Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
Trimethylaminuria |
|
Anemia, Trimethylaminuria, Hypertension, Tachycardia, Depression, Neutropenia, Splenomegaly |
OMIM:602079 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Bradycardia, Hyperactivity, Attention deficit hyperactivity disorder, Sick sinus syndrome |
OMIM:617182 |
Atrial Standstill |
|
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... |
ORPHA:1344 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome, Arrhythmia |
OMIM:617173 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... |
OMIM:616249 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Ventricular escape rhythm, Mitral regurgitation, Atrial flutter, Bradycardia, ... |
OMIM:616201 |
Cln3 Disease |
|
Aggressive behavior, Urinary bladder sphincter dysfunction, Anxiety, T-wave inversion, Left ventr... |
ORPHA:228346 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Left ventricular hypertrophy, Congestive heart failure, Hepatic steatosis, Increased urine succin... |
OMIM:619048 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Aminoacylase 1 Deficiency |
|
Hyperactivity, Bradycardia |
OMIM:609924 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
Coproporphyria, Hereditary |
|
Anxiety, Jaundice, Hypertension, Tachycardia, Hepatomegaly, Depression, Increased urinary porphob... |
OMIM:121300 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... |
OMIM:601419 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Cardiac arrest, Dicarboxylic aciduria, Hepatic steatosis, Premature ventricular cont... |
OMIM:212138 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... |
OMIM:614022 |
Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia, Dysphagia |
OMIM:616276 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypospadias, Bradycardia, Micropenis |
OMIM:618815 |
Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... |
OMIM:600858 |
Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation |
OMIM:613087 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Nephrotic syndrome, Abnormal EKG, Congestiv... |
ORPHA:330001 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Left ventricular hypertrophy, ... |
OMIM:163800 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... |
OMIM:617222 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Alaninuria, Lacticaciduria, Bradycardia, Hyperglutaminuria |
OMIM:616299 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... |
OMIM:115200 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... |
OMIM:619464 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Bradycardia, Atrial fibrillation |
OMIM:614302 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Depression, Arrhythmia, Dysphagia, Bradycardia, Cardiomyopathy |
OMIM:609286 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... |
OMIM:612240 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety |
OMIM:619031 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... |
OMIM:140400 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C... |
OMIM:601494 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, T-wave inversion, Ventricular arrhythmia, Cardiogenic shock, Mildly reduced left ven... |
ORPHA:66529 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... |
OMIM:618447 |
Hartnup Disorder |
|
Emotional lability, Neutral hyperaminoaciduria, Attention deficit hyperactivity disorder, Hyperac... |
OMIM:234500 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... |
OMIM:608567 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... |
OMIM:604772 |
Glycine Encephalopathy |
|
Hyperactivity, Aggressive behavior, Impulsivity, Irritability, Restlessness, Hyperglycinuria |
OMIM:605899 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia |
OMIM:600919 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Bradycardia |
OMIM:614654 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Separation insecurity, Agoraphobia, Emotional lability, I... |
ORPHA:66624 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, T-wave inversion, Enlarged kidney, ST segment depression, Congestive heart failure, ... |
OMIM:261740 |
Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... |
ORPHA:45453 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Timothy Syndrome |
|
Cardiomegaly, Prolonged QT interval, Bradycardia |
OMIM:601005 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Bradycardia |
OMIM:614702 |
Tetanus |
|
Elevated urinary epinephrine, Hypertension, Dysphagia, Elevated urinary norepinephrine, Bradycard... |
ORPHA:3299 |
Idiopathic Congenital Hypothyroidism |
|
Prolonged neonatal jaundice, Bradycardia |
ORPHA:95717 |
Cardiomyopathy, Dilated, 2G |
|
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... |
OMIM:619897 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... |
OMIM:614021 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Irritability, Increased level of hippuric acid in urine, Atte... |
OMIM:261600 |
Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Depression, Anxiety, Bradycardia, Oral-pharyngeal dysphagia |
ORPHA:221098 |
Gaucher Disease Type 2 |
|
Cardiac arrest, Splenomegaly, Hepatomegaly, Dysphagia |
ORPHA:77260 |
Atrial Standstill 2 |
|
Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia, Absent P wave, Bradyca... |
OMIM:615745 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, Sick sinus syndrome |
ORPHA:542306 |
Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Cardiac arrest, Bradycardia, Tachycardia |
ORPHA:70587 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Ascites, Hepatomegaly, Abnormal renal corticomedullary differentiation, Thro... |
OMIM:617397 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Abnormal renal... |
ORPHA:439232 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Atrioventricular block |
OMIM:614407 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatic steatosis, Tachycardia, Prolonged QT interval, Hepatomegaly, Dysphagia, Bradycardia, Sple... |
OMIM:613327 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hematuria, Hypertension, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria,... |
OMIM:105200 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Bradycardia |
OMIM:610015 |
Sepsis In Premature Infants |
|
Hypotension, Anemia, Jaundice, Tachycardia, Oliguria, Hepatomegaly, Leukocytosis, Reversible rena... |
ORPHA:90051 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Abnormal left ventricular function, Subdural hemorrhage, Hepatomegal... |
ORPHA:99827 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... |
OMIM:613838 |
Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Dilated cardiomyopathy, Congestive heart failure, Hepatomegaly, Arrhythmia, Splenomega... |
OMIM:602390 |
Neuroleptic Malignant Syndrome |
|
Hypotension, Urinary incontinence, Pulmonary embolism, Anxiety, Acute kidney injury, Hypertension... |
ORPHA:94093 |
Lujo Hemorrhagic Fever |
|
Hypotension, Leukopenia, Myocarditis, Renal insufficiency, Fulminant hepatitis, Anxiety, Lymphope... |
ORPHA:319213 |
Babesiosis |
|
Leukopenia, Renal insufficiency, Hemolytic anemia, Jaundice, Congestive heart failure, Myocardial... |
ORPHA:108 |
Necrotizing Enterocolitis |
|
Hypotension, Peritonitis, Shock, Leukocytosis, Ascites, Thrombocytopenia, Neutropenia, Bradycardia |
ORPHA:391673 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... |
OMIM:615285 |
Acitretin/Etretinate Embryopathy |
|
Bradycardia, Third degree atrioventricular block, Hypoplasia of the thymus |
ORPHA:40366 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Hyperactivity, Aggressive behavior, Self-injurious behavior, Self-biting,... |
OMIM:619827 |
Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Myeloproliferative disorder, Hepatomegaly, Eosinophilia, Splenomegaly |
OMIM:607685 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Abnormal aggressive, ... |
ORPHA:3077 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Prolonged neonatal jaundice, Bradycardia |
ORPHA:226313 |
Familial Thyroid Dyshormonogenesis |
|
Prolonged neonatal jaundice, Bradycardia |
ORPHA:95716 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Cirrhosis, Anemia, Congestive heart failure, Hepatomegaly, Splenomegaly, Cardio... |
OMIM:613313 |
Tyrosinemia Type 1 |
|
Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly |
ORPHA:882 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Hypospadias, Bradycardia |
OMIM:619272 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... |
OMIM:612098 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Hypertrophic cardiomyopathy, Thrombocytopenia, Bradycardia, Choleli... |
OMIM:618775 |
Mu-Heavy Chain Disease |
|
Anemia, Abnormal B cell count, Lymphadenopathy, Nephropathy, Hepatomegaly, Bence Jones Proteinuri... |
ORPHA:100024 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Sp... |
OMIM:252920 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia, Partial development of the penile shaft |
OMIM:608800 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Sinus tachycardia, Neutropenia in presence of anti-neutropil antibodies, Jaundice,... |
ORPHA:525731 |
D-Glyceric Aciduria |
|
Aminoaciduria, Bradycardia, Micropenis |
OMIM:220120 |
Neonatal Lupus Erythematosus |
|
Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Dilated cardiomyopathy, Pancytop... |
ORPHA:398124 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Autoimmune hemolytic anemia, Abnormal urinary color, Tachycardia, Splen... |
ORPHA:90037 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... |
OMIM:133180 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... |
OMIM:614954 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Aggressive behavior, Facial telangiectasia, Impulsivity, Attention deficit hyperac... |
OMIM:620141 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Premature atrial contractions, Heart block, Supraventricular tach... |
ORPHA:216694 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... |
ORPHA:75564 |
Autoimmune Hemolytic Anemia |
|
Hemolytic anemia, Congestive heart failure, Abnormal urinary color, Arrhythmia, Abnormal leukocyt... |
ORPHA:98375 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... |
OMIM:237800 |
Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
Beta-Thalassemia |
|
Anemia, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelithiasis, Thrombocytopenia, I... |
ORPHA:848 |
Polycythemia Vera |
|
Increased red blood cell mass, Cerebral hemorrhage, Cerebral ischemia, Increased hematocrit, Thro... |
OMIM:263300 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Bradycardia, Prolonged neonatal jaundice, Attention deficit hyperactivity disorder, Depression |
ORPHA:90674 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Congestive heart failure, Abnormal abdomen morphology, Polyphagia, Irritability |
OMIM:275000 |
Mcleod Syndrome |
|
Splenomegaly, Anxiety, Dilated cardiomyopathy, Hepatomegaly, Depression, Personality disorder, At... |
OMIM:300842 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly |
OMIM:610293 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Renal insufficiency, Pe... |
OMIM:263200 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Aggressive behavior, Impulsivity, Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation |
OMIM:261990 |
Nephronophthisis 19 |
|
Hepatic fibrosis, Stage 5 chronic kidney disease, Malformation of the hepatic ductal plate, Bile ... |
OMIM:616217 |
Acquired Methemoglobinemia |
|
Anxiety, Syncope, Palpitations, Arrhythmia, Methemoglobinemia, Tachycardia |
ORPHA:464453 |
Marburg Hemorrhagic Fever |
|
Hypotension, Leukopenia, Aggressive behavior, Renal insufficiency, Hypovolemia, Jaundice, Reticul... |
ORPHA:99826 |
Peripartum Cardiomyopathy |
|
Pulmonary arterial hypertension, Abnormal T-wave, Anemia, Reduced left ventricular ejection fract... |
ORPHA:563 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio... |
ORPHA:75565 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia |
OMIM:616812 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Jaundice, Congestive heart failure, Autoimmune hemolytic anemia, Abno... |
ORPHA:90033 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Bradycardia |
ORPHA:565624 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Nephrotic syndrome, Coombs-positiv... |
OMIM:603909 |
Mast Cell Sarcoma |
|
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
Alpha-Thalassemia |
|
Anemia, Splenomegaly, Hemolytic anemia, Hypersplenism, Jaundice, Abnormal hemoglobin, Cholelithia... |
ORPHA:846 |
Hemochromatosis, Type 1 |
|
Cirrhosis, Telangiectasia, Hepatocellular carcinoma, Congestive heart failure, Hepatomegaly, Arrh... |
OMIM:235200 |
Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly, Tricuspid regurgitation |
OMIM:616589 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Splenomegaly, Hepatomegaly |
OMIM:617068 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Cerebral hemorrhage, Increased hematocrit, Hypertension, Myocardia... |
OMIM:133100 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Splenomegaly, Congestive heart failure, Hepatomegaly, Ascites, P... |
ORPHA:2414 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Epistaxis, Leukocytosis, Extramedulla... |
OMIM:612840 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Biliary cirrhosis, Malformation of the hepatic ductal plate, Hepatomegaly, Hyperechogen... |
OMIM:208540 |
Encephalitis Lethargica |
|
Urinary incontinence, Bradycardia |
ORPHA:83600 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Cardiac arrest, Syncope, Epsilon wave, Pr... |
OMIM:609040 |
3-Methylglutaconic Aciduria, Type Viii |
|
3-Methylglutaconic aciduria, Neonatal death, Jaundice, Dysphagia, 3-Methylglutaric aciduria, Neut... |
OMIM:617248 |
Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Systolic heart murmur, Cardiomegaly, Abnormal EKG, Elevated jugu... |
ORPHA:2041 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
Proximal Spinal Muscular Atrophy |
|
Bradycardia, Dysphagia |
ORPHA:70 |
Congenital Disorder Of Glycosylation, Type Im |
|
Bradycardia, Dilated cardiomyopathy |
OMIM:610768 |
Yellow Fever |
|
Anuria, Renal insufficiency, Pancreatic hyperplasia, Reduced left ventricular ejection fraction, ... |
ORPHA:99829 |
Sheehan Syndrome |
|
Hyposthenuria, Palpitations, Orthostatic hypotension, Bradycardia, Normochromic anemia |
ORPHA:91355 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... |
ORPHA:64743 |
Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity, Asymmetric septal hypertrophy, Hepatomegaly, Splenomegaly, Heparan sulfate excreti... |
OMIM:252900 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Epistaxis, Increased RBC distribution width, Thr... |
OMIM:314050 |
Autoimmune Hepatitis |
|
Spider hemangioma, Cirrhosis, Fulminant hepatitis, Anxiety, Sclerosing cholangitis, Diffuse hepat... |
ORPHA:2137 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Jaundice, Portal fibrosis, Hepatomegaly, Iron deficiency anemia, Portal hyperte... |
OMIM:616278 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Congestive heart failure, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Bohring-Opitz Syndrome |
|
Urinary retention, Happy demeanor, Annular pancreas, Cardiomegaly, Bradycardia, Cholelithiasis |
ORPHA:97297 |
Portal Hypertension, Noncirrhotic, 2 |
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Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Epistaxis, Thrombocytopenia,... |
OMIM:619463 |
Fish-Eye Disease |
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Lymphadenopathy, Angina pectoris, Splenomegaly, Hepatomegaly |
ORPHA:79292 |
American Trypanosomiasis |
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Congestive heart failure, Lymphadenopathy, Hepatomegaly, Arrhythmia, Myocarditis, Splenomegaly, C... |
ORPHA:3386 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Cirrhosis, Anemia, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Legionnaires Disease |
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Hypotension, Hepatitis, Jaundice, Pancreatitis, Hematuria, Lymphopenia, Pericarditis, Lymphadenop... |
ORPHA:549 |
Porphyria, Acute Intermittent |
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Urinary incontinence, Urinary retention, Dysuria, Hepatocellular carcinoma, Hypertension, Depress... |
OMIM:176000 |
Sclerosing Cholangitis, Neonatal |
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Vesicoureteral reflux, Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Acholic st... |
OMIM:617394 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
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Retinal hemorrhage, Bradycardia, Hypertension, Tachycardia |
OMIM:614653 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
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Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... |
OMIM:619849 |
Complete Atrioventricular Septal Defect |
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Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Cardiomegal... |
ORPHA:1329 |
Beta-Thalassemia Intermedia |
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Cholelithiasis, Pulmonary arterial hypertension, Cirrhosis, Proximal tubulopathy, Abnormality of ... |
ORPHA:231222 |
Dominant Beta-Thalassemia |
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Hepatic fibrosis, Cirrhosis, Hypersplenism, Reduced hemoglobin A, Jaundice, Hepatocellular carcin... |
ORPHA:231226 |
Hypothyroidism Due To Tsh Receptor Mutations |
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Prolonged neonatal jaundice, Bradycardia |
ORPHA:90673 |
Stiff-Person Syndrome |
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Anemia, Hypertension, Depression, Anxiety, Agoraphobia, Tachycardia |
OMIM:184850 |
Mucopolysaccharidosis, Type Iiic |
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Hyperactivity, Asymmetric septal hypertrophy, Hepatomegaly, Dysphagia, Splenomegaly, Heparan sulf... |
OMIM:252930 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
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Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Sickle Cell Disease |
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Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Jaundice, Splenic infarction, Hemat... |
OMIM:603903 |
Hemoglobin E Disease |
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Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Anemia, Multicystic kidney dysplasia, Urinary retention, Dysuria, Hydroureter, Renal tubular epit... |
ORPHA:79404 |
Anemia, Congenital Dyserythropoietic, Type Ii |
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Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
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Hyperactivity, Self-biting, Polyuria, Renal magnesium wasting, Nephrocalcinosis, Renal potassium ... |
OMIM:618314 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
Beta-Thalassemia Major |
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Hepatic fibrosis, Cirrhosis, Hypersplenism, Anisopoikilocytosis, Reduced hemoglobin A, Hepatocell... |
ORPHA:231214 |
Gaucher Disease, Type I |
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Pulmonary arterial hypertension, Anemia, Hypersplenism, Hypertension, Pancytopenia, Epistaxis, Mi... |
OMIM:230800 |
Fructose-1,6-Bisphosphatase Deficiency |
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Irritability, Tachycardia, Hepatomegaly, Increased urinary glycerol |
OMIM:229700 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
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Sinus bradycardia |
OMIM:126320 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Hyperactivity, Aggressive behavior, Self-injurious behavior, Hypertension, Attention deficit hype... |
ORPHA:449291 |
Kaposiform Lymphangiomatosis |
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Pancreatic cysts, Anemia, Epidural hemorrhage, Enlarged kidney, Abnormal spleen morphology, Abnor... |
ORPHA:464329 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Hypotension, Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphati... |
ORPHA:98849 |
Dehydrated Hereditary Stomatocytosis 2 |
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Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Anisopoikilocyto... |
OMIM:616689 |
Glycogen Storage Disease Ii |
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Urinary incontinence, Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome, Sh... |
OMIM:232300 |
Histiocytoid Cardiomyopathy |
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Supraventricular tachycardia, Right bundle branch block, Wolff-Parkinson-White syndrome, Congesti... |
ORPHA:137675 |
Polycythemia Vera |
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Pulmonary embolism, Intermittent claudication, Angina pectoris, Hypertension, Epistaxis, Portal v... |
ORPHA:729 |
Gamma-Heavy Chain Disease |
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Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ... |
ORPHA:100026 |
Dehydrated Hereditary Stomatocytosis |
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Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... |
ORPHA:3202 |
Spherocytosis, Type 5 |
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Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
Bile Acid Synthesis Defect, Congenital, 3 |
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Cirrhosis, Hepatitis, Jaundice, Acholic stools, Hepatic bridging fibrosis, Intrahepatic cholestas... |
OMIM:613812 |
Caroli Disease |
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Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Periportal fibrosis, Liver abscess, Jaundice, Pol... |
ORPHA:53035 |
Budd-Chiari Syndrome |
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Cirrhosis, Jaundice, Cholecystitis, Hepatomegaly, Gastrointestinal hemorrhage, Portal hypertensio... |
ORPHA:131 |
Autosomal Recessive Polycystic Kidney Disease |
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Cholangiocarcinoma, Hepatoblastoma, Hepatosplenomegaly, Reduced renal corticomedullary differenti... |
ORPHA:731 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... |
OMIM:194380 |
Pyruvate Kinase Deficiency Of Red Cells |
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Jaundice, Erythroid hyperplasia, Reticulocytosis, Cholecystitis, Chronic hemolytic anemia, Decrea... |
OMIM:266200 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Splenomegaly, Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Nonspherocytic hemolyt... |
OMIM:235700 |
Short Qt Syndrome 3 |
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Shortened QT interval, Palpitations, Tachycardia |
OMIM:609622 |
Gaisböck Syndrome |
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Increased mean corpuscular hemoglobin concentration, Increased red blood cell count, Hypovolemia,... |
ORPHA:90041 |
Erythrocytosis, Familial, 8 |
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Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Rh Deficiency Syndrome |
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Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatosplenomegaly, Anisocytosis, Ma... |
ORPHA:71275 |
Glycogen Storage Disease Ib |
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Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Hypertension, Focal segmental glomerulos... |
OMIM:232220 |
Argininemia |
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Hyperactivity, Portal fibrosis, Oroticaciduria, Diaminoaciduria, Micronodular cirrhosis, Cholesta... |
OMIM:207800 |
Familial Mediterranean Fever |
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Splenomegaly, Nephrotic syndrome, Ascites, Pericarditis, Myocardial infarction, Lymphadenopathy, ... |
ORPHA:342 |
Combined Oxidative Phosphorylation Deficiency 39 |
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Sinus bradycardia |
OMIM:618397 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Heinz bodies, Hemoglobinuria, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poik... |
OMIM:300908 |
Tuberous Sclerosis Complex |
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Hyperactivity, Aggressive behavior, Self-injurious behavior, Renal angiomyolipoma, Stage 5 chroni... |
ORPHA:805 |
Overhydrated Hereditary Stomatocytosis |
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Intermittent jaundice, Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... |
ORPHA:3203 |
Carney Triad |
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Anemia, Hypertension, Lymphadenopathy, Mediastinal lymphadenopathy, Arrhythmia, Gastrointestinal ... |
ORPHA:139411 |
Tyrosinemia, Type I |
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Cirrhosis, Anemia, Enlarged kidney, Ascites, Hepatocellular carcinoma, Glomerular sclerosis, Hype... |
OMIM:276700 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Prolonged neonatal jaundice, Bradycardia |
ORPHA:226307 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
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Splenomegaly, Angina pectoris, Low-output congestive heart failure, Palpitations, Hepatomegaly, A... |
ORPHA:565612 |
Primary Sclerosing Cholangitis |
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Spider hemangioma, Cholangiocarcinoma, Hepatocellular carcinoma, Hepatosplenomegaly, Hepatomegaly... |
ORPHA:171 |
Spherocytosis, Type 1 |
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Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis |
OMIM:182900 |
Spherocytosis, Type 2 |
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Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
Overhydrated Hereditary Stomatocytosis |
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Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly |
OMIM:185000 |
Spherocytosis, Type 4 |
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Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Bradycardia, Pulmonary insufficiency |
OMIM:614437 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Bradycardia |
OMIM:218700 |
X-Linked Lymphoproliferative Disease |
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T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... |
ORPHA:2442 |
Paragangliomas 4 |
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Elevated urinary catecholamines, Hypertension associated with pheochromocytoma, Episodic paroxysm... |
OMIM:115310 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Urinary incontinence, Sinus bradycardia, Dysphagia |
OMIM:619482 |
Cryohydrocytosis |
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Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |