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Gene: Abcc9 MGI:1352630

Gene Summary

Name:

ATP-binding cassette, sub-family C member 9

Synonyms:

SUR2A, Sur2, SUR2B

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
decreased lymphocyte cell number	Abcc9^em1(IMPC)H	HET	Early adult	2.62×10^-05
increased grip strength	Abcc9^em1(IMPC)H	HET	Early adult	2.89×10^-05
increased neutrophil cell number	Abcc9^em1(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.

Human diseases associated with Abcc9 (8 diseases)
Human diseases predicted to be associated with Abcc9 (1435 diseases)

The table below shows human diseases associated to Abcc9 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Brugada Syndrome	Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F...	ORPHA:130
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
Familial Atrial Fibrillation	Atrial fibrillation, Syncope, Palpitations, Myocardial infarction	ORPHA:334
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy...	ORPHA:154
Cantu Syndrome	Congenital hypertrophy of left ventricle, Cardiomegaly, Bicuspid aortic valve, Pericardial effusi...	OMIM:239850
Cantú Syndrome	Hypertrophic cardiomyopathy, Patent ductus arteriosus, Cardiomegaly, Abnormal heart valve morphology	ORPHA:1517
Atrial Fibrillation, Familial, 12	Paroxysmal atrial fibrillation	OMIM:614050
Intellectual Disability And Myopathy Syndrome	Left ventricular systolic dysfunction	OMIM:619719

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

Disease	Matching phenotypes	Source
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de...	OMIM:612422
Hypertension, Essential	Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure	OMIM:145500
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Brugada Syndrome	Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F...	ORPHA:130
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
Short Stature Due To Partial Ghr Deficiency	Short stature, Delayed puberty, Hypoglycemia, Growth delay	ORPHA:314802
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension	OMIM:615378
Coronary Artery Disease, Autosomal Dominant, 1	Hypertension, Myocardial infarction, Premature coronary artery atherosclerosis	OMIM:608320
Short Stature Due To Ghsr Deficiency	Hypoglycemia, Abnormality of body weight, Decreased body weight, Delayed puberty, Short stature, ...	ORPHA:314811
Intracranial Hypertension, Idiopathic	Hypertension	OMIM:243200
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Severe short stature, Intrauterine growth retardation, Hypoglycemia	OMIM:223500
Abdominal Obesity-Metabolic Syndrome 1	Hypertension	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension	OMIM:605572
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car...	OMIM:604765
Brugada Syndrome 7	Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ...	OMIM:613120
Congenital Left Ventricular Aneurysm	Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave	ORPHA:1055
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Large for gestational age, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Truncal obesity, Hy...	ORPHA:293964
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe...	OMIM:619897
Factor V Excess With Spontaneous Thrombosis	Peripheral arterial stenosis, Pulmonary embolism	OMIM:134400
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:613243
Brugada Syndrome 6	Cardiac arrest, ST segment elevation, Ventricular fibrillation	OMIM:613119
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea...	OMIM:614980
Ethanolaminosis	Cardiomegaly	OMIM:227150
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Dilation of Virchow-Robin spaces, Transient ischemic attack, Stroke, Lacunar stroke, Hypertension	OMIM:616779
Tako-Tsubo Cardiomyopathy	Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,...	ORPHA:66529
Aortic Aneurysm, Familial Thoracic 10	Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Mitral regurgitation, Coro...	OMIM:617168
Pituitary Hormone Deficiency, Combined, 4	Short stature, Severe postnatal growth retardation, Hypoglycemia, Pituitary dwarfism	OMIM:262700
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia	OMIM:614896
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Grange Syndrome	Aortic regurgitation, Arterial stenosis, Hypertension, Patent ductus arteriosus	ORPHA:79094
Brugada Syndrome 8	ST segment elevation, Ventricular tachycardia, Right bundle branch block	OMIM:613123
Glycogen Storage Disease Xv	T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat...	OMIM:613507
Atrial Septal Defect 2	Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def...	OMIM:607941
Familial Aortic Dissection	Aortic regurgitation, Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection...	ORPHA:229
Loeffler Endocarditis	Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co...	ORPHA:75566
Smooth Muscle Dysfunction Syndrome	Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Common caro...	OMIM:613834
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Congestive he...	ORPHA:3400
Brugada Syndrome 5	Bundle branch block, Ventricular fibrillation, ST segment elevation	OMIM:612838
Coronary Artery Disease, Autosomal Dominant 2	Sudden cardiac death, Hypertension, Myocardial infarction, Premature coronary artery atherosclerosis	OMIM:610947
Fixed Subaortic Stenosis	Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Paroxysmal atrial fibrill...	ORPHA:3092
Familial Bicuspid Aortic Valve	Aortic valve stenosis, Hypoplastic left heart, Aortic valve calcification, Aortic regurgitation, ...	ORPHA:402075
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602087
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension	OMIM:166990
Hypoalphalipoproteinemia, Primary, 1	Premature coronary artery atherosclerosis, Myocardial infarction	OMIM:604091
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n...	OMIM:613424
Aortic Aneurysm, Familial Thoracic 4	Aortic regurgitation, Aortic dissection, Anterior cerebral artery stenosis, Coronary artery ather...	OMIM:132900
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:601820
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	Abnormal cerebral vascular morphology, Moyamoya phenomenon, Stroke, Raynaud phenomenon, Hypertension	ORPHA:401945
Polycystic Kidney Disease 7	Hypertension	OMIM:620056
Supravalvular Aortic Stenosis	Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic stenosis, Pulmonic ...	OMIM:185500
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Cardiomyopathy, Familial Hypertrophic, 30, Atrial	Atrial fibrillation, Reduced left ventricular ejection fraction, Atrial flutter, Hypertension	OMIM:620734
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal...	ORPHA:1455
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Short chordae tendineae ...	OMIM:314400
Congenital Heart Defects, Multiple Types, 4	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	OMIM:615779
Preeclampsia/Eclampsia 1	Hypertension	OMIM:189800
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement...	ORPHA:1330
Pheochromocytoma/Paraganglioma Syndrome 6	Hypertension	OMIM:618464
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Short stature, Hypoglycemia	ORPHA:366
Sick Sinus Syndrome 2	Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom...	OMIM:163800
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk...	ORPHA:411593
Familial Cervical Artery Dissection	Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach...	ORPHA:36382
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Maturity-Onset Diabetes Of The Young, Type 10	Maturity-onset diabetes of the young, Hyperglycemia, Intrauterine growth retardation, Diabetes me...	OMIM:613370
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ...	ORPHA:263297
Isolated Growth Hormone Deficiency, Type Ia	Severe short stature, Growth delay, Hypoglycemia	OMIM:262400
Nathalie Syndrome	Abnormal EKG	OMIM:255990
Melorheostosis With Osteopoikilosis	Hypertension	ORPHA:1879
Spastic Paraplegia-Nephritis-Deafness Syndrome	Hypertension	ORPHA:2820
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi...	ORPHA:45453
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Supravalvular Aortic Stenosis	Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart...	ORPHA:3193
Atrial Fibrillation, Familial, 11	Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged...	OMIM:614049
Aortic Aneurysm, Familial Thoracic 6	Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti...	OMIM:611788
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Tricuspid regurgitation, Palpitations, Bicuspid aortic valve, Increased lef...	OMIM:620067
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, Abnormal cerebral artery...	ORPHA:90065
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon...	OMIM:615396
Aortic Aneurysm, Familial Thoracic 7	Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection	OMIM:613780
Sneddon Syndrome	Intracranial hemorrhage, Hypertension, Arterial stenosis	ORPHA:820
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,...	ORPHA:860
Corticosteroid-Binding Globulin Deficiency	Hypotension, Hypertension, Increased muscle fatiguability	OMIM:611489
Trimethylaminuria	Tachycardia, Hypertension	OMIM:602079
Long Qt Syndrome 2	Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric...	OMIM:613688
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:615373
Brachydactyly-Arterial Hypertension Syndrome	Hypertension	ORPHA:1276
Muscular Dystrophy, Becker Type	Arrhythmia, Cardiomyopathy, Abnormal EKG	OMIM:300376
Nail-Patella-Like Renal Disease	Hypertension	ORPHA:2613
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Arterial stenosis, Hypertension, Cerebral artery atherosclerosis, Coronary artery atherosclerosis	ORPHA:1192
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell...	ORPHA:79299
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
Hypertension And Brachydactyly Syndrome	Hypertension	OMIM:112410
Jervell And Lange-Nielsen Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval	OMIM:220400
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert...	OMIM:616501
Aortic Aneurysm, Familial Thoracic 8	Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort...	OMIM:615436
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Arterial stenosis, Carotid artery calcification...	OMIM:208000
Morbid Obesity And Spermatogenic Failure	Premature coronary artery atherosclerosis, Hypertension, Myocardial infarction, Congestive heart ...	OMIM:615703
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Glycogen Storage Disease Vi	Failure to thrive in infancy, Postnatal growth retardation, Hypoglycemia	OMIM:232700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti...	OMIM:613642
Hyperaldosteronism, Familial, Type Iv	Hypertension	OMIM:617027
Cardiogenic Shock	Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail...	ORPHA:97292
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A...	ORPHA:45452
Adenosine Monophosphate Deaminase Deficiency	Exercise-induced muscle fatigue	ORPHA:45
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t...	OMIM:611528
Aortic Valve Disease 2	Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Pa...	OMIM:614823
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q...	OMIM:613980
3-Methylglutaconic Aciduria Type 1	Failure to thrive, Hypoglycemia	ORPHA:67046
Iga Nephropathy, Susceptibility To, 3	Hypertension	OMIM:616818
Congenital Aortic Valve Stenosis	Aortic valve stenosis, Aortic valve calcification, Increased QRS voltage, Abnormal pulse pressure...	ORPHA:3093
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Arrhythmia, Systolic heart murmur, Right ventricular failure, Tricuspid reg...	ORPHA:99103
Sick Sinus Syndrome 4	Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A...	OMIM:619464
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension	ORPHA:1345
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Phosphoribosylpyrophosphate Synthetase Superactivity	Arrhythmia, Hypertension, Abnormal aortic morphology, Cardiomyopathy	ORPHA:3222
Takayasu Arteritis	Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Arterial stenosis, Cerebral ischemi...	ORPHA:3287
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo...	OMIM:618052
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle...	ORPHA:1457
Long Qt Syndrome 10	Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card...	OMIM:611819
Iga Nephropathy, Susceptibility To, 2	Hypertension	OMIM:613944
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Arterial intimal fibrosis, Increased p...	OMIM:178600
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ...	OMIM:612158
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Telangiectases producing 'marbled' skin	OMIM:206570
Focal Segmental Glomerulosclerosis 5	Hypertension	OMIM:613237
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Cystic Hamartoma Of Lung And Kidney	Hypertension	ORPHA:2111
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Muscular Dystrophy, Cardiac Type	Cardiomyopathy, Abnormal EKG	OMIM:309930
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Aortic Aneurysm, Familial Thoracic 9	Thoracic aortic aneurysm, Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection, ...	OMIM:616166
Dimethylglycine Dehydrogenase Deficiency	Increased muscle fatiguability	ORPHA:243343
Long Qt Syndrome 6	Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio...	OMIM:613693
Focal Segmental Glomerulosclerosis 2	Hypertension	OMIM:603965
Familial Cerebral Saccular Aneurysm	Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T...	ORPHA:231160
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hypertension	OMIM:607832
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:609016
Coronary Arterial Fistula	Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria...	ORPHA:2041
Fibromuscular Dysplasia, Arterial	Aortic dissection, Intermittent claudication, Stroke, Renovascular hypertension, Arterial fibromu...	OMIM:135580
Moyamoya Disease 5	Moyamoya phenomenon, Ascending tubular aorta aneurysm	OMIM:614042
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Wolff-Parkinson-White Syndrome	Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR...	OMIM:194200
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd...	OMIM:607554
Erythrocyte Lactate Transporter Defect	Exercise-induced muscle fatigue	OMIM:245340
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Long Qt Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat...	OMIM:192500
Long Qt Syndrome 14	T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca...	OMIM:616247
Cardiomyopathy, Dilated, 1B	Dilated cardiomyopathy, Congestive heart failure, Ventricular arrhythmia, Vascular dilatation, Im...	OMIM:600884
Long Qt Syndrome 16	Second degree atrioventricular block, T-wave alternans, Bradycardia, Patent ductus arteriosus aft...	OMIM:618782
Renal Failure, Progressive, With Hypertension	Hypertension	OMIM:161900
Glomerulopathy With Fibronectin Deposits 2	Hypertension	OMIM:601894
Arterial Calcification, Generalized, Of Infancy, 2	Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ...	OMIM:614473
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T...	OMIM:618654
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Failure to thrive, Hypoglycemia	OMIM:606528
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection	OMIM:617349
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Aortic regurgitation, Mitral regurgitation, Mitral valve prolapse	OMIM:225320
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev...	OMIM:261740
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,...	ORPHA:615
Brugada Syndrome 3	Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi...	OMIM:611875
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Liddle Syndrome	Arrhythmia, Cerebral ischemia, Hypertension	ORPHA:526
Atrial Standstill	Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ...	ORPHA:1344
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic root aneurysm, Abdominal aortic aneurysm, Bicuspid aortic valve, Carotid artery dilatation...	ORPHA:91387
Moyamoya Disease 6 With Or Without Achalasia	Moyamoya phenomenon, Ischemic stroke, Hypertension, Raynaud phenomenon	OMIM:615750
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Severe failure to thrive, Intrauterine growth retardation, ...	OMIM:601410
Aortic Arch Interruption	Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Systolic heart murmur, Aortic...	ORPHA:2299
Periventricular Nodular Heterotopia	Aortic regurgitation, Abnormal heart valve morphology	ORPHA:98892
Hyperinsulinism Due To Hnf1A Deficiency	Maturity-onset diabetes of the young, Large for gestational age, Hyperinsulinemia, Hypoketotic hy...	ORPHA:324575
Moyamoya Disease 1	Telangiectasia, Carotid artery occlusion, Inflammatory arteriopathy	OMIM:252350
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Short stature, Obesity, Growth delay, Fasting hypoglycemia	ORPHA:171706
Familial Partial Lipodystrophy, Köbberling Type	Hypertension, Coronary artery atherosclerosis	ORPHA:79084
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ...	OMIM:614021
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Myopathy, Left bundle branch block, Hepatomegaly, Ven...	OMIM:115197
Dimethylglycine Dehydrogenase Deficiency	Increased muscle fatiguability	OMIM:605850
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Arterial stenosis, Stroke, Cerebra...	ORPHA:136
Glomerulopathy With Fibronectin Deposits 1	Hypertension	OMIM:137950
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Dilatation of the ventricular cavity, Palpitations, Prolonged Q...	OMIM:609040
Congenital Tricuspid Stenosis	Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ...	ORPHA:95459
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification	OMIM:114065
Cardiomyopathy, Dilated, 1U	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613694
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor...	OMIM:615441
Mitochondrial Complex I Deficiency, Nuclear Type 29	Hypertrophic cardiomyopathy, Palpitations, Increased muscle fatiguability, Abnormal heart morphology	OMIM:618250
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Syncope, Pulmon...	ORPHA:422
Aortic Aneurysm, Familial Abdominal, 1	Abdominal aortic aneurysm	OMIM:100070
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Peripheral arterial stenosis, Varicose veins, Patent ductus arteriosus, Sinus bradycardia	OMIM:126320
Jervell And Lange-Nielsen Syndrome 2	Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car...	OMIM:612347
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Coenzyme Q10 Deficiency, Primary, 2	Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation	OMIM:614651
Aortic Valve Disease 3	Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi...	OMIM:618496
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v...	OMIM:608751
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Stroke-like episode, Arrhythmia, Wolff-Parkinson-White syndrome, Abnorm...	OMIM:540000
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Reticular Dysgenesis	Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus	OMIM:267500
Lessel-Kubisch Syndrome	Hypertension	OMIM:618681
Developmental And Epileptic Encephalopathy 18	Aortic regurgitation, Atrial septal defect	OMIM:615476
Tricuspid Atresia	Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s...	ORPHA:1209
Abdominal Obesity-Metabolic Syndrome 4	Accelerated atherosclerosis, Hypertension, Myocardial infarction, Coronary artery atherosclerosis	OMIM:618620
Atrial Septal Defect 4	Coarctation of aorta, Atrial septal defect, Patent foramen ovale	OMIM:611363
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block	ORPHA:871
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ...	OMIM:610193
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c...	ORPHA:101016
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Dilatation of the cerebral artery, Hypertension	OMIM:600666
Iga Nephropathy, Susceptibility To, 1	Hypertension	OMIM:161950
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv...	OMIM:615897
Recessive Mitochondrial Ataxia Syndrome	ST segment elevation	ORPHA:94125
Polycystic Kidney Disease 5	Hypertension	OMIM:617610
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Hyperaldosteronism, Familial, Type Ii	Hypertension	OMIM:605635
Aortic Aneurysm, Familial Thoracic 12	Aortic regurgitation, Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic dissection, A...	OMIM:619825
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Leg muscle stiffness, Cardiomyopathy, Heart block, Foot ...	ORPHA:98912
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Failure to thrive, Hypoglycemia	OMIM:610090
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit...	OMIM:620066
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
Cardiac Arrhythmia, Ankyrin-B-Related	Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death	OMIM:600919
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Lipodystrophy, Familial Partial, Type 1	Hypertension, Prominent superficial veins, Coronary artery atherosclerosis	OMIM:608600
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Bicuspid aortic valve, Renovascular hypertension, Dilated cardiomyopathy	ORPHA:401923
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Pulmonic stenosis, Abnormal EKG	OMIM:178650
Loeys-Dietz Syndrome 2	Aortic root aneurysm, Generalized arterial tortuosity, Abdominal aortic aneurysm, Mitral valve pr...	OMIM:610168
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp...	OMIM:262190
Acquired Von Willebrand Syndrome	Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,...	ORPHA:99147
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicus...	ORPHA:555877
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia...	OMIM:614954
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Hypoglycemia, Postnatal growth retardation, Decreased body weight, Short stature, Neonatal hypogl...	ORPHA:231140
Extracranial Carotid Artery Aneurysm	Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Cerebral ischemi...	ORPHA:494424
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia	OMIM:615158
Neuroendocrine Tumor Of The Colon	Abnormal pulmonary valve cusp morphology, Hypotension, Right ventricular failure, Tricuspid regur...	ORPHA:100080
Marfanoid Habitus With Situs Inversus	Aortic regurgitation, Situs inversus totalis, Pulmonic stenosis, Mitral valve prolapse	OMIM:609008
Long Qt Syndrome 12	Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval	OMIM:612955
Fibronectin Glomerulopathy	Hypertension, Cerebral hemorrhage	ORPHA:84090
Myopathy Due To Myoadenylate Deaminase Deficiency	Increased muscle fatiguability	OMIM:615511
Diarrhea 13	Failure to thrive, Recurrent hypoglycemia	OMIM:620357
Laubry-Pezzi Syndrome	Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Elevated pul...	ORPHA:99094
Mass Syndrome	Ascending aortic dissection, Aortic aneurysm, Mitral valve prolapse	OMIM:604308
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Cardiomegaly, Congestive...	OMIM:614096
Short Qt Syndrome 1	Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud...	OMIM:609620
Hypokalemic Periodic Paralysis	Exercise-induced muscle fatigue, Fatigable weakness of respiratory muscles	ORPHA:681
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertension	ORPHA:71529
Inflammatory Skin And Bowel Disease, Neonatal, 2	Coarctation of aorta, Hypertension	OMIM:616069
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Pulmonary artery atresi...	ORPHA:99050
Danon Disease	Skeletal muscle autophagosome accumulation, Myocardial necrosis, Dilated cardiomyopathy, Generali...	OMIM:300257
3-Methylcrotonyl-Coa Carboxylase Deficiency	Failure to thrive in infancy, Hypoglycemia	ORPHA:6
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Short stature, Growth delay	OMIM:620211
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure	OMIM:300886
Long Qt Syndrome 5	Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P...	OMIM:613695
Coproporphyria, Hereditary	Tachycardia, Hypertension	OMIM:121300
Congenital Heart Defects, Multiple Types, 7	Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao...	OMIM:618780
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re...	ORPHA:99105
Pseudohypoaldosteronism, Type Iia	Hypertension	OMIM:145260
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension	OMIM:605115
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Cardiomyopathy	OMIM:600721
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Atrioventricular Septal Defect, Susceptibility To, 2	Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran...	OMIM:606217
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Zimmermann-Laband Syndrome 1	Aortic root aneurysm, Cardiomyopathy, Aortic arch aneurysm, Splenomegaly, Hepatomegaly, Patent du...	OMIM:135500
Cardiomyopathy, Dilated, 1Kk	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati...	OMIM:615248
Neuroendocrine Tumor Of The Rectum	Hematochezia, Hypotension, Abnormal pulmonary valve cusp morphology, Right ventricular failure, T...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hematochezia, Hypotension, Abnormal pulmonary valve cusp morphology, Right ventricular failure, T...	ORPHA:100082
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Intrauterine growth retardation, Small for gestational age, Hypoglycemia	ORPHA:231147
Obesity Due To Sim1 Deficiency	Hypotension, Postural hypotension with compensatory tachycardia	ORPHA:369873
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Postnatal growth retardation, Hypoglycemia	OMIM:616111
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Heart murmur, Bacterial endocarditis, Congestive heart failure	ORPHA:1054
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Aapoaiv Amyloidosis	Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab...	ORPHA:439232
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Exercise-induced muscle fatigue, Right ventricular dilatation	ORPHA:369847
Lipodystrophy, Familial Partial, Type 4	Stroke, Hypertension	OMIM:613877
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei...	OMIM:613854
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Cerebral berry aneurysm, Hypertension, Mitral regurgitation	OMIM:173900
Scheie Syndrome	Aortic valve stenosis, Aortic regurgitation, Mitral stenosis	OMIM:607016
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Dilated cardiomyopathy, Congestive heart failure, Mitral regurgitation, Dou...	ORPHA:2326
Cardiomyopathy, Dilated, 1V	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef...	OMIM:613697
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia	ORPHA:85447
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Peripheral arterial stenosis, Retinal arteriolar constriction	OMIM:124950
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy, Moyamoya phenomenon, Ischemic stroke, Coronary artery atherosclerosis, Ce...	ORPHA:280679
Cardiomyopathy, Familial Hypertrophic, 26	Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca...	OMIM:617047
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi...	OMIM:264800
Primary Membranoproliferative Glomerulonephritis	Hypertension, Myocardial infarction	ORPHA:54370
Erythrocytosis, Familial, 1	Hypertension, Myocardial infarction, Cerebral hemorrhage	OMIM:133100
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Cerebral hemo...	OMIM:620300
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Atrial Standstill 2	Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri...	OMIM:615745
Short Qt Syndrome 7	Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death	OMIM:620231
Analbuminemia	Hypotension, Patent ductus arteriosus	OMIM:616000
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Increased body weight, Hyperin...	ORPHA:276608
Long Qt Syndrome 8	Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia...	OMIM:618447
Mucolipidosis Type Iii Alpha/Beta	Aortic regurgitation, Right ventricular hypertrophy, Mitral regurgitation, Congestive heart failure	ORPHA:423461
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Abnormal cerebral vascular morphology, A...	ORPHA:758
Multiple Self-Healing Squamous Epithelioma, Susceptibility To	Ascending tubular aorta aneurysm, Arterial tortuosity	OMIM:132800
Scorpion Envenomation	Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu...	ORPHA:466677
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency	Increased muscle fatiguability	OMIM:616323
Peripartum Cardiomyopathy	Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti...	ORPHA:563
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Type I diabetes mellitus, Large for gestational age, Hyperinsulinemia, Hypoketotic hypoglycemia, ...	ORPHA:276580
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Aortic regurgitation	ORPHA:2181
Bronchial Neuroendocrine Tumor	Abnormal pulmonary valve cusp morphology, Hypotension, Cardiogenic shock, Right ventricular failu...	ORPHA:97287
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricul...	OMIM:212138
Pseudohypoaldosteronism Type 2	Hypertension	ORPHA:757
Distal 7Q11.23 Microduplication Syndrome	Aortic aneurysm, Congenital diaphragmatic hernia, Patent ductus arteriosus	ORPHA:261102
Chromosome 5Q12 Deletion Syndrome	Hypotension, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Patent ductus...	OMIM:615668
Denys-Drash Syndrome	Hypertension	ORPHA:220
Sneddon Syndrome	Stroke, Ischemic stroke, Hypertension, Cerebral hemorrhage	OMIM:182410
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Creatine Phosphokinase, Elevated Serum	Increased muscle fatiguability	OMIM:123320
Senior-Loken Syndrome	Hypertension	ORPHA:3156
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia	ORPHA:35878
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Tricuspid regurgitation, Abnormal heart valve morphology, Mitral regurgitat...	ORPHA:230851
Neonatal Hemochromatosis	Hypoglycemia	ORPHA:446
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Long Qt Syndrome 15	Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve...	OMIM:616249
Snakebite Envenomation	Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Stroke, Tachycardia, Intracranial h...	ORPHA:449285
Pure Mitochondrial Myopathy	Exercise-induced muscle fatigue, Fatigable weakness of neck muscles, Fatigable weakness of bulbar...	ORPHA:254854
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Short Qt Syndrome 2	Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde...	OMIM:609621
Cap Myopathy	Aortic root aneurysm, Sinus tachycardia, Mitral valve prolapse, Fatiguable weakness of proximal l...	ORPHA:171881
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa...	OMIM:620135
Long Qt Syndrome 3	Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati...	OMIM:603830
Mucopolysaccharidosis, Type X	Aortic valve stenosis, Aortic regurgitation, Thickened aortic valve cusp, Left ventricular hypert...	OMIM:619698
Hughes-Stovin Syndrome	Vasculitis, Pulmonary artery aneurysm, Pulmonary embolism, Arterial stenosis, Pulmonary arterial ...	ORPHA:228116
Arteriosclerosis, Severe Juvenile	Central retinal vessel vascular tortuosity, Calcification of the aorta, Arteriosclerosis, Hyperte...	OMIM:208060
Hurler-Scheie Syndrome	Aortic regurgitation, Mitral regurgitation, Splenomegaly, Pulmonary arterial hypertension, Hepato...	OMIM:607015
Hyperaldosteronism, Familial, Type I	Hypertension	OMIM:103900
Homozygous Familial Hypercholesterolemia	Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Calcification of the ao...	ORPHA:391665
Methanol Poisoning	Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor...	ORPHA:31825
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation...	OMIM:604772
Amyloidosis, Hereditary Systemic 2	Hypertension	OMIM:105200
Scheie Syndrome	Aortic regurgitation, Hepatomegaly, Splenomegaly	ORPHA:93474
Stormorken Syndrome	Epistaxis, Increased muscle fatiguability, Subarachnoid hemorrhage	OMIM:185070
Antisynthetase Syndrome	Aortic regurgitation, Pulmonary arterial hypertension, Telangiectasia of the skin, Myocarditis	ORPHA:81
Multiple Acyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Congestive heart failure, Exercise-induced muscle fatigue, Abnormal heart morphol...	ORPHA:26791
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Angina pectoris, Premature coronary artery atherosclerosis	ORPHA:140905
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro...	ORPHA:1677
Aa Amyloidosis	Hepatomegaly, Hypotension, Enlarged kidney, Abnormal heart morphology	ORPHA:85445
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Atrioventricular block, Absent P wave, Palpitations, Atrial arrhythmia, First degree atrioventric...	OMIM:310300
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Hypoglycemia	ORPHA:67048
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Hyperglycemia, Glucose intolerance	OMIM:307500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Cutaneous Mastocytoma	Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans	ORPHA:79455
Cardiomyopathy, Dilated, 1S	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Left ventricular n...	OMIM:613426
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Pulmonary hemorrhage	OMIM:603585
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Mitral regurgitation, Ventricular septal defect, Arrhythmia, Atrial septal ...	ORPHA:254346
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Intrauterine growth retardation, Diabetes mellitus, Smal...	OMIM:606176
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Increased muscle fatiguability	OMIM:613077
Mehmo Syndrome	Hypoglycemia, Obesity, Birth length less than 3rd percentile, Delayed puberty, Small for gestatio...	OMIM:300148
Potocki-Shaffer Syndrome	Hypertension	ORPHA:52022
Diabetes Mellitus, Permanent Neonatal, 4	Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis	OMIM:618858
Williams Syndrome	Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Ov...	ORPHA:904
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr...	OMIM:171420
Telangiectasia, Hereditary Benign	Diffuse telangiectasia, Vascular dilatation	OMIM:187260
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology	OMIM:615214
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Postorgasmic Illness Syndrome	Palpitations, Hypertension	ORPHA:279947
Hypoplastic Left Heart Syndrome	Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic...	ORPHA:2248
Brugada Syndrome 1	Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco...	OMIM:601144
Cirrhotic Cardiomyopathy	Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef...	ORPHA:57777
Abdominal Obesity-Metabolic Syndrome 3	Stroke, Hypertension, Myocardial infarction, Coronary artery stenosis	OMIM:615812
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Glycosuria, Failure to thrive, Ketotic hypoglycemia, Short stature	ORPHA:2089
Dengue Fever	Epistaxis, Hypotension, Gastrointestinal hemorrhage, Cerebral hemorrhage, Hepatomegaly	ORPHA:99828
Erythrocytosis, Familial, 2	Hypotension, Cerebral hemorrhage, Stroke, Pulmonary arterial hypertension, Varicose veins	OMIM:263400
Atrial Fibrillation, Familial, 7	Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio...	OMIM:612240
Mucolipidosis Iii Gamma	Aortic valve stenosis, Aortic regurgitation	OMIM:252605
Hutchinson-Gilford Progeria Syndrome	Premature coronary artery atherosclerosis, Congestive heart failure, Angina pectoris, Precocious ...	OMIM:176670
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG	ORPHA:1177
Focal Segmental Glomerulosclerosis 1	Hypertension	OMIM:603278
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Exercise-induced muscle fatigue	ORPHA:2364
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypertension, Congestive heart failure	ORPHA:1349
1P36 Deletion Syndrome	Dilated cardiomyopathy, Abnormal heart valve morphology, Tetralogy of Fallot, Aortic arch aneurys...	ORPHA:1606
Non-Acquired Isolated Growth Hormone Deficiency	Delayed puberty, Abdominal obesity, Short stature, Neonatal hypoglycemia, Growth delay	ORPHA:631
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ...	ORPHA:1329
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P...	ORPHA:1686
2P21 Microdeletion Syndrome	Growth delay, Failure to thrive, Hypoglycemia	ORPHA:163693
Neuroendocrine Tumor Of Stomach	Abnormal pulmonary valve cusp morphology, Hypotension, Cardiogenic shock, Right ventricular failu...	ORPHA:100075
Progressive Familial Heart Block, Type Ia	Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco...	OMIM:113900
Perry Syndrome	Hypotension	ORPHA:178509
Timothy Syndrome	Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car...	OMIM:601005
Turner Syndrome Due To Structural X Chromosome Anomalies	Hypoplastic left heart, Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointes...	ORPHA:99413
Mosaic Monosomy X	Hypoplastic left heart, Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointes...	ORPHA:99228
Monosomy X	Hypoplastic left heart, Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointes...	ORPHA:99226
Turner Syndrome	Hypoplastic left heart, Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointes...	ORPHA:881
Cardiac Septal Defects With Coarctation Of The Aorta	Coarctation of aorta, Perimembranous ventricular septal defect, Secundum atrial septal defect	OMIM:212090
Brugada Syndrome 4	Atrial fibrillation, Syncope, Shortened QT interval	OMIM:611876
Immunodeficiency 105	Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho...	OMIM:619924
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Atrial flutter, Sinoatrial block...	ORPHA:300751
Adult Acute Respiratory Distress Syndrome	Shock, Vasculitis, Hypotension	ORPHA:70578
Mody	Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Intrauterine growth retardation, ...	ORPHA:552
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Glutaric Aciduria Iii	Hypertension	OMIM:231690
Endocardial Fibroelastosis	Hypoglycemia	ORPHA:2022
Glycogen Storage Disease Ixb	Short stature, Growth delay, Hypoglycemia	OMIM:261750
Arterial Tortuosity Syndrome	Dilated cardiomyopathy, Aortic root aneurysm, Aortic dissection, Congestive heart failure, Hypert...	ORPHA:3342
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Short stature, Hypoglycemia	ORPHA:364
Heparin Cofactor Ii Deficiency	Post-angioplasty coronary artery restenosis	OMIM:612356
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:600649
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Hypertension, Patent ductus arteriosus	OMIM:613870
Plin1-Related Familial Partial Lipodystrophy	Hypertension	ORPHA:280356
Cutis Marmorata Telangiectatica Congenita	Telangiectasia, Hypertension	OMIM:219250
X-Linked Hypohidrotic Ectodermal Dysplasia	Hypertension	ORPHA:181
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Type I diabetes mellitus, Large for gestational age, Hypoketotic hypoglycemia, Hyperinsulinemia, ...	ORPHA:276575
Nipah Virus Disease	Hypotension	ORPHA:99825
Nephronophthisis 18	Hypertension	OMIM:615862
Idiopathic Non-Lupus Full-House Nephropathy	Hypertension	ORPHA:567544
Hyperinsulinism Due To Ucp2 Deficiency	Recurrent hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia, Reactive hypoglycemi...	ORPHA:276556
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus	ORPHA:228190
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Maternal dia...	OMIM:616329
Pseudohypoaldosteronism, Type Iib	Hypertension	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hypertension	OMIM:614495
Truncus Arteriosus	Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At...	ORPHA:3384
Liddle Syndrome 2	Hypertension	OMIM:618114
Liddle Syndrome 3	Hypertension	OMIM:618126
Central Hypoventilation Syndrome, Congenital, 3	Episodic hypertension	OMIM:619483
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia	OMIM:615401
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Dopamine Beta-Hydroxylase Deficiency	Orthostatic syncope, Abnormal EKG, Exercise-induced muscle fatigue, Syncope, Orthostatic hypotension	ORPHA:230
Short Chain Acyl-Coa Dehydrogenase Deficiency	Intrauterine growth retardation, Ketotic hypoglycemia, Failure to thrive	ORPHA:26792
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypertension	OMIM:202110
Temple Syndrome	Recurrent hypoglycemia, Postnatal growth retardation, Obesity, Type II diabetes mellitus, Short s...	ORPHA:254516
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ...	ORPHA:99106
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
Jervell And Lange-Nielsen Syndrome	Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval	ORPHA:90647
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se...	OMIM:618652
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Intrauterine growth retardation, Failure to thrive, Hypoglycemia	OMIM:619048
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Hepatosplenomegaly	ORPHA:309288
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic valve stenosis, Aortic regurgitation, Tetralogy of Fallot, Conotruncal defect, Abnormal ca...	ORPHA:96147
Atrial Septal Defect, Coronary Sinus Type	Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack, Palpitatio...	ORPHA:99104
Polyarteritis Nodosa	Hypertension, Raynaud phenomenon, Cardiomyopathy, Pericarditis	ORPHA:767
Ganglioneuroma	Gastrointestinal hemorrhage, Hypertension	ORPHA:251992
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension	ORPHA:251274
Congenital Heart Defects, Multiple Types, 9	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:620294
Brugada Syndrome 2	Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation...	OMIM:611777
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec...	OMIM:619371
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Unbalanced atrioventricular canal defect, Thoracic aortic aneurysm, Dextrotransposition of the gr...	OMIM:619657
Mucolipidosis Type Ii	Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Hepatosplenomeg...	ORPHA:576
Systemic Capillary Leak Syndrome	Myocarditis, Hypotension, Arrhythmia, Pericarditis	ORPHA:188
Alagille Syndrome 2	Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Hypertension, Pulmonic stenosis	OMIM:610205
Transaldolase Deficiency	Biventricular hypertrophy, Hepatosplenomegaly, Telangiectasia, Coarctation of aorta, Atrial septa...	ORPHA:101028
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension	ORPHA:231625
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm...	OMIM:619051
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypertension	OMIM:201910
Familial Hyperaldosteronism Type Ii	Epistaxis, Intracranial hemorrhage, Hypertension	ORPHA:404
Grange Syndrome	Renovascular hypertension, Renal artery stenosis, Coronary artery stenosis, Carotid artery stenosis	OMIM:602531
Scrub Typhus	Myocarditis, Hypotension, Splenomegaly	ORPHA:83317
Propionic Acidemia	Hypoglycemia	ORPHA:35
Familial Hyperaldosteronism Type I	Epistaxis, Intracranial hemorrhage, Hypertension	ORPHA:403
Temtamy Syndrome	Aortic regurgitation	OMIM:218340
Combined Oxidative Phosphorylation Deficiency 36	Failure to thrive, Hypoglycemia	OMIM:617950
Gitelman Syndrome	Prominent U wave, Abnormal T-wave, Palpitations, ST segment depression, Syncope, Raynaud phenomen...	ORPHA:358
Systemic Lupus Erythematosus 17	Raynaud phenomenon, Hypertensive crisis, Mitral regurgitation	OMIM:301080
Pituitary Adenoma 1, Multiple Types	Hypertension, Cardiomyopathy	OMIM:102200
Arterial Tortuosity Syndrome	Aortic valve stenosis, Aortic regurgitation, Ventricular hypertrophy, Ischemic stroke, Telangiect...	OMIM:208050
Absence Of The Pulmonary Artery	Atrial flutter, Abnormal coronary artery morphology, Congestive heart failure, Abnormal heart mor...	ORPHA:980
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Severely reduced left ventricular ejection fraction, Cardiomyopathy, Hepato...	OMIM:252600
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Glycogen Storage Disease Due To Acid Maltase Deficiency	Vasculitis, Basilar artery calcification, Hypertrophic cardiomyopathy, Dilatation of the cerebral...	ORPHA:365
Liddle Syndrome 1	Hypertension	OMIM:177200
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi...	ORPHA:555874
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure	OMIM:269920
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Failure to thrive, Hypoglycemia, Delayed puberty, Short stature, Growth delay	ORPHA:369
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Hypertension	OMIM:618061
Combined Oxidative Phosphorylation Deficiency 34	Failure to thrive, Hypoglycemia	OMIM:617872
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ...	ORPHA:324410
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus	OMIM:604381
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Short stature, Postnatal growth retardation, Small for gestational age, Hypoglycemia	ORPHA:231137
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology	OMIM:601612
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai...	ORPHA:1478
Heterotaxy, Visceral, 8, Autosomal	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:617205
Narcolepsy Type 1	Syncope, Hypertension	ORPHA:2073
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Failure to thrive, Hypoglycemia, Postnatal growth retardation, Intrauterine g...	ORPHA:73272
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Stroke-li...	OMIM:300845
Coenzyme Q10 Deficiency, Primary, 8	Hypertension	OMIM:616733
Pheochromocytoma	Congestive heart failure, Positive regitine blocking test, Renal artery stenosis, Episodic hypert...	OMIM:171300
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Congestive heart failure	OMIM:123700
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly	OMIM:619064
Noonan Syndrome 14	Aortic regurgitation, Pulmonic stenosis, Hypertrophic cardiomyopathy, Mitral valve prolapse	OMIM:619745
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Medial calc...	OMIM:177850
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Mitral regurgitation, Aortic root aneurysm, Atrial septal defect, Ventricular septal defect	OMIM:301039
Pseudohypoaldosteronism, Type Iie	Hypertension	OMIM:614496
Non-Functioning Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:94080
Coach Syndrome 2	Hypertension	OMIM:619111
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hemolytic an...	ORPHA:444463
Double Outlet Left Ventricle	Abnormal coronary artery course, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valv...	ORPHA:3427
Isobutyryl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia	ORPHA:79159
Infant Acute Respiratory Distress Syndrome	Tachycardia, Hypotension, Cardiac arrest, Bradycardia	ORPHA:70587
Dysbetalipoproteinemia	Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Angina pectoris, Type I...	ORPHA:412
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho...	ORPHA:330001
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardiomegaly, Persistent left su...	OMIM:620642
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Riboflavin Deficiency	Hypoglycemia	OMIM:615026
Hurler Syndrome	Aortic regurgitation, Cardiomyopathy, Hepatosplenomegaly, Endocardial fibroelastosis, Mitral regu...	OMIM:607014
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Exercise-Induced Malignant Hyperthermia	Hypotension, Abnormal pulse pressure, Sinus tachycardia, Abnormal T-wave, ST segment depression, ...	ORPHA:466650
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul...	OMIM:619178
Scimitar Syndrome	Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar...	ORPHA:185
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia	OMIM:619164
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Ornithine Transcarbamylase Deficiency	Hypoglycemia	ORPHA:664
Glycogen Storage Disease Iii	Short stature, Hypoglycemia	OMIM:232400
Combined Oxidative Phosphorylation Deficiency 47	Intrauterine growth retardation, Failure to thrive, Hypoglycemia	OMIM:618958
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocardial fibroelastosis...	OMIM:212140
Combined Malonic And Methylmalonic Acidemia	Failure to thrive, Hypoglycemia	ORPHA:289504
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Mitral valve prolapse, Pulmonar...	OMIM:175050
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Hemochromatosis, Type 1	Cardiomyopathy, Congestive heart failure, Splenomegaly, Cardiomegaly, Telangiectasia, Arrhythmia,...	OMIM:235200
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Subvalvular aortic stenosis, Atrial septal defect, Ventricular septal defect	OMIM:614114
Nephroblastoma	Hypertension	ORPHA:654
Glycogen Storage Disease Ixc	Hypoglycemia, Postnatal growth retardation, Growth delay, Fasting hypoglycemia	OMIM:613027
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Small for gestational age, Hypoglycemia	OMIM:615160
Mitochondrial Pyruvate Carrier Deficiency	Hypoglycemia	OMIM:614741
Apparent Mineralocorticoid Excess	Hypertension	OMIM:218030
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hepatomegaly	ORPHA:159
Isolated Ectopia Lentis	Hypertension	ORPHA:1885
Neuraminidase Deficiency	Cardiomyopathy, Cherry red spot of the macula, Splenomegaly, Cardiomegaly, Hepatomegaly, Bone-mar...	OMIM:256550
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Hypertrophic cardiomyopathy,...	OMIM:255160
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hypotension	ORPHA:91354
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Distal amyotrophy, Abnormal heart morphology, Foot dorsiflexor weakness, Patent foramen ovale, Ve...	ORPHA:477817
Charge Syndrome	Interrupted aortic arch, Tetralogy of Fallot, Aortic arch aneurysm, Abnormal aortic valve morphol...	ORPHA:138
Cryoglobulinemia, Familial Mixed	Hypertension	OMIM:123550
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,...	OMIM:619702
Meningococcal Meningitis	Shock, Hypotension, Stroke	ORPHA:33475
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:615285
Hemochromatosis, Neonatal	Intrauterine growth retardation, Hypoglycemia	OMIM:231100
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Second degree atrioventricular block, Overriding aorta, Pulmonary arterial hypertension, Hyperten...	OMIM:617021
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Hypotension	OMIM:145600
Silver-Russell Syndrome 2	Short stature, Intrauterine growth retardation, Neonatal hypoglycemia	OMIM:618905
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Igg4-Related Aortitis	Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, Th...	ORPHA:449400
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Gastrointestinal hemorrhage, Abnormal cerebral vascular morphology, Conges...	ORPHA:363705
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Facial telangiectasia, Cerebral art...	OMIM:600376
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept...	OMIM:620609
Multicentric Carpotarsal Osteolysis Syndrome	Hypertension	OMIM:166300
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Congestive heart failure, A...	ORPHA:363618
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:610006
Legionnaires Disease	Hypotension, Splenomegaly, Arrhythmia, Myocarditis, Endocarditis, Pericarditis	ORPHA:549
Lipodystrophy, Familial Partial, Type 6	Hypertension	OMIM:615980
Lipodystrophy, Familial Partial, Type 5	Hypertension	OMIM:615238
Rhabdoid Tumor	Hypertension, Internal hemorrhage	ORPHA:69077
Paroxysmal Hemicrania	Hypertension	ORPHA:157835
Inhalational Anthrax	Hypotension, Internal hemorrhage	ORPHA:247257
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Bradycardia	OMIM:614702
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Vertebral artery aneurysm, Arterial tortuosity, Dilatation of the cerebr...	OMIM:619656
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Hypotension, Gastrointestinal hemorrhage	ORPHA:79456
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus ...	OMIM:601927
Familial Thrombocytosis	Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hypertension, Syncope, Periphera...	ORPHA:71493
Preeclampsia	Elevated diastolic blood pressure, Elevated systolic blood pressure, Hypertension	ORPHA:275555
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension	ORPHA:35708
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o...	OMIM:217095
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Carotid paraganglioma, Hypertension associated with pheochromocytoma	OMIM:168000
Necrotizing Enterocolitis	Shock, Hypotension, Abnormal heart morphology, Bradycardia	ORPHA:391673
Refsum Disease, Classic	Cardiomegaly, Arrhythmia, Cardiomyopathy, Congestive heart failure	OMIM:266500
Juvenile Paget Disease	Hypertension	ORPHA:2801
Late-Onset Familial Hypoaldosteronism	Hypotension, Orthostatic hypotension	ORPHA:556037
Alopecia Universalis	Hypertension	ORPHA:701
Xp21 Deletion Syndrome	Increased muscle fatiguability	ORPHA:261476
Ochoa Syndrome	Hypertension	ORPHA:2704
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Exercise-induced muscle fatigue	ORPHA:713
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitation...	OMIM:252500
Glycogen Storage Disease Vii	Exercise-induced muscle fatigue	OMIM:232800
Pparg-Related Familial Partial Lipodystrophy	Prominent veins on trunk, Atherosclerosis, Hypertrophic cardiomyopathy, Congestive heart failure,...	ORPHA:79083
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Short stature, Intrauterine growth retardation, Hypoglycemia	ORPHA:48431
Blue Diaper Syndrome	Increased body weight, Increased proinsulin:insulin ratio, Recurrent hypoglycemia	ORPHA:94086
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Tricuspid regurgitation, Hepatosplenomegaly, Mitral regurgitation, Splenome...	OMIM:614866
Glucocorticoid Resistance, Generalized	Hypertension	OMIM:615962
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Cardi...	OMIM:300280
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Glycogen Storage Disease Ixa1	Growth delay, Hypoglycemia	OMIM:306000
Stiff Skin Syndrome	Hypertension	ORPHA:2833
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hypotension	OMIM:620125
Whipple Disease	Gastrointestinal hemorrhage, Hypotension, Splenomegaly, Myocarditis, Hepatomegaly, Myocardial inf...	ORPHA:3452
Ciliary Dyskinesia, Primary, 40	Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t...	OMIM:618300
Hydroxykynureninuria	Tachycardia, Hypotension	ORPHA:79155
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Transient ischemic attack, Stroke, Carotid artery stenosis, Arteriosclerosis of small cerebral ar...	OMIM:600142
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Short stature, Hypoglycemia	OMIM:618120
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Hypotension, Hepatosplenomegaly, Portal hypertension	ORPHA:98850
Early-Onset Familial Hypoaldosteronism	Hypotension, Orthostatic hypotension	ORPHA:556030
Distal Duplication 14Q	Patent ductus arteriosus, Abnormal aortic morphology	ORPHA:1705
Heterotaxy, Visceral, 5, Autosomal	Total anomalous pulmonary venous return, Atrial reentry tachycardia, Atrioventricular canal defec...	OMIM:270100
Apolipoprotein A-I Deficiency	Angina pectoris, Premature coronary artery atherosclerosis, Atherosclerosis	ORPHA:425
Riboflavin Transporter Deficiency	Hypertension	ORPHA:97229
Familial Pseudohyperkalemia	Hypertension	ORPHA:90044
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo...	OMIM:614470
Corticosterone Methyloxidase Type I Deficiency	Hypotension	OMIM:203400
Polyendocrine-Polyneuropathy Syndrome	Short stature, Postnatal growth retardation, Type I diabetes mellitus, Hypoglycemia	OMIM:616113
Mulibrey Nanism	Congestive heart failure, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis	OMIM:253250
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hypotension	OMIM:264350
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Fatigable weakness, Fatigable weakness of neck muscles, Cardiomegaly, Arrhythmia, Hepatomegaly	ORPHA:42
Muscular Dystrophy, Duchenne Type	Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Arrhythmia	OMIM:310200
Gaisböck Syndrome	Elevated diastolic blood pressure, Coronary artery atherosclerosis, Stroke, Angina pectoris, Peri...	ORPHA:90041
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Capillary leak,...	ORPHA:542323
Pseudo-Torch Syndrome 3	Cardiomegaly, Hypertension, Cerebral hemorrhage	OMIM:618886
Tatton-Brown-Rahman Syndrome	Aortic root aneurysm, Tricuspid regurgitation, Mitral regurgitation, Supraventricular tachycardia...	ORPHA:404443
Diamond-Blackfan Anemia 21	Aortic regurgitation, Secundum atrial septal defect	OMIM:620072
C3 Glomerulopathy	Hypertension	ORPHA:329918
Congenital Enterovirus Infection	Myocarditis, Hypotension, Pericardial effusion, Cardiomyopathy	ORPHA:292
Dihydrolipoamide Dehydrogenase Deficiency	Hypoglycemia	OMIM:246900
Genitopalatocardiac Syndrome	Right aortic arch, Transposition of the great arteries, Double outlet right ventricle, Ventricula...	OMIM:231060
Congenital Contractural Arachnodactyly	Congenital contracture, Camptodactyly of finger, Mitral valve prolapse, Aortic aneurysm, Flexion ...	ORPHA:115
Hypoalphalipoproteinemia, Primary, 2	Premature coronary artery atherosclerosis	OMIM:618463
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D...	OMIM:619846
Pseudohypoaldosteronism, Type Iic	Hypertension	OMIM:614492
Phace Association	Arterial stenosis, Ventricular septal defect, Coarctation of aorta, Aortic aneurysm, Anomalous br...	OMIM:606519
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Post-Traumatic Pituitary Deficiency	Hypotension	ORPHA:95619
Immunodeficiency 95	Lymphopenia	OMIM:619773
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia	OMIM:620137
Colchicine Poisoning	Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Hypovolemia	ORPHA:31824
Laron Syndrome	Severe short stature, Hypoglycemia, Delayed puberty, Truncal obesity	ORPHA:633
Hsd10 Mitochondrial Disease	Hypoglycemia	OMIM:300438
Structural Heart Defects And Renal Anomalies Syndrome	Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Ventricular ...	OMIM:617478
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Hypoglycemia	OMIM:618838
Fanconi Renotubular Syndrome 5	Hypertension	OMIM:618913
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc...	ORPHA:268
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Sitosterolemia 2	Premature coronary artery atherosclerosis	OMIM:618666
Hunter-Macdonald Syndrome	Aortic regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicuspid aortic valve, Hyperte...	OMIM:611962
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho...	OMIM:108950
Lipodystrophy, Familial Partial, Type 3	Hypertension, Prominent superficial veins	OMIM:604367
Cutis Laxa, Autosomal Dominant 3	Aortic regurgitation	OMIM:616603
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoketotic hypoglycemia, Failure to thrive, Hypoglycemia	ORPHA:5
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Obesity, Reactive hypoglycemia	OMIM:600955
Enthesitis-Related Juvenile Idiopathic Arthritis	Aortic regurgitation, Dilatation of the ventricular cavity, Mitral valve prolapse, Abnormal heart...	ORPHA:85438
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Pulmonary arterial hypertension, Hypertension, Vascular dilatation	OMIM:613320
Mercury Poisoning	Tachycardia, Hypotension, Hypertension	ORPHA:330021
Heterotaxy, Visceral, 4, Autosomal	Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ...	OMIM:613751
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Second degree atrioventricular block, Pulmonary arterial hypertension, Intracranial he...	ORPHA:369929
Heterotaxy, Visceral, 6, Autosomal	Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana...	OMIM:614779
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ...	OMIM:610338
Fabry Disease	Congestive heart failure, Transient ischemic attack, Angina pectoris, Arrhythmia, Hypertension, M...	OMIM:301500
Isotretinoin-Like Syndrome	Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,...	ORPHA:2306
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Polyendocrine-Polyneuropathy Syndrome	Postnatal growth retardation, Hypoinsulinemia, Type II diabetes mellitus, Hypoglycemia	ORPHA:453533
Primary Unilateral Adrenal Hyperplasia	Epistaxis, Palpitations, Hypertension	ORPHA:231580
Idiopathic Pulmonary Hemosiderosis	Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Heart murmur	ORPHA:99931
Stiff-Person Syndrome	Tachycardia, Hypertension	OMIM:184850
Syndromic Diarrhea	Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Splenomegaly, Ventricular s...	ORPHA:84064
Congenital Isolated Acth Deficiency	Hypotension	ORPHA:199296
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia	OMIM:618241
Fragile X Syndrome	Mitral valve prolapse, Ascending tubular aorta aneurysm	ORPHA:908
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia	OMIM:619170
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Ventricular septal defect	OMIM:609460
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Absence of the pulmonary valve, Congestive heart failure, Ventricular sept...	OMIM:601808
Developmental And Epileptic Encephalopathy 111	Pulmonary artery stenosis, Premature ventricular contraction, Hypertension, Sinus tachycardia	OMIM:620504
Behçet Disease	Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ische...	ORPHA:117
Temtamy Syndrome	Aortic aneurysm	ORPHA:1777
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly	OMIM:252920
Insulinoma	Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsulinemia, Reactive hypoglycemia, Increa...	ORPHA:97279
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Arterial dissection, Abnormal venous morphology, Decreased muscle mass, Congestive heart failure,...	ORPHA:1900
Acute Radiation Syndrome	Telangiectasia, Hypotension	ORPHA:454831
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hypotension	OMIM:177735
Malonyl-Coa Decarboxylase Deficiency	Short stature, Hypoglycemia	OMIM:248360
Tetanus	Tachycardia, Hypertension, Bradycardia	ORPHA:3299
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Aortic regurgitation, Abnormal cardiac septum morphology, Mitral atresia	ORPHA:140952
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Glycosuria, Hypoglycemia, Large for gestational age, Short stature, Diabetes mellitus	OMIM:616026
Cocaine Intoxication	Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Prolonged QRS complex, Ischemic stro...	ORPHA:90068
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Multiple muscular ventricular septal defects, Aortic aneurysm, Limb hypertonia, Atrial septal def...	OMIM:620070
Gaucher Disease, Type Iiic	Aortic valve calcification, Calcification of the aorta, Splenomegaly, Mitral stenosis, Cardiomega...	OMIM:231005
Relapsing Fever	Tachycardia, Hypotension, Epistaxis	ORPHA:91547
Holt-Oram Syndrome	Hypoplastic left heart, Atrioventricular block, Atrioventricular canal defect, Paroxysmal atrial ...	ORPHA:392
Ileal Neuroendocrine Tumor	Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Arrh...	ORPHA:100078
Galactokinase Deficiency	Hypoglycemia, Hyperinsulinemia, Small for gestational age, Failure to thrive	ORPHA:79237
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy, Tricuspid regurgitation, Right ventricular dilatation, Wolff-Parkins...	OMIM:619705
Acth-Independent Macronodular Adrenal Hyperplasia 2	Hypertension	OMIM:615954
Nephronophthisis 2	Pulmonary insufficiency, Hypertension	OMIM:602088
Autoimmune Hypoparathyroidism	Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval, Coronary arter...	ORPHA:36913
Thyrotoxic Periodic Paralysis	Second degree atrioventricular block, Exercise-induced muscle fatigue, Palpitations, Shortened PR...	ORPHA:79102
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Failure to thrive, Hypoglycemia	OMIM:614739
Contractural Arachnodactyly, Congenital	Aortic root aneurysm, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Bic...	OMIM:121050
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Arrhythmia	OMIM:106300
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertension	ORPHA:363400
Heterotaxy, Visceral, 7, Autosomal	Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu...	OMIM:616749
Andersen-Tawil Syndrome	Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab...	ORPHA:37553
Pituitary Stalk Interruption Syndrome	Short stature, Delayed puberty, Failure to thrive, Hypoglycemia	ORPHA:95496
2P15P16.1 Microdeletion Syndrome	Aortic regurgitation, Mitral regurgitation	ORPHA:261349
Pyruvate Dehydrogenase E3 Deficiency	Failure to thrive, Hypoglycemia	ORPHA:2394
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Coarctation of abdominal aorta, Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy	OMIM:226100
Tangier Disease	Coronary artery atherosclerosis, Myocardial infarction, Atherosclerosis	OMIM:205400
Renal Hypodysplasia/Aplasia 1	Hypertension	OMIM:191830
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Tetralogy of Fallot, Splenomegaly, Ventricular septal defect, Hepatomegaly,...	OMIM:222470
Renal Tubular Dysgenesis	Hypotension	OMIM:267430
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hypogl...	ORPHA:79644
Ectopic Aldosterone-Producing Tumor	Epistaxis, Hypertension	ORPHA:231632
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Hypoglycemia, Intrauterine growth retardation, Proportionate short stature, Decreased body weight...	ORPHA:391408
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Pyridoxine-Dependent Epilepsy	Hypoglycemia	ORPHA:3006
Infant Botulism	Cardiac arrest, Hypotension, Hypertension	ORPHA:178478
Heme Oxygenase 1 Deficiency	Epistaxis, Diffuse alveolar hemorrhage, Hypertension	OMIM:614034
Morgagni-Stewart-Morel Syndrome	Hypertension	ORPHA:77296
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defec...	OMIM:607721
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Neutropenia, Monocytosis	ORPHA:2688
Glucocorticoid Deficiency 1	Failure to thrive, Recurrent hypoglycemia	OMIM:202200
Staphylococcal Necrotizing Pneumonia	Shock, Hypotension	ORPHA:36238
Pyruvate Carboxylase Deficiency	Hypoglycemia	OMIM:266150
Hyperaldosteronism, Familial, Type Iii	Hypertension	OMIM:613677
Familial Hypoaldosteronism	Hypotension, Orthostatic hypotension, Hypovolemia	ORPHA:427
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Truncus arteriosus, Atrial septal defect, Ventricular septal defect	ORPHA:261330
Neonatal Marfan Syndrome	Abnormal cardiac ventricle morphology, Aortic root aneurysm, Tricuspid regurgitation, Mitral regu...	ORPHA:284979
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Intrauterine growth retardation, Growth delay, Failure to thrive, Hypoglycemia	OMIM:245400
Cutis Laxa, Autosomal Recessive, Type Ia	Aortic regurgitation, Supravalvular aortic stenosis	OMIM:219100
Gaucher Disease, Type I	Aortic valve stenosis, Epistaxis, Mitral regurgitation, Pulmonary arterial hypertension, Hyperten...	OMIM:230800
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Le...	OMIM:306955
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hypertension, Aortic root aneurysm, Mitral valve prolapse	ORPHA:449291
Glycogen Storage Disease Ii	Firm muscles, Sinus tachycardia, Dilatation of the cerebral artery, Limb muscle weakness, Splenom...	OMIM:232300
Apparent Mineralocorticoid Excess	Stroke, Hypertension	ORPHA:320
Intellectual Developmental Disorder, Autosomal Dominant 66	Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi...	OMIM:619910
Criss-Cross Heart	Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep...	ORPHA:1461
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Glycosuria, Large for gestational age, Hyperinsulinemia, Hypoketotic hypoglycemia, Increased body...	ORPHA:263455
Monosomy 18Q	Aortic valve stenosis, Secundum atrial septal defect, Absence of the pulmonary valve, Congestive ...	ORPHA:1600
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypotension, Hypertension	ORPHA:134
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Failure to thrive, Hypoglycemia	OMIM:614736
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia	OMIM:619386
Pyridoxal Phosphate-Responsive Seizures	Failure to thrive, Hypoglycemia	ORPHA:79096
Myofibrillar Myopathy 10	Increased QRS voltage, Prolonged QTc interval	OMIM:619040
Autosomal Dominant Polycystic Kidney Disease	Aortic root aneurysm, Dilatation of the cerebral artery, Mitral valve prolapse, Abnormal systemic...	ORPHA:730
Familial Atrial Fibrillation	Atrial fibrillation, Syncope, Palpitations, Myocardial infarction	ORPHA:334
Pigmented Nodular Adrenocortical Disease, Primary, 4	Hypertension	OMIM:615830
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Hypertension	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Hypertension	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Hypertension	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Hypertension	OMIM:612926
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Mitral regurgitation, Atrial septal defect, Vascular ring, Ventricular septal defect	OMIM:603387
Polycythemia Vera	Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Budd-Chiari syndrome, Portal hyperten...	ORPHA:729
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Growth delay, Failure to thrive, Hypoglycemia	OMIM:615453
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
Giant Cell Arteritis	Vasculitis, Epistaxis, Aortic dissection, Double outlet right ventricle with subpulmonary ventric...	ORPHA:397
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hypoglycemia, Impaired gluconeogenesis, Fasting hypoglycemia	OMIM:261680
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hypertrophic cardiomyopathy, Shortened PR interval, Cardiomegaly, Left ventricular hypertrophy, L...	ORPHA:308552
Hypotrichosis And Recurrent Skin Vesicles	Abnormal EKG	OMIM:613102
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ven...	ORPHA:508498
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Cardiomegaly, Hepatomega...	OMIM:201475
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Cardiomyopathy, Punctate vasculitis skin lesions, Telangiectasia, Re...	ORPHA:247691
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Loeys-Dietz Syndrome 4	Aortic root aneurysm, Aortic dissection, Arterial tortuosity, Dilatation of the cerebral artery, ...	OMIM:614816
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Aortic regurgitation, Ventricular hypertrophy, Aortic valve calcification,...	ORPHA:740
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Short stature, Fasting hypoglycemia	ORPHA:436174
Pde4D Haploinsufficiency Syndrome	Hypotension	ORPHA:439822
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect	ORPHA:3405
Right Atrial Isomerism	Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr...	OMIM:208530
Familial Glucocorticoid Deficiency	Hypertrophic cardiomyopathy, Hypotension	ORPHA:361
Alport Syndrome 2, Autosomal Recessive	Hypertension	OMIM:203780
Double Outlet Right Ventricle	Hypoplastic left heart, Pulmonary artery atresia, Tetralogy of Fallot, Heart murmur, Truncus arte...	ORPHA:3426
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen...	OMIM:618986
Cirrhosis, Familial	Pulmonary arterial hypertension, Hypertension	OMIM:215600
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypertension, Pulmonary arterial hypertension, Second degree atrioventricular block	OMIM:615474
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic valve stenosis, Aortic regurgitation, Ventricular hypertrophy, Tricuspid regurgitation, Mi...	OMIM:143095
Combined Oxidative Phosphorylation Deficiency 33	Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiac arrest	OMIM:617713
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Poliomyelitis	Hypovolemic shock, Hypotension, Hypertension, Fatigable weakness of respiratory muscles	ORPHA:2912
Frasier Syndrome	Hypertension	ORPHA:347
Insulin-Resistance Syndrome Type B	Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ...	ORPHA:2298
Pituitary Hormone Deficiency, Combined, 6	Short stature, Neonatal hypoglycemia, Hypoglycemia	OMIM:613986
Multiple Endocrine Neoplasia, Type Iia	Palpitations, Hypertension	OMIM:171400
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Aortic regurgitation, Ventricular septal defect	ORPHA:464311
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly, Co...	OMIM:614921
Cog8-Cdg	Failure to thrive, Hypoglycemia	ORPHA:95428
Nephronophthisis 1	Hypertension	OMIM:256100
Hypoadrenocorticism, Familial	Hypoglycemia	OMIM:240200
Cholera	Stroke, Tachycardia, Hypotension, Hypovolemic shock	ORPHA:173
Hennekam-Beemer Syndrome	Hypotension, Arrhythmia, Telangiectasia of the skin	ORPHA:2135
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Pituitary Hormone Deficiency, Combined, 2	Short stature, Hypoglycemic seizures, Neonatal hypoglycemia	OMIM:262600
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Hemothorax, Hemoperi...	ORPHA:99827
Cogan Syndrome	Aortic regurgitation, Vasculitis, Large vessel vasculitis	ORPHA:1467
Adenine Phosphoribosyltransferase Deficiency	Atrial fibrillation, Hypertension	ORPHA:976
Sepsis In Premature Infants	Hypotension, Splenomegaly, Bradycardia, Hepatomegaly, Tachycardia	ORPHA:90051
Friedreich Ataxia	Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure	OMIM:229300
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Cardiac arrest, Hypotension, Dilated cardiomyopathy	ORPHA:20
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia	ORPHA:2151
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Hypertension	OMIM:612925
Werner Syndrome	Abnormal cerebral vascular morphology, Atherosclerosis, Congestive heart failure, Pulmonary arter...	ORPHA:902
Glycogen Storage Disease Ixd	Hypoglycemia	OMIM:300559
Neuroendocrine Neoplasm Of Appendix	Hypotension, Palpitations, Hepatomegaly, Heart murmur, Tricuspid stenosis	ORPHA:100079
16P13.11 Microduplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ...	ORPHA:261243
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitat...	OMIM:613795
Serotonin Syndrome	Tachycardia, Hypotension, Hypertension	ORPHA:43116
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Aortic root aneurysm, Pulmonary artery dilatation, Vascular tortuosity...	OMIM:614437
Bacterial Toxic-Shock Syndrome	Hypotension, Shock, Myocarditis, Tachycardia, Capillary leak	ORPHA:36234
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Subvalvular aortic stenosis, Atrial septal defect	ORPHA:1052
Lysosomal Acid Lipase Deficiency	Hypotension, Hepatosplenomegaly, Coronary artery atherosclerosis, Stroke, Pulmonary arterial hype...	ORPHA:275761
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hypotension, Splenomegaly, Syncope, Hepatomegaly, Tachycardia	ORPHA:98849
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Atrioventricular canal defect, Tricuspid regurgitation, Abnormal aortic valve morphology, Bicuspi...	ORPHA:1120
Livedoid Vasculopathy	Ischemic stroke, Venous insufficiency, Telangiectasia of the skin, Varicose veins, Abnormal capil...	ORPHA:542643
Lujo Hemorrhagic Fever	Hypotension, Shock, Bradycardia, Myocarditis, Subconjunctival hemorrhage	ORPHA:319213
Sickle Cell Disease	Splenomegaly, Cardiomegaly, Stroke, Hepatomegaly, Hypertension	OMIM:603903
Mitochondrial Complex I Deficiency, Nuclear Type 33	Intrauterine growth retardation, Small for gestational age, Hypoglycemia	OMIM:618253
Reactive Arthritis	Aortic regurgitation, Pericarditis	ORPHA:29207
Dextrocardia	T-wave inversion, Congenital malformation of the great arteries, Abnormality of the pulmonary art...	ORPHA:1666
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Transient ischemic attack, Hyp...	ORPHA:183
Sandhoff Disease	Cherry red spot of the macula, Hepatosplenomegaly, Cardiomegaly, Orthostatic hypotension, Hepatom...	OMIM:268800
Cardiac Valvular Dysplasia 1	Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p...	OMIM:212093
Marfan Syndrome	Aortic regurgitation, Mitral annular calcification, Congestive heart failure, Tricuspid regurgita...	OMIM:154700
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Premature coronary artery atherosclerosis	OMIM:620058
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Coarctation of aorta, Atrioventricular block, Hypertension, Double outlet right ventricle	ORPHA:371428
Monosomy 18P	Hypertension	ORPHA:1598
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Hypoketotic hypoglycemia, Growth delay	OMIM:231530
Sporadic Pheochromocytoma/Secreting Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:276621
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Aortic regurgitation, Ventricular septal defect	ORPHA:464306
3-Methylglutaconic Aciduria, Type V	Dilated cardiomyopathy, Congestive heart failure, Noncompaction cardiomyopathy, Prolonged QT inte...	OMIM:610198
Seckel Syndrome 10	Ventricular hypertrophy, Abdominal aortic aneurysm, Hypertension, Congestive heart failure	OMIM:617253
Infantile Liver Failure Syndrome 2	Hypoglycemia	OMIM:616483
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy...	ORPHA:154
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Recurrent hypoglycemia, Intrauterine growth retardation, Delayed puberty, Short stature, Growth d...	OMIM:616817
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Hypertension	OMIM:617763
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly	ORPHA:858
Primary Triglyceride Deposit Cardiomyovasculopathy	Cardiomyopathy, Coronary artery stenosis, Palpitations, Renal artery atherosclerosis, Coronary ar...	ORPHA:565612
Marfan Syndrome	Aortic regurgitation, Arterial dissection, Aortic root aneurysm, Aortic dissection, Pulmonary art...	ORPHA:558
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De...	ORPHA:99125
Alg3-Cdg	Cardiomyopathy, Coarctation of the descending aortic arch	ORPHA:79321
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Hypertensive crisis, Pulmonary arterial hypertension, Congestive hear...	ORPHA:220393
Autosomal Dominant Hypocalcemia	Hypotension, Arrhythmia, Fatigable weakness, Congestive heart failure	ORPHA:428
Donohue Syndrome	Postprandial hyperglycemia, Hyperglycemia, Postnatal growth retardation, Intrauterine growth reta...	OMIM:246200
Porphyria, Acute Intermittent	Tachycardia, Hypertension	OMIM:176000
Schimke Immuno-Osseous Dysplasia	Congestive heart failure, Atherosclerosis, Transient ischemic attack, Ischemic stroke, Cerebral i...	ORPHA:1830
Pediatric-Onset Graves Disease	Sinus tachycardia, Congestive heart failure, Palpitations, Atrial fibrillation, Hypertension	ORPHA:525731
Acth Deficiency, Isolated	Fasting hypoglycemia	OMIM:201400
Hyperoxaluria, Primary, Type I	Atrioventricular block, Arterial occlusion, Intermittent claudication, Raynaud phenomenon, Periph...	OMIM:259900
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va...	ORPHA:284169
Familial Partial Lipodystrophy, Dunnigan Type	Hypertrophic cardiomyopathy, Coronary artery atherosclerosis, Atherosclerosis, Congestive heart f...	ORPHA:2348
Hemochromatosis, Type 3	Anemia, Lymphopenia, Neutropenia	OMIM:604250
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Neonatal hypoglycemia, Failure to thrive	OMIM:619046
Silver-Russell Syndrome Due To A Point Mutation	Postnatal growth retardation, Intrauterine growth retardation, Small for gestational age, Hypogly...	ORPHA:397590
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular...	ORPHA:1166
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Failure to thrive, Hypoglycemia	OMIM:210200
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil...	OMIM:226990
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Neutropenia	OMIM:620443
Acth-Independent Macronodular Adrenal Hyperplasia	Hypertension	OMIM:219080
Cutis Laxa, Autosomal Recessive, Type Iic	Aortic regurgitation, Biventricular hypertrophy, Tricuspid regurgitation, Mitral valve prolapse, ...	OMIM:617402
Coach Syndrome 1	Hypertension, Portal hypertension, Vascular dilatation	OMIM:216360
Hypotonia-Cystinuria Syndrome	Postnatal growth retardation, Neonatal hypoglycemia, Failure to thrive	OMIM:606407
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Hepatosplenomegaly, Mitral regurgitation	ORPHA:309282
Houge-Janssens Syndrome 1	Intrauterine growth retardation, Hypoglycemia	OMIM:616355
Congenital Sialidosis Type 2	Telangiectasia, Cherry red spot of the macula, Abnormal EKG	ORPHA:93400
Ethylene Glycol Poisoning	Hypotension, Congestive heart failure, Shock, Prolonged QT interval, Atrial fibrillation, Tachyca...	ORPHA:31826
Pigmented Nodular Adrenocortical Disease, Primary, 2	Hypertension	OMIM:610475
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic cardiomyopathy, Tricuspi...	OMIM:617506
Cutis Marmorata Telangiectatica Congenita	Arterial stenosis, Telangiectasia of the skin, Arteriovenous malformation, Patent ductus arteriosus	ORPHA:1556
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Arrhythmia, Cardiomegaly	OMIM:255120
Boudin-Mortier Syndrome	Aortic root aneurysm, Mitral valve prolapse	OMIM:619543
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Cardiomyopathy, Congestive heart failure	OMIM:619259
Primary Progressive Freezing Gait	Hypertension	ORPHA:75567
Amyloidosis, Hereditary Systemic 1	Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Stroke-like episode, Cardiomy...	OMIM:105210
Lethal Acantholytic Erosive Disorder	Impaired myocardial contractility, Hypovolemic shock, Cardiomegaly, Cardiomyopathy	ORPHA:158687
Immunodeficiency 44	Lymphopenia	OMIM:616636
Transaldolase Deficiency	Hepatosplenomegaly, Splenomegaly, Patent foramen ovale, Ventricular septal defect, Telangiectasia...	OMIM:606003
Ciliary Dyskinesia, Primary, 37	Right aortic arch, Situs inversus totalis, Dextrocardia	OMIM:617577
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Glycosuria, Failure to thrive, Fasting hypoglycemia, Growth delay, Im...	ORPHA:2088
Solitary Fibrous Tumor	Hypoinsulinemia, Weight loss, Hypoglycemia, Recurrent hypoglycemia	ORPHA:2126
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Tricu...	OMIM:601776
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Bidirectional shunt, Thoracic aortic aneurysm, Elevated pulmonary artery pressure, Patent ductus ...	OMIM:619351
Acute Adrenal Insufficiency	Hypotension, Stroke, Orthostatic hypotension, Myocardial infarction, Hypovolemia	ORPHA:95409
Simple Cryoglobulinemia	Vasculitis, Gastrointestinal hemorrhage, Congestive heart failure, Stroke, Raynaud phenomenon, Hy...	ORPHA:91139
Hemorrhagic Fever-Renal Syndrome	Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Hematemesis, Internal he...	ORPHA:340
Cerebellar-Facial-Dental Syndrome	Ascending tubular aorta aneurysm, Abnormal T-wave, Mitral valve prolapse, Ventricular septal defect	ORPHA:444072
Alagille Syndrome	Peripheral pulmonary artery stenosis, Telangiectasia of the skin, Hypertension	ORPHA:52
Ectopia Lentis 1, Isolated, Autosomal Dominant	Aortic root aneurysm, Mitral valve prolapse	OMIM:129600
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Arrhythmia, Hypertension	ORPHA:139411
Hellp Syndrome	Hypotension, Internal hemorrhage, Cerebral hemorrhage	ORPHA:244242
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hypertension, Aortic root aneurysm, Mitral valve prolapse	OMIM:616914
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypertension	OMIM:613095
20Q13.33 Microdeletion Syndrome	Abnormal cardiac ventricle morphology, Hematochezia, Dilation of Virchow-Robin spaces, Atrial sep...	ORPHA:261311
Combined Oxidative Phosphorylation Deficiency 40	Intrauterine growth retardation, Hypoglycemia	OMIM:618835
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypotension, Pulmonary arterial hypertension, Bradycardia, Hepatomegaly, Tachycardia, Cardiac arrest	OMIM:277400
Combined Oxidative Phosphorylation Deficiency 42	Intrauterine growth retardation, Hypoglycemia	OMIM:618839
Schimke Immunoosseous Dysplasia	Transient ischemic attack, Cerebral ischemia, Stroke, Pulmonary arterial hypertension, Arterioscl...	OMIM:242900
Cholestasis, Progressive Familial Intrahepatic, 5	Failure to thrive, Hypoglycemia	OMIM:617049
Immunodeficiency 67	Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell...	OMIM:607676
Propionic Acidemia	Short stature, Failure to thrive, Hypoglycemia	OMIM:606054
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pulmonary lymphangiectasi...	OMIM:265380
X Small Rings	Bicuspid aortic valve, Aortic root aneurysm, Mitral stenosis, Ventricular septal defect	ORPHA:96201
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia	ORPHA:79280
Silver-Russell Syndrome 1	Intrauterine growth retardation, Small for gestational age, Fasting hypoglycemia	OMIM:180860
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatosplenomegaly, Facial telangiectasia, Splenomegaly, Mitral valve prolapse, Ventricular septa...	OMIM:602782
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Congestive heart failure, Portal hypertension, Splenomegaly, Cardiomegaly, Arrhyt...	ORPHA:465508
Cantu Syndrome	Congenital hypertrophy of left ventricle, Cardiomegaly, Bicuspid aortic valve, Pericardial effusi...	OMIM:239850
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Nestor-Guillermo Progeria Syndrome	Sinus tachycardia, Atherosclerosis, Mitral regurgitation, Right bundle branch block, Pulmonary ar...	OMIM:614008
Cutis Laxa, Autosomal Recessive, Type Iid	Congestive heart failure, Hypertrophic cardiomyopathy, Right bundle branch block, Atrial septal d...	OMIM:617403
Al Amyloidosis	Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Abnormal EKG, Hy...	ORPHA:85443
Alkaptonuria	Aortic valve stenosis, Aortic valve calcification, Atherosclerosis, Abnormal heart valve morpholo...	ORPHA:56
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Aortic regurgitation, Abnormal heart morphology, Abnormal pulmonary valve ...	ORPHA:268261
Yuan-Harel-Lupski Syndrome	Bicuspid aortic valve, Double outlet right ventricle, Aortic root aneurysm, Ventricular septal de...	OMIM:616652
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development	Right aortic arch with mirror image branching	OMIM:107500
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta, Facial palsy	OMIM:107550
Smith-Kingsmore Syndrome	Rhizomelia, Large for gestational age, Hypoglycemia	OMIM:616638
Congenital Tracheomalacia	Abnormal pulmonary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Right aorti...	ORPHA:95430
Kawasaki Disease	Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul...	ORPHA:2331
Noonan Syndrome 9	Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect	OMIM:616559
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Abnormal aortic arch morphology, Overriding aorta, Arteriovenous malformation	ORPHA:1110
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Dilatation of the ventricular cavity, Mitral regurgitation, Congestive hear...	ORPHA:90348
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Intrauterine growth retardation, Hypoglycemia	OMIM:617710
Carnitine Palmitoyl Transferase 1A Deficiency	Hypoglycemia	ORPHA:156
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Tachycardia, Hypertension, Orthostatic hypotension	OMIM:223900
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Failure to thrive, Fasting hyperinsulinemia, Intrauterine growth retardation, Hypoketotic hypogly...	ORPHA:71212
Nephronophthisis-Like Nephropathy 1	Hypertension	OMIM:613159
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Abnormal heart morphology, Mitral regurgitation, Left ventricular hypertrop...	ORPHA:284984
Methylcobalamin Deficiency Type Cble	Hypertension	ORPHA:2169
Neuroblastoma, Susceptibility To, 1	Hypertension	OMIM:256700
Classic Galactosemia	Delayed puberty, Hypoglycemia	ORPHA:79239
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Athe...	ORPHA:280365
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Ventricula...	OMIM:620025
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension	OMIM:608643
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension	OMIM:614424
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Bradycardia, Tachycardia, Hyper...	ORPHA:94093
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Hypertension	OMIM:619758
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Arrhythmia, Stroke, Abnormal EKG	ORPHA:480864
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita...	ORPHA:70591
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, T lymphocytopenia, B lymphocytopenia	ORPHA:277
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect	OMIM:617616
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Ascending tubular aorta aneurysm, Atrial septal defect, Ventricular septal defect	OMIM:309520
Glucocorticoid Deficiency 2	Hypoglycemia, Recurrent hypoglycemia	OMIM:607398
Overlap Myositis	Pulmonary arterial hypertension, Hypertension, Raynaud phenomenon	ORPHA:206572
8P23.1 Microdeletion Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ...	ORPHA:251071
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aortic regurgitation, Bidirectional shunt, Common atrium, Unbalanced atrioventricular canal defec...	OMIM:619534
Chromosome 6Q24-Q25 Deletion Syndrome	Tricuspid regurgitation, Mitral valve prolapse, Dysplastic tricuspid valve, Persistent fetal circ...	OMIM:612863
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Congestive heart failure, Ventricular septal defect, Bicuspid aortic valve,...	OMIM:619475
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Failure to thrive, Hypoglycemia, Postnatal growth retardation, Intrauterine growth retardation, S...	OMIM:617093
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect	OMIM:616897
Intellectual Developmental Disorder, Autosomal Dominant 45	Slender build, Neonatal hypoglycemia	OMIM:617600
Zttk Syndrome	Aortic regurgitation, Atrial septal defect, Ventricular septal defect	OMIM:617140
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased...	OMIM:619510
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Hemolytic anemia, Thrombocytopenia	OMIM:616744
Loeys-Dietz Syndrome 5	Aortic root aneurysm, Mitral regurgitation, Patent foramen ovale, Ventricular septal defect, Atri...	OMIM:615582
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Heart Block, Congenital	Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria...	OMIM:234700
Acquired Generalized Lipodystrophy	Abnormal cardiovascular system physiology, Hypertension, Cardiomyopathy	ORPHA:79086
Silver-Russell Syndrome	Insulin resistance, Recurrent hypoglycemia, Failure to thrive in infancy, Postnatal growth retard...	ORPHA:813
Bachmann-Bupp Syndrome	Large for gestational age, Hypoglycemia	OMIM:619075
Koolen-De Vries Syndrome	Aortic root aneurysm, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pat...	OMIM:610443
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Ascending tubular aorta aneurysm, S...	OMIM:620376
Late-Onset Isolated Acth Deficiency	Hypotension, Orthostatic hypotension	ORPHA:199299
Turnpenny-Fry Syndrome	Aortic regurgitation, Tricuspid valve prolapse, Atrial septal defect, Mitral valve prolapse	OMIM:618371
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Hypotension, Hypertension	OMIM:174000
Cantú Syndrome	Hypertrophic cardiomyopathy, Patent ductus arteriosus, Cardiomegaly, Abnormal heart valve morphology	ORPHA:1517
Fabry Disease	Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc...	ORPHA:324
Pituitary Apoplexy	Hypotension, Hypertension	ORPHA:95613
Combined Oxidative Phosphorylation Deficiency 15	Hypertension, Wolff-Parkinson-White syndrome, Shortened PR interval	OMIM:614947
Phaver Syndrome	Pulmonary artery atresia, Hypoplastic aortic arch, Coarctation of aorta, Ventricular septal defect	ORPHA:2876
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Abnormal cerebral vascular morphology, Arterial stenosis, Stroke, Vascular dilatation, Patent duc...	ORPHA:2637
Gitelman Syndrome	Prolonged QT interval, Hypotension, Palpitations, Ventricular tachycardia	OMIM:263800
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu...	ORPHA:486
Glutaric Acidemia I	Failure to thrive, Hypoglycemia	OMIM:231670
Lateral Meningocele Syndrome	Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, Patent ...	OMIM:130720
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Failure to thrive, Hypoglycemia, Intrauterine growth retardation, Neonatal hypoglycemia, Small fo...	OMIM:619055
Hereditary Pheochromocytoma-Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:29072
Menkes Disease	Gastrointestinal hemorrhage, Arterial stenosis, Venous insufficiency, Vascular dilatation, Intrac...	ORPHA:565
Pseudohypoparathyroidism Type 2	Prolonged QT interval	ORPHA:94090
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Adrenocortical Carcinoma	Palpitations, Hypertension	ORPHA:1501
Teebi Hypertelorism Syndrome 1	Aortic root aneurysm, Atrial septal defect, Ventricular septal defect	OMIM:145420
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P...	OMIM:300835
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Ventricular hypertrophy, Aortic root aneurysm, Ventricular septal defect, Bicuspid aortic valve, ...	OMIM:620654
Rin2 Syndrome	Aortic aneurysm	ORPHA:217335
Ehlers-Danlos Syndrome, Classic-Like, 2	Carotid artery stenosis, Aortic root aneurysm, Prominent superficial veins, Mitral valve prolapse	OMIM:618000
Alkaptonuria	Aortic valve calcification, Thickened Achilles tendon, Aortic aneurysm, Mitral valve calcificatio...	OMIM:203500
Von Hippel-Lindau Disease	Cardiomyopathy, Palpitations, Stroke, Arrhythmia, Myocarditis, Abnormal left ventricular function...	ORPHA:892
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Intrauterine growth retardation, Hypoglycemia	OMIM:620275
Acute Interstitial Pneumonia	Hypertension	ORPHA:79126
Birk-Landau-Perez Syndrome	Hypertension	OMIM:617595
Pigmented Nodular Adrenocortical Disease, Primary, 1	Hypertension	OMIM:610489
22Q11.2 Duplication Syndrome	Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Ventricular septal defect, ...	ORPHA:1727
Bannayan-Riley-Ruvalcaba Syndrome	Arteriovenous malformation, Telangiectasia, Angina pectoris, Aortic aneurysm, Intracranial hemorr...	ORPHA:109
Aica-Ribosiduria Due To Atic Deficiency	Hypoglycemia	OMIM:608688
Osteogenesis Imperfecta, Type I	Aortic aneurysm, Mitral valve prolapse	OMIM:166200
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hypoglycemia	OMIM:201450
D-Glyceric Aciduria	Growth delay, Failure to thrive, Hypoglycemia	OMIM:220120
Porphyria Variegata	Tachycardia, Hypertension	ORPHA:79473
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Cardiomegaly	OMIM:620306
Renal Hypoplasia	Hypertension	ORPHA:93101
Alexander Disease	Hypertension, Hypotension, Sudden cardiac death	ORPHA:58
Methimazole Embryofetopathy	Coarctation of aorta, Abnormal aortic morphology, Ventricular septal defect	ORPHA:1923
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic val...	OMIM:612474
Neonatal Lupus Erythematosus	Atrioventricular block, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node ori...	ORPHA:398124
Caudal Regression Syndrome	Hypertension	ORPHA:3027
Pancreatic And Cerebellar Agenesis	Failure to thrive, Hypoglycemia, Hyperglycemia, Severe intrauterine growth retardation, Diabetes ...	OMIM:609069
Maple Syrup Urine Disease, Type Ia	Hypoglycemia	OMIM:248600
Ehlers-Danlos Syndrome, Classic Type, 1	Aortic root aneurysm, Mitral valve prolapse	OMIM:130000
Rett Syndrome	Prolonged QTc interval, Abnormal T-wave	OMIM:312750
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hypotension	ORPHA:90791
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia	OMIM:614653
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Hypoglycemia	OMIM:251000
Fragile X-Associated Tremor/Ataxia Syndrome	Hypotension, Hypertension	ORPHA:93256
Meacham Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Right aortic arch, Ventricular sep...	OMIM:608978
Paget Disease Of Bone 6	Coronary artery atherosclerosis	OMIM:616833
Alport Syndrome	Aortic aneurysm, Renal glomerular foam cells, Hypertension, Abnormal aortic morphology	ORPHA:63
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy, Arrhythmia, Hypertension	OMIM:614052
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect	ORPHA:2516
Wagro Syndrome	Hypertension	OMIM:612469
Paternal Uniparental Disomy Of Chromosome 1	Hypertension	ORPHA:251004
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Camptodactyly of finger, Abnormal aortic valve morphology, Aortic aneury...	ORPHA:2990
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia	OMIM:207731
Non-Functioning Pituitary Adenoma	Hypotension	ORPHA:91349
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal heart morphology, Atrioventricular canal defect, Ventricular septal defect, Bicuspid aor...	ORPHA:453499
Lymphangiectasia, Intestinal	Lymphopenia	OMIM:152800
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Aortic root aneurysm, Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic ...	OMIM:245600
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Gastrointestinal hemorrhage, Pulmonary embolism, Arteriovenous malformation, Cerebral ischemia, I...	ORPHA:394
Tsh-Secreting Pituitary Adenoma	Hypotension, Congestive heart failure, Ventricular arrhythmia, Palpitations, Supraventricular arr...	ORPHA:91347
Low Phospholipid-Associated Cholelithiasis	Hypertension	ORPHA:69663
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Hypoplastic left heart, Patent ductus arteriosus, Abnormal aortic morphology	ORPHA:2001
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia	OMIM:619767
Familial Dysautonomia	Tachycardia, Hypertension, Orthostatic hypotension	ORPHA:1764
Spondyloenchondrodysplasia	Vasculitis, Hypertension, Raynaud phenomenon	ORPHA:1855
Congenital Heart Defects And Skeletal Malformations Syndrome	Coarctation of aorta, Aortic root aneurysm, Atrial septal defect, Ventricular septal defect	OMIM:617602
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Short stature, Intrauterine growth retardation, Failure to thrive, Hypoglycemia	OMIM:618005
Tetrasomy 15Q26	Hypoplastic aortic arch, Atrial septal defect, Patent ductus arteriosus	OMIM:614846
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval	OMIM:615351
Leptospirosis	Hypotension, Pulmonary hemorrhage, Hepatomegaly, Arrhythmia, First degree atrioventricular block,...	ORPHA:509
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Failure to thrive, Hypoglycemia, Increased body weight, Delayed puberty, Fasting hypoglycemia, Sh...	ORPHA:264580
Cockayne Syndrome Type 3	Vascular calcification, Aortic root aneurysm, Subdural hemorrhage, Cardiomyopathy, Premature coro...	ORPHA:90324
Immunodeficiency 23	Aortic root aneurysm, Vasculitis in the skin	OMIM:615816
Autosomal Dominant Dopa-Responsive Dystonia	Hypertension	ORPHA:98808
Congenital Disorder Of Glycosylation, Type Ig	Hypoglycemia, Rhizomelia, Small for gestational age, Failure to thrive	OMIM:607143
Osteogenesis Imperfecta	Aortic regurgitation, Abnormal endocardium morphology, Mitral valve prolapse, Cerebral hemorrhage	ORPHA:666
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Aortic root aneurysm, Mitral valve prolapse, Stroke, Thoracic aortic aneurysm, Ascending tubular ...	ORPHA:536467
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	ORPHA:348
Mucopolysaccharidosis Type 2, Severe Form	Cardiomyopathy, Abnormal aortic morphology, Arrhythmia, Peripheral arterial stenosis, Heart murmu...	ORPHA:217085
Hereditary Angioedema Type 1	Hypotension	ORPHA:100050
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hypertension	OMIM:235400
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hypertension, Portal hypertension, Hematemesis	OMIM:263200
Cardiac-Urogenital Syndrome	Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Biventricular hypert...	OMIM:618280
Epidermal Nevus Syndrome	Aortic aneurysm, Rhabdomyosarcoma, Weakness of long finger extensor muscles	ORPHA:35125
Renal Agenesis	Hypertension	ORPHA:411709
Combined Oxidative Phosphorylation Deficiency 59	Ketotic hypoglycemia, Failure to thrive	OMIM:620646
Marburg Hemorrhagic Fever	Hypotension, Subconjunctival hemorrhage, Shock, Capillary leak, Internal hemorrhage, Bradycardia,...	ORPHA:99826
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Right aortic arch with mirror image branching, Tetralogy of Fallot, Trun...	OMIM:601186
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro...	ORPHA:3226
Lipodystrophy, Familial Partial, Type 2	Hypertension, Prominent superficial veins, Atherosclerosis	OMIM:151660
Fliedner-Zweier Syndrome	Bicuspid aortic valve, Hypoplastic aortic arch, Ventricular septal defect	OMIM:620511
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia	OMIM:229700
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce...	ORPHA:331206
Mucopolysaccharidosis Type 2, Attenuated Form	Cardiomyopathy, Abnormal aortic morphology, Arrhythmia, Peripheral arterial stenosis, Heart murmu...	ORPHA:217093
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Ventricular septal defect, Cardiomegaly, Overridi...	OMIM:617022
Alport Syndrome 1, X-Linked	Hypertension	OMIM:301050
Pituitary Adenoma 4, Acth-Secreting	Hypertension	OMIM:219090
Viss Syndrome	Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Mitral valve prolapse, V...	OMIM:619472
Immunodeficiency, Common Variable, 10	Hypoglycemia	OMIM:615577
Aicardi-Goutieres Syndrome 9	Hypertension, Portal hypertension, Increased blood pressure, Pericarditis	OMIM:619487
Renal Hypoplasia, Bilateral	Hypertension	ORPHA:97362
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypoglycemia	OMIM:611126
Bartter Syndrome, Type 3	Hypotension	OMIM:607364
Shashi-Pena Syndrome	Intrauterine growth retardation, Hypoglycemia	OMIM:617190
Galloway-Mowat Syndrome 3	Coarctation of aorta, Hypertension	OMIM:617729
Loeys-Dietz Syndrome	Arterial dissection, Aortic dissection, Camptodactyly of finger, Arterial tortuosity, Aortic aneu...	ORPHA:60030
Meester-Loeys Syndrome	Pulmonary artery aneurysm, Aortic root aneurysm, Aortic dissection, Dilatation of the cerebral ar...	OMIM:300989
Oligomeganephronia	Hypertension, Pulmonary venous occlusion	ORPHA:2260
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Dilated cardiomyopathy, Cardiomegaly, Arrhythmia, Hepatomegaly, Antenatal intracerebral hemorrhag...	OMIM:608836
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Recurrent hypoglycemia, Postnatal growth retardation, Increased body weight, Ketotic hypoglycemia...	ORPHA:79240
Prolactinoma	Hypotension	ORPHA:2965
Mitochondrial Trifunctional Protein Deficiency 1	Hypoketotic hypoglycemia, Small for gestational age, Failure to thrive	OMIM:609015
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of...	OMIM:242700
Mucopolysaccharidosis Type 2	Cardiomyopathy, Abnormal aortic morphology, Arrhythmia, Peripheral arterial stenosis, Hypertension	ORPHA:580
Aicardi-Goutières Syndrome	Hypertrophic cardiomyopathy, Moyamoya phenomenon, Hepatosplenomegaly, Calcification of the aorta,...	ORPHA:51
Isolated Complex I Deficiency	Intrauterine growth retardation, Diabetes mellitus, Failure to thrive, Hypoglycemia	ORPHA:2609
Noonan Syndrome 10	Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular septal defect, M...	OMIM:616564
Glycogen Storage Disease Ia	Hypoglycemia, Delayed puberty, Fasting hypoglycemia, Short stature, Growth delay	OMIM:232200
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Hypertension, Congestive heart failure	ORPHA:85450
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Vasculitis, Dilated cardiomyopathy, Portal hypertension, Stroke, Raynaud phenomenon, Renal artery...	OMIM:615688
Distal Deletion 15Q	Hypoplastic left heart, Abnormal aortic arch morphology, Double outlet right ventricle with doubl...	ORPHA:1596
Rabson-Mendenhall Syndrome	Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Fasting hype...	ORPHA:769
Igg4-Related Retroperitoneal Fibrosis	Budd-Chiari syndrome, Large vessel vasculitis, Renovascular hypertension, Hypertension	ORPHA:49041
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Situs inv...	ORPHA:3097
Mirage Syndrome	Short stature, Intrauterine growth retardation, Hypoglycemia, Decreased body weight	OMIM:617053
Senior-Boichis Syndrome	Hypertension, Carotid artery dilatation, Portal hypertension	ORPHA:84081
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin...	OMIM:187300
Posterior Urethral Valve	Hypertension	ORPHA:93110
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hypertension	ORPHA:1555
Alport Syndrome 3A, Autosomal Dominant	Hypertension	OMIM:104200
Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Abnormal heart valve morphology, Prominent scalp veins, Atrial septal defe...	ORPHA:536471
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hypotension	ORPHA:293978
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal myocardium morphology, Hepatomegaly, Heart block	ORPHA:228308
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity, Neonatal hypoglycemia	OMIM:608624
Reni Syndrome	Hypoglycemia	OMIM:617575
Basilicata-Akhtar Syndrome	Neonatal hypoglycemia	OMIM:301032
Macs Syndrome	Aortic aneurysm, Dilation of Virchow-Robin spaces	OMIM:613075
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Subdural hemorrhage, Arterial rupture, Myopathy, Bicuspid aortic valve, ...	ORPHA:536545
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Failure to thrive, Hypoglycemia	OMIM:210210
Atypical Werner Syndrome	Aortic valve stenosis, Abnormal cerebral vascular morphology, Congestive heart failure, Abnormali...	ORPHA:79474
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Intracranial hemorrhage, Hypertension	ORPHA:90795
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Hypoglycemia	OMIM:251110
Phace Syndrome	Aortic root aneurysm, Abnormal heart morphology, Tetralogy of Fallot, Abnormal cerebral artery mo...	ORPHA:42775
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hypoglycemia	OMIM:605911
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Mucosal telangiectasiae	ORPHA:2463
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu...	ORPHA:261183
Xfe Progeroid Syndrome	Hypertension	OMIM:610965
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia	OMIM:619752
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Peripheral pulmonary artery stenosis, Aortic root aneurysm, Patent foramen ovale, Patent ductus a...	ORPHA:280633
Vascular Ehlers-Danlos Syndrome	Arterial dissection, Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric v...	ORPHA:286
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Intrauterine growth retardation, Hypoglycemia	OMIM:619355
Lead Poisoning	Hypertension	ORPHA:330015
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Right ventricular hypertrophy, Right ventricular dilatation	OMIM:253700
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypertension, Pulmonary embolism	ORPHA:567546
Diabetic Embryopathy	Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular...	ORPHA:1926
Neuroblastoma	Hypertension	ORPHA:635
Granulomatosis With Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Cerebral ischemia, Hypertension, Angina pecto...	ORPHA:900
Xq21 Microdeletion Syndrome	Renal artery stenosis, Hypertension	ORPHA:1435
Loeys-Dietz Syndrome 1	Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Arterial tor...	OMIM:609192
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hypotension, Hypovolemia	ORPHA:168558
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Renal artery stenosis, Hypertension	OMIM:617913
Shprintzen-Goldberg Craniosynostosis Syndrome	Camptodactyly, Aortic aneurysm, Joint contracture of the hand, Mitral valve prolapse	OMIM:182212
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Large for gestational age, Neonatal hypoglycemia	ORPHA:457485
Congenital Disorder Of Glycosylation, Type Iie	Failure to thrive, Hypoglycemia, Intrauterine growth retardation, Short stature, Growth delay	OMIM:608779
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hypotension, Hypovolemia	ORPHA:289548
Immunodeficiency 10	Hypoglycemia	OMIM:612783
Heart Defects, Congenital, And Other Congenital Anomalies	Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Tetralogy...	OMIM:600001
Generalized Glucocorticoid Resistance Syndrome	Stroke, Hypertension	ORPHA:786
Tenorio Syndrome	Hypoinsulinemia, Hypoglycemia	OMIM:616260
3P25.3 Microdeletion Syndrome	Patent ductus arteriosus, Pulmonic stenosis, Coronary artery atherosclerosis	ORPHA:435638
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Glycogen Storage Disease Ic	Spider hemangioma, Pulmonary arterial hypertension, Hypertension	OMIM:232240
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Congenital diaphragmatic hernia, Ventricular septal defect, Aortic aneurys...	ORPHA:96121
Combined Oxidative Phosphorylation Deficiency 37	Failure to thrive, Hypoglycemia	OMIM:618329
Opitz Gbbb Syndrome	Aortic root aneurysm, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect,...	ORPHA:2745
Congenital Disorder Of Glycosylation, Type Im	Hypoketotic hypoglycemia, Failure to thrive	OMIM:610768
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypertension	OMIM:612780
Von Hippel-Lindau Syndrome	Hypertension	OMIM:193300
Classical Ehlers-Danlos Syndrome	Arterial dissection, Aortic root aneurysm, Dilatation of the cerebral artery, Arterial rupture, M...	ORPHA:287
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Eosinophilia	ORPHA:169160
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Aortic root aneurysm, Congestive heart failure, Abnormal heart morphology, Patent foramen ovale, ...	ORPHA:444077
Hurler Syndrome	Angina pectoris, Hypertension, Cardiomyopathy	ORPHA:93473
Encephalocraniocutaneous Lipomatosis	Aortic valve stenosis, Interrupted aortic arch, Abnormal aortic morphology, Tricuspid valve prola...	ORPHA:2396
Pgm3-Cdg	Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous abscess, Lymphopenia, Leukop...	ORPHA:443811
Fryns Syndrome	Tetralogy of Fallot, Abnormal aortic arch morphology, Abnormal aortic morphology, Abnormal cardia...	ORPHA:2059
Nelson Syndrome	Intracranial hemorrhage, Hypertension	ORPHA:199244
Multiple Acyl-Coa Dehydrogenase Deficiency	Glycosuria, Hypoglycemia	OMIM:231680
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Glycosuria, Failure to thrive, Postnatal growth retardation, Fasting ...	OMIM:227810
Plague	Hypotension, Splenomegaly, Arrhythmia, Hematemesis, Hepatomegaly, Tachycardia, Endocarditis	ORPHA:707
Adams-Oliver Syndrome 1	Aortic valve stenosis, Tetralogy of Fallot, Pulmonary artery stenosis, Pulmonary arterial hyperte...	OMIM:100300
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Growth delay, Failure to thrive, Hypoglycemia	OMIM:251880
Distal Triplication 15Q	Abnormal heart morphology, Hypoplastic aortic arch, Atrial septal defect, Patent ductus arteriosus	ORPHA:314588
Classical-Like Ehlers-Danlos Syndrome Type 2	Aortic root aneurysm, Prominent veins on trunk, Mitral valve prolapse, Carotid artery stenosis, V...	ORPHA:536532
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect	OMIM:217085
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia, Failure to thrive	ORPHA:99901
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia	OMIM:301110
Postinfectious Vasculitis	Cardiomyopathy, Cerebral vasculitis, Ischemic stroke, Raynaud phenomenon, Vascular dilatation, Va...	ORPHA:48435
Blau Syndrome	Hypertension, Pericarditis	OMIM:186580
Acute Intermittent Porphyria	Tachycardia, Hypertension	ORPHA:79276
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Aortic dissection, Medial calcification of large arteries, Arterial calc...	ORPHA:51608
Immunodeficiency 59 And Hypoglycemia	Short stature, Hypoglycemia	OMIM:233600
Apert Syndrome	Hypertension	ORPHA:87
X-Linked Dominant Chondrodysplasia Punctata	Short stature, Severe postnatal growth retardation, Neonatal hypoglycemia	ORPHA:35173
Neurofibromatosis Type 1	Arterial stenosis, Hypertension	ORPHA:636
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Renal artery stenosis, Cerebral artery atherosclerosis, Coronary artery atherosclerosis	OMIM:209010
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope...	ORPHA:276
Blau Syndrome	Large vessel vasculitis, Splenomegaly, Aortic aneurysm, Pulmonary arterial hypertension, Hyperten...	ORPHA:90340
Alstrom Syndrome	Dilated cardiomyopathy, Hypertension, Atherosclerosis, Congestive heart failure	OMIM:203800
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Interrupted aortic arch, Ventricular septal defect, Atrial septal defect, Heart murmur, Intracran...	ORPHA:163979
Feingold Syndrome Type 1	Interrupted aortic arch, Abnormal heart morphology, Multiple muscular ventricular septal defects,...	ORPHA:391641
Papillorenal Syndrome	Hypertension	OMIM:120330
Kabuki Syndrome 2	Postnatal growth retardation, Intrauterine growth retardation, Decreased body weight, Short statu...	OMIM:300867
Acute Liver Failure	Shock, Hypotension, Gastrointestinal hemorrhage, Intracranial hemorrhage	ORPHA:90062
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Hypertension	ORPHA:189427
22Q11.2 Deletion Syndrome	Hypertensive crisis, Gastrointestinal hemorrhage, Abnormal aortic arch morphology, Tetralogy of F...	ORPHA:567
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Insulin resistance, Failure to thrive, Postnatal growth retardation, Intrauterine growth retardat...	ORPHA:96182
Addison Disease	Hypotension, Orthostatic hypotension	ORPHA:85138
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Dilated cardiomyopathy, Arrhythmia, Ventricular tachycardia, Prolonged QT...	ORPHA:26793
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valve, Type 1 muscle fiber ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valve, Type 1 muscle fiber ...	ORPHA:352665
Heart And Brain Malformation Syndrome	Interrupted aortic arch, Ventricular septal defect	OMIM:616920
Cockayne Syndrome Type 1	Hypertension	ORPHA:90321
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Small for gestational age, Hypoglycemia	OMIM:614501
Carey-Fineman-Ziter Syndrome	Hypertensive crisis	ORPHA:1358
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypertension	OMIM:202010
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Splenomegaly, Aplasia of the t...	OMIM:602450
Cyclic Neutropenia	Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos...	ORPHA:2686
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased proportion of CD3...	ORPHA:760
Pagod Syndrome	Hypoplastic left heart, Pulmonary artery hypoplasia, Situs inversus totalis, Abnormal aortic morp...	ORPHA:991
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Tetra...	ORPHA:2255
Hallermann-Streiff Syndrome	Telangiectasia, Pulmonary arterial hypertension, Hypertension	OMIM:234100
Combined Oxidative Phosphorylation Defect Type 39	Intrauterine growth retardation, Neonatal hypoglycemia	ORPHA:565624
Andersen Cardiodysrhythmic Periodic Paralysis	Prominent U wave, Bidirectional ventricular ectopy, Palpitations, Syncope, Prolonged QT interval,...	OMIM:170390
Hypermobile Ehlers-Danlos Syndrome	Arterial dissection, Epistaxis, Aortic root aneurysm, Mitral valve prolapse, Venous insufficiency...	ORPHA:285
Tuberous Sclerosis Complex	Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Aortic aneurysm, Internal hemorrhage, Hypert...	ORPHA:805
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Failure to thrive, Hypoglycemia	ORPHA:90790
Beare-Stevenson Cutis Gyrata Syndrome	Hypertension	OMIM:123790
Sotos Syndrome	Increased body weight, Neonatal hypoglycemia, Glucose intolerance	OMIM:117550
Aicardi-Goutieres Syndrome 7	Vasculitis, Hematochezia, Hypertrophic cardiomyopathy, Hematemesis, Hypertension	OMIM:615846
Noonan Syndrome	Abnormal EKG, Hypertrophic cardiomyopathy, Pulmonary artery stenosis, Arrhythmia, Coarctation of ...	ORPHA:648
Koolen-De Vries Syndrome Due To A Point Mutation	Cardiomyopathy, Abnormal heart morphology, Hand muscle atrophy, Ventricular septal defect, Bicusp...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Cardiomyopathy, Abnormal heart morphology, Hand muscle atrophy, Ventricular septal defect, Bicusp...	ORPHA:363958
Keutel Syndrome	Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Hypertension, Pulmonic stenosis	OMIM:245150
Familial Osteodysplasia, Anderson Type	Hypertension	ORPHA:2769
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Short stature, Growth delay, Hypoglycemia	OMIM:616007
Denys-Drash Syndrome	Hypertension	OMIM:194080
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, Abscess, Splenomegaly, Peri...	OMIM:618935
Fucosidosis	Cardiomegaly, Hepatomegaly, Decreased muscle mass	ORPHA:349
Glycogen Storage Disease Ib	Hypertension	OMIM:232220
3-Methylglutaconic Aciduria Type 7	Neonatal hypoglycemia, Growth delay	ORPHA:445038
Velocardiofacial Syndrome	Interrupted aortic arch, Right aortic arch with mirror image branching, Tetralogy of Fallot, Vent...	OMIM:192430
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypertension, Myocardial infarction	ORPHA:90038
3-Methylglutaconic Aciduria, Type Viib	Intrauterine growth retardation, Rhizomelia, Neonatal hypoglycemia, Growth delay	OMIM:616271
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Failure to thrive, Hypoglycemia, Failure to thrive in infancy, Neonatal hypoglycemia, Growth delay	OMIM:619418
Au-Kline Syndrome	Hypertension, Aortic root aneurysm	OMIM:616580
Prader-Willi Syndrome	Stroke, Hypertension	ORPHA:739
Dilated Cardiomyopathy With Ataxia	Intrauterine growth retardation, Neonatal hypoglycemia, Growth delay	ORPHA:66634
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Hypoglycemia	ORPHA:457279
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Intrauterine growth retardation, Failure to thrive, Hypoglycemia	OMIM:617156
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hypoketotic hypoglycemia	ORPHA:228305
Fontaine Progeroid Syndrome	Abnormal heart morphology, Tricuspid regurgitation, Bicuspid aortic valve, Left ventricular hyper...	OMIM:612289
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Anemia, Brain abscess, Liver abscess, Neutrophilia	ORPHA:54251
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Failure to thrive, Hypoglycemia, Recurrent hypoglycemia, Short stature, Growth delay	OMIM:256810
Leigh Syndrome	Intrauterine growth retardation, Growth delay, Failure to thrive, Hypoglycemia	ORPHA:506
Multicystic Dysplastic Kidney	Hypertension	ORPHA:1851
Larsen Syndrome	Aortic aneurysm, Atrial septal defect, Ventricular septal defect	OMIM:150250
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova...	OMIM:300967
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Tricuspid regurgitation, Retinal arterial tortuosity, Patent foramen ovale, Cardiomegaly, Vitreou...	OMIM:620371
Neurofibromatosis, Type I	Renal artery stenosis, Hypertension	OMIM:162200
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Aortic root aneurysm, Atrial septal defect	OMIM:618891
Chondrodysplasia, Blomstrand Type	Preductal coarctation of the aorta	OMIM:215045
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Neutropenia	OMIM:617827
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Lymphopenia, T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation w...	OMIM:600802
Congenital Disorder Of Glycosylation, Type Iiaa	Hypoglycemia	OMIM:620454
Mucopolysaccharidosis Type 3	Atrioventricular block, Reduced left ventricular ejection fraction, Splenomegaly, Abnormal aortic...	ORPHA:581
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Interrupted aortic arch, Hypertrophic cardiomyopathy, Patent foramen ovale, Coarctation of aorta,...	ORPHA:17
Scalp-Ear-Nipple Syndrome	Hypertension	ORPHA:2036
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Hypoketotic hypoglycemia	ORPHA:746
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypertension	ORPHA:90793
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Coarctation of aorta, Right aortic arch	OMIM:140850
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Hypoglycemia	OMIM:620224
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Failure to thrive, Postnatal growth retardation, ...	ORPHA:508
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia	ORPHA:1302
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hypoglycemia	OMIM:246450
Combined Oxidative Phosphorylation Deficiency 58	Hypoglycemia	OMIM:620451
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia	OMIM:614204
Ogden Syndrome	Peripheral pulmonary artery stenosis, Secundum atrial septal defect, Torsade de pointes, Prematur...	OMIM:300855
Bardet-Biedl Syndrome 1	Hypertension	OMIM:209900
De Barsy Syndrome	Prominent veins on trunk, Ventricular septal defect, Persistent left superior vena cava, Hypoplas...	ORPHA:2962
Mogs-Cdg	Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly	ORPHA:79330
Friedreich Ataxia 2	Congestive heart failure, Abnormal EKG, Concentric hypertrophic cardiomyopathy	OMIM:601992
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Hypoglycemia	OMIM:616878
Orthostatic Hypotension 1	Neonatal hypoglycemia	OMIM:223360
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Shock, Hypotension, Hypovolemia	ORPHA:90794
Cerebral Visual Impairment	Neonatal hypoglycemia	ORPHA:447788
Pyruvate Carboxylase Deficiency	Hyperglycemia, Growth delay, Failure to thrive, Hypoglycemia	ORPHA:3008
Alternating Hemiplegia Of Childhood	Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave	ORPHA:2131
Glycerol Kinase Deficiency	Short stature, Growth delay, Small for gestational age, Hypoglycemia	OMIM:307030
Myhre Syndrome	Hypertension	ORPHA:2588
Acute Transverse Myelitis	Subarachnoid hemorrhage, Hypertension, Orthostatic hypotension	ORPHA:139417
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Aortic root aneurysm	OMIM:615349
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia	OMIM:615751
Orofaciodigital Syndrome I	Hypertension, Vascular dilatation	OMIM:311200
Immunodeficiency 87 And Autoimmunity	Pulmonary arterial hypertension, Hypertension, Third degree atrioventricular block, Dilated cardi...	OMIM:619573
Lcat Deficiency	Premature coronary artery atherosclerosis, Atherosclerosis	ORPHA:650
Marshall-Smith Syndrome	Premature ventricular contraction, Pulmonary arterial hypertension, Hypertension, Patent ductus a...	OMIM:602535
Multiple Mitochondrial Dysfunctions Syndrome 7	Hyperglycemia, Hypoglycemia	OMIM:620423
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Aortic atherosclerotic lesion, Accelerated atherosclerosis, Coronary artery atherosclerosis	ORPHA:209902
Shigellosis	Failure to thrive in infancy, Hypoglycemia	ORPHA:810
17Q11 Microdeletion Syndrome	Hypertrophic cardiomyopathy, Dilatation of the cerebral artery, Abnormal internal carotid artery ...	ORPHA:97685
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased proportion of CD4-positive T cells, Leukocytosis, Neutrophilia	OMIM:617099
Hardikar Syndrome	Portal hypertension, Pulmonary artery stenosis, Coarctation of aorta, Hematemesis, Partial anomal...	OMIM:301068
Non-Acquired Panhypopituitarism	Hypotension	ORPHA:90695
Acute Generalized Exanthematous Pustulosis	Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia	ORPHA:293173
Myhre Syndrome	Aortic valve stenosis, Coarctation of aorta, Hypertension, Patent ductus arteriosus	OMIM:139210
Wars2-Related Combined Oxidative Phosphorylation Defect	Intrauterine growth retardation, Neonatal hypoglycemia	ORPHA:572798
Cockayne Syndrome A	Persistent left superior vena cava, Arrhythmia, Hypertension	OMIM:216400
Alg9-Cdg	Abnormal heart morphology, Tricuspid regurgitation, Abnormal renal artery morphology, Ventricular...	ORPHA:79328
Fucosidosis	Cherry red spot of the macula, Splenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia, Flexion co...	OMIM:230000
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocytopenia, Anemia	ORPHA:508542
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Hypertension	ORPHA:79443
Congenital Syphilis	Intrauterine growth retardation, Hypoglycemia	ORPHA:499009
Sitosterolemia 1	Carotid artery stenosis, Coronary artery atherosclerosis	OMIM:210250
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Hypertension, Congestive heart failure	OMIM:181270
Perlman Syndrome	Large for gestational age, Hypoglycemia	OMIM:267000
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly	OMIM:608013
Acrofacial Dysostosis, Cincinnati Type	Pulmonary artery aneurysm, Biventricular hypertrophy, Partial atrioventricular canal defect, Pate...	OMIM:616462
Sheehan Syndrome	Obesity, Hypoglycemia	ORPHA:91355
Gastrocutaneous Syndrome	Coronary artery atherosclerosis	ORPHA:2069
Rajab Interstitial Lung Disease With Brain Calcifications 1	Failure to thrive, Hypoglycemia, Slender build, Intrauterine growth retardation, Short stature, G...	OMIM:613658
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Cardiomyopathy, Cardiomegaly, Hepatomegaly, Enlarged kidney	OMIM:130650
Chromosome 1P36 Deletion Syndrome, Distal	Dilated cardiomyopathy, Aortic root aneurysm, Tetralogy of Fallot, Patent foramen ovale, Ventricu...	OMIM:607872
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Intrauterine growth retardation, Growth delay, Failure to thrive, Hypoglycemia	ORPHA:79282
Intellectual Developmental Disorder, Autosomal Dominant 73	Aortic aneurysm, Flexion contracture, Knee flexion contracture	OMIM:620450
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Hypertensive crisis, Hypertension	ORPHA:544482
Abetalipoproteinemia	Hepatomegaly, Cardiomegaly, Congestive heart failure	ORPHA:14
Cardiospondylocarpofacial Syndrome	Muscular ventricular septal defect, Mitral regurgitation, Patent foramen ovale, Dysplastic tricus...	OMIM:157800
Paroxysmal Nocturnal Hemoglobinuria	Pulmonary embolism, Budd-Chiari syndrome, Stroke, Hypertension, Myocardial infarction	ORPHA:447
Orofaciodigital Syndrome Type 1	Hypertension, Vascular dilatation	ORPHA:2750
Hypercholesterolemia, Familial, 1	Coronary artery atherosclerosis	OMIM:143890
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemic seizures, Failure to thrive, Hypoglycemia, Delayed puberty, Short stature, Growth delay	ORPHA:79259
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Cardiomegaly, Mitral...	OMIM:182250
Oculodentodigital Dysplasia	Hypoglycemia	ORPHA:2710
Feingold Syndrome 1	Interrupted aortic arch, Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus,...	OMIM:164280
Arima Syndrome	Hypertension	OMIM:243910
Developmental And Epileptic Encephalopathy 95	Multiple joint contractures, Cardiomegaly, Hepatomegaly, Macroglossia, Arthrogryposis multiplex c...	OMIM:618143
Hypercholesterolemia, Familial, 2	Coronary artery atherosclerosis	OMIM:144010
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hyperglycemia, Failure to thrive, Hypoglycemia, Recurrent hypoglycemia	OMIM:124000
Mitochondrial Complex I Deficiency, Nuclear Type 1	Growth delay, Failure to thrive, Hypoglycemia	OMIM:252010
Bohring-Opitz Syndrome	Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia	ORPHA:97297
You-Hoover-Fong Syndrome	Double aortic arch, Coarctation of aorta, Vascular ring	OMIM:616954
Cushing Disease	Stroke, Capillary fragility, Hypertension, Myocardial infarction	ORPHA:96253
Pierson Syndrome	Retinal hemorrhage, Hypertension	OMIM:609049
Holoprosencephaly	Failure to thrive in infancy, Diabetes mellitus, Hypoglycemia	ORPHA:2162
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve...	OMIM:102700
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Obesity, Hypoglycemia	OMIM:301066
Atrial Fibrillation, Familial, 12	Paroxysmal atrial fibrillation	OMIM:614050
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Vascular ring, Abnormal heart morphology, Cardiac conduction abnormality, ...	ORPHA:353281
Cockayne Syndrome B	Arrhythmia, Hypertension	OMIM:133540
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ...	ORPHA:35078
Hereditary Fructose Intolerance	Growth delay, Reactive hypoglycemia	ORPHA:469
1Q21.1 Microdeletion Syndrome	Interrupted aortic arch, Patent ductus arteriosus, Abnormal cardiac septum morphology	ORPHA:250989
Restrictive Dermopathy	Transposition of the great arteries, Atrial septal defect, Dextrocardia, Patent ductus arteriosus...	ORPHA:1662
Tyrosinemia, Type I	Growth delay, Failure to thrive, Hypoglycemia	OMIM:276700
Alg12-Cdg	Intrauterine growth retardation, Failure to thrive, Recurrent hypoglycemia	ORPHA:79324
Multiple Endocrine Neoplasia, Type I	Hypoglycemia	OMIM:131100
Renal Dysplasia	Hypertension	ORPHA:93108
Microphthalmia, Syndromic 2	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Double outlet right vent...	OMIM:300166
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Abnormal heart morphology, Atrioventricular canal defect, Complete a...	ORPHA:508488
Primary Fanconi Renotubular Syndrome	Weight loss, Growth delay, Glycosuria, Hypoglycemia	ORPHA:3337
Tangier Disease	Accelerated atherosclerosis, Carotid artery stenosis, Coronary artery stenosis	ORPHA:31150
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Abnormal aortic arch morphology, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Ventricular sep...	ORPHA:96334
Lipodystrophy, Familial Partial, Type 7	Pulmonary arterial hypertension, Hypertension, Orthostatic hypotension, Pulmonary arteriovenous m...	OMIM:606721
Yunis-Varon Syndrome	Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Ventricular septal defect, Cardiomega...	ORPHA:3472
Cockayne Syndrome	Vascular calcification, Retinal arteriolar constriction, Atherosclerosis, Retinal hemorrhage, Hyp...	ORPHA:191
Glutaryl-Coa Dehydrogenase Deficiency	Fasting hypoglycemia	ORPHA:25
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
Cranioectodermal Dysplasia 2	Hypertension, Patent ductus arteriosus	OMIM:613610
Systemic Lupus Erythematosus	Hypertension, Raynaud phenomenon	ORPHA:536
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypotension	ORPHA:95494
Fructose Intolerance, Hereditary	Glycosuria, Failure to thrive, Hypoglycemia	OMIM:229600
Intellectual Developmental Disorder, X-Linked 112	Abnormal heart morphology, Bicuspid aortic valve, Right aortic arch	OMIM:301111
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Hypoglycemia, Overweight, Growth delay, Pituitary dwarfism	ORPHA:226307
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bilateral superior vena cava, Hypertrophic cardiomyopathy, Mitral regurgitation, Coarctation of a...	OMIM:220111
Multiple Endocrine Neoplasia Type 2	Hypertensive crisis, Palpitations, Hypertension associated with pheochromocytoma	ORPHA:653
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hypertension	OMIM:266920
Smith-Lemli-Opitz Syndrome	Hypertrophic cardiomyopathy, Coarctation of aorta, Ventricular fibrillation, Hypertension, Patent...	OMIM:270400
Paternal Uniparental Disomy Of Chromosome 6	Ventricular septal defect, Cardiomegaly, Hepatomegaly, Macroglossia, Patent ductus arteriosus	ORPHA:96191
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypertension	ORPHA:95699
Craniofacioskeletal Syndrome	Interrupted aortic arch, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:300712
Deeah Syndrome	Short stature, Intrauterine growth retardation, Neonatal hypoglycemia, Decreased body weight	OMIM:619004
Carnitine Palmitoyltransferase Ii Deficiency	Hypoketotic hypoglycemia	ORPHA:157
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Acromegaly	Hypertrophic cardiomyopathy, Hypertension, Mitral regurgitation	ORPHA:963
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocytosis, Autoimmune th...	OMIM:620565
Somatomammotropinoma	Hypertrophic cardiomyopathy, Hypertension, Mitral regurgitation	ORPHA:314769
Bartter Syndrome, Type 1, Antenatal	Low-to-normal blood pressure	OMIM:601678
Liver Disease, Severe Congenital	Dilatation of the ventricular cavity, Splenomegaly, Patent foramen ovale, Ventricular septal defe...	OMIM:619991
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Hypertension, Portal hypertension	ORPHA:731
Congenital Disorder Of Glycosylation, Type Iim	Hypertension	OMIM:300896
Hamamy Syndrome	Prolonged QRS complex, Mitral regurgitation	OMIM:611174
Bartter Syndrome, Type 2, Antenatal	Low-to-normal blood pressure	OMIM:241200
Multiple Endocrine Neoplasia Type 1	Hypertension, Hematemesis, Shortened QT interval, Melena	ORPHA:652
African Trypanosomiasis	Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu...	ORPHA:3385
Congenital Tracheal Stenosis	Hypoplastic left heart, Anomalous origin of left pulmonary artery from ascending aorta, Ventricul...	ORPHA:141127
Williams-Beuren Syndrome	Peripheral pulmonary artery stenosis, Coronary artery stenosis, Retinal arteriolar tortuosity, Re...	OMIM:194050
Proteasome-Associated Autoinflammatory Syndrome 1	Congestive heart failure, Splenomegaly, Cardiomegaly, Arrhythmia, Hepatomegaly	OMIM:256040
3-Methylglutaconic Aciduria, Type Viii	Neonatal hypoglycemia, Growth delay, Failure to thrive	OMIM:617248
Sweet Syndrome	Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Sterile abscess, Neutrophilia, ...	ORPHA:3243
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hypoplastic left heart, Mitral atresia, Muscular ventricular septal defect, Hepatosplenomegaly, I...	OMIM:619503
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Vascular ring, Abnormal heart morphology, Cardiac conduction abnormality, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Vascular ring, Abnormal heart morphology, Cardiac conduction abnormality, ...	ORPHA:353277
Estrogen Resistance Syndrome	Coronary artery atherosclerosis	ORPHA:785
Fanconi Anemia	Arteriovenous malformation, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Abnormal aortic mor...	ORPHA:84
Gaucher Disease, Type Ii	Hepatomegaly, Double aortic arch, Splenomegaly	OMIM:230900
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Tetralogy of Fallot, Coarctation of aorta, Hypertension	OMIM:210710
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea...	OMIM:301000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly	OMIM:618278
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Slender build, Large for gestational age, Neonatal hypoglycemia	ORPHA:457359
Woodhouse-Sakati Syndrome	Abnormal T-wave	OMIM:241080
Holoprosencephaly 1	Short stature, Hypoglycemia	OMIM:236100
Neurooculorenal Syndrome	Postnatal growth retardation, Recurrent hypoglycemia	OMIM:620305
Costello Syndrome	Short stature, Failure to thrive, Hypoglycemia	OMIM:218040
2Q37 Microdeletion Syndrome	Abnormal aortic morphology	ORPHA:1001
Hypomagnesemia 3, Renal	Hypertension	OMIM:248250
Rubinstein-Taybi Syndrome 1	Hypoplastic left heart, Aortic isthmus hypoplasia, Mitral valve prolapse, Ventricular septal defe...	OMIM:180849
Sotos Syndrome	Ankle flexion contracture, Abnormal heart morphology, Hip contracture, Ventricular septal defect,...	ORPHA:821
Tetrasomy 9P	Juxtaductal coarctation of the aorta, Patent foramen ovale, Abnormal mitral valve morphology, Pul...	ORPHA:3310
Carney Complex	Dilatation of the cerebral artery, Stroke, Hypertension, Congestive heart failure	ORPHA:1359
Beckwith-Wiedemann Syndrome	Obesity, Neonatal hypoglycemia, Large for gestational age, Hypoglycemia	ORPHA:116
Simpson-Golabi-Behmel Syndrome	Hypoglycemia	ORPHA:373
Bardet-Biedl Syndrome	Hypertension, Cardiomyopathy	ORPHA:110
Autosomal Recessive Robinow Syndrome	Tetralogy of Fallot, Abnormal pulmonary valve morphology, Abnormal tricuspid valve morphology, Ab...	ORPHA:1507
Pallister-Hall Syndrome	Preductal coarctation of the aorta, Patent ductus arteriosus, Ventricular septal defect	OMIM:146510
Igg4-Related Kidney Disease	Abnormal aortic morphology, Arteritis, Enlarged kidney, Pericarditis	ORPHA:449395
Cushing Syndrome Due To Ectopic Acth Secretion	Stroke, Capillary fragility, Hypertension, Myocardial infarction	ORPHA:99889
Woodhouse-Sakati Syndrome	Abnormal T-wave	ORPHA:3464
Charge Syndrome	Secundum atrial septal defect, Tetralogy of Fallot, Right aortic arch, Ventricular septal defect,...	OMIM:214800
Steinert Myotonic Dystrophy	Dilated cardiomyopathy, Left ventricular systolic dysfunction, Prolonged QRS complex, Supraventri...	ORPHA:273
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Hypertension, Corneal neovascularization	OMIM:308205
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplastic aortic arch	ORPHA:457284
Digeorge Syndrome	Interrupted aortic arch, Right aortic arch with mirror image branching, Tetralogy of Fallot, Sple...	OMIM:188400
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Right aortic arch, Ventricular septal defect	ORPHA:513456
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hypertension	OMIM:201750
Cerebrotendinous Xanthomatosis	Precocious atherosclerosis, Premature coronary artery atherosclerosis	ORPHA:909
Hyperlipoproteinemia, Type Id	Premature coronary artery atherosclerosis	OMIM:615947
Otopalatodigital Syndrome, Type Ii	Dilatation of the sinus of Valsalva, Atrial septal defect	OMIM:304120
Chronic Visceral Acid Sphingomyelinase Deficiency	Coronary artery atherosclerosis, Cherry red spot of the macula	ORPHA:77293
Alström Syndrome	Dilated cardiomyopathy, Congestive heart failure, Portal hypertension, Pulmonary arterial hyperte...	ORPHA:64
Craniofacial Microsomia 1	Tetralogy of Fallot, Right aortic arch, Ventricular septal defect, Coarctation of aorta, Patent d...	OMIM:164210
Intellectual Disability And Myopathy Syndrome	Left ventricular systolic dysfunction	OMIM:619719

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Abcc9

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Abcc9.

No publications found that use IMPC mice or data for Abcc9.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Abcc9^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Abcc9^em1(IMPC)H	Exon Deletion	Mice
Abcc9^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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