Deafness, Autosomal Recessive 84B |
|
Vestibular hypofunction, Hearing impairment |
OMIM:614944 |
Deafness, Autosomal Recessive 84A |
|
Vestibular dysfunction, Hearing impairment |
OMIM:613391 |
Deafness, Autosomal Recessive 1B |
|
Vestibular dysfunction, Hearing impairment |
OMIM:612645 |
Deafness, Autosomal Dominant 73 |
|
Hearing impairment |
OMIM:617663 |
Deafness, Autosomal Recessive 65 |
|
Hearing impairment |
OMIM:610248 |
Deafness, Autosomal Recessive 86 |
|
Hearing impairment |
OMIM:614617 |
Deafness, Autosomal Dominant 4B |
|
Hearing impairment |
OMIM:614614 |
Deafness, Autosomal Dominant 24 |
|
Hearing impairment |
OMIM:606282 |
Deafness, Autosomal Recessive 6 |
|
Hearing impairment |
OMIM:600971 |
Deafness, Autosomal Dominant 51 |
|
Hearing impairment |
OMIM:613558 |
Deafness, Autosomal Recessive 33 |
|
Hearing impairment |
OMIM:607239 |
Deafness, Autosomal Recessive 96 |
|
Hearing impairment |
OMIM:614414 |
Deafness, Autosomal Recessive 93 |
|
Hearing impairment |
OMIM:614899 |
Deafness, Autosomal Dominant 56 |
|
Hearing impairment |
OMIM:615629 |
Tune Deafness |
|
Hearing impairment |
OMIM:191200 |
Deafness, Autosomal Dominant 54 |
|
Hearing impairment |
OMIM:615649 |
Deafness, Autosomal Dominant 15 |
|
Hearing impairment |
OMIM:602459 |
Deafness, Autosomal Dominant 52 |
|
Hearing impairment |
OMIM:607683 |
Deafness, Autosomal Recessive 89 |
|
Hearing impairment |
OMIM:613916 |
Deafness, Autosomal Dominant 74 |
|
Hearing impairment |
OMIM:618140 |
Deafness, Autosomal Recessive 55 |
|
Hearing impairment |
OMIM:609952 |
Deafness, Autosomal Recessive 47 |
|
Hearing impairment |
OMIM:609946 |
Deafness, Autosomal Recessive 106 |
|
Hearing impairment |
OMIM:617637 |
Deafness, Autosomal Recessive 107 |
|
Hearing impairment |
OMIM:617639 |
Deafness, Autosomal Recessive 74 |
|
Hearing impairment |
OMIM:613718 |
Deafness, Autosomal Recessive 70 |
|
Hearing impairment |
OMIM:614934 |
Deafness, Autosomal Recessive 18B |
|
Hearing impairment |
OMIM:614945 |
Deafness, Autosomal Recessive 25 |
|
Progressive sensorineural hearing impairment, Hearing impairment |
OMIM:613285 |
Deafness, X-Linked 6 |
|
Cochlear malformation, Hearing impairment |
OMIM:300914 |
Deafness, Autosomal Recessive 30 |
|
Progressive hearing impairment, Progressive sensorineural hearing impairment |
OMIM:607101 |
Deafness, Autosomal Recessive 29 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:614035 |
Deafness, Autosomal Recessive 20 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:604060 |
Deafness, Autosomal Recessive 13 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:603098 |
Deafness, Autosomal Recessive 57 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:618003 |
Opticocochleodentate Degeneration |
|
Cochlear degeneration, Optic atrophy, Hearing impairment |
OMIM:258700 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Deafness, Autosomal Dominant 49 |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:608372 |
Deafness, X-Linked 4 |
|
Sensorineural hearing impairment, High-frequency hearing impairment |
OMIM:300066 |
Deafness, Mid-Tone Neural |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:124700 |
Deafness, Autosomal Dominant 9 |
|
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment, Abnormali... |
OMIM:601369 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Deafness, Autosomal Recessive 39 |
|
Prelingual sensorineural hearing impairment |
OMIM:608265 |
Pendred Syndrome |
|
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear malformation |
OMIM:274600 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
OMIM:172500 |
Placental Insufficiency |
|
Eclampsia, Preeclampsia, Intrauterine growth retardation, Maternal hypertension, Spontaneous abor... |
ORPHA:439167 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear aplasia |
OMIM:619553 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Incomplete partition of the cochlea, Progressive sensorineural hea... |
OMIM:303110 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
Non-Syndromic Genetic Deafness |
|
Conductive hearing impairment, Moderate hearing impairment, High-frequency hearing impairment, Ch... |
ORPHA:87884 |
Meniere Disease |
|
Tinnitus, Vertigo, Hearing impairment |
OMIM:156000 |
Branchiootic Syndrome 1 |
|
Cochlear malformation, Dilatated internal auditory canal, Hypoplasia of the cochlea, Sensorineura... |
OMIM:602588 |
Deafness, Autosomal Dominant 41 |
|
Tinnitus, Progressive sensorineural hearing impairment, Hearing impairment |
OMIM:608224 |
Cardiac Conduction Defect |
|
Syncope, Arrhythmia |
OMIM:115080 |
Usher Syndrome Type 1 |
|
Subcortical cerebral atrophy, Sensorineural hearing impairment, Iris hypopigmentation, Vestibular... |
ORPHA:231169 |
Deafness, Autosomal Dominant 50 |
|
Progressive hearing impairment, Tinnitus, Sensorineural hearing impairment, Progressive sensorine... |
OMIM:613074 |
Deafness, X-Linked 2 |
|
Conductive hearing impairment, Dilatated internal auditory canal, Congenital sensorineural hearin... |
OMIM:304400 |
Usher Syndrome Type 3 |
|
Sensorineural hearing impairment, Abnormal cochlea morphology, Iris hypopigmentation, Vestibular ... |
ORPHA:231183 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal,... |
OMIM:619274 |
Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Enlarged cochlear aqueduct, Stapes ankylosis, Progressive sensorin... |
ORPHA:90646 |
Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Leukopenia, Prolonged prothrombin time, Anemia, Nodular regenerative hy... |
ORPHA:64743 |
Otosclerosis 7 |
|
Progressive hearing impairment, Conductive hearing impairment, Otosclerosis, Abnormality of the a... |
OMIM:611572 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
Deafness, Autosomal Dominant 58 |
|
Tinnitus, Hearing impairment |
OMIM:615654 |
Deafness, Autosomal Dominant 2A |
|
Tinnitus, Hearing impairment |
OMIM:600101 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas |
ORPHA:3032 |
His Bundle Tachycardia |
|
Cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia |
ORPHA:3283 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Cochlear degeneration, Spinocerebellar atrophy, Optic atrophy, Hearing impairment |
ORPHA:95433 |
Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:612098 |
Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Hepatomegaly, Neutropenia, Pancytopenia, Prolonged QT interval, Atriovent... |
ORPHA:398124 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Anemia, Cardiomyopathy, Cirrhosis, Hepatic steatosis, Arrhythmia |
OMIM:606069 |
Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Hepatomegaly, Cardiomyopathy, Splenomegaly, Cirrhosis, Congestive heart f... |
OMIM:602390 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypertension, Intrauterine growth retardation, Sideroblastic anemia, Decreased liver function, Th... |
OMIM:617021 |
Nathalie Syndrome |
|
Arrhythmia |
ORPHA:2663 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Severe intrauterine growth retardation, Intrauterine growth retardation, Small placenta |
ORPHA:73272 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Oligohydramnios, Intrauterine growth retardation, Small placenta |
ORPHA:397590 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
Propionic Acidemia |
|
Hepatomegaly, Arrhythmia, Cardiomyopathy |
ORPHA:35 |
Pendred Syndrome |
|
Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Vertigo, Sensorineural hearing impairmen... |
ORPHA:705 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly, Syncope, Palpitations, Elevated jugular venous pressure, Pulmonary arterial hyperte... |
ORPHA:422 |
Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Abnormality of somatosensory evoked potentials, Caudate atrophy, Global brain atro... |
ORPHA:52368 |
Long-Thumb Brachydactyly Syndrome |
|
Arrhythmia |
OMIM:112430 |
Polycythemia Vera |
|
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... |
OMIM:263300 |
Bor Syndrome |
|
Enlarged cochlear aqueduct, Hypoplasia of the cochlea, Facial palsy, Hearing impairment, Abnormal... |
ORPHA:107 |
Rhabdoid Tumor |
|
Hypertension, Anemia, Neoplasm of the liver, Thrombocytopenia, Internal hemorrhage |
ORPHA:69077 |
Congenital Factor X Deficiency |
|
Menorrhagia, Gingival bleeding, Post-partum hemorrhage, Prolonged prothrombin time, Joint hemorrh... |
ORPHA:328 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hep... |
OMIM:603471 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Cardiac arrest, Splenomegaly |
ORPHA:77260 |
Vestibulocochlear Dysfunction, Progressive |
|
Progressive hearing impairment, Tinnitus, Vestibular areflexia |
OMIM:193005 |
Typhoid |
|
Hepatomegaly, Epistaxis, Splenomegaly, Gastrointestinal hemorrhage, Cardiac arrest, Arrhythmia |
ORPHA:99745 |
Cardiomyopathy, Dilated, 1E |
|
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... |
OMIM:601154 |
Atrial Standstill |
|
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... |
ORPHA:1344 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:300696 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Gastrointestinal hemorrhage, Microcytic anemia, Prolonged bleeding time, Congestive... |
ORPHA:90308 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Arrhyt... |
ORPHA:156 |
Atrial Septal Defect, Sinus Venosus Type |
|
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... |
ORPHA:99105 |
Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Macular purpura, Prolonged prothrombin time, Hepatic failure, Thr... |
ORPHA:49566 |
Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Large placenta, Umbilical hernia, Polyhydramnios |
ORPHA:254534 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... |
ORPHA:45452 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... |
OMIM:614021 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Telangiectasia, Hepatocellular carcinoma, Cardiomyopathy, Splenomegaly, Cirrhosis, ... |
OMIM:235200 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Retinal telangiectasia, Ventricular preexcitation |
ORPHA:104 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Hypertension, Increased red blood cell mass, Splenomegaly, Myocardial infarc... |
OMIM:133100 |
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 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Global systolic dysfunction, Reduced ejection fraction, Ventricular arrhythmia, Pro... |
ORPHA:57777 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Arrhythmia |
OMIM:618453 |
Incessant Infant Ventricular Tachycardia |
|
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... |
ORPHA:45453 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Atrioventricular block, Left bundle branch bl... |
OMIM:115197 |
Congenital Fibrinogen Deficiency |
|
Splenic rupture, Gingival bleeding, Prolonged prothrombin time, Tachycardia, Subcutaneous hemorrh... |
ORPHA:335 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Arrhythmia, Intrauterine growth retardation, Cardiomyopathy |
OMIM:616198 |
Familial Progressive Cardiac Conduction Defect |
|
Syncope, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia |
ORPHA:871 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... |
OMIM:222800 |
Wolff-Parkinson-White Syndrome |
|
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... |
OMIM:194200 |
Brugada Syndrome 1 |
|
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... |
OMIM:601144 |
Familial Dilated Cardiomyopathy |
|
Reduced ejection fraction, Atrial fibrillation, Mitral regurgitation, Palpitations, Ventricular a... |
ORPHA:217607 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Arrhythmia, Hepatic steatosis |
OMIM:255120 |
Fetal Akinesia Deformation Sequence 1 |
|
Short umbilical cord, Intrauterine growth retardation, Fetal akinesia sequence, Premature birth, ... |
OMIM:208150 |
Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Hepatic fibrosis, Hepatocellular carcinoma, Hypochromic microcytic anemia... |
ORPHA:231226 |
Wild Type Attr Amyloidosis |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, ... |
ORPHA:330001 |
Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Hepatomegaly, Anisopoikilocytosis, Hepatic fibrosis, Hepatocellular carci... |
ORPHA:231214 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hepatomegaly, Ventricular tachycardia, Atrioventricular block,... |
OMIM:212138 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Hepatomegaly, Syncope, Paroxysmal atrial fibrillation, Red... |
ORPHA:1677 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... |
OMIM:604400 |
Pulmonary Arteriovenous Malformation |
|
Telangiectasia, Heart murmur, Iron deficiency anemia, Palpitations, Epistaxis, Pulmonary arterial... |
ORPHA:2038 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Atrial Fibrillation, Familial, 4 |
|
Atrial fibrillation, Palpitations, Permanent atrial fibrillation, Premature atrial contractions, ... |
OMIM:611493 |
Atrial Fibrillation, Familial, 18 |
|
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia |
OMIM:617280 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Intrauterine growth retardation, Congestive heart fail... |
ORPHA:1194 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Abnormal left ventricular... |
OMIM:615373 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Arrhythmia |
OMIM:300695 |
Autoimmune Hemolytic Anemia |
|
Splenomegaly, Congestive heart failure, Hemolytic anemia, Arrhythmia, Abnormal leukocyte morphology |
ORPHA:98375 |
Mahvash Disease |
|
Palpitations, Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis |
OMIM:619290 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Intrauterine growth retardation, Hepatic fibrosis, Polyhydramnios, Abnormality of t... |
OMIM:222470 |
Jervell And Lange-Nielsen Syndrome |
|
Syncope, Iron deficiency anemia, Torsade de pointes, Prolonged QTc interval, Arrhythmia, Ventricu... |
ORPHA:90647 |
Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology |
ORPHA:1332 |
Porphyria Cutanea Tarda |
|
Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepatitis, Hepatic lobular... |
ORPHA:101330 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Subdural hemorrhage, Melena, Splenomegaly, Acute pancreatitis, Pancytopenia, Diffuse... |
ORPHA:99827 |
Dystonia 23 |
|
Arrhythmia |
OMIM:614860 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy |
OMIM:192600 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatomegaly, Cardiomyopathy, Hepatic steatosis, Hepatic failure, Elevated hepatic transaminase, ... |
ORPHA:228305 |
Polymyositis |
|
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Pericarditis, Abnormal atriove... |
ORPHA:732 |
American Trypanosomiasis |
|
Myocarditis, Hepatomegaly, Cardiomyopathy, Splenomegaly, Congestive heart failure, Arrhythmia |
ORPHA:3386 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Abnormal EKG, Eosinophilia, Abnormal P wave, Reduced ejection fraction, Mitral regu... |
ORPHA:75565 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... |
OMIM:611528 |
Tako-Tsubo Cardiomyopathy |
|
Syncope, Hypertension, Prolonged QT interval, Decreased QRS voltage, Ventricular arrhythmia, Mitr... |
ORPHA:66529 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Atrial fibrillation, Mitral regurgitation, Tr... |
ORPHA:75249 |
Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Myocardial infarction, Reticulocytosis, Thrombocytopenia, Arrh... |
ORPHA:54057 |
Infantile Refsum Disease |
|
Hepatomegaly, Arrhythmia, Cardiomyopathy |
ORPHA:772 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure, Pulmonary embolism, Arrhythmia |
ORPHA:1345 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... |
OMIM:608758 |
Symmetrical Thalamic Calcifications |
|
Arrhythmia |
ORPHA:1314 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Elevated jugular venous pressure, Car... |
ORPHA:465508 |
Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... |
ORPHA:85451 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase, Arrhythmia |
ORPHA:42 |
Mastocytosis |
|
Hepatomegaly, Acute leukemia, Chronic leukemia, Telangiectasia of the skin, Splenomegaly, Gastroi... |
ORPHA:98292 |
Neu-Laxova Syndrome 1 |
|
Short umbilical cord, Intrauterine growth retardation, Decreased fetal movement, Stillbirth, Smal... |
OMIM:256520 |
Subaortic Stenosis-Short Stature Syndrome |
|
Biliary tract abnormality, Arrhythmia |
ORPHA:3191 |
Maternally-Inherited Diabetes And Deafness |
|
Hypertrophic cardiomyopathy, Hypertension, Arrhythmia, Congestive heart failure |
ORPHA:225 |
Hepatocellular Carcinoma |
|
Hepatomegaly, Thrombocytosis, Hemobilia, Budd-Chiari syndrome, Polycythemia, Hepatic necrosis, An... |
ORPHA:88673 |
Duodenal Neuroendocrine Tumor |
|
Right ventricular failure, Tricuspid stenosis, Iron deficiency anemia, Palpitations, Hematemesis,... |
ORPHA:100076 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Hypertrophic cardiomyopathy, Palpitations, Restrictive cardiomyopathy, Cardiac arrest, Congestive... |
OMIM:608751 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... |
OMIM:115200 |
Loeffler Endocarditis |
|
Pericarditis, Mitral regurgitation, Palpitations, Aortic regurgitation, Restrictive cardiomyopath... |
ORPHA:75566 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Hypertension, Congestive heart failure, Wolff-Parkinson-White syndrome, Abnormal left ventricular... |
OMIM:540000 |
Xq21 Microdeletion Syndrome |
|
Conductive hearing impairment, Optic atrophy, Dilatated internal auditory canal, Stapes ankylosis... |
ORPHA:1435 |
Barth Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Neutropenia, Congestive heart failure, Granu... |
OMIM:302060 |
Neuroendocrine Tumor Of The Colon |
|
Right ventricular failure, Hepatomegaly, Facial telangiectasia, Palpitations, Melena, Tricuspid r... |
ORPHA:100080 |
Muscular Dystrophy, Progressive Pectorodorsal |
|
Arrhythmia |
OMIM:310095 |
Al Amyloidosis |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Abnormal P wave, Anemia, Abnormality of the liver, Gas... |
ORPHA:85443 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Arrhythmia, Bradycardia, Atrial fibrillation |
OMIM:614302 |
Progressive Familial Heart Block, Type Ib |
|
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Arrhythmia, Cardiomyopathy |
OMIM:612999 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Polycythemia, Cirrhosis, Decreased liver function, Elevated hepatic transaminase |
OMIM:613280 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... |
ORPHA:300751 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... |
OMIM:615441 |
Restrictive Dermopathy |
|
Short umbilical cord, Intrauterine growth retardation, Premature delivery because of cervical ins... |
ORPHA:1662 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Arrhythmia, Bundle branch block |
ORPHA:1479 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Spontaneous, recurrent epistaxis, Melena, Transient ischemic attack, Nasal mucosa telangiectasia,... |
OMIM:600376 |
Wiskott-Aldrich Syndrome |
|
Neutropenia, Petechiae, Hypoplasia of the thymus, Chronic leukemia, Recurrent intrapulmonary hemo... |
ORPHA:906 |
Ileal Neuroendocrine Tumor |
|
Right ventricular failure, Tricuspid stenosis, Iron deficiency anemia, Palpitations, Arterial occ... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Right ventricular failure, Tricuspid stenosis, Iron deficiency anemia, Palpitations, Arterial occ... |
ORPHA:100077 |
Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, Atrial fibrillation, Mitral regurgitatio... |
ORPHA:99103 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Dilated cardiomyopathy, Arrhythmia, Sudden cardiac death |
OMIM:181350 |
Neuroendocrine Tumor Of The Rectum |
|
Right ventricular failure, Hepatomegaly, Facial telangiectasia, Palpitations, Melena, Tricuspid r... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Right ventricular failure, Hepatomegaly, Facial telangiectasia, Palpitations, Melena, Tricuspid r... |
ORPHA:100082 |
Dk1-Cdg |
|
Elevated hepatic transaminase, Dilated cardiomyopathy, Arrhythmia, Congestive heart failure |
ORPHA:91131 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Intrauterine growth retardation, Large placenta, Umbilical hernia, Polyhydramnios |
ORPHA:254528 |
Naxos Disease |
|
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Sudden cardiac deat... |
ORPHA:34217 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Arrhythmia, Cardiomyopathy |
OMIM:614676 |
Coronary Arterial Fistula |
|
Syncope, Systolic heart murmur, Continuous heart murmur, Palpitations, Elevated jugular venous pr... |
ORPHA:2041 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Abnormality of the liver, Arrhythmia, Elevated hepatic transaminase |
OMIM:610131 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Ventricular tachycardia, Cardiomyopathy, Hepatic failure, Elevated hepatic transami... |
ORPHA:159 |
Neuroendocrine Tumor Of Stomach |
|
Right ventricular failure, Hepatomegaly, Facial telangiectasia, Iron deficiency anemia, Palpitati... |
ORPHA:100075 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hyperechogenic pancreas, Abnormal liver parench... |
ORPHA:456312 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hepatomegaly, Prolonged QT interval, Ventricular tachycardia, Atrioventri... |
ORPHA:26793 |
Mitochondrial Trifunctional Protein Deficiency |
|
Dilated cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Congestive... |
OMIM:609015 |
Hellp Syndrome |
|
Cerebral hemorrhage, Internal hemorrhage, Microangiopathic hemolytic anemia, Prolonged prothrombi... |
ORPHA:244242 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Ventricular tachycardia, Cardiomyopathy, Right bundle branch block, ST segment elev... |
ORPHA:263297 |
Long Qt Syndrome 14 |
|
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... |
OMIM:616247 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thiamine-responsive megaloblastic anemia, Cardiomyopathy, Sideroblastic anemia, Thrombocytopenia,... |
OMIM:249270 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Arrhythmia |
ORPHA:1808 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... |
OMIM:610193 |
Mitochondrial Trifunctional Protein Deficiency |
|
Mitral regurgitation, Cardiomyopathy, Tricuspid regurgitation, Diffuse hepatic steatosis, Cholest... |
ORPHA:746 |
Kagami-Ogata Syndrome |
|
Premature birth, Large placenta, Hepatoblastoma, Polyhydramnios |
ORPHA:254519 |
Legionnaires Disease |
|
Myocarditis, Pericarditis, Hepatitis, Pancreatitis, Splenomegaly, Lymphopenia, Arrhythmia, Hypote... |
ORPHA:549 |
Acquired Methemoglobinemia |
|
Syncope, Palpitations, Methemoglobinemia, Tachycardia, Arrhythmia |
ORPHA:464453 |
Yellow Fever |
|
Shock, Leukocytosis, Reduced ejection fraction, Capillary leak, Prolonged prothrombin time, Brady... |
ORPHA:99829 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Arrhythmia |
OMIM:616516 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:614702 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Arrhythmia, Congestive heart failure |
ORPHA:157973 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure |
ORPHA:85446 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Spina bifida occulta, Arrhythmia, Bruising susceptibility |
ORPHA:230839 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia, Arrhythmia |
OMIM:616949 |
Romano-Ward Syndrome |
|
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... |
ORPHA:101016 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Palpitations, Vacuolated lymphocytes, Low-output congestive heart failure, Pancreat... |
ORPHA:565612 |
Short Qt Syndrome 1 |
|
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... |
OMIM:609620 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Reduced ejection fraction, Tachycardia, Heart block, Elevated hepatic transaminase, Arrhythmia, H... |
ORPHA:542323 |
Long Qt Syndrome 15 |
|
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation |
OMIM:616249 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Leukocytosis, Hypertension, Intracranial hemorrhage, Ecchymosis, Petechiae, Palpitations, ... |
ORPHA:340 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Spontaneous, recurrent epistaxis, Melena, Transient ischemic attack, Nasal mucosa telangiectasia,... |
OMIM:187300 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Leukocytosis, Pericarditis, Pancreatitis, Arrhythmia, Hypotension |
ORPHA:188 |
Meckel Syndrome, Type 1 |
|
Intrauterine growth retardation, Malformation of the hepatic ductal plate, Asplenia, Bile duct pr... |
OMIM:249000 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Hepatomegaly, Hepatic calcification, Antenatal intracerebral hemorrhage, ... |
OMIM:608836 |
Diaphanospondylodysostosis |
|
Abnormal liver lobulation, Intrauterine growth retardation |
OMIM:608022 |
Mosaic Trisomy 16 |
|
Maternal diabetes, Preeclampsia, Intrauterine growth retardation, Premature birth, Single umbilic... |
ORPHA:1708 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Arrhythmia |
ORPHA:99944 |
Liddle Syndrome |
|
Hypertension, Arrhythmia, Cerebral ischemia |
ORPHA:526 |
Marburg Hemorrhagic Fever |
|
Petechiae, Neutrophilia in presence of infection, Prolonged prothrombin time, Excessive bleeding ... |
ORPHA:99826 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hypovolemic shock, Arrhythmia, Cholelithiasis |
ORPHA:171876 |
Eisenmenger Syndrome |
|
Right ventricular failure, Syncope, Left-to-right shunt, Ventricular arrhythmia, Increased pulmon... |
ORPHA:97214 |
Attrv30M Amyloidosis |
|
Atrioventricular block, Arrhythmia, Cardiomyopathy |
ORPHA:85447 |
Microscopic Polyangiitis |
|
Pericarditis, Peritonitis, Epistaxis, Pancreatitis, Subcutaneous hemorrhage, Gastrointestinal hem... |
ORPHA:727 |
19P13.12 Microdeletion Syndrome |
|
Intrauterine growth retardation, Mitral regurgitation, Aortic regurgitation, Hepatic steatosis, A... |
ORPHA:254346 |
Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... |
OMIM:611875 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomyopathy, Decreased liver function, Acute pancreatitis, Congestive heart fail... |
ORPHA:26791 |
Salih Myopathy |
|
Dilated cardiomyopathy, Arrhythmia |
OMIM:611705 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Arrhythmia |
ORPHA:2928 |
Congenital Left Ventricular Aneurysm |
|
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure |
ORPHA:1055 |
Atrial Septal Defect, Coronary Sinus Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, Systolic heart murmur, Palpitations, Pul... |
ORPHA:99104 |
Congenital Hypothyroidism |
|
Hypertension, Umbilical hernia, Prolonged neonatal jaundice, Arrhythmia, Hypotension |
ORPHA:442 |
Mosaic Trisomy 9 |
|
Abnormal liver lobulation, Spina bifida, Intrauterine growth retardation, Asplenia |
ORPHA:99776 |
Atrial Septal Defect, Ostium Primum Type |
|
Syncope, Abnormal P wave, Atrial fibrillation, Mitral regurgitation, Systolic heart murmur, Palpi... |
ORPHA:99106 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Retinal hemorrhage, Elevated serum transaminases during infections, S... |
ORPHA:509 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Telangiectasia, Mitral regurgitation, Epistaxis, Anemia, Hepatic arteriovenous malformation, Hema... |
OMIM:175050 |
Long Qt Syndrome 9 |
|
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia |
OMIM:611818 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Abnormal left ventricular function, Arrhythmia |
OMIM:618098 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Cardiomyopathy |
ORPHA:3222 |
Sarcoidosis |
|
Hemolytic anemia, Hepatomegaly, Abnormal cardiac ventricular function, Leukopenia, Increased T ce... |
ORPHA:797 |
Restrictive Dermopathy 1 |
|
Short umbilical cord, Intrauterine growth retardation, Premature rupture of membranes, Premature ... |
OMIM:275210 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Bradycardia, Prolonged PR interval, Sick sinus syndrome, Arrhythmia |
ORPHA:542306 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Dilated cardiomyopathy, Arrhythmia |
OMIM:615084 |
Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Atrial fibrillation, Aortic regurgitation, Cardiac arrest, Sick sinus syndrome... |
OMIM:163800 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Hepatic calcification, Cardiomyopathy, Heart block, Hepatic steatosis, Hepatic fail... |
ORPHA:228308 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Hepatic calcification, Cardiomyopathy, Hepatic failure, Arrhythmia |
ORPHA:157 |
Polyvalvular Heart Disease Syndrome |
|
Aortic valve stenosis, Arrhythmia, Tricuspid regurgitation, Pulmonic stenosis |
ORPHA:228410 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia |
ORPHA:29822 |
Heart-Hand Syndrome Type 2 |
|
Arrhythmia |
ORPHA:1350 |
Von Hippel-Lindau Syndrome |
|
Hypertension, Pancreatic cysts, Polycythemia, Neoplasm of the pancreas, Abnormality of the liver |
OMIM:193300 |
Muscular Dystrophy, Duchenne Type |
|
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EKG, Arrhythmia |
OMIM:310200 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Elevated hepatic transaminase, Neutropenia, Arrhythmia, Hypertrophic cardiomyopathy |
OMIM:615471 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Subchorionic septal cyst, Premature birth, Hepatoblastoma, Polyhydramnios, Splenome... |
ORPHA:116 |
Von Hippel-Lindau Disease |
|
Myocarditis, Hypertension, Pancreatic cysts, Polycythemia, Palpitations, Neoplasm of the pancreas... |
ORPHA:892 |
Fabry Disease |
|
Hypertension, Anemia, Myocardial infarction, Transient ischemic attack, Congestive heart failure,... |
OMIM:301500 |
Familial Multiple Nevi Flammei |
|
Intracranial hemorrhage, Arrhythmia, Pulmonary embolism |
ORPHA:624 |
Neuroleptic Malignant Syndrome |
|
Leukocytosis, Thrombocytosis, Hypertension, Hypertensive crisis, Tachycardia, Bradycardia, Pulmon... |
ORPHA:94093 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Arrhythmia |
ORPHA:352447 |
Scorpion Envenomation |
|
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Cardiac conductio... |
ORPHA:466677 |
Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Cerebral ischemia, Vasculitis, Hepatic failure, Sudden cardiac death, Ar... |
ORPHA:397 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Intrauterine growth retardation, Premature birth, Spontaneous abortion, Hepatoblast... |
ORPHA:96334 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Bradycardia, Arrhythmia |
OMIM:609286 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular arrhythmia, Atrial fibrillation, P... |
ORPHA:254892 |
Refsum Disease, Classic |
|
Cardiomyopathy, Arrhythmia, Congestive heart failure |
OMIM:266500 |
Kearns-Sayre Syndrome |
|
Cardiomyopathy, Third degree atrioventricular block, Arrhythmia, Sideroblastic anemia |
OMIM:530000 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Abnormal atrioventricular co... |
ORPHA:216694 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Hypertension, Left anterior fascicular block, Abnormal left ventricular function, Arrhythmia, Hea... |
ORPHA:437572 |
Agel Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy, Abnormal spleen morphology,... |
ORPHA:85448 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hemolytic anemia, Arrhythmia |
ORPHA:57 |
Genetic Recurrent Myoglobinuria |
|
Elevated hepatic transaminase, Arrhythmia |
ORPHA:99845 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated hepatic transaminase, Abnormal EKG, Prolonged QT interval, Arrhythmia |
ORPHA:480864 |
Ataxia With Vitamin E Deficiency |
|
Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:96 |
Ebstein Malformation Of The Tricuspid Valve |
|
Atrial fibrillation, Cerebral ischemia, Congestive heart failure, Right bundle branch block, Sudd... |
ORPHA:1880 |
Chromosome 2Q37 Deletion Syndrome |
|
Arrhythmia |
OMIM:600430 |
Pulmonary Hypertension, Primary, 4 |
|
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary vascular... |
OMIM:615344 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Cardiac arrest, Arrhythmia |
ORPHA:168593 |
Noonan Syndrome 5 |
|
Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis |
OMIM:611553 |
Granulomatosis With Polyangiitis |
|
Hypertension, Pericarditis, Epistaxis, Pancreatitis, Recurrent intrapulmonary hemorrhage, Cerebra... |
ORPHA:900 |
Danon Disease |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Wolff-Parkinson-White syndrome, Arrhythmia |
OMIM:300257 |
Lyme Disease |
|
Atrioventricular block, Arrhythmia |
ORPHA:91546 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Arrhythmia, Splenomegaly |
ORPHA:163746 |
Rheumatic Fever |
|
Myocarditis, Epistaxis, Pericarditis, Arrhythmia |
ORPHA:3099 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy, Hypertension, Intrauterine growth retardation, Umbilical hernia, Arr... |
OMIM:614052 |
Craniofaciofrontodigital Syndrome |
|
Mitral regurgitation, Pulmonary arterial hypertension, Gastrointestinal hemorrhage, Congestive he... |
ORPHA:363705 |
Kawasaki Disease |
|
Myocarditis, Leukocytosis, Pericarditis, Hepatitis, Vasculitis, Congestive heart failure, Cholecy... |
ORPHA:2331 |
Cardiac Diverticulum |
|
Premature ventricular contraction, Syncope, Tricuspid stenosis, Palpitations, Ventricular tachyca... |
ORPHA:1686 |
Carney Triad |
|
Hypertension, Anemia, Tachycardia, Gastrointestinal hemorrhage, Arrhythmia |
ORPHA:139411 |
Juvenile Polyposis Syndrome |
|
Epistaxis, Anemia, Spontaneous, recurrent epistaxis, Neoplasm of the pancreas, Extrahepatic porta... |
ORPHA:2929 |
Familial Mediterranean Fever |
|
Pericarditis, Peritonitis, Pancreatitis, Splenomegaly, Myocardial infarction, Acute hepatic failu... |
ORPHA:342 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Arrhythmia, Cerebral ischemia |
ORPHA:60040 |
Colchicine Poisoning |
|
Myocarditis, Leukocytosis, Cardiogenic shock, Congestive heart failure, Hypovolemia, Arrhythmia, ... |
ORPHA:31824 |
Pagod Syndrome |
|
Meningocele, Abnormality of the spleen, Spina bifida, Sudden cardiac death, Arrhythmia |
ORPHA:991 |
Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
Juvenile Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Cardiomyopathy, Bundle branch block, Gastrointestinal h... |
ORPHA:93672 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Arrhythmia |
ORPHA:3201 |
Noonan Syndrome |
|
Abnormal bleeding, Abnormality of the spleen, Hepatomegaly, Arrhythmia |
ORPHA:648 |
Noonan Syndrome With Multiple Lentigines |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Bundle branch block, Pulmonic steno... |
ORPHA:500 |
Ogden Syndrome |
|
Premature ventricular contraction, Ventricular tachycardia, Supraventricular tachycardia, Torsade... |
OMIM:300855 |
Familial Isolated Hypoparathyroidism |
|
Arrhythmia |
ORPHA:2238 |
Ogden Syndrome |
|
Arrhythmia, Cardiogenic shock |
ORPHA:276432 |
16P11.2P12.2 Microdeletion Syndrome |
|
Intrauterine growth retardation, Arrhythmia, Tricuspid regurgitation |
ORPHA:261211 |
Hec Syndrome |
|
Arrhythmia, Cardiomyopathy |
ORPHA:2119 |
Ivic Syndrome |
|
Leukocytosis, Arrhythmia, Thrombocytopenia |
ORPHA:2307 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Arrhythmia |
OMIM:273400 |
Hyperkalemic Periodic Paralysis |
|
Arrhythmia, Congestive heart failure |
ORPHA:682 |
Cockayne Syndrome A |
|
Hepatomegaly, Hypertension, Intrauterine growth retardation, Splenomegaly, Arrhythmia |
OMIM:216400 |
Schinzel-Giedion Syndrome |
|
Large earlobe, Infantile sensorineural hearing impairment, Aganglionic megacolon, Abnormality of ... |
ORPHA:798 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Hypertension, Umbilical hernia, Cardiomyopathy, Splenomegaly, Arrhythmia |
ORPHA:580 |
Fabry Disease |
|
Hypertrophic cardiomyopathy, Hypertension, Mitral regurgitation, Atrioventricular block, Conjunct... |
ORPHA:324 |
Hydrops Fetalis |
|
Arrhythmia, Capillary leak |
ORPHA:1041 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Intrauterine growth retardation, Arrhythmia |
OMIM:619184 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Hypertension, Umbilical hernia, Cardiomyopathy, Splenomegaly, Hepatosplenomegaly, Arrhythmia, Hea... |
ORPHA:217085 |
Cockayne Syndrome B |
|
Hepatomegaly, Hypertension, Intrauterine growth retardation, Splenomegaly, Arrhythmia |
OMIM:133540 |
Hennekam-Beemer Syndrome |
|
Mastocytosis, Arrhythmia, Telangiectasia of the skin, Hypotension |
ORPHA:2135 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Hypertension, Umbilical hernia, Cardiomyopathy, Splenomegaly, Hepatosplenomegaly, Arrhythmia, Hea... |
ORPHA:217093 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Microcytic anemia, Congestive heart failure, Elevated hepatic transam... |
OMIM:256040 |
Norrie Disease |
|
Optic atrophy, Macrotia, Sensorineural hearing impairment, Protruding ear, Abnormal helix morphol... |
ORPHA:649 |
Plague |
|
Hepatomegaly, Tachycardia, Splenomegaly, Abnormal bleeding, Hematemesis, Arrhythmia, Hypotension |
ORPHA:707 |
Botulism |
|
Arrhythmia |
ORPHA:1267 |
Foodborne Botulism |
|
Arrhythmia |
ORPHA:228371 |
Mgat2-Cdg |
|
Reflex asystolic syncope, Impaired lymphocyte transformation with phytohemagglutinin, Abnormal bl... |
ORPHA:79329 |
Holoprosencephaly |
|
Branchial anomaly, Abnormality of the spleen, Spinal dysraphism, Arrhythmia |
ORPHA:2162 |
Tuberous Sclerosis Complex |
|
Hypertension, Hepatic cysts, Internal hemorrhage |
ORPHA:805 |
Leber Optic Atrophy |
|
Arrhythmia |
OMIM:535000 |
African Trypanosomiasis |
|
Myocarditis, Hepatomegaly, Third degree atrioventricular block, Pericarditis, Splenomegaly, Secon... |
ORPHA:3385 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Arrhythmia |
ORPHA:2878 |
Localized Scleroderma |
|
Vasculitis, Arrhythmia, Raynaud phenomenon |
ORPHA:90289 |
Superficial Siderosis |
|
Abnormal bleeding, Internal hemorrhage, Persistent bleeding after trauma, Subarachnoid hemorrhage |
ORPHA:247245 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Arrhythmia |
OMIM:171480 |
Oculodentodigital Dysplasia |
|
Arrhythmia, Umbilical hernia |
ORPHA:2710 |
Dermatomyositis |
|
Myocarditis, Pericarditis, Pulmonary arterial hypertension, Telangiectasia of the skin, Myocardia... |
ORPHA:221 |
Kleefstra Syndrome |
|
Arrhythmia |
ORPHA:261494 |
Lymphedema-Distichiasis Syndrome |
|
Arrhythmia |
ORPHA:33001 |
Lymphedema-Distichiasis Syndrome |
|
Arrhythmia |
OMIM:153400 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Arrhythmia |
ORPHA:3220 |
Alternating Hemiplegia Of Childhood |
|
Cardiomyopathy, Abnormal T-wave, Arrhythmia, Cardiac conduction abnormality |
ORPHA:2131 |
Kniest-Like Dysplasia, Lethal |
|
Arrhythmia |
OMIM:245190 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Cardiomyopathy, Pulmonary arterial hypertension, Arrhythmia, Reduced ejection fraction |
ORPHA:258 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Arrhythmia |
OMIM:106300 |
Schwartz-Jampel Syndrome |
|
Pulmonary arterial hypertension, Arrhythmia, Umbilical hernia |
ORPHA:800 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Arrhythmia, Hypotension |
ORPHA:428 |
Pmm2-Cdg |
|
Hypertrophic cardiomyopathy, Intracranial hemorrhage, Pericarditis, Hepatic fibrosis, Abnormal li... |
ORPHA:79318 |
Amoebiasis Due To Free-Living Amoebae |
|
Increased red blood cell count, Arrhythmia |
ORPHA:68 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hepatoblastoma, Cardiomyopathy, Splenomegaly, Pancreatic islet-cell hyperplasia, Pu... |
OMIM:312870 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Atrioventricular block, Arrhythmia |
ORPHA:93317 |
Ulnar-Mammary Syndrome |
|
Arrhythmia |
ORPHA:3138 |
Oculodentodigital Dysplasia |
|
Arrhythmia |
OMIM:164200 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Arrhythmia, Histiocytoid cardiomyopathy |
OMIM:309801 |
Specc1L-Related Hypertelorism Syndrome |
|
Arrhythmia, Umbilical hernia |
ORPHA:1519 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Tricuspid regurgitatio... |
ORPHA:2556 |
Vascular Ehlers-Danlos Syndrome |
|
Hypertension, Renovascular hypertension, Telangiectasia of the skin, Transient ischemic attack, A... |
ORPHA:286 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia |
OMIM:250220 |
Costello Syndrome |
|
Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis |
OMIM:218040 |
Rubinstein-Taybi Syndrome 1 |
|
Leukemia, Spina bifida occulta, Arrhythmia |
OMIM:180849 |
Hypermobile Ehlers-Danlos Syndrome |
|
Arrhythmia, Umbilical hernia |
ORPHA:285 |
Ulnar-Mammary Syndrome |
|
Arrhythmia |
OMIM:181450 |
Stickler Syndrome |
|
Arrhythmia |
ORPHA:828 |