Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
Hypertension, Essential |
|
Elevated diastolic blood pressure, Elevated systolic blood pressure, Elevated mean arterial pressure |
OMIM:145500 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Myocardial infarction, Hypertension |
OMIM:608320 |
Congenital Pulmonary Veins Atresia Or Stenosis |
|
Hypertension |
ORPHA:3188 |
Paragangliomas 6 |
|
Hypertension |
OMIM:618464 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension |
OMIM:605635 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
His Bundle Tachycardia |
|
Cardiomyopathy, Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia |
ORPHA:3283 |
Trimethylaminuria |
|
Trimethylaminuria, Hypertension, Tachycardia |
OMIM:602079 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... |
OMIM:602087 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... |
OMIM:610476 |
Melorheostosis With Osteopoikilosis |
|
Hypertension |
ORPHA:1879 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
Hydroxykynureninuria |
|
Aminoaciduria, Renal tubular dysfunction, Tachycardia, Hypotension |
OMIM:236800 |
Liddle Syndrome 3 |
|
Hypertension |
OMIM:618126 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... |
OMIM:602086 |
Atrial Standstill |
|
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... |
ORPHA:1344 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia |
OMIM:107970 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension, Proteinuria, Nephropathy |
ORPHA:2820 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypospadias, Developmental cataract, Bradyca... |
OMIM:618815 |
Maternally-Inherited Diabetes And Deafness |
|
Hypertrophic cardiomyopathy, Hypertension, Type II diabetes mellitus, Abnormal chorioretinal morp... |
ORPHA:225 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Myopathy, Supraventricular tachycardia, Cardiomyopathy, Fatty replacement of skeletal muscle, Org... |
OMIM:255100 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinu... |
OMIM:137950 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Nail-Patella-Like Renal Disease |
|
Hypertension |
ORPHA:2613 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Proteinuria |
OMIM:189800 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypotension |
OMIM:611489 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Myocardial infarction, Hypertension, Congestive heart failure |
OMIM:614473 |
Coproporphyria, Hereditary |
|
Hypertension, Elevated urinary delta-aminolevulinic acid, Tachycardia, Increased urinary porphobi... |
OMIM:121300 |
Iga Nephropathy, Susceptibility To, 2 |
|
Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... |
OMIM:613944 |
Focal Segmental Glomerulosclerosis 5 |
|
Hypertension |
OMIM:613237 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension |
ORPHA:2111 |
Iga Nephropathy, Susceptibility To, 3 |
|
Hypertension, IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesang... |
OMIM:616818 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Hypertrophic cardiomyopathy, Hypertension, Abnormal heart valve morphology, Congestive heart fail... |
ORPHA:1345 |
Myopathy, Myofibrillar, 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... |
OMIM:601419 |
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 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Hypertension, Developmental cataract, Myopathy, Ragged-red muscle fibers, Left ventricular hypert... |
OMIM:540000 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hypertension |
OMIM:607832 |
Serotonin Syndrome |
|
Mydriasis, Hypertension, Tachycardia, Acute kidney injury, Rhabdomyolysis, Hypotension |
ORPHA:43116 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia |
OMIM:614896 |
Variegate Porphyria |
|
Porphyrinuria, Tachycardia |
OMIM:176200 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Juvenile cataract, Arrhythmia |
OMIM:212500 |
Incessant Infant Ventricular Tachycardia |
|
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... |
ORPHA:45453 |
Atrial Fibrillation, Familial, 18 |
|
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia |
OMIM:617280 |
Infant Botulism |
|
Mydriasis, Hypertension, Keratoconjunctivitis sicca, Cardiac arrest, Hypotension |
ORPHA:178478 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... |
OMIM:601493 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Myocardial infarction, Hypertension, Diabetes mellitus, Sudden cardiac death |
OMIM:610947 |
Renal Failure, Progressive, With Hypertension |
|
Hypertension, Nephritis, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Rena... |
OMIM:161900 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Abnormal heart morpho... |
OMIM:614954 |
Focal Segmental Glomerulosclerosis 2 |
|
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney dise... |
OMIM:603965 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Atrial fibrillation, Endocardial fibrosis, Atrioventricular block, Suprav... |
OMIM:612158 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Myocardial infarction, Renal in... |
ORPHA:54370 |
Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Ventricular tachycardia, Syncope, Cardiac arrest |
OMIM:614916 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension |
OMIM:605115 |
Acute Peripheral Arterial Occlusion |
|
Limb muscle weakness, Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Ab... |
ORPHA:90064 |
Wound Botulism |
|
Mydriasis, Cardiac arrest, Urinary retention |
ORPHA:178475 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Bradycardia, Left ventricular hypertrophy, Congestive heart failure, Inc... |
OMIM:619048 |
Cardiomyopathy, Dilated, 1P |
|
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia |
OMIM:609909 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Proximal amyotrophy, Atrial fibrillation, Bradycardia, Muscular dystrophy, Arrhythmia |
OMIM:614302 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Left atrial enlargement, Abnormal... |
ORPHA:563 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... |
OMIM:611528 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... |
OMIM:604400 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Syncope, Ventricular tachycardia |
ORPHA:3286 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:612098 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Hypertension, Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscop... |
OMIM:601894 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... |
OMIM:614021 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis,... |
OMIM:616201 |
Cocaine Intoxication |
|
Cerebral hemorrhage, Hypertension, Mydriasis, Prolonged QT interval, Tubulointerstitial nephritis... |
ORPHA:90068 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... |
OMIM:608758 |
Iatrogenic Botulism |
|
Orthostatic hypotension, Mydriasis, Urinary retention |
ORPHA:254509 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
Botulism |
|
Mydriasis, Arrhythmia, Urinary retention |
ORPHA:1267 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Focal pancreatic islet hyperplasia, Excessive insulin respo... |
ORPHA:276575 |
Rowley-Rosenberg Syndrome |
|
Cor pulmonale, Hypertension, Right ventricular hypertrophy, Pulmonary arterial hypertension, Amin... |
OMIM:268500 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Palpitations, Ventricular tachycardia, Ventricular hypertrophy, Cardiomyop... |
ORPHA:263297 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Maternal diabetes, Excessive insulin response to glucagon t... |
ORPHA:276580 |
Iga Nephropathy, Susceptibility To, 1 |
|
Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... |
OMIM:161950 |
Sudden Cardiac Failure, Infantile |
|
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis |
OMIM:617222 |
Cardiomyopathy, Dilated, 1B |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... |
OMIM:600884 |
Foodborne Botulism |
|
Mydriasis, Arrhythmia, Urinary retention |
ORPHA:228371 |
Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... |
OMIM:613424 |
Paragangliomas 3 |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Palpitations, Tachycardia, Chemodectoma,... |
OMIM:605373 |
Long Qt Syndrome 16 |
|
T-wave alternans, Prolonged QTc interval, Perimembranous ventricular septal defect, Bradycardia, ... |
OMIM:618782 |
Pituitary Apoplexy |
|
Mydriasis, Hypertension, Increased circulating prolactin concentration, Hypergonadotropic hypogon... |
ORPHA:95613 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal QRS complex, Maternal diabetes, Reduced ejection fraction, Supraventricular tachycardia,... |
ORPHA:45452 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Palpitations, Ventricular tachycardia, Cardiomyopathy, Left ventricular hypertrophy, Myocardial f... |
OMIM:613873 |
Uveal Melanoma |
|
Mydriasis, Zonular cataract, Vitreous hemorrhage, Iris melanoma, Inferior lens subluxation, Cilia... |
ORPHA:39044 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Premature ventricular contraction, Right ventricular dilatation, Ventricular tachycardia, Palpita... |
OMIM:618920 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Ventricular h... |
OMIM:212138 |
Paragangliomas 1 |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Palpita... |
OMIM:168000 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypertension, Ventricular septal defect, EEG abnormality, Arrhythmia |
OMIM:617021 |
Scorpion Envenomation |
|
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Ketonuria, Mydria... |
ORPHA:466677 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Excessive insulin response to glucagon test, Palpitations, ... |
ORPHA:276556 |
Cardiomyopathy, Dilated, 1E |
|
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... |
OMIM:601154 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Ischemic stroke, Hypertension, Raynaud phenomenon |
OMIM:615750 |
Moyamoya Disease With Early-Onset Achalasia |
|
Hypertension, Raynaud phenomenon |
ORPHA:401945 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... |
OMIM:604169 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Elevated urina... |
OMIM:171420 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Diabetes mellitus, Skeletal muscle hypertrophy |
OMIM:613877 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, EMG: myopathic abnor... |
OMIM:609286 |
3-Methylglutaconic Aciduria, Type Viii |
|
3-Methylglutaconic aciduria, Cataract, Bradycardia |
OMIM:617248 |
Tako-Tsubo Cardiomyopathy |
|
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... |
ORPHA:66529 |
Coronary Arterial Fistula |
|
Syncope, Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Systolic he... |
ORPHA:2041 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Ventricular septal defect, Tachycardia, Micropenis, Atrial septal defect, Contractu... |
OMIM:613870 |
Cardiomyopathy, Dilated, 1G |
|
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... |
OMIM:604145 |
Lessel-Kubisch Syndrome |
|
Hypogonadism, Hypertension, Renal insufficiency, Renal hypoplasia |
OMIM:618681 |
Atrial Septal Defect, Sinus Venosus Type |
|
Left-to-right shunt, Right ventricular dilatation, Atrial fibrillation, Systolic heart murmur, Ca... |
ORPHA:99105 |
Liddle Syndrome |
|
Hypertension, Cerebral ischemia, Nephropathy, Renal insufficiency, Arrhythmia |
ORPHA:526 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Bradycardia |
OMIM:614654 |
Cardiomyopathy, Dilated, 1O |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia |
OMIM:608569 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Hyperthyroidism, Familial Gestational |
|
Hyperthyroidism, Increased circulating T4 level, Decreased thyroid-stimulating hormone level, Tac... |
OMIM:603373 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
Fibronectin Glomerulopathy |
|
Cerebral hemorrhage, Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, ... |
ORPHA:84090 |
Morbid Obesity And Spermatogenic Failure |
|
Myocardial infarction, Hypertension, Type II diabetes mellitus, Congestive heart failure |
OMIM:615703 |
Atrial Standstill 1 |
|
Atrial standstill, Ventricular escape rhythm, Endocardial fibroelastosis, Atrial cardiomyopathy, ... |
OMIM:108770 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Syncope, Maternal diabetes, Excessive insulin response to glucagon test, Palpitations, Hyperinsul... |
ORPHA:324575 |
Preeclampsia |
|
Hypertension, Elevated diastolic blood pressure, Elevated systolic blood pressure, Acute kidney i... |
ORPHA:275555 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Pituitary Adenoma 1, Multiple Types |
|
Hypertension, Increased serum insulin-like growth factor 1, Pituitary growth hormone cell adenoma... |
OMIM:102200 |
Wild Type Attr Amyloidosis |
|
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Nephrotic synd... |
ORPHA:330001 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Left anterior fascicular block, Shoulder girdle muscle atrophy, Abnormal left ventricular functio... |
ORPHA:437572 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Acute kidney injury, ... |
ORPHA:567544 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension |
OMIM:145260 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Bradycardia, Hypsarrhythmia, Keratoconus, Patent foramen ovale, Prolon... |
ORPHA:542306 |
Leber Hereditary Optic Neuropathy |
|
Myopathy, Arrhythmia, Retinal telangiectasia, Ventricular preexcitation |
ORPHA:104 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Rhabdomyolysis, Myoglobinuria, Tachycardia, Hypotension |
OMIM:145600 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal QRS complex, Maternal diabetes, Abnormality of blood circulation, Ventricular septal def... |
ORPHA:860 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Tachycardia, Exercise-induced myoglobinuria... |
ORPHA:368 |
Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... |
OMIM:607450 |
Atrial Fibrillation, Familial, 1 |
|
Tachycardia, Atrial fibrillation |
OMIM:608583 |
Atrial Fibrillation, Familial, 3 |
|
Tachycardia, Atrial fibrillation |
OMIM:607554 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension, Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:71529 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... |
ORPHA:300751 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death |
OMIM:612124 |
Amyloidosis, Familial Visceral |
|
Hypertension, Nephrotic syndrome, Hematuria, Nephropathy, Proteinuria |
OMIM:105200 |
Senior-Loken Syndrome |
|
Hypertension, Nephronophthisis, Stage 5 chronic kidney disease, Cataract, Chronic kidney disease |
ORPHA:3156 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypertension, Arrhythmia, Cardiomyopathy |
ORPHA:3222 |
Aapoaiv Amyloidosis |
|
Abnormal cardiac ventricular function, Hypertension, Hypertrophic cardiomyopathy, Sinus bradycard... |
ORPHA:439232 |
Snakebite Envenomation |
|
Intracranial hemorrhage, Epistaxis, Tachycardia, Cerebral ischemia, Cardiogenic shock, Myocardial... |
ORPHA:449285 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... |
OMIM:610193 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Hypertension, Pulmonary arterial hypertension |
OMIM:605711 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Tachycardia, Hyperinsulinemia |
ORPHA:276608 |
Idiopathic Congenital Hypothyroidism |
|
Macroglossia, Elevated circulating thyroid-stimulating hormone concentration, Decreased circulati... |
ORPHA:95717 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:603278 |
Timothy Syndrome |
|
Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Bradycardia, Tetralogy of Fallot,... |
OMIM:601005 |
Familial Dilated Cardiomyopathy |
|
Right ventricular dilatation, Reduced ejection fraction, Atrial fibrillation, Mitral regurgitatio... |
ORPHA:217607 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Cardiomyocyte hypertrophy |
OMIM:605676 |
Long Qt Syndrome 15 |
|
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation |
OMIM:616249 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Ventricular tachycardia, Left bundle branch block, Left ventricular hypertro... |
OMIM:613838 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertension, Insulin-resistant diabetes mellitus at puberty, Calf muscle hypertrophy, Abnormal c... |
ORPHA:280356 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Myopathy, Biventricular hypertrophy, Macroglossia, Cardiomegaly, Bradycardia, Cardiomyopathy, Con... |
OMIM:261740 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... |
OMIM:615441 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hypertension, Nephrotic syndrome, Abnormal mitral valve morphology, Type I diabetes mellitus, Nep... |
ORPHA:1192 |
Cirrhosis, Familial |
|
Hypertension, Pulmonary arterial hypertension, Increased level of L-fucose in urine |
OMIM:215600 |
C3 Glomerulopathy |
|
Hypertension, Nephrotic syndrome, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu... |
ORPHA:329918 |
Grange Syndrome |
|
Hypertension, Aortic regurgitation |
ORPHA:79094 |
Pheochromocytoma |
|
Episodic hypertension, Cerebral hemorrhage, Developmental cataract, Tachycardia, Congestive heart... |
OMIM:171300 |
Myotonic Dystrophy 2 |
|
Type 2 muscle fiber atrophy, Elevated circulating follicle stimulating hormone level, Palpitation... |
OMIM:602668 |
Brugada Syndrome 1 |
|
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... |
OMIM:601144 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... |
OMIM:115200 |
Progressive Familial Heart Block, Type Ib |
|
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Dilated cardiomyopathy, Peroneal muscle atrophy, Peroneal muscle weakness, Limb muscle weakness, ... |
OMIM:181350 |
Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation |
OMIM:611878 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension, Proteinuria, Renal insufficiency, Nephropathy |
OMIM:166300 |
Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Tachycardia, Bradycardia, Hypotension |
ORPHA:70587 |
Tetanus |
|
Hypertension, Elevated urinary epinephrine, Bradycardia, Tachycardia, Elevated urinary norepineph... |
ORPHA:3299 |
Progressive Familial Heart Block, Type Ii |
|
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... |
OMIM:140400 |
Fabry Disease |
|
Hypertension, Lipiduria, Corneal dystrophy, Ventricular septal hypertrophy, Delayed puberty, Myoc... |
OMIM:301500 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hypertension, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Goiter, Palpitations, Tachycardia, Hyperthyroidism, Rhabdomyolysis |
OMIM:188580 |
Hereditary Coproporphyria |
|
Proximal muscle weakness in lower limbs, Porphyrinuria, Tachycardia, Dark urine, Increased urinar... |
ORPHA:79273 |
Denys-Drash Syndrome |
|
Hypertension, Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma |
ORPHA:220 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... |
OMIM:608751 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Hypertrophic cardiomyopathy, Sinus bradycardia, Myofiber disarray, Atrial fibrillation, Ventricul... |
OMIM:600858 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension |
OMIM:600666 |
Liddle Syndrome 2 |
|
Hypertension |
OMIM:618114 |
Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... |
OMIM:609621 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis, Megacystis, Nephrolithiasis, Recurrent urinary tract infections, Fetal pyelectasis, Hy... |
OMIM:619365 |
Potocki-Shaffer Syndrome |
|
Hypertension, Micropenis, Hypothyroidism, Nephroblastoma, Delayed puberty |
ORPHA:52022 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Syncope, Tachycardia |
OMIM:192445 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... |
ORPHA:216694 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Hypertension, Adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting |
OMIM:201910 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:220400 |
Adenine Phosphoribosyltransferase Deficiency |
|
Macroscopic hematuria, Hypertension, Atrial fibrillation, Urinary retention, Urinary hesitancy, D... |
ORPHA:976 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia, Flexion contracture |
OMIM:614498 |
Familial Cervical Artery Dissection |
|
Hypertension, Recurrent cerebral hemorrhage, Cerebral ischemia, Transient ischemic attack, Subara... |
ORPHA:36382 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Hypertension, Congestive heart failure |
OMIM:208000 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Hypertension, Renal dysplasia, Left ventricular hypertrophy, Abnormal renal corticomedullary diff... |
OMIM:616733 |
Atrial Fibrillation, Familial, 10 |
|
Left atrial enlargement, Paroxysmal atrial tachycardia, Tricuspid regurgitation, Left ventricular... |
OMIM:614022 |
Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Hypertension, Corneal erosion, Nephrotic syndrome, Hema... |
OMIM:203780 |
Glucocorticoid Resistance, Generalized |
|
Hypertension |
OMIM:615962 |
Atrial Standstill 2 |
|
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... |
OMIM:615745 |
Familial Thyroid Dyshormonogenesis |
|
Congenital hypothyroidism, Goiter, Macroglossia, Increased radioactive iodine uptake, Decreased c... |
ORPHA:95716 |
Riboflavin Transporter Deficiency |
|
Hypertension, Skeletal muscle atrophy, Diabetes insipidus, Limb muscle weakness, Facial palsy, Hy... |
ORPHA:97229 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hypertension, Pheochromocytoma, Elevated urinary epinephrine, Elevated urinary vanillylmandelic a... |
OMIM:171400 |
Alagille Syndrome 2 |
|
Hypertension, Renal hypoplasia, Posterior embryotoxon, Renal tubular acidosis, Hematuria, Renal c... |
OMIM:610205 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hypertension, Decreased circulating renin level, Abnormality of the urinary ... |
OMIM:103900 |
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Urinary incontinence, Urinary urgency, Hypotension |
OMIM:156310 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage, Cataract, Hypergonadotropic hypogonadi... |
ORPHA:280679 |
Complete Atrioventricular Septal Defect |
|
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Complete atrioventricular canal ... |
ORPHA:1329 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Mydriasis, Hypertension, Hyperperistalsis, Pulmonary arterial hypertension |
OMIM:613834 |
Naxos Disease |
|
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Sudden cardiac deat... |
ORPHA:34217 |
Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... |
OMIM:177650 |
Ventricular Tachycardia, Familial |
|
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block |
OMIM:192605 |
Stiff-Person Syndrome |
|
Hypertension, Asymmetric limb muscle stiffness, Proximal limb muscle stiffness, Tachycardia, Diab... |
OMIM:184850 |
Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... |
OMIM:163800 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Abnormal urinary color, Tachycardia |
ORPHA:90037 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... |
OMIM:619566 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Sinus bradycardia, Skeletal muscle atrophy, Limb muscle weakness, Palpitations, Atrioven... |
OMIM:616812 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:612347 |
Romano-Ward Syndrome |
|
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... |
ORPHA:101016 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
Muscular Dystrophy, Becker Type |
|
Cardiomyopathy, Muscular dystrophy, Calf muscle pseudohypertrophy, Abnormal EKG, Arrhythmia |
OMIM:300376 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy |
OMIM:607487 |
Sneddon Syndrome |
|
Cerebral hemorrhage, Hypertension, Facial palsy, Ischemic stroke |
OMIM:182410 |
Methanol Poisoning |
|
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Type II diabetes mellitus, Permanent ... |
ORPHA:31825 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension |
OMIM:616069 |
Takayasu Arteritis |
|
Hypertrophic cardiomyopathy, Hypertension, Abnormal endocardium morphology, Abnormal aortic valve... |
ORPHA:3287 |
Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia |
OMIM:615916 |
Sneddon Syndrome |
|
Hypertension, Intracranial hemorrhage, Nephropathy |
ORPHA:820 |
Alternating Hemiplegia Of Childhood |
|
Mydriasis, Abnormal T-wave, Cardiac conduction abnormality, Facial hypotonia, Cardiomyopathy, Arr... |
ORPHA:2131 |
Paroxysmal Hemicrania |
|
Conjunctival hyperemia, Hypertension, Miosis, Diabetes mellitus |
ORPHA:157835 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Hypertension, Bicuspid aortic valve, Pulmonary arterial hypertension, Atrial septal defect |
OMIM:613355 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Palpitations, Hyperthyroidism, Tachycardia, Goiter |
OMIM:613239 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Elevated urinary dopamine, Elevated urinary epinephrine, Palpitations, Hemat... |
ORPHA:94080 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Abnormal left ventricle m... |
OMIM:615373 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Renal cortical hyperechogenicity, Mydriasis, Anuria, Megacystis, Fetal megacystis, Pyelonephritis... |
OMIM:619351 |
Hydroxykynureninuria |
|
Renal tubular acidosis, Tachycardia, Hypotension |
ORPHA:79155 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Prolonged QT interval, Abnormal circu... |
ORPHA:251274 |
Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
Pseudohypoaldosteronism, Type Iib |
|
Hypertension |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hypertension |
OMIM:614495 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Congenital hypothyroidism, Goiter, Macroglossia, Decreased circulating T4 level, Bradycardia, Ele... |
ORPHA:226313 |
Sick Sinus Syndrome 4 |
|
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... |
OMIM:619464 |
Frasier Syndrome |
|
Hypertension, Focal segmental glomerulosclerosis, Streak ovary, Nephrotic syndrome, Increased cir... |
ORPHA:347 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy, Subvalvular aortic stenosis |
OMIM:192600 |
Hec Syndrome |
|
Developmental cataract, Endocardial fibroelastosis, Cardiomyopathy, Abnormal pupil morphology, Ar... |
ORPHA:2119 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Hypertension, Type I diabetes mellitus, Anterior hypopituitarism |
ORPHA:181 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal defect, Cardiac arrest, C... |
ORPHA:49827 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension |
ORPHA:757 |
Glutaric Aciduria Iii |
|
Hypertension, Hyperthyroidism, Glutaric aciduria, Goiter |
OMIM:231690 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Hypertension |
OMIM:618061 |
Long Qt Syndrome 14 |
|
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... |
OMIM:616247 |
Arachnoid Cyst |
|
Mydriasis, Urinary bladder sphincter dysfunction, Abnormality of the endocrine system, Facial pal... |
ORPHA:2356 |
Wolff-Parkinson-White Syndrome |
|
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... |
OMIM:194200 |
Nephroblastoma |
|
Aniridia, Hypertension, Hematuria, Nephroblastoma |
ORPHA:654 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Decreased urine output, Reduced ejection fraction, Tachycardia, Heart block, Acute kidney injury,... |
ORPHA:542323 |
Acquired Methemoglobinemia |
|
Palpitations, Syncope, Arrhythmia, Tachycardia |
ORPHA:464453 |
Porphyria, Acute Intermittent |
|
Hypertension, Urinary retention, Dysuria, Tachycardia, Urinary incontinence, Elevated urinary del... |
OMIM:176000 |
Illum Syndrome |
|
Arthrogryposis multiplex congenita, Calcinosis, Bradycardia |
OMIM:208155 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Arrhythmia, Cardiomyopathy, Mitral valve prolapse |
OMIM:614676 |
Congenital Fibrinogen Deficiency |
|
Developmental cataract, Right ventricular hypertrophy, Tachycardia, Left ventricular hypertrophy,... |
ORPHA:335 |
Mercury Poisoning |
|
Hypertension, Acute kidney injury, Tachycardia, Hypotension |
ORPHA:330021 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Cong... |
ORPHA:1349 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Syncope, Tachycardia |
OMIM:615821 |
Familial Dysautonomia |
|
Hypertension, Corneal erosion, Orthostatic hypotension, Tachycardia, Heterochromia iridis, Abnorm... |
ORPHA:1764 |
Naxos Disease |
|
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... |
OMIM:601214 |
Adrenocortical Carcinoma |
|
Hypertension, Increased urinary cortisol level, Increased circulating androstenedione concentrati... |
ORPHA:1501 |
Paragangliomas 4 |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Palpitations, Renal cell carcinoma, Elev... |
OMIM:115310 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... |
OMIM:115000 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Dextrocardia, Hypertension, Situs inversus totalis, Stage 5 chronic kidney disease, Recurrent uri... |
OMIM:613095 |
Long Qt Syndrome 1 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... |
OMIM:192500 |
Long Qt Syndrome 3 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:603830 |
Long Qt Syndrome 2 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613688 |
Long Qt Syndrome 6 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613693 |
Long Qt Syndrome 5 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613695 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Hypertension, Myocardial infarction |
OMIM:133100 |
Polyarteritis Nodosa |
|
Hypertension, Pericarditis, Cardiomyopathy, Raynaud phenomenon, Abnormality of the kidney |
ORPHA:767 |
Ethylene Glycol Poisoning |
|
Shock, Hypertension, Renal tubular dysfunction, Prolonged QT interval, Atrial fibrillation, Decre... |
ORPHA:31826 |
Relapsing Fever |
|
Abnormality of the urinary system, Hematuria, Epistaxis, Tachycardia, Acute kidney injury, Hypote... |
ORPHA:91547 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Joint contracture of the 5th finger, Atrioventricular block, Bradycardia |
OMIM:614407 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypertension, Intracranial hemorrhage, Abnormal T-wave, Neoplasm of the adrenal gland, Decreased ... |
ORPHA:231625 |
Porphyria Variegata |
|
Hypertension, Inappropriate antidiuretic hormone secretion, Porphyrinuria, Tachycardia, Increased... |
ORPHA:79473 |
Isolated Ectopia Lentis |
|
Hypertension, Cataract, Ectopia pupillae, Ectopia lentis |
ORPHA:1885 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Conotruncal defect, Atrioventricular canal defect, Hypoplasi... |
ORPHA:40366 |
Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Hypertension |
OMIM:608600 |
Long Qt Syndrome 9 |
|
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia |
OMIM:611818 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Abnormal heart morphology, Tachycardia |
ORPHA:79264 |
Pulmonary Hypertension, Primary, 1 |
|
Right ventricular failure, Telangiectasia, Hypertension, Right ventricular hypertrophy, Pulmonary... |
OMIM:178600 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... |
ORPHA:90065 |
Xfe Progeroid Syndrome |
|
Hypertension, Proteinuria, Renal insufficiency |
OMIM:610965 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Mitral valve prolapse, Mitral regurgitation, Polycystic kidney dysplasia, Renal ins... |
OMIM:173900 |
Ganglioneuroma |
|
Abnormality of the adrenal glands, Hypertension, Gastrointestinal hemorrhage, Neoplasm of the adr... |
ORPHA:251992 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Partial development of the penile shaft, Bradycardia |
OMIM:608800 |
Alport Syndrome 1, X-Linked |
|
Glomerular basement membrane lamellation, Hypertension, Hypoparathyroidism, Developmental catarac... |
OMIM:301050 |
Sick Sinus Syndrome 1 |
|
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... |
OMIM:608567 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular tachycardia, Cardiomyopathy, Dicarboxylic aciduria, Oliguria, Rhabdomyolysis, Arrhyth... |
ORPHA:159 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level, Nephroc... |
ORPHA:320 |
Coach Syndrome 2 |
|
Hyperechogenic kidneys, Hypertension, Chorioretinal coloboma |
OMIM:619111 |
Loeffler Endocarditis |
|
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Palpitations, ... |
ORPHA:75566 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Ventricular septal defect, Truncus arteriosus, Double outlet right ventricle,... |
ORPHA:3426 |
Cutis Marmorata Telangiectatica Congenita |
|
Telangiectasia, Hypertension, Leukocoria |
OMIM:219250 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology, Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Postural hypotension with compensatory tachycardia, Hypotension |
ORPHA:369873 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
Fanconi Renotubular Syndrome 5 |
|
Hypertension, Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, Glycosuria, Aminoacidu... |
OMIM:618913 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis, Type II diabetes mellitus |
ORPHA:247815 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, Biventricular hypertrophy, ST segment ... |
OMIM:613243 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, Bundle branch block |
OMIM:615616 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Hypertension, Increased urinary cortisol level, Increased circu... |
OMIM:615954 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Abnormal urinary color, Tachycardia |
ORPHA:90033 |
Rhabdoid Tumor |
|
Renal neoplasm, Hypertension, Hematuria, Internal hemorrhage |
ORPHA:69077 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypertension, Ventricular septal defect, Biventricular hypertrophy, Decreased circulating renin l... |
OMIM:615474 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Syncope, Ventricular arrhythmia, Palpitations, Dilatation of the ventricular cavity, Sudden cardi... |
OMIM:609040 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Orthostatic hypotension, Abnormal renal physiology, Glomerular sclerosis, Tachycard... |
OMIM:223900 |
Necrotizing Enterocolitis |
|
Shock, Abnormal heart morphology, Bradycardia, Hypotension |
ORPHA:391673 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Abnormal circulating renin, Epistaxis... |
ORPHA:403 |
Renal Hypoplasia |
|
Hypertension, Hydronephrosis, Abnormality of the ureter, Urethral valve, Pelvic kidney, Glomerulo... |
ORPHA:93101 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Myocardial infarction, Hypertension |
OMIM:615812 |
Nephronophthisis 2 |
|
Pulmonary insufficiency, Hypertension, Chronic tubulointerstitial nephritis, Nephronophthisis, Si... |
OMIM:602088 |
Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... |
ORPHA:99103 |
Malignant Hyperthermia Of Anesthesia |
|
Premature ventricular contraction, Necrotizing myopathy, Myoglobinuria, Ventricular tachycardia, ... |
ORPHA:423 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension |
OMIM:202110 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Abnormal circulating renin, Epistaxis... |
ORPHA:404 |
Pure Autonomic Failure |
|
Syncope, Orthostatic hypotension, Dysuria, Abnormality of circulating catecholamine level, Urinar... |
ORPHA:441 |
Glutamine Deficiency, Congenital |
|
Bradycardia, Flexion contracture, Camptodactyly |
OMIM:610015 |
Neuroendocrine Tumor Of The Colon |
|
Right ventricular failure, Facial telangiectasia, Abnormal pulmonary valve cusp morphology, Atypi... |
ORPHA:100080 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Renal Fanconi syndrome, Hyperinsulinemic hypoglycemia, Tachycardia, Glycosuria, Pancreatic islet-... |
ORPHA:263455 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Atrial fibrillation, Ventricular tachycardia, Atrioventricular block, ... |
ORPHA:137675 |
Carney Triad |
|
Hypertension, Adrenal overactivity, Adrenocortical adenoma, Tachycardia, Leiomyosarcoma, Paragang... |
ORPHA:139411 |
Extracranial Carotid Artery Aneurysm |
|
Hypertension, Total anomalous pulmonary venous return, Cerebral ischemia, Vasculitis, Arteritis, ... |
ORPHA:494424 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
|
Dilatation of the ventricular cavity, Effort-induced polymorphic ventricular tachycardia, Right v... |
OMIM:600996 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Tachycardia |
ORPHA:90036 |
Cardiac Diverticulum |
|
Syncope, Bicuspid aortic valve, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Di... |
ORPHA:1686 |
Pseudohypoaldosteronism, Type Iic |
|
Hypertension |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
|
Hypertension |
OMIM:614496 |
Gitelman Syndrome |
|
Prolonged QT interval, Palpitations, Ventricular tachycardia, Delayed puberty, Hypocalciuria, Rha... |
OMIM:263800 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Hypertension, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal defect, U... |
OMIM:608406 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Ventricular septal defect, Prolonged QT interval, Pericardial effusion, V... |
ORPHA:26793 |
Postorgasmic Illness Syndrome |
|
Palpitations, Hypertension |
ORPHA:279947 |
Ochoa Syndrome |
|
Hypertension, Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Vesicoure... |
ORPHA:2704 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Cardiac arrest, Ventricular tachycardia, Ventricular fibrillation |
OMIM:300952 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Hypertension, Ventricular septal defect, Intracranial hemorrhage, Ventricula... |
ORPHA:369929 |
Cryoglobulinemia, Familial Mixed |
|
Hypertension, Abnormal renal physiology, Hematuria, Chronic kidney disease, Proteinuria |
OMIM:123550 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Corneal scarring, Bradycardia, Tachycardia, Flexion contracture |
OMIM:614653 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Episodic hypertension |
OMIM:619483 |
Long Qt Syndrome 12 |
|
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
Pseudoxanthoma Elasticum |
|
Hypertension, Mitral valve prolapse, Retinal hemorrhage, Renovascular hypertension, Restrictive c... |
OMIM:264800 |
Fabry Disease |
|
Achalasia, Transient ischemic attack, Nephropathy, Hypertrophic cardiomyopathy, Hypertension, Abn... |
ORPHA:324 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Syncope, Myopathy, Pericardial effusion, Atrioventricular block, Ven... |
OMIM:115197 |
Acute Intermittent Porphyria |
|
Hypertension, Proximal muscle weakness in lower limbs, Urinary retention, Dysuria, Porphyrinuria,... |
ORPHA:79276 |
Short Qt Syndrome 3 |
|
Palpitations, Shortened QT interval, Tachycardia |
OMIM:609622 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Impaired sensitivity to thyroid stimulating hormone, Congenital hypothyroidism, Thyroid hypoplasi... |
ORPHA:90673 |
Brugada Syndrome 8 |
|
Ventricular tachycardia, ST segment elevation, Right bundle branch block |
OMIM:613123 |
Alagille Syndrome |
|
Hypertension, Ventricular septal defect, Abnormality of the ureter, Nephrotic syndrome, Telangiec... |
ORPHA:52 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Atrial fibrillation, Skeletal muscle hypertrophy, Tachycardia, Bradycardia... |
OMIM:613327 |
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 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Stress urinary incontinence, Cerebral... |
ORPHA:136 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypertrophic cardiomyopathy, Myoglobinuria, Premature pubarche, Ventricular tachycardia, Torsade ... |
OMIM:616878 |
Heme Oxygenase 1 Deficiency |
|
Hypertension, Hematuria, Epistaxis, Nephritis, Chemosis, Diffuse alveolar hemorrhage, Proteinuria |
OMIM:614034 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension, Myopathy, Hyperinsulinemia |
ORPHA:363400 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Abnormal cardiac septum morphology, Arrhythmia, Bundle branch block |
ORPHA:1479 |
Congenital Hypothyroidism |
|
Hypertension, Goiter, Macroglossia, Nephrolithiasis, Abnormal pericardium morphology, Hypogonadis... |
ORPHA:442 |
Atrioventricular Septal Defect 3 |
|
Hypertension, Pulmonary arterial hypertension, Congestive heart failure, First degree atrioventri... |
OMIM:600309 |
Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Hydronephrosis, Ventricular septal defect, Decreased serum insulin-like g... |
OMIM:614921 |
Aa Amyloidosis |
|
Adrenal insufficiency, Nephrotic syndrome, Abnormality of the kidney, Abnormal heart morphology, ... |
ORPHA:85445 |
Andersen-Tawil Syndrome |
|
Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... |
ORPHA:37553 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Hypertension, Decreased circulating renin level, Increased urinary potassium... |
ORPHA:231580 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Hypertension, Macronodular adrenal hyperplasia, Skeletal muscle atrophy, Pri... |
OMIM:219080 |
Bronchial Neuroendocrine Tumor |
|
Right ventricular failure, Facial telangiectasia, Abnormal pulmonary valve cusp morphology, Palpi... |
ORPHA:97287 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Hypospadias, Pulmonary arterial hypertension, Skeletal muscle atrophy, Bradycardia |
OMIM:619272 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Elevated urinary do... |
ORPHA:276621 |
Plague |
|
Mydriasis, Conjunctival hyperemia, Endocarditis, Tachycardia, Hematemesis, Arrhythmia, Hypotension |
ORPHA:707 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Hypertension, Nephronophthisis, Tubulointerstitial fibrosis, Renal cortico... |
OMIM:256100 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Elevated urinary do... |
ORPHA:29072 |
Stiff Skin Syndrome |
|
Hypertension, Type II diabetes mellitus, Nephrolithiasis |
ORPHA:2833 |
Agenesis Of The Corpus Callosum And Congenital Lymphedema |
|
Right ventricular hypertrophy, Hypertension, Pulmonary arterial hypertension |
OMIM:613623 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction |
OMIM:604401 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Hypertension, Anterior polar cataract, Nephrotic syndro... |
OMIM:104200 |
Neuroblastoma, Susceptibility To, 1 |
|
Hypertension, Elevated urinary vanillylmandelic acid, Horner syndrome, Elevated urinary catechola... |
OMIM:256700 |
Primary Lipodystrophy |
|
Hypertension, Myopathy, Type II diabetes mellitus, Skeletal muscle hypertrophy, Cardiomyopathy, C... |
ORPHA:90970 |
Porphyria |
|
Dupuytren contracture, Hypertension, Abnormal urinary color |
ORPHA:738 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertrophic cardiomyopathy, Hypertension, Abnormality of skeletal muscle fiber size, Maternal di... |
ORPHA:79083 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Limb hypertonia, Decreased nerve conduction velocity, Bradycardia, Hypsarrhythmia, EEG abnormalit... |
ORPHA:565624 |
Pediatric-Onset Graves Disease |
|
Hypertension, Increased circulating T4 level, Atrial fibrillation, Goiter, Palpitations, Puberty ... |
ORPHA:525731 |
Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... |
OMIM:611875 |
Hyperthyroidism, Nonautoimmune |
|
Hyperthyroidism, Tachycardia, Goiter, Thyroid hyperplasia |
OMIM:609152 |
Inhalational Botulism |
|
Mydriasis, Urinary retention |
ORPHA:254504 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Hypertension, Primary hypercortisolism, Increased circulating cortisol level... |
OMIM:615830 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Hypertension, Cardiomegaly, Acute kidney injury, Proteinuria |
OMIM:618886 |
Neuroleptic Malignant Syndrome |
|
Hypertension, Myoglobinuria, Hypertensive crisis, Tachycardia, Bradycardia, Rhabdomyolysis, Urina... |
ORPHA:94093 |
Neuroendocrine Tumor Of The Rectum |
|
Right ventricular failure, Facial telangiectasia, Abnormal pulmonary valve cusp morphology, Atypi... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Right ventricular failure, Facial telangiectasia, Abnormal pulmonary valve cusp morphology, Atypi... |
ORPHA:100082 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hypertension, Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hypertension, Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hypertension, Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hypertension, Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hypertension, Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria |
OMIM:612926 |
Sheehan Syndrome |
|
Central adrenal insufficiency, Abnormal size of pituitary gland, Decreased circulating cortisol l... |
ORPHA:91355 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Triceps weakness, Weakness of facial musculature, Facial diplegia, Brady... |
ORPHA:70 |
16P12.1P12.3 Triplication Syndrome |
|
Abnormal heart morphology, Abnormal tricuspid valve morphology, Tachycardia, Atrial septal defect... |
ORPHA:485405 |
Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Tricuspid regurgitation, C... |
OMIM:613426 |
Lipodystrophy, Familial Partial, Type 3 |
|
Insulin-resistant diabetes mellitus, Hypertension, Maternal diabetes, Hyperinsulinemia |
OMIM:604367 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Decreased circulating renin level, Decreased circulating aldosterone level |
OMIM:218030 |
Familial Pseudohyperkalemia |
|
Hypertension |
ORPHA:90044 |
Overlap Myositis |
|
Hypertension, Perifascicular muscle fiber atrophy, Abnormal heart morphology, Pulmonary arterial ... |
ORPHA:206572 |
Tularemia |
|
Conjunctival hyperemia, Tachycardia, Conjunctivitis |
ORPHA:3392 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Bradycardia |
OMIM:617397 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hypertension, Decreased circulating renin level, Hyperaldosteronism, Hyperca... |
OMIM:613677 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Tubulointerstitial nephritis, Myositis, E... |
ORPHA:183 |
Morgagni-Stewart-Morel Syndrome |
|
Hypertension, Abnormality of the endocrine system, Diabetes mellitus, Hypothyroidism, Abnormality... |
ORPHA:77296 |
Renal Nutcracker Syndrome |
|
Syncope, Orthostatic hypotension, Hematuria, Tachycardia, Microscopic hematuria, Proteinuria, Ren... |
ORPHA:71273 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypertension, Increased serum testosterone level, Intracranial hemorrhage, Increased circulating ... |
ORPHA:90795 |
Liddle Syndrome 1 |
|
Hypertension |
OMIM:177200 |
Autosomal Dominant Polycystic Kidney Disease |
|
Hypertension, Mitral valve prolapse, Pituitary growth hormone cell adenoma, Decreased glomerular ... |
ORPHA:730 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pericardial effusion, Bradycardia |
OMIM:618775 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Intermittent claudication, Aortic va... |
ORPHA:2299 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Hypertension, Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, Atrioventr... |
ORPHA:371428 |
Posterior Urethral Valve |
|
Hypertension, Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral... |
ORPHA:93110 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hypertension, Telangiectasia, Weakness of facial musculature, Glomerular sclerosis, Cardiomyopath... |
ORPHA:247691 |
Alport Syndrome |
|
IgA deposition in the glomerulus, Thin glomerular basement membrane, Tubulointerstitial fibrosis,... |
ORPHA:63 |
Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Global systolic dysfunction, Reduced ejection fraction, Ventricular arrh... |
ORPHA:57777 |
Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Prolonged QTc interval, Arrhythmia, Ventricular fibrillation |
ORPHA:90647 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypertrophic cardiomyopathy, Conjunctivitis, Heavy proteinuria, Mitral regurgitation, Nephrotic s... |
ORPHA:505248 |
Von Hippel-Lindau Disease |
|
Myocarditis, Hypertension, Adrenal pheochromocytoma, Pancreatic endocrine tumor, Palpitations, Re... |
ORPHA:892 |
Acquired Generalized Lipodystrophy |
|
Hypertension, Myopathy, Insulin-resistant diabetes mellitus, Cardiomyopathy, Abnormal cardiovascu... |
ORPHA:79086 |
Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
Schimke Immunoosseous Dysplasia |
|
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Astigmatism, Cerebral ische... |
OMIM:242900 |
Hemorrhagic Fever-Renal Syndrome |
|
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Melena, Chronic kidney diseas... |
ORPHA:340 |
Absence Of The Pulmonary Artery |
|
Abnormal hemidiaphragm morphology, Reduced ejection fraction, Systolic heart murmur, Atrial fibri... |
ORPHA:980 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia |
ORPHA:264675 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Hypertension, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortic... |
OMIM:174000 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Increased urinary glycerol, Tachycardia |
OMIM:229700 |
Simple Cryoglobulinemia |
|
Hypertension, Pericarditis, Nephrotic syndrome, Abnormal heart morphology, Nephritis, Raynaud phe... |
ORPHA:91139 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Renal agenesis, Proteinuria, Renal dysplasia |
OMIM:191830 |
Late-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Renal sodium wasting, Orthostatic hypotension, Elevated ... |
ORPHA:556037 |
Alstrom Syndrome |
|
Dilated cardiomyopathy, Hypertension, Tubulointerstitial nephritis, Diabetes insipidus, Insulin-r... |
OMIM:203800 |
Aorta Coarctation |
|
Hypertension, Bicuspid aortic valve, Pulmonary arterial hypertension, Cardiomegaly, Perimembranou... |
ORPHA:1457 |
Familial Cerebral Saccular Aneurysm |
|
Hypertension, Intracranial hemorrhage, Transient ischemic attack, Subarachnoid hemorrhage |
ORPHA:231160 |
Aicardi-Goutieres Syndrome 9 |
|
Hypertension, Pericarditis, Pericardial effusion, Glomerular sclerosis, Stage 5 chronic kidney di... |
OMIM:619487 |
Oligomeganephronia |
|
Bilateral renal hypoplasia, Hypertension, Renal tubular atrophy, Abnormal nephron morphology, Abn... |
ORPHA:2260 |
Myopathy, Tubular Aggregate, 1 |
|
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscle... |
OMIM:160565 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, ... |
ORPHA:98855 |
Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia |
ORPHA:221098 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Hypertension, Myopathy, Tubulointerstitial nephritis, Nephrotic syndrome, ... |
ORPHA:85450 |
Arterial Tortuosity Syndrome |
|
Hypertension, Congenital diaphragmatic hernia, Aortic regurgitation, Ventricular hypertrophy, Tel... |
OMIM:208050 |
Bardet-Biedl Syndrome |
|
Hypertension, Skeletal muscle atrophy, Nephrotic syndrome, Hypoplasia of the ovary, Hypogonadism,... |
ORPHA:110 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Increased circulating progesterone, Elevated circulating follicle stimulating hormon... |
ORPHA:90793 |
Early-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Renal sodium wasting, Orthostatic hypotension, Elevated ... |
ORPHA:556030 |
Post-Traumatic Pituitary Deficiency |
|
Abnormal prolactin level, Hypogonadotropic hypogonadism, Pituitary hypothyroidism, Decreased circ... |
ORPHA:95619 |
Cardiogenic Shock |
|
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated jugular venous pres... |
ORPHA:97292 |
Cholera |
|
Abnormality of renal excretion, Hypovolemic shock, Decreased urine output, Tachycardia, Acute kid... |
ORPHA:173 |
Pseudoxanthoma Elasticum |
|
Hypertension, Abnormal endocardium morphology, Mitral valve prolapse, Angina pectoris, Nephrocalc... |
ORPHA:758 |
Danon Disease |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Myocardial fibrosis, Generalized amyotrophy,... |
OMIM:300257 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Goiter, Thyroid hypoplasia, Macroglossia, Pituitary hypothyroidism, Decreased thyroid-stimulating... |
ORPHA:90674 |
Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgi... |
ORPHA:75565 |
Sepsis In Premature Infants |
|
Reversible renal failure, Tachycardia, Bradycardia, Oliguria, Hypotension |
ORPHA:90051 |
Brugada Syndrome 2 |
|
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... |
OMIM:611777 |
Bickerstaff Brainstem Encephalitis |
|
Mydriasis, Decreased motor nerve conduction velocity, Weakness of facial musculature, Limb muscle... |
ORPHA:79138 |
Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Proximal upper limb amyotrophy, Proximal mus... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Proximal upper limb amyotrophy, Proximal mus... |
ORPHA:98853 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:618378 |
Caudal Regression Sequence |
|
Hypertension, Ureteral duplication, Abnormality of the ureter, Renal agenesis, Maternal diabetes,... |
ORPHA:3027 |
Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Shock, Myositis, Tachycardia, Recurrent urinary tract infections, Glomerulonephritis... |
ORPHA:36234 |
Juvenile Paget Disease |
|
Hypertension |
ORPHA:2801 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Myocardial infarction, Hypertension, Type II diabetes mellitus |
OMIM:618620 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Macronodular adrenal hyperplasia, Hypertension, Abnormal response to corticotropin releasing horm... |
ORPHA:189427 |
Ectopic Aldosterone-Producing Tumor |
|
Hypertension, Decreased circulating renin level, Epistaxis, Renal cortical adenoma, Glucocortocoi... |
ORPHA:231632 |
Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity, Abnormal pupil morphology, Skeletal muscle atrophy, Skeletal... |
ORPHA:101082 |
Lujo Hemorrhagic Fever |
|
Myocarditis, Shock, Subconjunctival hemorrhage, Bradycardia, Microscopic hematuria, Oliguria, Ren... |
ORPHA:319213 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
EEG abnormality, Limb hypertonia, Hypotension |
OMIM:618480 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Renal salt was... |
OMIM:264350 |
Neuroendocrine Tumor Of Stomach |
|
Right ventricular failure, Facial telangiectasia, Abnormal pulmonary valve cusp morphology, Atypi... |
ORPHA:100075 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Adrenal insufficiency, Subdural hemorrhage, Melena, Diffuse alveolar hemorrhage, Abn... |
ORPHA:99827 |
Corticosterone Methyloxidase Type I Deficiency |
|
Renal salt wasting, Decreased circulating aldosterone level, Increased circulating renin level, H... |
OMIM:203400 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertrophic cardiomyopathy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower li... |
ORPHA:98863 |
Encephalitis Lethargica |
|
Urinary incontinence, Bradycardia, Upper limb muscle weakness |
ORPHA:83600 |
Buschke-Ollendorff Syndrome |
|
Hypertension, Generalized limb muscle atrophy, Renal insufficiency, Flexion contracture |
ORPHA:1306 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Sinus bradycardia |
OMIM:126320 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Myopathy, Cataract, Abnormal calcium-phosphate regulating hormone level, Neph... |
ORPHA:2238 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Reduced ejection fraction, Angi... |
ORPHA:85451 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Bartter Syndrome, Type 3 |
|
Renal salt wasting, Hyperactive renin-angiotensin system, Increased urinary potassium, Hypocalciu... |
OMIM:607364 |
Renal Agenesis |
|
Hypertension, Ventricular septal defect, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilat... |
ORPHA:411709 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
Arteriosclerosis, Severe Juvenile |
|
Myocardial infarction, Hypertension, Chronic kidney disease, Delayed puberty |
OMIM:208060 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Adrenal hyperplasia, Hypertension, Increased urinary cortisol level, Proximal amyotrophy, Type II... |
ORPHA:189439 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Hypertension, Abnormal nephron morpholog... |
ORPHA:93108 |
Chromosome 5Q12 Deletion Syndrome |
|
Hypotension |
OMIM:615668 |
Blau Syndrome |
|
Hypertension, Pericarditis, Flexion contracture of toe, Nongranulomatous uveitis, Uveitis, Catara... |
OMIM:186580 |
Diffuse Cutaneous Systemic Sclerosis |
|
Hypertensive crisis, Telangiectasia of the skin, Pulmonary arterial hypertension, Oliguria, Conge... |
ORPHA:220393 |
Joubert Syndrome 14 |
|
Hypertension, Renal cyst |
OMIM:614424 |
Schimke Immuno-Osseous Dysplasia |
|
Hypertension, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Pulmonary ar... |
ORPHA:1830 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation |
OMIM:612956 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy, Hypertension, Hypospadias, Cataract, 3-Methylglutaconic aciduria, Ar... |
OMIM:614052 |
Congenital Tricuspid Stenosis |
|
Tricuspid stenosis, Pulmonary arterial hypertension, Tricuspid regurgitation, Congestive heart fa... |
ORPHA:95459 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Premature ventricular contraction, Bacterial endocarditis, Heart block |
ORPHA:1964 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Decreased circulating aldosterone level, Orthostatic hypotension, Adrenocorticotropin receptor de... |
OMIM:231550 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Pituitary hypothyroidism, Hypopituitarism, Adrenocorticotropic hormone deficiency, Central diabet... |
ORPHA:91354 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Corneal... |
ORPHA:1067 |
Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia |
OMIM:141000 |
Autoimmune Hypoparathyroidism |
|
Autoimmune hypoparathyroidism, Prolonged QT interval, Ventricular arrhythmia, Cataract, Calcium n... |
ORPHA:36913 |
Denys-Drash Syndrome |
|
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Congenital diaphragmatic he... |
OMIM:194080 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hypertension, Tubulointerstitial fibrosis, Renal cyst, Polycystic kidney dysplasia, Absence of re... |
OMIM:263200 |
Monosomy 18P |
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