Gene: Abcc9 MGI:1352630

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Gene Summary

Name:
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
Synonyms:
SUR2B,  SUR2A,  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
increased monocyte cell number Abcc9em1(IMPC)H HET Early adult 2.85×10-05
decreased lymphocyte cell number Abcc9em1(IMPC)H HET Early adult 2.22×10-05

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Viewing: all phenotypes
Select physiological systems to view:
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 associated to Abcc9 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Cantu Syndrome
Pericardial effusion, Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Cardiom... OMIM:239850
Hypertrichotic Osteochondrodysplasia, Cantu Type
Abnormal heart valve morphology, Patent ductus arteriosus, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:1517
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy ORPHA:154
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Hypertrichosis-Acromegaloid Facial Appearance Syndrome
ORPHA:966
Acromegaloid Facial Appearance Syndrome
ORPHA:965

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 40
Lymphopenia OMIM:616433
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Hypertension, Essential
Elevated mean arterial pressure, Elevated diastolic blood pressure, Elevated systolic blood pressure OMIM:145500
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension OMIM:608320
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
Immunodeficiency 8
Lymphopenia OMIM:615401
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Hypoalphalipoproteinemia, Primary, 1
Myocardial infarction, Premature coronary artery atherosclerosis OMIM:604091
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension ORPHA:3188
Short Stature Due To Ghsr Deficiency
Growth delay, Abnormality of body weight, Decreased body weight, Hypoglycemia, Delayed puberty, S... ORPHA:314811
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Corticosteroid-Binding Globulin Deficiency
Hypotension, Increased muscle fatiguability, Hypertension OMIM:611489
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Coronary artery atherosclerosi... OMIM:613485
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Severe short stature, Hypoglycemia OMIM:223500
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Cardiomyopathy, Familial Hypertrophic, 13
ST segment depression, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular fibrillation... OMIM:613243
Isolated Growth Hormone Deficiency, Type Ia
Severe short stature, Pituitary dwarfism, Hypoglycemia OMIM:262400
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Arrhythmia, Congestive heart failure, Abnormal ST segment ORPHA:1055
Short Stature Due To Partial Ghr Deficiency
Growth delay, Short stature, Hypoglycemia, Delayed puberty ORPHA:314802
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Arterial Calcification, Generalized, Of Infancy, 1
Generalized arterial calcification, Hypertension, Myocardial infarction, Congestive heart failure... OMIM:208000
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism, Peripheral arterial stenosis OMIM:134400
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Prolonged QTc interval, Syncope, Cardiogenic shock, Decreased QRS voltage... ORPHA:66529
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... OMIM:614980
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Brugada Syndrome 6
Ventricular fibrillation, Cardiac arrest, ST segment elevation OMIM:613119
Pituitary Hormone Deficiency, Combined, 4
Short stature, Severe postnatal growth retardation, Pituitary dwarfism, Hypoglycemia OMIM:262700
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Grange Syndrome
Hypertension, Patent ductus arteriosus, Arterial stenosis, Aortic regurgitation ORPHA:79094
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Aortic regurgitation, Abnormal lef... ORPHA:229
Familial Bicuspid Aortic Valve
Abnormal left ventricular outflow tract morphology, Thoracic aorta calcification, Aortic regurgit... ORPHA:402075
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... ORPHA:3400
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia OMIM:610021
Brugada Syndrome 5
Ventricular fibrillation, Bundle branch block, ST segment elevation OMIM:612838
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Aortic regurgitation, Abnormal left ventricular function, Patent duc... OMIM:132900
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery ... OMIM:185500
Paragangliomas 6
Hypertension OMIM:618464
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Leukopenia, Refractory anemia OMIM:616871
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Congestive heart failure, Coronary artery calcification, Hypertension OMIM:614473
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Short stature, Hypoglycemia ORPHA:366
Aortic Aneurysm, Familial Thoracic 10
Coronary artery atherosclerosis, Bicuspid aortic valve, Aortic root aneurysm, Mitral regurgitatio... OMIM:617168
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Short chordae tendineae of the mitral valve, Conge... OMIM:314400
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Short stature, Hypoglycemia OMIM:616113
Partial Atrioventricular Septal Defect
Palpitations, Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Angina pect... ORPHA:1330
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetic ketoacidosis, Intrauterine growth retardation, Hyp... OMIM:613370
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... OMIM:614470
Nathalie Syndrome
Abnormal EKG OMIM:255990
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Abnormal left ventricular function, I... ORPHA:97292
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, ST segment depression, Hypertension, Abnormal cerebral artery morphology, Myocar... ORPHA:90065
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Preeclampsia/Eclampsia 1
Hypertension OMIM:189800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity OMIM:613375
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, T-wave inversion, Ventricular tachycardia, Ventricular fibrillation, ST... ORPHA:263297
Familial Cervical Artery Dissection
Carotid artery dilatation, Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Hypertension, ... ORPHA:36382
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Immunodeficiency 19
Lymphopenia OMIM:615617
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Sneddon Syndrome
Intracranial hemorrhage, Arterial stenosis, Hypertension ORPHA:820
Moyamoya Disease With Early-Onset Achalasia
Moyamoya phenomenon, Raynaud phenomenon, Hypertension ORPHA:401945
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Long Qt Syndrome 11
Prolonged QT interval, Syncope OMIM:611820
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... ORPHA:45452
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Coronary artery atherosclerosis, Cerebral artery atherosclerosis, Arterial stenosis, Hypertension ORPHA:1192
Ethanolaminosis
Cardiomegaly OMIM:227150
Glycogen Storage Disease Vi
Postnatal growth retardation, Hypoglycemia, Failure to thrive in infancy OMIM:232700
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Myocardial infarction, Hypertension OMIM:610947
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Congestive heart failure, Premature coronary artery atherosclerosis, Hyper... OMIM:615703
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Glycogen Storage Disease Ixa1
Growth delay, Hypoglycemia OMIM:306000
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiogenic shock, Reduced... ORPHA:75565
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance OMIM:125853
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:220400
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Hypertension, Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:1345
Adenosine Monophosphate Deaminase Deficiency
Exercise-induced muscle fatigue ORPHA:45
Congenital Aortic Valve Stenosis
Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Angina pe... ORPHA:3093
Takayasu Arteritis
Hypertensive crisis, Hypertension, Vascular dilatation, Myocardial infarction, Cerebral ischemia,... ORPHA:3287
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Pulmonary Hypertension, Primary, 1
Right ventricular failure, Pulmonary arterial medial hypertrophy, Pulmonary aterial intimal fibro... OMIM:178600
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgitation, Left ventricular noncom... OMIM:616501
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Abnormal aortic morphology, Arrhythmia, Hypertension ORPHA:3222
Long Qt Syndrome 10
Atrial fibrillation, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, T-wave ... OMIM:611819
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascendin... OMIM:616166
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Iga Nephropathy, Susceptibility To, 2
Hypertension OMIM:613944
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Telangiectases producing 'marbled' skin, Hypertension OMIM:206570
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Growth delay, Hypoglycemia OMIM:616111
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Dimethylglycine Dehydrogenase Deficiency
Increased muscle fatiguability ORPHA:243343
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Mitral valve prolapse, Mitral regurgitation, Aortic regurgitation OMIM:225320
Coenzyme Q10 Deficiency, Primary, 2
Pulmonary arterial hypertension, Mitral regurgitation, Aortic regurgitation OMIM:614651
Erythrocyte Lactate Transporter Defect
Exercise-induced muscle fatigue OMIM:245340
Atrial Septal Defect, Ostium Secundum Type
Palpitations, Arrhythmia, Bundle branch block, Right ventricular failure, Supraventricular arrhyt... ORPHA:99103
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Growth Hormone Insensitivity Syndrome
Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitus, Short stature, Fail... ORPHA:181393
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Intracranial hemorrhage, Subarachnoid hemorrhage, Cerebral ... ORPHA:231160
Long Qt Syndrome 1
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:192500
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:612347
Renal Failure, Progressive, With Hypertension
Hypertension OMIM:161900
Scheie Syndrome
Aortic valve stenosis, Aortic regurgitation OMIM:607016
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve calcification, Aortic valve stenosis, Aortic regurgitation OMIM:114065
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Periventricular Nodular Heterotopia
Abnormal heart valve morphology, Aortic regurgitation ORPHA:98892
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Liddle Syndrome 3
Hypertension OMIM:618126
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia, Intrauterine growt... OMIM:601410
Liddle Syndrome
Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
Familial Partial Lipodystrophy, Köbberling Type
Coronary artery atherosclerosis, Hypertension ORPHA:79084
Long Qt Syndrome 3
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:603830
Long Qt Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613688
Long Qt Syndrome 6
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613693
Long Qt Syndrome 5
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613695
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia ORPHA:67046
Moyamoya Disease 1
Inflammatory arteriopathy, Telangiectasia, Carotid artery occlusion OMIM:252350
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Intermittent claudication, Renovascular hypertension, Myocardia... OMIM:135580
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormal left ventricular function, Patent ductus arteriosus, Cardiomegaly, Aortic root aneurysm,... ORPHA:91387
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Dimethylglycine Dehydrogenase Deficiency
Increased muscle fatiguability OMIM:605850
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Lipodystrophy, Familial Partial, Type 4
Hypertension OMIM:613877
Familial Atrial Myxoma
Cardiac myxoma, Tricuspid regurgitation, Vascular dilatation, Heart murmur, Congestive heart fail... ORPHA:615
Congenital Tricuspid Stenosis
Hypotension, Tricuspid regurgitation, Tricuspid stenosis, Heart murmur, Congestive heart failure,... ORPHA:95459
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Zimmermann-Laband Syndrome 1
Patent ductus arteriosus, Hepatomegaly, Splenomegaly, Aortic root aneurysm, Cardiomyopathy, Aorti... OMIM:135500
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Tricuspid regurgitation, Cardiomegaly OMIM:618052
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Patent ductus arteriosus, Hypertension OMIM:617021
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Lymphopenia, Decreased CD4:CD8 ratio,... OMIM:615897
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Dilatation of the cerebral artery, Hypertension OMIM:600666
Lessel-Kubisch Syndrome
Hypertension OMIM:618681
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Abnormal cardiac exercise stress test, Sudden cardiac... ORPHA:101016
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Hypertension OMIM:605711
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Raynaud phenomenon, Hypertension OMIM:615750
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Atrial septal defect, Bicuspid aortic valve OMIM:618496
Cutis Laxa, Autosomal Dominant 1
Mitral regurgitation, Aortic regurgitation OMIM:123700
Mucolipidosis Iii Gamma
Aortic valve stenosis, Aortic regurgitation OMIM:252605
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Hypotension OMIM:156310
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
9Q31.1Q31.3 Microdeletion Syndrome
Renovascular hypertension, Dilated cardiomyopathy, Aortic regurgitation, Bicuspid aortic valve ORPHA:401923
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Sinus bradycardia, Peripheral arterial stenosis OMIM:126320
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Single ventricle, Supraventricular... ORPHA:216694
Hydroxykynureninuria
Hypotension, Tachycardia OMIM:236800
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension OMIM:605115
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Abdominal Obesity-Metabolic Syndrome 3
Myocardial infarction, Coronary artery stenosis, Hypertension OMIM:615812
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy ORPHA:225
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Intracranial hemorrhage, Hypertension, Cerebral hemorrhage, Cerebral ischemia, L... ORPHA:136
Lipodystrophy, Familial Partial, Type 1
Prominent superficial veins, Coronary artery atherosclerosis, Hypertension OMIM:608600
Hurler-Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Splenomegaly, Pulmonary arterial hypertension, Mitral regurgi... OMIM:607015
Acquired Von Willebrand Syndrome
Joint hemorrhage, Aortic regurgitation, Gastrointestinal hemorrhage, Intracranial hemorrhage, Hyp... ORPHA:99147
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Hypertension OMIM:268500
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Diabetes mellitus, Hyperinsulinemic hypoglycemia, Glucose intolerance OMIM:147630
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Myopathy Due To Myoadenylate Deaminase Deficiency
Increased muscle fatiguability OMIM:615511
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR interval, Cardiome... OMIM:261740
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... OMIM:611788
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Postnatal growth retardation, Hypoglycemia, Decreased body weight, Small f... ORPHA:231140
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia OMIM:610090
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Cirrhosis, Familial
Pulmonary arterial hypertension, Hypertension OMIM:215600
Abdominal Obesity-Metabolic Syndrome 4
Myocardial infarction, Coronary artery atherosclerosis, Accelerated atherosclerosis, Hypertension OMIM:618620
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Long Qt Syndrome 12
Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope OMIM:612955
Extracranial Carotid Artery Aneurysm
Arterial fibromuscular dysplasia, Arteritis, Subarachnoid hemorrhage, Arteriosclerosis, Hypertens... ORPHA:494424
Focal Segmental Glomerulosclerosis 1
Hypertension OMIM:603278
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension ORPHA:71529
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Atrial flutter, Congestive heart failure, Cardiomegaly OMIM:300886
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Ventricula... ORPHA:99050
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Marfanoid Habitus With Situs Inversus
Pulmonic stenosis, Mitral valve prolapse, Situs inversus totalis, Aortic regurgitation OMIM:609008
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary insufficiency, Heart murmur, Congestive heart failure, Double out... ORPHA:2326
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Loeys-Dietz Syndrome 2
Descending thoracic aorta aneurysm, Carotid artery dilatation, Atrial septal defect, Arterial tor... OMIM:610168
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Hypertension, Con... OMIM:540000
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Bundle branch block, Congestive heart failure, Heart block, Syncope ORPHA:871
Lcat Deficiency
Atherosclerosis, Hypertension ORPHA:650
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Failure to thrive OMIM:610768
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Failure to thrive in infancy ORPHA:6
Sneddon Syndrome
Cerebral hemorrhage, Ischemic stroke, Hypertension OMIM:182410
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Intrauterine growth retardation, Small for gestational age, Hypoglycemia ORPHA:231147
Pseudohypoaldosteronism, Type Iia
Hypertension OMIM:145260
Hypokalemic Periodic Paralysis
Fatigable weakness of respiratory muscles, Exercise-induced muscle fatigue ORPHA:681
Marfanoid Hypermobility Syndrome
Mitral regurgitation, Aortic regurgitation OMIM:154750
Neuroendocrine Tumor Of The Colon
Palpitations, Right ventricular failure, Hypotension, Abnormal pulmonary valve cusp morphology, T... ORPHA:100080
Glucocorticoid Resistance, Generalized
Hypertension OMIM:615962
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Vascular dilatation, Impaired myocardial contractility, Congestive heart ... OMIM:600884
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral regurgitation, Cerebral berry aneurysm, Hypertension OMIM:173900
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Left bundle branch bloc... OMIM:115197
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Primary Membranoproliferative Glomerulonephritis
Myocardial infarction, Hypertension ORPHA:54370
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Peripheral arterial stenosis OMIM:124950
Homozygous Familial Hypercholesterolemia
Calcification of the aorta, Premature coronary artery atherosclerosis, Coronary artery aneurysm, ... ORPHA:391665
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Ischemic stroke, Hypertension, Coronary artery atherosclerosis, Cerebral hem... ORPHA:280679
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension ORPHA:84090
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... ORPHA:486
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus, Hypertension OMIM:613355
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia ORPHA:369873
Aneurysm Of Sinus Of Valsalva
Heart murmur, Congestive heart failure, Bacterial endocarditis, Aortic regurgitation ORPHA:1054
Stormorken Syndrome
Increased muscle fatiguability, Epistaxis OMIM:185070
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Small for gestational age, Hypoglycemia OMIM:614702
Denys-Drash Syndrome
Hypertension ORPHA:220
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Congestive heart failure, Cardiomegaly OMIM:618654
Antisynthetase Syndrome
Pulmonary arterial hypertension, Telangiectasia of the skin, Aortic regurgitation, Myocarditis ORPHA:81
Analbuminemia
Hypotension, Patent ductus arteriosus OMIM:616000
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hypoglycemia OMIM:617872
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Ischemic stroke, Aortic regurgitation, Hypertension, Aortic valve stenos... OMIM:208050
Amyloidosis, Familial Visceral
Hypertension OMIM:105200
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation ORPHA:2181
Pseudohypoaldosteronism Type 2
Hypertension ORPHA:757
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Exercise-induced muscle fatigue, Right ventricular dilatation ORPHA:369847
Neuroendocrine Tumor Of The Rectum
Palpitations, Right ventricular failure, Hematochezia, Hypotension, Abnormal pulmonary valve cusp... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Palpitations, Right ventricular failure, Hematochezia, Hypotension, Abnormal pulmonary valve cusp... ORPHA:100082
Preeclampsia
Elevated diastolic blood pressure, Hypertension, Elevated systolic blood pressure ORPHA:275555
Scorpion Envenomation
Cardiogenic shock, Arrhythmia, Bundle branch block, Cardiac conduction abnormality, T-wave invers... ORPHA:466677
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Vascular dilatation, Atrial arrhythmia, A... OMIM:615745
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Cardiac-Valvular Ehlers-Danlos Syndrome
Atrial septal defect, Aortic regurgitation, Pulmonary insufficiency, Abnormal heart valve morphol... ORPHA:230851
Creatine Phosphokinase, Elevated Serum
Increased muscle fatiguability OMIM:123320
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Aapoaiv Amyloidosis
Cardiac conduction abnormality, Abnormal cardiac ventricular function, Atrial flutter, Atrial fib... ORPHA:439232
Cap Myopathy
Fatiguable weakness of proximal limb muscles, Sinus tachycardia, Reduced systolic function, Aorti... ORPHA:171881
Senior-Loken Syndrome
Hypertension ORPHA:3156
Mpi-Cdg
Hypoglycemia ORPHA:79319
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Increased muscle fatiguability OMIM:613077
Scheie Syndrome
Hepatomegaly, Aortic regurgitation, Splenomegaly ORPHA:93474
Arteriosclerosis, Severe Juvenile
Calcification of the aorta, Arteriosclerosis, Central retinal vessel vascular tortuosity, Hyperte... OMIM:208060
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Hypertension OMIM:133100
Neonatal Hemochromatosis
Hypoglycemia ORPHA:446
Pseudoxanthoma Elasticum
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Intermittent claudication, Angina pecto... OMIM:264800
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia ORPHA:67048
Diffuse Cutaneous Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Hepatomegaly ORPHA:79456
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Pure Mitochondrial Myopathy
Fatigable weakness of neck muscles, Fatigable weakness of swallowing muscles, Exercise-induced mu... ORPHA:254854
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Restrictive cardiomyopathy, Hypertension, Telangiec... ORPHA:758
Hyperaldosteronism, Familial, Type I
Hypertension OMIM:103900
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Intrauterine growth retardation, Failure to thrive, Hypoglycemia OMIM:617156
Hereditary Arterial And Articular Multiple Calcification Syndrome
Arterial tortuosity, Arterial calcification, Abnormal cardiovascular system physiology, Arterial ... ORPHA:289601
Methanol Poisoning
Intracranial hemorrhage, Inflammatory arteriopathy, Hypertension, Permanent atrial fibrillation, ... ORPHA:31825
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Aortic regurgitation OMIM:603585
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis OMIM:610680
19P13.12 Microdeletion Syndrome
Atrial septal defect, Arrhythmia, Aortic regurgitation, Ventricular septal defect, Mitral regurgi... ORPHA:254346
Timothy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Prolonged QT interval, Patent ... OMIM:601005
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Ventricular extrasystoles, Ventricular tachycardia, Hepatom... OMIM:212138
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Bronchial Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Right ventricular failure, Hypotension, Abnormal pulmonary valve... ORPHA:97287
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris, Premature coronary artery atherosclerosis ORPHA:140905
Postorgasmic Illness Syndrome
Palpitations, Hypertension ORPHA:279947
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension OMIM:166300
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension OMIM:201910
Multiple Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Abnormal heart morphology, Exercise-induced muscle fatigue, Congestive heart failure,... ORPHA:26791
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia, Short stature OMIM:262600
Mehmo Syndrome
Hypoglycemia, Delayed puberty, Birth length less than 3rd percentile, Small for gestational age, ... OMIM:300148
Potocki-Shaffer Syndrome
Hypertension ORPHA:52022
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Palpitations, Prolonged PR interval, Prolonged QTc interval OMIM:612240
Glutaric Aciduria Iii
Hypertension OMIM:231690
Idiopathic/Heritable Pulmonary Arterial Hypertension
Palpitations, Abnormal cardiovascular system physiology, Tricuspid regurgitation, Right ventricul... ORPHA:422
Telangiectasia, Hereditary Benign
Diffuse telangiectasia, Vascular dilatation OMIM:187260
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Autosomal Dominant Cutis Laxa
Abnormal heart valve morphology, Pulmonic stenosis, Aortic aneurysm ORPHA:90348
Peripartum Cardiomyopathy
Cardiogenic shock, Palpitations, Reduced ejection fraction, Right ventricular failure, Dilated ca... ORPHA:563
Aa Amyloidosis
Hypotension, Hepatomegaly, Abnormal heart morphology, Enlarged kidney ORPHA:85445
Atrial Fibrillation, Familial, 10
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgit... OMIM:614022
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Williams Syndrome
Abnormal carotid artery morphology, Abnormal endocardium morphology, Mitral regurgitation, Patent... ORPHA:904
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hyp... ORPHA:276575
Danon Disease
Arrhythmia, Myocardial fibrosis, Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegal... OMIM:300257
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Coarctation of aorta, Pulmonary artery hypoplasia, Tricuspid regurgitatio... OMIM:613426
Endocardial Fibroelastosis
Hypoglycemia ORPHA:2022
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Short stature, Failure to thrive ORPHA:2089
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Exercise-induced muscle fatigue ORPHA:2364
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Hurler Syndrome
Aortic regurgitation, Endocardial fibroelastosis, Hepatomegaly, Splenomegaly, Mitral regurgitatio... OMIM:607014
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Mitral regurgitation, Congestive heart failure, Atrial fibrillation OMIM:617047
Hughes-Stovin Syndrome
Pulmonary embolism, Pulmonary artery aneurysm, Pulmonary arterial hypertension, Vasculitis, Arter... ORPHA:228116
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypogly... ORPHA:276556
1P36 Deletion Syndrome
Abnormal heart valve morphology, Patent ductus arteriosus, Tetralogy of Fallot, Dilated cardiomyo... ORPHA:1606
2P21 Microdeletion Syndrome
Growth delay, Failure to thrive, Hypoglycemia ORPHA:163693
Liddle Syndrome 2
Hypertension OMIM:618114
Truncus Arteriosus
Abnormal coronary artery morphology, Abnormal heart valve physiology, Patent ductus arteriosus, C... ORPHA:3384
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension ORPHA:181
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... ORPHA:2248
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Patent ductus arteriosus, Hypertension OMIM:613870
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation OMIM:616603
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension OMIM:618061
Plin1-Related Familial Partial Lipodystrophy
Hypertension ORPHA:280356
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Right aortic arch, Ventricular septal defect OMIM:613751
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171420
Arterial Tortuosity Syndrome
Abnormal carotid artery morphology, Aortic aneurysm, Hypertension, Telangiectasia of the skin, Ao... ORPHA:3342
Brugada Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged PR interval, First degree atrioventricu... OMIM:611777
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension OMIM:202110
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Atherosclerosis, Hypertension, Pulmonary arterial hypertension, Right bundle b... OMIM:614008
Short Chain Acyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Ketotic hypoglycemia, Failure to thrive ORPHA:26792
Mucolipidosis Type Ii
Aortic regurgitation, Abnormal mitral valve morphology, Pulmonary insufficiency, Abnormal aortic ... ORPHA:576
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Short stature, Hypoglycemia ORPHA:364
Turner Syndrome Due To Structural X Chromosome Anomalies
Atrial septal defect, Coarctation of aorta, Hypertension, Arterial dissection, Myocardial infarct... ORPHA:99413
Mosaic Monosomy X
Atrial septal defect, Coarctation of aorta, Hypertension, Arterial dissection, Myocardial infarct... ORPHA:99228
Monosomy X
Atrial septal defect, Coarctation of aorta, Hypertension, Arterial dissection, Myocardial infarct... ORPHA:99226
Turner Syndrome
Atrial septal defect, Coarctation of aorta, Hypertension, Arterial dissection, Myocardial infarct... ORPHA:881
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Small for gestational age, Intrauterine growth retardation, Hyperglycem... OMIM:606176
Hutchinson-Gilford Progeria Syndrome
Premature coronary artery atherosclerosis, Angina pectoris, Precocious atherosclerosis, Myocardia... OMIM:176670
Dengue Fever
Gastrointestinal hemorrhage, Hypotension, Epistaxis, Hepatomegaly, Cerebral hemorrhage ORPHA:99828
Alpha-Mannosidosis, Adult Form
Hepatosplenomegaly, Aortic regurgitation ORPHA:309288
Cutis Marmorata Telangiectatica Congenita
Telangiectasia, Hypertension OMIM:219250
Pseudohypoaldosteronism, Type Iib
Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension OMIM:614495
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Heart murmur, Congestive heart failure, Cardiomegaly, Splenom... OMIM:252500
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis OMIM:618858
Muscular Dystrophy, Duchenne Type
Arrhythmia, Cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy, Abnormal EKG OMIM:310200
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension ORPHA:567544
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenome... ORPHA:444463
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Aortic valve stenosis, Tetralogy of Fallot, Abnormal cardiac septum morphol... ORPHA:96147
Gitelman Syndrome
Palpitations, Low-to-normal blood pressure, ST segment depression, Prominent U wave, Abnormal T-w... ORPHA:358
Grange Syndrome
Renovascular hypertension, Carotid artery stenosis, Coronary artery stenosis, Renal artery stenosis OMIM:602531
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Exercise-induced muscle fatigue, Orthostatic syncope, Abnormal EKG, Syncope ORPHA:230
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Perry Syndrome
Hypotension ORPHA:178509
Temple Syndrome
Postnatal growth retardation, Small for gestational age, Type II diabetes mellitus, Short stature... ORPHA:254516
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy ORPHA:1349
Adult Acute Respiratory Distress Syndrome
Hypotension, Vasculitis, Shock ORPHA:70578
Alagille Syndrome 2
Pulmonic stenosis, Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Hypertension OMIM:610205
Polyarteritis Nodosa
Raynaud phenomenon, Hypertension, Pericarditis, Cardiomyopathy ORPHA:767
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Ventricular tachycardia OMIM:600649
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve ORPHA:228190
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
Hemorrhagic Fever-Renal Syndrome
Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhage, Subconjunctival hemorrhage, Hyp... ORPHA:340
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Intrauterine growth retardation, Failure to thrive, Hypoglycemia OMIM:619048
Mass Syndrome
Mitral valve prolapse, Aortic aneurysm OMIM:604308
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Snakebite Envenomation
Cardiogenic shock, Intracranial hemorrhage, Hypotension, Epistaxis, Myocardial infarction, Tachyc... ORPHA:449285
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Myocardial infarction, Congesti... ORPHA:330001
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Intracranial hemorrhage, Mitral valve calcification, Aortic atherosclero... ORPHA:363618
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Transaldolase Deficiency
Atrial septal defect, Biventricular hypertrophy, Coarctation of aorta, Hepatosplenomegaly, Telang... ORPHA:101028
Ganglioneuroma
Hypertension, Gastrointestinal hemorrhage ORPHA:251992
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Postnatal growth retardation, Hypoglycemia, Severe intrauterine growth retard... ORPHA:73272
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Glycogen Storage Disease Due To Acid Maltase Deficiency
Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Basilar arte... ORPHA:365
Erythrocytosis, Familial, 2
Hypotension, Varicose veins, Cerebral hemorrhage OMIM:263400
Nipah Virus Disease
Hypotension ORPHA:99825
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Atrioventricular Septal Defect 3
Midsystolic murmur, Hypertension, Congestive heart failure, First degree atrioventricular block, ... OMIM:600309
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Anomalous pulmonary venous return, Pericardial effus... ORPHA:555874
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypoglycemia, Glycosuria, Short stature, Diabetes mellitus, Large for gestational age OMIM:616026
Temtamy Syndrome
Aortic regurgitation OMIM:218340
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Per... ORPHA:1209
Propionic Acidemia
Hypoglycemia ORPHA:35
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Coenzyme Q10 Deficiency, Primary, 8
Hypertension OMIM:616733
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle lev... OMIM:618986
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid regurgitation, Aortic valve... ORPHA:324410
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Prolonged QT interval, Epistaxis, Hypertension ORPHA:251274
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Hypoglycemia OMIM:614736
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Postnatal growth retardation, Small for gestational age, Short stature, Hypoglycemia ORPHA:231137
Combined Oxidative Phosphorylation Deficiency 47
Intrauterine growth retardation, Failure to thrive, Hypoglycemia OMIM:618958
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Tricuspid regurgitatio... OMIM:618652
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Growth delay, Hypoglycemia, Delayed puberty, Failure to thrive, Short stature ORPHA:369
Neuroendocrine Tumor Of Stomach
Cardiogenic shock, Palpitations, Right ventricular failure, Hematemesis, Hypotension, Abnormal pu... ORPHA:100075
Pancytopenia And Occlusive Vascular Disease
Peripheral arterial stenosis OMIM:167850
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Glycerol Kinase Deficiency
Growth delay, Small for gestational age, Short stature, Hypoglycemia OMIM:307030
Atrial Septal Defect, Ostium Primum Type
Palpitations, Right bundle branch block, Atrial flutter, Third heart sound, Atrial fibrillation, ... ORPHA:99106
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pulmonary arterial hypertension, Patent ductus arteriosus, Hypertension OMIM:608406
Jervell And Lange-Nielsen Syndrome
Arrhythmia, Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope ORPHA:90647
Pituitary Adenoma 1, Multiple Types
Cardiomyopathy, Hypertension OMIM:102200
Scrub Typhus
Hypotension, Splenomegaly, Myocarditis ORPHA:83317
Pseudohypoaldosteronism, Type Iic
Hypertension OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hypertension OMIM:614496
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Mitral regurgitation, Atrial septal defect, Ventricular septal defect OMIM:301039
Multisystemic Smooth Muscle Dysfunction Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Vascular dilatation, Hypertension, Thoracic... OMIM:613834
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Hepatomegaly, Congestive heart failure, Cardiomegaly, Hypertrophic ca... OMIM:212140
Exercise-Induced Malignant Hyperthermia
Abnormal pulse pressure, Hypotension, Sinus tachycardia, ST segment depression, Abnormal T-wave, ... ORPHA:466650
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation OMIM:615184
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Anomalous pulmonary venous return, Cardiac conductio... ORPHA:99105
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve OMIM:604381
Mosaic Variegated Aneuploidy Syndrome 2
Ventricular septal defect, Atrial septal defect, Aortic regurgitation, Subvalvular aortic stenosis OMIM:614114
Infantile Sialic Acid Storage Disease
Hepatomegaly, Congestive heart failure, Cardiomegaly, Splenomegaly OMIM:269920
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Coach Syndrome 2
Hypertension OMIM:619111
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Hypoglycemia ORPHA:289504
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Epistaxis, Hypertension ORPHA:404
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Hemochromatosis, Type 1
Arrhythmia, Hepatomegaly, Congestive heart failure, Cardiomegaly, Splenomegaly, Telangiectasia, C... OMIM:235200
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hypoglycemia OMIM:617049
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Intracranial hemorrhage, Epistaxis, Hypertension, Abnormal T-wave ORPHA:231625
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Pulmonary arterial hypertension, Patent ductus arteriosus, Hypertension OMIM:613623
Dysbetalipoproteinemia
Accelerated atherosclerosis, Premature coronary artery atherosclerosis, Angina pectoris, Aortic a... ORPHA:412
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Charge Syndrome
Interrupted aortic arch, Abnormal aortic valve morphology, Patent ductus arteriosus, Tetralogy of... ORPHA:138
Systemic Capillary Leak Syndrome
Hypotension, Arrhythmia, Pericarditis, Myocarditis ORPHA:188
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Medial calcification of medium-sized arteries, Arte... OMIM:177850
Mitochondrial Complex Iv Deficiency, Nuclear Type 7