OMIM:618913 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Intermitte... |
ORPHA:2299 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Goiter, Cerebral vasculitis, Hypothyroidism, Hashimoto thyroiditis, Abnormal autono... |
ORPHA:83601 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... |
ORPHA:216694 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiomyopathy, Urinary incon... |
OMIM:105210 |
Cardiomyopathy, Dilated, 1P |
|
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia |
OMIM:609909 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Abnormal heart morphology, Tachycardia, Hyperhidrosis, Abnormal enzyme/coenzym... |
ORPHA:79264 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... |
OMIM:604400 |
Complete Atrioventricular Septal Defect |
|
Right ventricular failure, Left-to-right shunt, Third heart sound, Abnormal EKG, Abnormal P wave,... |
ORPHA:1329 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... |
OMIM:611528 |
Polyarteritis Nodosa |
|
Hypertension, Pericarditis, Cardiomyopathy, Raynaud phenomenon, Elevated circulating C-reactive p... |
ORPHA:767 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Goiter, Hypokalemia, Palpitations, Tachycardia, Hyperthyroidism |
OMIM:613239 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy, Left ventricular hypertrophy |
OMIM:613153 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, Bradycardia, Flexion contracture, Abnormal autonomic nervous system physiology |
OMIM:614498 |
Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral regurgitation, Patent ductus arter... |
OMIM:615355 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypophosphatemia, Proximal renal tubular acidosis, Oligosacchariduria, Hyperaldosteronism, Hyperc... |
ORPHA:534 |
Congenital Fibrinogen Deficiency |
|
Right ventricular hypertrophy, Tachycardia, Left ventricular hypertrophy, Micropenis, Internal he... |
ORPHA:335 |
Congenital Hypothyroidism |
|
Hypertension, Optic atrophy, Prolonged neonatal jaundice, Goiter, Macroglossia, Nephrolithiasis, ... |
ORPHA:442 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Dextrocardia, Hypertension, Situs inversus totalis, Elevated circulating creatinine concentration... |
OMIM:613095 |
Wolfram Syndrome |
|
Optic atrophy, Myopathy, Diabetes insipidus, Abnormality of the urinary system, Dysuria, Cardiomy... |
ORPHA:3463 |
Denys-Drash Syndrome |
|
Hypertension, Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma |
ORPHA:220 |
Paragangliomas 4 |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Palpitations, Renal cell carcinoma, Elev... |
OMIM:115310 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia, Neuroendocrine neoplasm, Pancreatic islet cell adenoma, Neoplasm of the thymus, In... |
ORPHA:97289 |
Stiff Skin Syndrome |
|
Abnormal circulating lipid concentration, Hypertension, Type II diabetes mellitus, Nephrolithiasis |
ORPHA:2833 |
Glutaric Aciduria Iii |
|
Hypertension, Hyperthyroidism, Glutaric aciduria, Goiter |
OMIM:231690 |
African Iron Overload |
|
Hepatomegaly, Elevated hepatic iron concentration, Abnormal thyroid morphology, Abnormal heart mo... |
ORPHA:139507 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... |
OMIM:614021 |
Alport Syndrome |
|
IgA deposition in the glomerulus, Thin glomerular basement membrane, Tubulointerstitial fibrosis,... |
ORPHA:63 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Hypertension, Cardiomegaly, Increased circulating ferritin concentration, Ac... |
OMIM:618886 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hypertension, Decreased HDL cholesterol concentration, Maternal diabetes, Insulin-resistant diabe... |
OMIM:604367 |
Homozygous Familial Hypercholesterolemia |
|
Coronary artery aneurysm, Myocardial steatosis, Hyperlipidemia, Premature coronary artery atheros... |
ORPHA:391665 |
Cardiomyopathy, Dilated, 1E |
|
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... |
OMIM:601154 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension, Myopathy, Hepatomegaly, Hypertriglyceridemia, Hyperinsulinemia |
ORPHA:363400 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypertension, Shock, Renal tubular dysfunction, Decreased urine output, Prolonged Q... |
ORPHA:31826 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal defect, Ca... |
ORPHA:49827 |
Secondary Intestinal Lymphangiectasia |
|
Right ventricular failure, Constrictive pericarditis, Decreased prealbumin level, Reduced circula... |
ORPHA:90363 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Splenomegaly, Congestive heart failure, Abnormal urinary color, Jaundice |
ORPHA:90033 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... |
OMIM:108900 |
Bardet-Biedl Syndrome 1 |
|
Hypertension, Aganglionic megacolon, Left ventricular hypertrophy, Hypogonadism, Micropenis, Neph... |
OMIM:209900 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Hypertension, Ventricular septal defect, Pulmonary arterial hypertension, Patent ductus arteriosu... |
OMIM:608406 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Adrenal insufficiency, Subdural hemorrhage, Melena, Splenomegaly, Parotitis, Acute p... |
ORPHA:99827 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Left ventricular hypertrophy, Congest... |
ORPHA:444013 |
Senior-Boichis Syndrome |
|
Renal hypoplasia, Hypertension, Abnormal renal insterstitial morphology, Thickening of the tubula... |
ORPHA:84081 |
Nelson Syndrome |
|
Hypertension, Increased urinary cortisol level, Intracranial hemorrhage, Anterior hypopituitarism... |
ORPHA:199244 |
Pediatric-Onset Graves Disease |
|
Hypertension, Hepatomegaly, Increased circulating T4 level, Atrial fibrillation, Goiter, Palpitat... |
ORPHA:525731 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Mitral valve prolapse, Mitral regurgitation, Cerebral berry aneurysm, Polycystic ki... |
OMIM:173900 |
Extracranial Carotid Artery Aneurysm |
|
Hypertension, Total anomalous pulmonary venous return, Cerebral ischemia, Arterial fibromuscular ... |
ORPHA:494424 |
Primary Lipodystrophy |
|
Hypertension, Myopathy, Type II diabetes mellitus, Skeletal muscle hypertrophy, Hyperlipidemia, T... |
ORPHA:90970 |
Stiff-Person Syndrome |
|
Hypertension, Asymmetric limb muscle stiffness, Proximal limb muscle stiffness, Tachycardia, Diab... |
OMIM:184850 |
Simple Cryoglobulinemia |
|
Hypertension, Pericarditis, Nephrotic syndrome, Abnormal heart morphology, Nephritis, Mesangial h... |
ORPHA:91139 |
Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Hypoalbuminemia, Shock, Myositis, Elevated circulating creatine kinase concentration... |
ORPHA:36234 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy |
OMIM:614458 |
Grange Syndrome |
|
Hypertension, Ventricular septal defect, Aortic regurgitation, Patent ductus arteriosus, Arterial... |
ORPHA:79094 |
Rhabdoid Tumor |
|
Hypercalcemia, Hypertension, Hematuria, Renal neoplasm, Internal hemorrhage |
ORPHA:69077 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia, Hypertension |
ORPHA:2111 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Skeletal muscle atrophy, Orthostatic hypotension, Decreased nerve conduction velocity, Achalasia,... |
OMIM:252320 |
Pseudoxanthoma Elasticum |
|
Hypertension, Abnormal endocardium morphology, Mitral valve prolapse, Angina pectoris, Nephrocalc... |
ORPHA:758 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, Accelerated ath... |
OMIM:618620 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal lymphocytic tubulitis, Renal Fanconi syndrome, Tubulointerstitial nephritis, Aminoaciduria,... |
ORPHA:91500 |
Caudal Regression Sequence |
|
Decreased muscle mass, Ureteral duplication, Abnormality of the ureter, Renal agenesis, Hypertens... |
ORPHA:3027 |
Mercury Poisoning |
|
Hypertension, Hypokalemia, Tachycardia, Acute kidney injury, Hypotension |
ORPHA:330021 |
Schimke Immuno-Osseous Dysplasia |
|
Hypertension, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hyperlipidem... |
ORPHA:1830 |
Cardiomyopathy, Dilated, 1G |
|
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... |
OMIM:604145 |
Leber Hereditary Optic Neuropathy |
|
Optic atrophy, Myopathy, Ventricular preexcitation, Retinal telangiectasia, Arrhythmia |
ORPHA:104 |
Porphyria, Acute Intermittent |
|
Hypertension, Urinary retention, Dysuria, Tachycardia, Urinary incontinence, Elevated urinary del... |
OMIM:176000 |
Familial Dysautonomia |
|
Hyponatremia, Hypertension, Optic atrophy, Orthostatic hypotension, Tachycardia, Hyperhidrosis, H... |
ORPHA:1764 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Hypertension, Nephronophthisis, Tubulointerstitial fibrosis, Renal cortico... |
OMIM:256100 |
Coach Syndrome 2 |
|
Hyperechogenic kidneys, Hypertension, Elevated circulating creatinine concentration, Elevated hep... |
OMIM:619111 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Bicuspid aortic valve, Hypertension, Pulmonary arterial hypertension, Patent ductus arteriosus, A... |
OMIM:613355 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Hypertension, Macronodular adrenal hyperplasia, Skeletal muscle atrophy, Pri... |
OMIM:219080 |
Coach Syndrome 1 |
|
Hypertension, Hepatomegaly, Optic disc pallor, Nephronophthisis, Multiple small medullary renal c... |
OMIM:216360 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Neonatal hyperbilirubinemia, Tachycardia, Hyperalaninemia, Hyperuricemia, Increased... |
ORPHA:348 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Tachycardia, Increased total bilirubin |
ORPHA:90036 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... |
OMIM:310468 |
Arteriosclerosis, Severe Juvenile |
|
Hypertension, Myocardial infarction, Arteriosclerosis, Central retinal vessel vascular tortuosity... |
OMIM:208060 |
Pseudoxanthoma Elasticum |
|
Hypertension, Mitral valve prolapse, Accelerated atherosclerosis, Retinal hemorrhage, Renovascula... |
OMIM:264800 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Episodic hyperhidrosis, Orthostatic hypotension, Abnormal renal physiology, Elevate... |
OMIM:223900 |
Schimke Immunoosseous Dysplasia |
|
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Cerebral ischemia, Arterios... |
OMIM:242900 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Elevated carcinoembryonic antigen level, Foam cells, Tachycardia, Abnormal circulating protein co... |
ORPHA:264675 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypertension, Generalized arterial calcification, Coronary artery calcification, Myocardial infar... |
OMIM:208000 |
Absence Of The Pulmonary Artery |
|
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Abnormal infer... |
ORPHA:980 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Hypertension, Primary hypercortisolism, Increased circulating cortisol level, Decreased circulati... |
OMIM:610475 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Hypertension, Primary hypercortisolism, Increased circulating cortisol level, Decreased circulati... |
OMIM:610489 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy, Optic atrophy, Nonketotic hyperglycinemia |
ORPHA:401866 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Hypertension, Abnormal nephron morpholog... |
ORPHA:93108 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Dilatation of... |
ORPHA:99094 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Hypertension, Type I diabetes mellitus, Hypohidrosis, Anterior hypopituitarism |
ORPHA:181 |
Sepsis In Premature Infants |
|
Hepatomegaly, Reversible renal failure, Tachycardia, Bradycardia, Splenomegaly, Decreased liver f... |
ORPHA:90051 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Premature ventricular contraction, Right ventricular dilatation, Ventricular tachycardia, Palpita... |
OMIM:618920 |
Hydroxykynureninuria |
|
Renal tubular acidosis, Tachycardia, Abnormal circulating tryptophan concentration, Hypotension |
ORPHA:79155 |
Autoimmune Hypoparathyroidism |
|
Autoimmune hypoparathyroidism, Hypocalcemic tetany, Prolonged QT interval, Hypocalcemic seizures,... |
ORPHA:36913 |
Cholera |
|
Abnormality of renal excretion, Hyponatremia, Hypovolemic shock, Decreased urine output, Hypokale... |
ORPHA:173 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia, Hypertension, Pseudohypoaldosteronism |
OMIM:145260 |
Igg4-Related Retroperitoneal Fibrosis |
|
Hypertension, Hydronephrosis, Nephrotic syndrome, Renovascular hypertension, Budd-Chiari syndrome... |
ORPHA:49041 |
Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Hypertension, Nephrotic syndrome, Hematuria, Nephritis,... |
OMIM:203780 |
Eisenmenger Syndrome |
|
Right ventricular failure, Syncope, Left-to-right shunt, Ventricular arrhythmia, Patent ductus ar... |
ORPHA:97214 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Tubulointerstitial nephritis, Endocarditi... |
ORPHA:183 |
Atrial Standstill 1 |
|
Atrial standstill, Ventricular escape rhythm, Endocardial fibroelastosis, Atrial cardiomyopathy, ... |
OMIM:108770 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular winging, Left ve... |
ORPHA:169186 |
16P12.1P12.3 Triplication Syndrome |
|
Abnormal heart morphology, Abnormal tricuspid valve morphology, Tachycardia, Atrial septal defect... |
ORPHA:485405 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Syncope, Pericardial effusion, Ventricular arrhythmia, Atrial fibrillatio... |
ORPHA:300751 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypertension, Ragged-red muscle fibers, Cong... |
ORPHA:1349 |
Posterior Urethral Valve |
|
Hypertension, Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral... |
ORPHA:93110 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Hypercalcemia, Hypertension, Increased blood urea nitrogen, Anhidrosis, Me... |
ORPHA:251004 |
Alport Syndrome 1, X-Linked |
|
Glomerular basement membrane lamellation, Hypertension, Hypoparathyroidism, Nephrotic syndrome, N... |
OMIM:301050 |
Timothy Syndrome |
|
Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Bradycardia, Patent ductus arteri... |
OMIM:601005 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertension, Intracranial hemorrhage, Mitral valve calcification, Mitral regurgitation, Ventricu... |
ORPHA:363618 |
Melorheostosis With Osteopoikilosis |
|
Hypertension |
ORPHA:1879 |
Bardet-Biedl Syndrome |
|
Hypertension, Skeletal muscle atrophy, Nephrotic syndrome, Hypoplasia of the ovary, Hypogonadism,... |
ORPHA:110 |
Vici Syndrome |
|
Dilated cardiomyopathy, Myopathy, Cardiomyopathy, Left ventricular hypertrophy, Congestive heart ... |
OMIM:242840 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Optic atrophy, Atrial fibrillation, Ventricular tachycar... |
ORPHA:137675 |
Multiple Endocrine Neoplasia Type 2 |
|
Proximal amyotrophy, Ganglioneuromatosis, Elevated urinary epinephrine, Elevated urinary catechol... |
ORPHA:653 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... |
ORPHA:98855 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Cardiomyocyte hypertrophy |
OMIM:605676 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hypertension, Hepatomegaly, Tubulointerstitial fibrosis, Renal cyst, Splenomegaly, Polycystic kid... |
OMIM:263200 |
Morgagni-Stewart-Morel Syndrome |
|
Hypertension, Abnormality of the endocrine system, Hyperuricemia, Hypercholesterolemia, Diabetes ... |
ORPHA:77296 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Hypertension, Nephrotic syndrome, Nephrocalcinosis, Glo... |
OMIM:104200 |
Naxos Disease |
|
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Hyperhidrosis, Sudd... |
ORPHA:34217 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Aortic root aneurysm, Patent ductus ar... |
ORPHA:91387 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... |
OMIM:612926 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Decreased circulating aldosterone level, Abnormal autonomic nervous system physiology, Optic atro... |
OMIM:231550 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... |
OMIM:607450 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death |
OMIM:612124 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Giant cell hepatitis, Nephrocalcinosis, Right ventricular hypertrophy,... |
OMIM:613404 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Ventricular tachycardia, Syncope, Cardiac arrest |
OMIM:614916 |
Ochoa Syndrome |
|
Hypertension, Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Vesicoure... |
ORPHA:2704 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Decreased liver function, Hypertension, Polycystic kidney dysplasia, Dilatation of the cerebral a... |
OMIM:600666 |
Mitchell Syndrome |
|
Abnormal autonomic nervous system physiology, Limb muscle weakness |
OMIM:618960 |
Cardiomyopathy, Dilated, 1O |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia |
OMIM:608569 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Skeletal muscle hypertrophy, Ventricular arrhythmia, Abnormal atrioventricular conduction, Spleno... |
ORPHA:280365 |
Porphyria |
|
Dupuytren contracture, Hypertension, Abnormal urinary color, Abnormal circulating porphyrin conce... |
ORPHA:738 |
Familial Thyroid Dyshormonogenesis |
|
Congenital hypothyroidism, Goiter, Neonatal hyperbilirubinemia, Macroglossia, Increased radioacti... |
ORPHA:95716 |
Pituitary Adenoma 4, Acth-Secreting |
|
Hypertension, Skeletal muscle atrophy, Hypokalemia, Nephrolithiasis, Pituitary adenoma, Increased... |
OMIM:219090 |
Alagille Syndrome |
|
Hypertension, Ventricular septal defect, Abnormality of the ureter, Hepatomegaly, Nephrotic syndr... |
ORPHA:52 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypertension, Coarctation of the descending aortic arch, Persistent left s... |
ORPHA:1457 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypoplasia of penis, Cardiac arrest, Arrhythmia, Abnormal autonomic nervous system physiology |
ORPHA:168593 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Hypertension, Primary hypercortisolism, Increased circulating cortisol level... |
OMIM:615830 |
Cryoglobulinemia, Familial Mixed |
|
Hypertension, Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration... |
OMIM:123550 |
Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... |
ORPHA:98853 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Hardikar Syndrome |
|
Decreased serum insulin-like growth factor 1, Patent ductus arteriosus, Splenomegaly, Hepatosplen... |
OMIM:301068 |
Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Hyperlipidemia, Low-output congestive heart failure, Splenomegaly, Diabetes mellitus, Coronary ar... |
ORPHA:565612 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypertension, Urinary bladder sphincter dysfunction, Pollakisuria, Hypothyroidism, Hypotension, A... |
ORPHA:93256 |
Buschke-Ollendorff Syndrome |
|
Hypertension, Abnormal aortic morphology, Generalized limb muscle atrophy, Flexion contracture, R... |
ORPHA:1306 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... |
OMIM:610193 |
Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Tubulointerstitial fibrosis, Hypoalbumine... |
OMIM:614196 |
Atrial Fibrillation, Familial, 1 |
|
Tachycardia, Atrial fibrillation |
OMIM:608583 |
Atrial Fibrillation, Familial, 3 |
|
Tachycardia, Atrial fibrillation |
OMIM:607554 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Macroglossia, Decreased circulating T4 level, Bradycardia, Elevated ... |
ORPHA:95717 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Syncope, Ventricular tachycardia |
ORPHA:3286 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia, Tachycardia |
OMIM:221400 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:98863 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Mitral valve prolapse, Double out... |
ORPHA:371428 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Multiple System Atrophy |
|
Orthostatic hypotension due to autonomic dysfunction, Orthostatic syncope, Raynaud phenomenon, Au... |
ORPHA:102 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Pulmonary insufficiency, Tendon rupture, Mitral valve prolapse, Mitral regurgitation, Aortic root... |
ORPHA:230851 |
Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Splenomegaly, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, ... |
ORPHA:75565 |
Cantu Syndrome |
|
Bicuspid aortic valve, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, Congenital h... |
OMIM:239850 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Tubulointerstitial fibrosis, Arthrogryposis multiplex congenita, Cardiom... |
OMIM:232500 |
Spondyloenchondrodysplasia |
|
Hypertension, Hematuria, Hepatitis, Raynaud phenomenon, Vasculitis, Hypothyroidism, Chronic kidne... |
ORPHA:1855 |
Generalized Glucocorticoid Resistance Syndrome |
|
Adrenal hyperplasia, Hypertension, Increased urinary cortisol level, Decreased circulating aldost... |
ORPHA:786 |
Agenesis Of The Corpus Callosum And Congenital Lymphedema |
|
Right ventricular hypertrophy, Hypertension, Pulmonary arterial hypertension, Patent ductus arter... |
OMIM:613623 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Giant cell hepatitis, Nephrocalcinosis, Right ventricular hypertrophy,... |
OMIM:208085 |
Mirizzi Syndrome |
|
Tachycardia, Hyperbilirubinemia, Dark urine, Pancreatitis, Elevated circulating alkaline phosphat... |
ORPHA:521219 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Hypospadias, Penoscrotal transposition, Patent ductus arteriosus, Pulmonic stenosis, Left ventric... |
OMIM:619148 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypospadias, Horseshoe kidney, Bicuspid aortic valve, Muscle hypertrophy of the lower extremities... |
ORPHA:1772 |
Naxos Disease |
|
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... |
OMIM:601214 |
Tsh-Secreting Pituitary Adenoma |
|
Ventricular arrhythmia, Goiter, Abnormality of the pituitary gland, Elevated circulating thyroid-... |
ORPHA:91347 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation |
OMIM:611878 |
Lead Poisoning |
|
Hypertension, Decreased HDL cholesterol concentration, Renal tubular dysfunction, Tubulointerstit... |
ORPHA:330015 |
Postinfectious Vasculitis |
|
Bacterial endocarditis, Hypertension, Hematuria, Cardiomyopathy, Raynaud phenomenon, Vasculitis i... |
ORPHA:48435 |
Moyamoya Disease With Early-Onset Achalasia |
|
Moyamoya phenomenon, Hypertension, Raynaud phenomenon |
ORPHA:401945 |
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Decreased glomerul... |
OMIM:614748 |
Cranioectodermal Dysplasia 2 |
|
Hypertension, Hepatomegaly, Renal cyst, Hyperbilirubinemia, Patent ductus arteriosus, Splenomegal... |
OMIM:613610 |
Granulomatosis With Polyangiitis |
|
Hypertension, Hydronephrosis, Pericarditis, Diabetes insipidus, Prostatitis, Hematuria, Epistaxis... |
ORPHA:900 |
Multiple System Atrophy, Parkinsonian Type |
|
Orthostatic hypotension due to autonomic dysfunction, Orthostatic syncope, Raynaud phenomenon, Au... |
ORPHA:98933 |
Carney Triad |
|
Hypertension, Adrenal overactivity, Adrenocortical adenoma, Tachycardia, Leiomyosarcoma, Paragang... |
ORPHA:139411 |
Alkaptonuria |
|
Hypertension, Tendon rupture, Mitral valve calcification, Prostatitis, Coronary artery calcificat... |
ORPHA:56 |
Neuroblastoma, Susceptibility To, 1 |
|
Hypertension, Elevated urinary vanillylmandelic acid, Horner syndrome, Elevated urinary catechola... |
OMIM:256700 |
Ganglioneuroma |
|
Abnormality of the adrenal glands, Hypertension, Gastrointestinal hemorrhage, Neoplasm of the adr... |
ORPHA:251992 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Increased urinary glycerol, Tachycardia |
OMIM:229700 |
Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitati... |
OMIM:616564 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology, Distal a... |
ORPHA:139578 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hypokalemia |
OMIM:605635 |
Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Hypertrophic cardiomyopathy, Adrenal insufficiency, Decreased circula... |
ORPHA:361 |
Pulmonary Hypertension, Primary, 1 |
|
Right ventricular failure, Hypertension, Telangiectasia, Pulmonary artery vasoconstriction, Arter... |
OMIM:178600 |
Sickle Cell Anemia |
|
Hypertension, Hepatomegaly, Hematuria, Cardiomegaly, Splenomegaly, Renal insufficiency, Jaundice |
OMIM:603903 |
Marburg Hemorrhagic Fever |
|
Shock, Hyperamylasemia, Pericarditis, Hypokalemia, Elevated hepatic transaminase, Elevated circul... |
ORPHA:99826 |
Familial Aortic Dissection |
|
Aortic dissection, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, ... |
ORPHA:229 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... |
OMIM:613092 |
Cockayne Syndrome Type 1 |
|
Contractures involving the joints of the feet, Hypertension, Hepatomegaly, Abnormality of periphe... |
ORPHA:90321 |
Episodic Pain Syndrome, Familial, 3 |
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Abnormal autonomic nervous system physiology |
OMIM:615552 |
Familial Cerebral Saccular Aneurysm |
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Hypertension, Aortic dissection, Intracranial hemorrhage, Abnormal circle of Willis morphology, A... |
ORPHA:231160 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
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Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
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Hyperhidrosis, Abnormal autonomic nervous system physiology |
OMIM:615548 |
Fibromuscular Dysplasia, Arterial |
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Aortic dissection, Renovascular hypertension, Arterial fibromuscular dysplasia, Intermittent clau... |
OMIM:135580 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
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Macroscopic hematuria, Hypertension, Focal segmental glomerulosclerosis, Minimal change glomerulo... |
ORPHA:567546 |
Dent Disease |
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Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... |
ORPHA:1652 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
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Dilated cardiomyopathy, Syncope, Tachycardia |
OMIM:615821 |
Zollinger-Ellison Syndrome |
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Increased circulating cortisol level, Gastrointestinal hemorrhage, Pituitary corticotropic cell a... |
ORPHA:913 |
Sneddon Syndrome |
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Cerebral hemorrhage, Hypertension, Facial palsy, Ischemic stroke |
OMIM:182410 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Hepatomegaly, Focal segmental glomerulosclerosis, Mitral valve calcification, Mitral regurgitatio... |
OMIM:619127 |
Pituitary Apoplexy |
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Hyponatremia, Hypertension, Increased circulating prolactin concentration, Hypergonadotropic hypo... |
ORPHA:95613 |
Multiple System Atrophy, Cerebellar Type |
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Orthostatic hypotension due to autonomic dysfunction, Orthostatic syncope, Raynaud phenomenon, Au... |
ORPHA:227510 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Dilated cardiomyopathy, Portal hypertension, Hypertension, Hepatomegaly, Optic atrophy, Raynaud p... |
OMIM:615688 |
Multiple Endocrine Neoplasia Type 1 |
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Shortened QT interval, Thyroid carcinoma, Goiter, Increased circulating cortisol level, Insulinom... |
ORPHA:652 |
Infant Acute Respiratory Distress Syndrome |
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Cardiac arrest, Tachycardia, Bradycardia, Hypotension |
ORPHA:70587 |
Lipodystrophy, Familial Partial, Type 2 |
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Hypertension, Hepatomegaly, Decreased HDL cholesterol concentration, Skeletal muscle hypertrophy,... |
OMIM:151660 |
Pseudohypoaldosteronism, Type Iib |
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Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
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Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia |
OMIM:614495 |
Renal Agenesis |
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Hypertension, Ventricular septal defect, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilat... |
ORPHA:411709 |
Graft Versus Host Disease |
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Skeletal muscle atrophy, Myositis, Tachycardia, Hyperbilirubinemia, Acute hepatitis, Hepatospleno... |
ORPHA:39812 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Hydronephrosis, Ascending tubular aorta aneurys... |
ORPHA:453499 |
Rett Syndrome |
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Skeletal muscle atrophy, Hyperammonemia, Increased serum leptin, Increased serum pyruvate, Abnorm... |
ORPHA:778 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
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Hypertension, Pulmonary arterial hypertension |
OMIM:605711 |
Paroxysmal Hemicrania |
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Hypertension, Diabetes mellitus |
ORPHA:157835 |
Epilepsy, Familial Focal, With Variable Foci 4 |
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Abnormal autonomic nervous system physiology |
OMIM:617935 |
Liddle Syndrome 3 |
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Hypertension, Hypokalemia |
OMIM:618126 |
Aortic Aneurysm, Familial Thoracic 4 |
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Bicuspid aortic valve, Ascending tubular aorta aneurysm, Aortic dissection, Cystic medial necrosi... |
OMIM:132900 |
Moyamoya Disease 6 With Or Without Achalasia |
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