Gene Summary

Name:
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
Synonyms:
SUR2A,  SUR2B,  Sur2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased lymphocyte cell number Abcc9em1(IMPC)H HET Early adult 2.62×10-05
increased grip strength Abcc9em1(IMPC)H HET Early adult 2.89×10-05
increased neutrophil cell number Abcc9em1(IMPC)H HET Early adult 9.62×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Abcc9 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Abcc9 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Aortic aneur... OMIM:612422
Hypertension, Essential
Elevated systolic blood pressure, Elevated diastolic blood pressure, Elevated mean arterial pressure OMIM:145500
Brugada Syndrome 9
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation OMIM:616399
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Cardiomyopathy, Dilated, 1Nn
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... OMIM:615916
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Hypoalphalipoproteinemia, Primary, 1
Myocardial infarction, Premature coronary artery atherosclerosis OMIM:604091
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation OMIM:615378
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Premature coronary artery atherosclerosis, Hypertension OMIM:608320
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension ORPHA:3188
Short Stature Due To Ghsr Deficiency
Decreased body weight, Short stature, Abnormality of body weight, Delayed puberty, Hypoglycemia, ... ORPHA:314811
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Severe short stature, Hypoglycemia, Intrauterine growth retardation OMIM:223500
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congestive heart failure, Red... OMIM:604765
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal ST segment, Congestive heart failure, Arrhythmia ORPHA:1055
Brugada Syndrome 7
Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Growth delay, Short stature ORPHA:314802
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Cardiomyopathy, Dilated, 2G
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... OMIM:619897
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism, Peripheral arterial stenosis OMIM:134400
Cardiomyopathy, Familial Hypertrophic, 13
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... OMIM:613243
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Congenital Heart Defects, Multiple Types, 2
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Myxomatous mitral valve ... OMIM:614980
Tako-Tsubo Cardiomyopathy
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... ORPHA:66529
Ethanolaminosis
Cardiomegaly OMIM:227150
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia, Pituitary dwarfism, Severe postnatal growth retardation, Short stature OMIM:262700
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Dilation of Virchow-Robin spaces, Transient ischemic attack, Hypertension, Lacunar stroke, Stroke OMIM:616779
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Grange Syndrome
Aortic regurgitation, Arterial stenosis, Hypertension, Patent ductus arteriosus ORPHA:79094
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus, Common carotid artery aneurysm, Aortic... OMIM:613834
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Familial Aortic Dissection
Aortic root aneurysm, Patent ductus arteriosus, Cardiomegaly, Coronary artery atherosclerosis, De... ORPHA:229
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... ORPHA:75566
Glycogen Storage Disease Xv
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, ST segment eleva... OMIM:613507
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Aortic regurgitat... OMIM:607941
Aorto-Ventricular Tunnel
Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Heart murmur, Congesti... ORPHA:3400
Fixed Subaortic Stenosis
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... ORPHA:3092
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Myocardial infarction, Premature coronary artery atherosclerosis, Hypertension OMIM:610947
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Heart murmur, Bicuspid aortic valve, Abnormal left ventricular outflow trac... ORPHA:402075
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... OMIM:613424
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia OMIM:601820
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Aortic Aneurysm, Familial Thoracic 4
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... OMIM:132900
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Moyamoya Disease With Early-Onset Achalasia
Moyamoya phenomenon, Abnormal cerebral vascular morphology, Raynaud phenomenon, Hypertension, Stroke ORPHA:401945
Polycystic Kidney Disease 7
Hypertension OMIM:620056
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Pulmonary artery ... OMIM:185500
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Autosomal Dominant Coarctation Of Aorta
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... ORPHA:1455
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Cor... ORPHA:1330
Insulin Autoimmune Syndrome
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... ORPHA:411593
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Mitral valve prolapse, Short chordae tendineae of the tricuspid valve, Sho... OMIM:314400
Paragangliomas 6
Hypertension OMIM:618464
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... OMIM:163800
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Short stature ORPHA:366
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... ORPHA:45453
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Short stature, Postnatal growth retardation OMIM:616113
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Abdominal aortic aneurysm, Aortic arch aneurysm, Bicuspid aortic valve, Mit... OMIM:617168
Isolated Growth Hormone Deficiency, Type Ia
Severe short stature, Hypoglycemia, Growth delay OMIM:262400
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, In... OMIM:613370
Familial Cervical Artery Dissection
Cerebral ischemia, Transient ischemic attack, Arterial fibromuscular dysplasia, Hypertension, Str... ORPHA:36382
Nathalie Syndrome
Abnormal EKG OMIM:255990
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Congestive heart fail... OMIM:601493
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
Aortic Aneurysm, Familial Thoracic 6
Ascending tubular aorta aneurysm, Moyamoya phenomenon, Descending aortic dissection, Aortic aneur... OMIM:611788
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension, Increased muscle fatiguability OMIM:611489
Preeclampsia/Eclampsia 1
Hypertension OMIM:189800
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Atrial Fibrillation, Familial, 11
Prolonged QRS complex, Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Acquired Aneurysmal Subarachnoid Hemorrhage
Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syn... ORPHA:90065
Cardiac Valvular Dysplasia 2
Subvalvular aortic stenosis, Systolic heart murmur, Left ventricular diastolic dysfunction, Pulmo... OMIM:620067
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Ascending aortic dissection, Descending aortic dissection OMIM:613780
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Incre... OMIM:615396
Cardiogenic Shock
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... ORPHA:97292
Sneddon Syndrome
Hypertension, Intracranial hemorrhage, Arterial stenosis ORPHA:820
Congenitally Uncorrected Transposition Of The Great Arteries
Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricular hypert... ORPHA:860
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Hyperinsulinism Due To Glucokinase Deficiency
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Long Qt Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... OMIM:613688
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Left ve... OMIM:615373
Muscular Dystrophy, Becker Type
Cardiomyopathy, Arrhythmia, Abnormal EKG OMIM:300376
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta OMIM:241550
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Right bundle branch block, T-wave inversion, Ventricular tachycardia, Palpitations, Arrhythmia, S... ORPHA:263297
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Coronary artery atherosclerosis, Hypertension, Cerebral artery atherosclerosis, Arterial stenosis ORPHA:1192
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval OMIM:220400
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Arterial Calcification, Generalized, Of Infancy, 1
Carotid artery calcification, Abdominal aortic calcification, Hypertension, Congestive heart fail... OMIM:208000
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy, Postnatal growth retardation OMIM:232700
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Aortic regurgitation,... OMIM:616501
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Premature coronary artery atherosclerosis, Congestive heart failure, Hyper... OMIM:615703
Long Qt Syndrome 13
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... OMIM:613485
Aortic Valve Disease 2
Aortic tortuosity, Patent foramen ovale, Bicuspid aortic valve, Aortic aneurysm, Calcification of... OMIM:614823
Congenital Aortic Valve Stenosis
Sudden cardiac death, Abnormal T-wave, Aortic valve atresia, Increased QRS voltage, Endocarditis,... ORPHA:3093
Aorta Coarctation
Pulmonary arterial hypertension, Patent ductus arteriosus, Aortic valve atresia, Perimembranous v... ORPHA:1457
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... ORPHA:45452
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... OMIM:613642
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... OMIM:604400
Takayasu Arteritis
Pulmonary arterial hypertension, Ascending tubular aorta aneurysm, Vascular dilatation, Cerebral ... ORPHA:3287
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... OMIM:611528
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... OMIM:613980
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:1345
Tropical Endomyocardial Fibrosis
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Corona... ORPHA:75565
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Abnormal aortic morphology, Hypertension, Arrhythmia ORPHA:3222
Cardiomyopathy, Familial Hypertrophic, 27
Endocardial fibroelastosis, Impaired myocardial contractility, Left ventricular diastolic dysfunc... OMIM:618052
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... OMIM:612158
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... OMIM:611819
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia ORPHA:67046
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Iga Nephropathy, Susceptibility To, 2
Hypertension OMIM:613944
Hypokalemic Periodic Paralysis
Impaired myocardial contractility, Fatigable weakness of respiratory muscles, Exercise-induced mu... ORPHA:681
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, Mitral valve prolapse, Ascending aortic dissection, Thoracic aortic aneurysm, ... OMIM:616166
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Atrial Septal Defect, Ostium Secundum Type
Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati... ORPHA:99103
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Sick Sinus Syndrome 4
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... OMIM:619464
Long Qt Syndrome 6
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... OMIM:613693
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Dimethylglycine Dehydrogenase Deficiency
Increased muscle fatiguability ORPHA:243343
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Pulmonary Hypertension, Primary, 1
Pulmonary arterial hypertension, Telangiectasia, Pulmonary arterial medial hypertrophy, Arterial ... OMIM:178600
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Intermittent claudication, Myocardial infarction, Renovascular ... OMIM:135580
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Transient ischemic attack, Atherosclerosis, Intracranial hemorrhage, Hypert... ORPHA:231160
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Growth Hormone Insensitivity Syndrome
Short stature, Type II diabetes mellitus, Insulin resistance, Diabetes mellitus, Hypoglycemia, Fa... ORPHA:181393
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Wolff-Parkinson-White Syndrome
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... OMIM:194200
Coronary Arterial Fistula
Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitations, Patent ... ORPHA:2041
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Erythrocyte Lactate Transporter Defect
Exercise-induced muscle fatigue OMIM:245340
Atrial Fibrillation, Familial, 3
Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... OMIM:607554
Long Qt Syndrome 14
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... OMIM:616247
Long Qt Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... OMIM:192500
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Vascular dilatation, Ventricular arrhythmia, Congestive heart ... OMIM:600884
Left Ventricular Noncompaction 1
Sudden cardiac death, Patent ductus arteriosus, Ventricular septal defect, Ventricular arrhythmia... OMIM:604169
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis OMIM:607016
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Renal Failure, Progressive, With Hypertension
Hypertension OMIM:161900
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Obesity, Growth delay, Short stature ORPHA:171706
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Mitral valve prolapse, Mitral regurgitation OMIM:225320
Arterial Calcification, Generalized, Of Infancy, 2
Arterial calcification, Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogeni... OMIM:614473
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... ORPHA:217607
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... OMIM:611875
Familial Atrial Myxoma
Vascular dilatation, Bacterial endocarditis, Heart murmur, Pulmonic valve myxoma, Congestive hear... ORPHA:615
Aortic Arch Interruption
Systolic heart murmur, Left ventricular outflow tract obstruction, Truncus arteriosus, Aortopulmo... ORPHA:2299
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Small for gestational age, Mate... ORPHA:324575
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Mucoid extracellular matrix accumulation, Ascending aortic dissection, Abnormal ... ORPHA:91387
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Car... OMIM:609040
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, T-wave inversion, ST segment depression, Congestive heart failure, Left axis deviati... OMIM:261740
Liddle Syndrome
Hypertension, Cerebral ischemia, Arrhythmia ORPHA:526
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... OMIM:618654
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus, Severe failure to thrive, Intrauterine growt... OMIM:601410
Moyamoya Disease 6 With Or Without Achalasia
Hypertension, Raynaud phenomenon, Ischemic stroke, Moyamoya phenomenon OMIM:615750
Periventricular Nodular Heterotopia
Aortic regurgitation, Abnormal heart valve morphology ORPHA:98892
Atrial Standstill
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... ORPHA:1344
Moyamoya Disease 1
Carotid artery occlusion, Telangiectasia, Inflammatory arteriopathy OMIM:252350
Cardiomyopathy, Dilated, 1U
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Conge... OMIM:613694
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Hypertension, Arrhythmia OMIM:617021
Familial Partial Lipodystrophy, Köbberling Type
Coronary artery atherosclerosis, Hypertension ORPHA:79084
Specific Granule Deficiency 1
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Absent neutrophil lac... OMIM:245480
Liddle Syndrome 3
Hypertension OMIM:618126
Dimethylglycine Dehydrogenase Deficiency
Increased muscle fatiguability OMIM:605850
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic regurgitation, Aortic valve stenosis, Aortic valve calcification OMIM:114065
Congenital Tricuspid Stenosis
Pulmonary arterial hypertension, Hypotension, Bacterial endocarditis, Heart murmur, Congestive he... ORPHA:95459
Immunodeficiency 110 With Lymphoproliferation
Neutropenia, Lymphopenia OMIM:614868
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Tricuspid Atresia
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... ORPHA:1209
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hypertrophic cardiomyopathy, Palpitations, Abnormal heart morphology, Increased muscle fatiguability OMIM:618250
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... OMIM:600858
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Cardiomyopathy, Familial Hypertrophic, 8
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... OMIM:608751
Coenzyme Q10 Deficiency, Primary, 2
Pulmonary arterial hypertension, Aortic regurgitation, Mitral regurgitation OMIM:614651
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... OMIM:615441
Aortic Valve Disease 3
Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... OMIM:115197
Adenosine Monophosphate Deaminase Deficiency
Exercise-induced muscle fatigue ORPHA:45
Extracranial Carotid Artery Aneurysm
Cerebral ischemia, Atherosclerosis, Vasculitis, Arterial fibromuscular dysplasia, Hypertension, T... ORPHA:494424
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Peripheral arterial stenosis, Varicose veins, Sinus bradycardia OMIM:126320
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... OMIM:612347
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Large for gestational age, Neonatal hypoglycem... ORPHA:293964
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Hypertension, Congestive heart failure, Abnormal left ventricular... OMIM:540000
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Transient ischemic attack, Intracranial ... ORPHA:136
Lessel-Kubisch Syndrome
Hypertension OMIM:618681
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia ORPHA:871
Mucolipidosis Iii Gamma
Aortic regurgitation, Aortic valve stenosis OMIM:252605
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Dilatation of the cerebral artery, Hypertension OMIM:600666
Developmental And Epileptic Encephalopathy 18
Aortic regurgitation, Atrial septal defect OMIM:615476
Abdominal Obesity-Metabolic Syndrome 4
Coronary artery atherosclerosis, Myocardial infarction, Hypertension, Accelerated atherosclerosis OMIM:618620
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr... OMIM:615897
Polycystic Kidney Disease 5
Hypertension OMIM:617610
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Cardiomegaly, Reduced left ventricular ejection fraction, Abnormal EK... ORPHA:85451
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Premature atr... ORPHA:216694
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension OMIM:605115
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Short stature, Diabetic ketoacidosis, Small for gestational age, Hypoglycemia, ... OMIM:262190
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hypertension ORPHA:401923
Aortic Aneurysm, Familial Thoracic 12
Aortic root aneurysm, Ascending tubular aorta aneurysm, Bicuspid aortic valve, Ascending aortic d... OMIM:619825
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Hypotension OMIM:156310
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia OMIM:610090
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... OMIM:620066
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Decreased body weight, Short stature, Small for gestational age, Neonatal hypoglycemia, Hypoglyce... ORPHA:231140
Lipodystrophy, Familial Partial, Type 1
Prominent superficial veins, Hypertension, Coronary artery atherosclerosis OMIM:608600
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Patent ductus arteriosus, Patent foramen ovale, Right ventric... ORPHA:99094
Acquired Von Willebrand Syndrome
Hypotension, Intracranial hemorrhage, Epistaxis, Aortic regurgitation, Melena, Mitral regurgitati... ORPHA:99147
Focal Segmental Glomerulosclerosis 1
Hypertension OMIM:603278
Romano-Ward Syndrome
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia OMIM:600919
Long Qt Syndrome 12
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Sick Sinus Syndrome 1
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... OMIM:608567
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial septal defect, Atrioventricular dissociation, Atrioventricular ... OMIM:614954
Mass Syndrome
Mitral valve prolapse, Aortic aneurysm, Ascending aortic dissection OMIM:604308
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Anomalous origin of left pulmonary artery from ascending aorta, ... ORPHA:99050
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Mitral valve prolapse, Situs inversus totalis, Pulmonic stenosis OMIM:609008
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Systolic heart murmur, Right bundle branch block, Abnormal atrioventricular ... ORPHA:439
Loeys-Dietz Syndrome 2
Aortic root aneurysm, Abdominal aortic aneurysm, Patent ductus arteriosus, Aortic arch aneurysm, ... OMIM:610168
Myopathy Due To Myoadenylate Deaminase Deficiency
Increased muscle fatiguability OMIM:615511
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Short Qt Syndrome 1
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... OMIM:609620
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly, Congestive heart failure, Reduced left ventricular eje... OMIM:614096
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Pulmonary insufficiency, Bicuspid aortic valve, Mitral valve prolapse, Aortic regurgitation, Mitr... ORPHA:555877
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Weakness of long finger extensor muscles, Limb-girdle muscle weakness, Wrist drop, Weakness of th... ORPHA:98912
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Neuroendocrine Tumor Of The Colon
Hypotension, Facial telangiectasia, Tricuspid regurgitation, Abnormal pulmonary valve cusp morpho... ORPHA:100080
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Coarctation of aorta OMIM:616069
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension ORPHA:71529
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Failure to thrive in infancy ORPHA:6
Pseudohypoaldosteronism, Type Iia
Hypertension OMIM:145260
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure, Increased left ve... OMIM:615248
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... OMIM:601154
Primary Membranoproliferative Glomerulonephritis
Myocardial infarction, Hypertension ORPHA:54370
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Long Qt Syndrome 5
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... OMIM:613695
Danon Disease
Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red... OMIM:300257
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Small for gestational age, Hypoglycemia, Intrauterine growth retardation ORPHA:231147
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Pulmonary arterial hypertension, Hypertension, Patent ductus arteriosus OMIM:613355
Zimmermann-Laband Syndrome 1
Aortic root aneurysm, Patent ductus arteriosus, Aortic arch aneurysm, Hepatomegaly, Splenomegaly,... OMIM:135500
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia OMIM:247800
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia, Postnatal growth retardation OMIM:616111
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Left ventricular outflow tract obstruction, Hypoplastic pulmonary ... OMIM:613854
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Congestive hea... OMIM:613697
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C... OMIM:601494
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Cerebral berry aneurysm, Mitral regurgitation, Hypertension OMIM:173900
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Pulmonary insufficiency, Heart murmur, Dilated cardiomyopathy, Con... ORPHA:2326
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Lipodystrophy, Familial Partial, Type 4
Stroke, Hypertension OMIM:613877
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Peripheral arterial stenosis OMIM:124950
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Heart murmur ORPHA:1054
Atrial Standstill 2
Vascular dilatation, Dilatation of the ventricular cavity, Atrial standstill, Stroke, Atrial card... OMIM:615745
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly, Atrioventricular block, Arrhythmia ORPHA:85447
Homozygous Familial Hypercholesterolemia
Sudden cardiac death, Aortic atherosclerotic lesion, Premature arteriosclerosis, Coronary artery ... ORPHA:391665
Erythrocytosis, Familial, 1
Myocardial infarction, Hypertension, Cerebral hemorrhage OMIM:133100
Neuroendocrine Tumor Of The Rectum
Hypotension, Facial telangiectasia, Abnormal pulmonary valve cusp morphology, Melena, Right ventr... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hypotension, Facial telangiectasia, Abnormal pulmonary valve cusp morphology, Melena, Right ventr... ORPHA:100082
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Ischemic stroke, Cerebral hemorrhage, Hypertension, Dilated cardiomyopathy, ... ORPHA:280679
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Short Qt Syndrome 7
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation OMIM:620231
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Type I diabetes mellitus, Hyperins... ORPHA:276580
Analbuminemia
Hypotension, Patent ductus arteriosus OMIM:616000
Pseudohypoaldosteronism Type 2
Hypertension ORPHA:757
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation, Exercise-induced muscle fatigue ORPHA:369847
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Coronary arter... ORPHA:439232
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular hypertrophy, Cardiac arrest, Premature ventricular contraction, Ventricu... OMIM:212138
Pseudoxanthoma Elasticum
Retinal hemorrhage, Restrictive cardiomyopathy, Accelerated atherosclerosis, Mitral stenosis, Int... OMIM:264800
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Increased muscle fatiguability OMIM:616323
Pseudoxanthoma Elasticum
Sudden cardiac death, Retinal hemorrhage, Restrictive cardiomyopathy, Vascular dilatation, Abnorm... ORPHA:758
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation ORPHA:2181
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... OMIM:618447
Denys-Drash Syndrome
Hypertension ORPHA:220
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Cardiomyopathy, Familial Hypertrophic, 26
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... OMIM:617047
Scorpion Envenomation
T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, ST segment depression... ORPHA:466677
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia ORPHA:369873
Preeclampsia
Elevated systolic blood pressure, Elevated diastolic blood pressure, Hypertension ORPHA:275555
Neonatal Hemochromatosis
Hypoglycemia ORPHA:446
Cardiac-Valvular Ehlers-Danlos Syndrome
Pulmonary insufficiency, Mitral valve prolapse, Left ventricular hypertrophy, Atrial septal defec... ORPHA:230851
Creatine Phosphokinase, Elevated Serum
Increased muscle fatiguability OMIM:123320
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Sneddon Syndrome
Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage OMIM:182410
Senior-Loken Syndrome
Hypertension ORPHA:3156
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Double aortic arch, Pulmonary... OMIM:618780
Peripartum Cardiomyopathy
Pulmonary arterial hypertension, Abnormal T-wave, Reduced left ventricular ejection fraction, Hea... ORPHA:563
Amyloidosis, Familial Visceral
Hypertension OMIM:105200
Mucopolysaccharidosis, Type X
Aortic regurgitation, Aortic valve stenosis, Thickened aortic valve cusp, Left ventricular hypert... OMIM:619698
Pure Mitochondrial Myopathy
Fatigable weakness of bulbar muscles, Fatigable weakness of swallowing muscles, Exercise-induced ... ORPHA:254854
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Antisynthetase Syndrome
Pulmonary arterial hypertension, Aortic regurgitation, Myocarditis, Telangiectasia of the skin ORPHA:81
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia ORPHA:67048
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Premature coronary artery atherosclerosis, Angina pectoris ORPHA:140905
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... OMIM:616249
Hurler-Scheie Syndrome
Pulmonary arterial hypertension, Aortic regurgitation, Mitral regurgitation, Hepatomegaly, Spleno... OMIM:607015
Cap Myopathy
Aortic root aneurysm, Sinus tachycardia, Mitral valve prolapse, Fatiguable weakness of proximal l... ORPHA:171881
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Long Qt Syndrome 3
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... OMIM:603830
Timothy Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Prolonged QT interval,... OMIM:601005
Bronchial Neuroendocrine Tumor
Hypotension, Facial telangiectasia, Cardiogenic shock, Abnormal pulmonary valve cusp morphology, ... ORPHA:97287
Idiopathic/Heritable Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Heart murmur, Elevated jugular venous pressure, Syncope, Palpita... ORPHA:422
Arteriosclerosis, Severe Juvenile
Central retinal vessel vascular tortuosity, Calcification of the aorta, Hypertension, Myocardial ... OMIM:208060
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia, Aortic aneurysm ORPHA:261102
Snakebite Envenomation
Hypotension, Cerebral ischemia, Cardiogenic shock, Intracranial hemorrhage, Epistaxis, Myocardial... ORPHA:449285
Familial Idiopathic Dilatation Of The Right Atrium
Complete heart block with narrow QRS complexes, Cardiomegaly, Abnormal cardiac ventricular functi... ORPHA:1677
Stormorken Syndrome
Epistaxis, Subarachnoid hemorrhage, Increased muscle fatiguability OMIM:185070
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Pulmonary hemorrhage OMIM:603585
Cardiomyopathy, Dilated, 1S
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... OMIM:613426
Hyperaldosteronism, Familial, Type I
Hypertension OMIM:103900
Methanol Poisoning
Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemorrhage, Inflammatory arterio... ORPHA:31825
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
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Sudden cardiac death, Palpitations, Atrioventricular block, Atrial arrhythmia, Absent P wave, Fir... OMIM:310300
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Multiple Acyl-Coa Dehydrogenase Deficiency
Exercise-induced muscle fatigue, Fatigable weakness of neck muscles, Congestive heart failure, Ab... ORPHA:26791
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septal defect, Perimembranous ventricular septa... OMIM:620135
Scheie Syndrome
Aortic regurgitation, Splenomegaly, Hepatomegaly ORPHA:93474
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect, Aortic regurgitation, Mitral regurgitation, Arrh... ORPHA:254346
Abdominal Obesity-Metabolic Syndrome 3
Myocardial infarction, Stroke, Coronary artery stenosis, Hypertension OMIM:615812
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia, Intrauteri... OMIM:606176
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Potocki-Shaffer Syndrome
Hypertension ORPHA:52022
Aa Amyloidosis
Hypotension, Enlarged kidney, Abnormal heart morphology, Hepatomegaly ORPHA:85445
Glycogen Storage Disease Ixb
Hypoglycemia, Growth delay, Short stature OMIM:261750
Telangiectasia, Hereditary Benign
Vascular dilatation, Diffuse telangiectasia OMIM:187260
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... OMIM:171420
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Small for gestational age, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Right ventricular dilatation, Left ventri... OMIM:614022
Williams Syndrome
Sudden cardiac death, Aortic arch aneurysm, Abnormal cardiac septum morphology, Abnormal carotid ... ORPHA:904
Mehmo Syndrome
Birth length less than 3rd percentile, Small for gestational age, Delayed puberty, Hypoglycemia, ... OMIM:300148
Hughes-Stovin Syndrome
Pulmonary arterial hypertension, Pulmonary embolism, Pulmonary artery aneurysm, Arterial stenosis... ORPHA:228116
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Short stature, Ketotic hypoglycemia, Glycosuria, Failure to thrive, Postprandial hyperglycemia ORPHA:2089
Complete Atrioventricular Septal Defect
Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Thir... ORPHA:1329
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Exercise-induced muscle fatigue ORPHA:2364
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension OMIM:201910
Brugada Syndrome 1
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... OMIM:601144
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic left... ORPHA:2248
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Cutaneous Mastocytoma
Hypotension, Telangiectasia of the skin, Telangiectasia macularis eruptiva perstans ORPHA:79455
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Increased muscle fatiguability OMIM:613077
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... OMIM:612240
Dengue Fever
Hypotension, Cerebral hemorrhage, Epistaxis, Gastrointestinal hemorrhage, Hepatomegaly ORPHA:99828
Erythrocytosis, Familial, 2
Pulmonary arterial hypertension, Hypotension, Cerebral hemorrhage, Stroke, Varicose veins OMIM:263400
2P21 Microdeletion Syndrome
Failure to thrive, Hypoglycemia, Growth delay ORPHA:163693
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Right bundle branch block, Left posterior fascicular block, Syncope, Left a... OMIM:113900
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Endocardial Fibroelastosis
Hypoglycemia ORPHA:2022
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
1P36 Deletion Syndrome
Patent ductus arteriosus, Aortic arch aneurysm, Telangiectasia, Abnormal cardiac septum morpholog... ORPHA:1606
Postorgasmic Illness Syndrome
Palpitations, Hypertension ORPHA:279947
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Muscular dystrophy, Ventric... ORPHA:300751
Adult Acute Respiratory Distress Syndrome
Hypotension, Shock, Vasculitis ORPHA:70578
Arterial Tortuosity Syndrome
Aortic root aneurysm, Vascular dilatation, Abnormal carotid artery morphology, Cardiac arrest, Ao... ORPHA:3342
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy OMIM:617713
Glutaric Aciduria Iii
Hypertension OMIM:231690
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Type I diabetes mellitus, Hyperinsulinemic hypoglycem... ORPHA:276575
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation OMIM:616603
Cardiac Diverticulum
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Pulmonary artery stenosis, Endocarditis,... ORPHA:1686
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Congestive heart failure, Myocardial infarction, Premature coronary artery ather... OMIM:176670
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Cardiomyopathy, Abnormal EKG ORPHA:1177
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Bicuspid aortic valve, Hypertension, Arterial dissection, Coarctation of ao... ORPHA:99413
Mosaic Monosomy X
Aortic arch aneurysm, Bicuspid aortic valve, Hypertension, Arterial dissection, Coarctation of ao... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Bicuspid aortic valve, Hypertension, Arterial dissection, Coarctation of ao... ORPHA:99226
Turner Syndrome
Aortic arch aneurysm, Bicuspid aortic valve, Hypertension, Arterial dissection, Coarctation of ao... ORPHA:881
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemic ... ORPHA:276556
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... OMIM:618920
Plin1-Related Familial Partial Lipodystrophy
Hypertension ORPHA:280356
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Short stature ORPHA:364
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... ORPHA:57777
Neuroendocrine Tumor Of Stomach
Hypotension, Facial telangiectasia, Cardiogenic shock, Abnormal pulmonary valve cusp morphology, ... ORPHA:100075
Truncus Arteriosus
Truncus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Interrupted aortic arch... ORPHA:3384
Cutis Marmorata Telangiectatica Congenita
Telangiectasia, Hypertension OMIM:219250
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension ORPHA:181
Cardiomyopathy, Dilated, 1G
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... OMIM:604145
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy ORPHA:1349
Naxos Disease
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... OMIM:601214
Nephronophthisis 18
Hypertension OMIM:615862
Mody
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Large for gestational ag... ORPHA:552
Perry Syndrome
Hypotension ORPHA:178509
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Patent ductus arteriosus, Tachycardia, Hypertension OMIM:613870
Pseudohypoaldosteronism, Type Iib
Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension OMIM:614495
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect OMIM:212090
Nipah Virus Disease
Hypotension ORPHA:99825
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hypoglycemia, Intrauterine growth retardation OMIM:619048
Grange Syndrome
Carotid artery stenosis, Coronary artery stenosis, Renovascular hypertension, Renal artery stenosis OMIM:602531
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Syncope, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension OMIM:202110
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Dopamine Beta-Hydroxylase Deficiency
Exercise-induced muscle fatigue, Abnormal EKG, Syncope, Orthostatic hypotension, Orthostatic syncope ORPHA:230
Liddle Syndrome 2
Hypertension OMIM:618114
Polyarteritis Nodosa
Pericarditis, Raynaud phenomenon, Hypertension, Cardiomyopathy ORPHA:767
Loeys-Dietz Syndrome 6
Abdominal aortic aneurysm, Ventricular hypertrophy, Vertebral artery aneurysm, Carotid artery dis... OMIM:619656
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Intrauterine growth retardation, Ketotic hypoglycemia ORPHA:26792
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... OMIM:619657
Brugada Syndrome 2
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... OMIM:611777
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Temple Syndrome
Short stature, Small for gestational age, Type II diabetes mellitus, Recurrent hypoglycemia, Obes... ORPHA:254516
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... OMIM:608569
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Alagille Syndrome 2
Pulmonic stenosis, Tetralogy of Fallot, Hypertension, Peripheral pulmonary artery stenosis OMIM:610205
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta OMIM:601612
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular outflow tract obstruction, Cardiomegaly, Fatigable weakness of respiratory muscl... ORPHA:365
Atrioventricular septal defect 3
Pulmonary arterial hypertension, Midsystolic murmur, Hypertension, Congestive heart failure, Firs... OMIM:600309
Kleefstra Syndrome Due To 9Q34 Microdeletion
Conotruncal defect, Abnormal cardiac septum morphology, Aortic regurgitation, Aortic valve stenos... ORPHA:96147
Temtamy Syndrome
Aortic regurgitation OMIM:218340
Propionic Acidemia
Hypoglycemia ORPHA:35
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short stature, Small for gestational age, Insulin resistance, Failure to thrive, Hypoglycemia, Se... ORPHA:73272
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Intracranial hemorrhage, Hypertension, Epistaxis, Palpitations ORPHA:231625
Mucolipidosis Type Ii
Patent foramen ovale, Pulmonary insufficiency, Abnormal mitral valve morphology, Abnormal aortic ... ORPHA:576
Gitelman Syndrome
Abnormal T-wave, Prominent U wave, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST ... ORPHA:358
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Hepatosplenomegaly ORPHA:309288
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Short stature, Failure to thrive, Delayed puberty, Hypoglycemia, Growth delay ORPHA:369
Atrial Septal Defect, Sinus Venosus Type
Systolic heart murmur, Supraventricular arrhythmia, Premature atrial contractions, Palpitations, ... ORPHA:99105
Ganglioneuroma
Hypertension, Gastrointestinal hemorrhage ORPHA:251992
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Ischemic stroke, Hypertension, Aortic regurgitation, Telangiectases of t... OMIM:208050
Transaldolase Deficiency
Telangiectasia, Atrial septal defect, Hepatosplenomegaly, Coarctation of aorta, Biventricular hyp... ORPHA:101028
Cardiomyopathy, Dilated, 2D
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... OMIM:619371
Neurooculocardiogenitourinary Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... OMIM:618652
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension ORPHA:567544
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension OMIM:618061
Absence Of The Pulmonary Artery
Pulmonary arterial hypertension, Patent ductus arteriosus, Systolic heart murmur, Patent foramen ... ORPHA:980
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Pulmonary arterial hypertension, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomega... OMIM:619051
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Small for gestational age, Hypoglycemia, Short stature, Postnatal growth retardation ORPHA:231137
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Hyp... ORPHA:330001
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hypoglycemia OMIM:617872
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp... ORPHA:555874
Familial Hyperaldosteronism Type I
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:403
Scrub Typhus
Hypotension, Myocarditis, Splenomegaly ORPHA:83317
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Mitral regurgitation, Congestive heart failure, Ventricular septal defect OMIM:123700
Infantile Sialic Acid Storage Disease