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Gene: Mrtfb MGI:3050795

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
myocardin related transcription factor B
Synonyms:
MRTF-B,  Gt4-1,  Mkl2,  Mrtfb

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No 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.

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 Mrtfb 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenitally Uncorrected Transposition Of The Great Arteries
Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricular hypert... ORPHA:860
Aorta Coarctation
Patent ductus arteriosus, Pulmonary arterial hypertension, Aortic valve atresia, Perimembranous v... ORPHA:1457
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Left ventricular outflow tract obstruction, Hypoplastic pulmonary ... OMIM:613854
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Ascending aortic dissection, Descending aortic dissection OMIM:613780
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Familial Aortic Dissection
Aortic root aneurysm, Patent ductus arteriosus, Exertional dyspnea, Descending aortic dissection,... ORPHA:229
Aortic Aneurysm, Familial Thoracic 6
Ascending tubular aorta aneurysm, Moyamoya phenomenon, Descending aortic dissection, Aortic aneur... OMIM:611788
Genitopalatocardiac Syndrome
Double outlet right ventricle, Transposition of the great arteries, Right aortic arch, Ventricula... OMIM:231060
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... OMIM:217095
Aortic Aneurysm, Familial Thoracic 4
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... OMIM:132900
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect, T-wave al... OMIM:618782
Aorto-Ventricular Tunnel
Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Heart murmur, Congesti... ORPHA:3400
Structural Heart Defects And Renal Anomalies Syndrome
Systolic heart murmur, Webbed neck, Truncus arteriosus, Ventricular septal defect, Death in infan... OMIM:617478
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Congenital Heart Defects, Multiple Types, 2
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Myxomatous mitral valve ... OMIM:614980
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Cardiomyopathy, Dilated, 1Ff
Severely reduced left ventricular ejection fraction, Congestive heart failure, Increased left ven... OMIM:613286
Cardiomyopathy, Dilated, 1M
Impaired myocardial contractility, Reduced left ventricular ejection fraction, Congestive heart f... OMIM:607482
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Vascular dilatation, Ventricular arrhythmia, Congestive heart ... OMIM:600884
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Left ve... ORPHA:99050
Left Ventricular Noncompaction 1
Patent ductus arteriosus, Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia... OMIM:604169
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure, Death in infancy OMIM:212080
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Webbed neck, Truncus arteriosus, Ventricular septal defect OMIM:601355
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia... OMIM:618780
Cardiomyopathy, Dilated, 2A
Myofiber disarray, Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular e... OMIM:611880
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Common atrium, Transposition of the gre... OMIM:613751
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Aortic Arch Interruption
Pedal edema, Systolic heart murmur, Left ventricular outflow tract obstruction, Aortopulmonary wi... ORPHA:2299
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... OMIM:614779
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Cardiomyopathy, Familial Hypertrophic, 15
Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent... OMIM:613255
Truncus Arteriosus
Truncus arteriosus, Tachycardia, Pulmonary artery stenosis, Ventricular septal defect, Interrupte... ORPHA:3384
Heterotaxy, Visceral, 7, Autosomal
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Common atrium,... OMIM:616749
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism, Peripheral arterial stenosis OMIM:134400
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Aortic aneurysm, Frontal encephalocele ORPHA:261102
Scimitar Syndrome
Truncus arteriosus, Heart block, Abnormal vena cava morphology, Double outlet right ventricle, Ve... ORPHA:185
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... OMIM:613424
Cardiomyopathy, Dilated, 1L
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre... OMIM:606685
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Aortic aneur... OMIM:612422
Periventricular Nodular Heterotopia
Patent ductus arteriosus, Aortic regurgitation, Aortic aneurysm, Abnormal bleeding ORPHA:98892
Congenital Gerbode Defect
Pedal edema, Systolic heart murmur, Palpitations, Peripheral edema, Elevated right atrial pressur... ORPHA:99095
Ciliary Dyskinesia, Primary, 40
Patent ductus arteriosus, Congenitally corrected transposition of the great arteries, Atrioventri... OMIM:618300
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... OMIM:617205
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, Atrial fibrillation, Ascending aortic dissection, Thoracic aortic aneurysm OMIM:616166
Partial Atrioventricular Septal Defect
Angina pectoris, Palpitations, Atrial arrhythmia, Double outlet right ventricle, Partial atrioven... ORPHA:1330
Cardiomyopathy, Dilated, 1S
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... OMIM:613426
Cardiomyopathy, Dilated, 1Ee
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613252
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect OMIM:212090
Ventricular Septal Defect 1
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... OMIM:614429
Absence Of The Pulmonary Artery
Pedal edema, Systolic heart murmur, Truncus arteriosus, Abnormal cardiac septum morphology, Abnor... ORPHA:980
Heterotaxy, Visceral, 12, Autosomal
Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Left superior ven... OMIM:619702
Multisystemic Smooth Muscle Dysfunction Syndrome
Patent ductus arteriosus, Pulmonary arterial hypertension, Common carotid artery aneurysm, Aortic... OMIM:613834
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congestive heart failure, Red... OMIM:604765
Coronary Arterial Fistula
Pedal edema, Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitat... ORPHA:2041
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Webbed neck, Truncus arteriosus, Ventricular septal defect, Short neck ORPHA:2516
Fixed Subaortic Stenosis
Atrioventricular canal defect, Systolic heart murmur, Ascending tubular aorta aneurysm, Left vent... ORPHA:3092
Autosomal Dominant Coarctation Of Aorta
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... ORPHA:1455
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca... OMIM:613172
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Double outlet right ventricle, Death in infancy, Bicuspid aortic valve,... OMIM:618845
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Vascular ring, Lymphedema, ... OMIM:601927
Tricuspid Atresia
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Hypo... ORPHA:1209
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Congestive heart fail... OMIM:601493
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Congestive heart failure, Edema, Ventricular tachycardia, Death in early ... OMIM:605676
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Dilated cardi... OMIM:605362
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy OMIM:609909
Adams-Oliver Syndrome 6
Hepatic fibrosis, Ventricular septal defect, Truncus arteriosus, Portal hypertension, Splenomegal... OMIM:616589
Mass Syndrome
Aortic aneurysm, Ascending aortic dissection OMIM:604308
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Intermittent claudication, Myocardial infarction, Renovascular ... OMIM:135580
Aortic Valve Disease 2
Aortic tortuosity, Calcification of the aorta, Aortic aneurysm, Ascending aortic dissection, Coar... OMIM:614823
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613881
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Transient ischemic attack, Atherosclerosis, Intracranial hemorrhage, Abnorm... ORPHA:231160
Familial Atrial Myxoma
Pedal edema, Vascular dilatation, Bacterial endocarditis, Heart murmur, Pulmonic valve myxoma, Co... ORPHA:615
Cardiomyopathy, Dilated, 1U
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Conge... OMIM:613694
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatic fibrosis, Truncus arteriosus, Malformation of the hepatic ductal plate, Hypertr... OMIM:615415
Isolated Polycystic Liver Disease
Respiratory insufficiency, Vascular dilatation, Polycystic liver disease, Gastrointestinal hemorr... ORPHA:2924
Double Outlet Right Ventricle
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart murmur, Coarc... ORPHA:3426
Meacham Syndrome
Patent ductus arteriosus, Neonatal death, Death in childhood, Cardiac total anomalous pulmonary v... OMIM:608978
Takayasu Arteritis
Pulmonary arterial hypertension, Ascending tubular aorta aneurysm, Vascular dilatation, Cerebral ... ORPHA:3287
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Pneumothorax, Ischemic stroke, Mucoid extracellular matrix accumulation, Ascending aortic dissect... ORPHA:91387
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Abnormal heart morphology, P... ORPHA:401935
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... OMIM:613251
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Atrial septal defect, Oligohydramnios, Hypertrophic car... OMIM:620135
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Aneurysm Of Interventricular Septum
Vascular dilatation OMIM:105805
Heparin-Induced Thrombocytopenia
Pulmonary embolism, Cerebral ischemia, Myocardial infarction, Stroke, Abnormal onset of bleeding ORPHA:3325
Sensorineural Deafness With Dilated Cardiomyopathy
Abnormal cardiac ventricular function, Dilated cardiomyopathy, Congestive heart failure ORPHA:217622
Distal Trisomy 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Congenitally Corrected Transposition Of The Great Arteries
Bilateral superior vena cava with bridging vein, Wolff-Parkinson-White syndrome, Abnormal left ve... ORPHA:216694
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Elevated circulating alanine aminotransferase concentration, Ventricular septal defect, Portal in... OMIM:613759
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Incre... OMIM:615396
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... OMIM:613642
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Left ve... OMIM:615373
Laubry-Pezzi Syndrome
Patent ductus arteriosus, Patent foramen ovale, Elevated pulmonary artery pressure, Ascending tub... ORPHA:99094
Telangiectasia, Hereditary Benign
Vascular dilatation, Diffuse telangiectasia OMIM:187260
Aortic Aneurysm, Familial Thoracic 12
Aortic root aneurysm, Ascending tubular aorta aneurysm, Chronic pulmonary obstruction, Ascending ... OMIM:619825
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure, Increased left ve... OMIM:615248
Cardiomyopathy, Familial Hypertrophic, 27
Endocardial fibroelastosis, Impaired myocardial contractility, Left ventricular diastolic dysfunc... OMIM:618052
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy OMIM:611879
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... ORPHA:217607
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Cardiomyopathy, Familial Hypertrophic, 1
Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia OMIM:192600
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:612877
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Situs inversus totalis, Dextrocardia OMIM:617577
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... OMIM:115197
Atrial Septal Defect 2
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... OMIM:607941
Igg4-Related Aortitis
Ascending tubular aorta aneurysm, Asthma, Abnormal common carotid artery morphology, Dilated left... ORPHA:449400
Vein Of Galen Aneurysmal Malformation
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology ORPHA:1053
22Q11.2 Duplication Syndrome
Ventricular septal defect, Interrupted aortic arch, Hypoplastic left heart, Tetralogy of Fallot, ... ORPHA:1727
Cardiac Valvular Dysplasia 2
Systolic heart murmur, Ascending tubular aorta aneurysm, Left ventricular diastolic dysfunction, ... OMIM:620067
Temtamy Syndrome
Aortic aneurysm ORPHA:1777
Combined Oxidative Phosphorylation Deficiency 8
Reduced left ventricular ejection fraction, Death in infancy, Congestive heart failure, Hypertrop... OMIM:614096
Klippel-Trénaunay Syndrome
Patent ductus arteriosus, Pulmonary embolism, Hydrops fetalis, Abnormality of the pulmonary arter... ORPHA:90308
Cardiomyopathy, Familial Hypertrophic, 8
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... OMIM:608751
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Congestive hea... OMIM:613697
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... ORPHA:45453
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Pulmonary insufficiency, Heart murmur, Congestive heart failure, D... ORPHA:2326
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard... ORPHA:75566
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Limb hypertonia, Perimembranous ventricular septal defect OMIM:619170
Atrial Septal Defect, Sinus Venosus Type
Systolic heart murmur, Supraventricular arrhythmia, Premature atrial contractions, Palpitations, ... ORPHA:99105
Aortic Valve Disease 1
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... OMIM:109730
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Ventricular septal defect, Torticollis, Atrial septal defect, Pulmonic ... OMIM:249670
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Pedal edema, Ventricular septal defect, Peripheral arterial stenosis, V... OMIM:126320
Megabladder, Congenital
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... OMIM:618719
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Death in childhood, Congestive heart failure, Death in infancy OMIM:615440
Congenital Disorder Of Glycosylation, Type Ih
Patent ductus arteriosus, Perimembranous ventricular septal defect, Camptodactyly, Oligohydramnio... OMIM:608104
Ventricular Septal Defect 3
Patent ductus arteriosus, Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect OMIM:614432
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic left... ORPHA:2248
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial septal defect, Atrioventricular block, Atrioventricular dissoci... OMIM:614954
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Polyhydramnios, Atrioventricular canal defect, Nonimmune hydrops fetalis, Pulmonary artery dilata... OMIM:265380
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta OMIM:604381
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Cardiac Diverticulum
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Pulmonary artery stenosis, Endocarditis,... ORPHA:1686
Arterial Calcification, Generalized, Of Infancy, 2
Arterial calcification, Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogeni... OMIM:614473
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Death in infancy, Abnormality of the... ORPHA:1354
Ebstein Malformation Of The Tricuspid Valve
Patent ductus arteriosus, Sudden cardiac death, Imperforate tricuspid valve, Right bundle branch ... ORPHA:1880
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Congenital Aortic Valve Stenosis
Sudden cardiac death, Abnormal T-wave, Increased QRS voltage, Exertional dyspnea, Reduced left ve... ORPHA:3093
Atrial Standstill
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... ORPHA:1344
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Arterial stenosis, Aortic regu... ORPHA:79094
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Decreased liver function, Hepatic fibrosis, Ventricular septal defect ORPHA:306550
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... OMIM:604400
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... OMIM:614672
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation, Telangiectasia, Pulmonary arteriovenous malformation, Cerebra... OMIM:175050
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Ascending aortic dissection OMIM:618496
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Hypoplastic left atrium,... OMIM:601186
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentratio... OMIM:614876
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... OMIM:612158
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Premature coronary artery atherosclerosis, Congestive heart failure, Hyper... OMIM:615703
Rin2 Syndrome
Umbilical hernia, Aortic aneurysm, Bruising susceptibility ORPHA:217335
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... OMIM:612098
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect, Polyhydramnios OMIM:616920
Long Qt Syndrome 13
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... OMIM:613485
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Oligohydramnios, Arrhythmia OMIM:617021
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Hy... OMIM:220210
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Systolic heart murmur, Right bundle branch block, Abnormal atrioventricular ... ORPHA:439
Recombinant Chromosome 8 Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Joint contrac... OMIM:179613
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac arrest, Congestive heart failur... ORPHA:49827
Vascular Hyalinosis
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia OMIM:277175
Peripartum Cardiomyopathy
Pedal edema, Sinus tachycardia, Cardiogenic shock, Palpitations, Peripheral edema, Elevated jugul... ORPHA:563
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta OMIM:241550
Heart Defects, Congenital, And Other Congenital Anomalies
Patent ductus arteriosus, Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Pe... OMIM:600001
Idiopathic Pulmonary Arterial Hypertension
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Pedal edema, Heart murmur, S... ORPHA:275766
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm... ORPHA:1345
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Abdominal aortic aneurysm, Aortic arch aneurysm, Mitral regurgitation, Coro... OMIM:617168
Cardiomyopathy, Familial Hypertrophic, 26
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... OMIM:617047
Stankiewicz-Isidor Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect OMIM:617516
Hydrops Fetalis, Nonimmune
Nonimmune hydrops fetalis, Hydrops fetalis, Congestive heart failure OMIM:236750
Cardiomyopathy, Dilated, 1G
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... OMIM:604145
Sandhoff Disease
Congestive heart failure, Cherry red spot of the macula ORPHA:796
Emanuel Syndrome
Patent ductus arteriosus, Truncus arteriosus, Delayed eruption of primary teeth, Ventricular sept... OMIM:609029
Velocardiofacial Syndrome
Ventricular septal defect, Interrupted aortic arch, Double aortic arch, Pulmonary artery atresia,... OMIM:192430
Phace Association
Patent ductus arteriosus, Vascular dilatation, Anomalous branches of internal carotid artery, Aor... OMIM:606519
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Mitral regurgitation, Coarctation of abdominal aorta, Cardiomyopathy OMIM:226100
Non-Involuting Congenital Hemangioma
Prominent superficial veins, Congestive heart failure, Peripheral arteriovenous fistula, Telangie... ORPHA:141179
Johnson Neuroectodermal Syndrome
Patent ductus arteriosus, Right aortic arch, Ventricular septal defect OMIM:147770
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... OMIM:608569
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Acrocardiofacial Syndrome
Truncus arteriosus, Ventricular septal defect, Death in infancy, Mitral stenosis, Atrial septal d... ORPHA:2008
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Temtamy Syndrome
Aortic regurgitation, Aortic aneurysm OMIM:218340
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Paroxysmal supraventricular tachycardia, Spina bifida o... OMIM:617877
16P13.11 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Cardiac Valvular Dysplasia 1
Hypoplasia of right ventricle, Tricuspid regurgitation, Patent foramen ovale, Left aortic arch wi... OMIM:212093
Aneurysm Of Sinus Of Valsalva
Bacterial endocarditis, Heart murmur, Congestive heart failure, Aortic regurgitation, Edema, Stro... ORPHA:1054
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... OMIM:108900
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure OMIM:301021
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Respiratory insufficiency, Neonatal death, Coarctation of aorta OMIM:601612
Loeys-Dietz Syndrome 6
Abdominal aortic aneurysm, Vertebral artery aneurysm, Carotid artery dissection, Carotid artery d... OMIM:619656
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, Umbilical hernia OMIM:615297
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Congestive heart failure, Hypertens... OMIM:540000
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Cardiomegaly, Reduced left ventricular ejection fraction, Abnormal EK... ORPHA:85451
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Congestive heart failure, Arrhythmia OMIM:616198
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Wyburn-Mason Syndrome
Vascular dilatation, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Arteriovenous ma... ORPHA:53719
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Patent ductus arteriosus, Perimembranous ventricular septal defect, Left-to-right shunt, Camptoda... ORPHA:363444
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Abnormal aortic morphology, Hydrops fetalis, Ventricular septal defect, Abnormal ... ORPHA:3405
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... OMIM:619657
Arterial Calcification, Generalized, Of Infancy, 1
Carotid artery calcification, Cardiomegaly, Abdominal aortic calcification, Congestive heart fail... OMIM:208000
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallo... ORPHA:3304
Fetal Minoxidil Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:1918
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Combined Oxidative Phosphorylation Deficiency 25
Vascular dilatation OMIM:616430
Rapidly Involuting Congenital Hemangioma
Prominent superficial veins, Congestive heart failure, Peripheral arteriovenous fistula, Telangie... ORPHA:141184
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Hydrops fetalis, Chylopericardium, Congestive heart failure, Ple... ORPHA:2414
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Short neck, Camptodactyly, Perimembranous ventricular septal ... OMIM:618804
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Interrupted aortic arc... ORPHA:2255
Cardiomyopathy, Familial Hypertrophic, 6
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric ... OMIM:600858
Arterial Tortuosity Syndrome
Aortic root aneurysm, Vascular dilatation, Abnormal carotid artery morphology, Cardiac arrest, Ao... ORPHA:3342
Craniofaciofrontodigital Syndrome
Polyhydramnios, Abnormal cerebral vascular morphology, Pericardial effusion, Persistent fetal cir... ORPHA:363705
Cardiomyopathy, Dilated, 2F
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:619747
Cardiac-Urogenital Syndrome
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... OMIM:618280
Fragile X Syndrome
Ascending tubular aorta aneurysm, Sinusitis ORPHA:908
Atrial Standstill 2
Vascular dilatation, Dilatation of the ventricular cavity, Atrial standstill, Atrial cardiomyopat... OMIM:615745
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Perimembranous ventricular septal defect, Secundum atrial septal defec... OMIM:600987
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... OMIM:115200
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... OMIM:617222
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Hydrocephalus, Congestive heart failure, Cardiomegaly, Ascites, Death in childhood OMIM:269920
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... ORPHA:300751
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Vascular ring, Hydrocephalus, Atrial septal defect, Mitral regurgitation OMIM:603387
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect OMIM:601322
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Snijders Blok-Campeau Syndrome
Umbilical hernia, Pulmonic stenosis, Atrial septal defect, Perimembranous ventricular septal defect OMIM:618205
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Hydrocephalus, Congestive heart failure, Oligohydramnios, Perica... ORPHA:163596
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Pulmonary artery dilatation, Palpitations, Peripheral edema, Abnormal P wa... ORPHA:99106
Cardiomyopathy, Dilated, 1Nn
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... OMIM:615916
Emanuel Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Delayed eruption of teet... ORPHA:96170
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C... OMIM:601494
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Capillary Malformation-Arteriovenous Malformation
Telangiectasia, Cerebral ischemia, Lymphedema, Arteriovenous malformation, Cerebral arteriovenous... ORPHA:137667
Coenzyme Q10 Deficiency, Primary, 7
Patent ductus arteriosus, Ventricular septal defect, Hypoplastic left heart, Hypertrophic cardiom... OMIM:616276
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Vascular dilatation, Aortic aneurysm, Abnormal bleeding, Arterial dissection, Bruising susceptibi... ORPHA:1900
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Polyhydramnios, Atrioventricular canal defect, Right atrial isomeris... OMIM:306955
Peroxisome Biogenesis Disorder 3A (Zellweger)
Vascular dilatation, Hepatomegaly OMIM:614859
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... ORPHA:57777
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Ventricular septal defect, Atrial septal defect, Proximal amyotrophy, Pr... OMIM:253300
Dandy-Walker Malformation With Postaxial Polydactyly
Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation OMIM:220220
Indomethacin Embryofetopathy
Hydrops fetalis, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Cardiomyopathy ORPHA:1909
Osteogenesis Imperfecta, Type I
Aortic aneurysm, Bruising susceptibility OMIM:166200
Giant Cell Arteritis
Abdominal aortic aneurysm, Sudden cardiac death, Hepatic failure, Cerebral ischemia, Pericarditis... ORPHA:397
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Hydrocephalus, Congestive heart failure OMIM:300886
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Right bundle branch block, Sinus tachycardia, Elevated jugular venous press... OMIM:255160
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Congestive heart failure, Stillbirth, Death in adolescence, Neon... OMIM:619751
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Patent ductus arteriosus, Double outlet right ventricle, Patent foramen ovale, Webbed neck, Ventr... OMIM:618316
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal left ventricle morphology, Congestive heart failure, Arrhythmia, Abnorm... ORPHA:1055
Loeys-Dietz Syndrome 4
Aortic tortuosity, Aortic root aneurysm, Ascending tubular aorta aneurysm, Pneumothorax, Torticol... OMIM:614816
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... OMIM:607450
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Aortic aneurysm, Obstructive sleep apnea OMIM:620070
Lambert Syndrome
Intrahepatic biliary atresia, Branchial anomaly, Ventricular septal defect, Jaundice, Cholestasis ORPHA:1296
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic v... ORPHA:477817
Congenital Tracheomalacia
Patent ductus arteriosus, Pulmonary arterial hypertension, Cardiomegaly, Ventricular septal defec... ORPHA:95430
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Mitral valve prolapse, Short chordae tendineae of the tricuspid valve, Sho... OMIM:314400
Familial Cutaneous Collagenoma
Congestive heart failure, Angina pectoris, Atrial septal defect, Cardiomyopathy ORPHA:53296
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia ORPHA:871
Pseudoxanthoma Elasticum
Sudden cardiac death, Retinal hemorrhage, Vascular dilatation, Restrictive cardiomyopathy, Abnorm... ORPHA:758
Congenital Contractural Arachnodactyly
Aortic aneurysm ORPHA:115
Telangiectasia, Hereditary Hemorrhagic, Type 4
Venous varicosities of celiac and mesenteric vessels, Dilatation of mesenteric artery, Palate tel... OMIM:610655
Bardet-Biedl Syndrome 19
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hepatic steatosis, Hyp... OMIM:615996
Loeys-Dietz Syndrome
Patent ductus arteriosus, Vascular dilatation, Cardiac arrest, Aortic aneurysm, Abnormal bleeding... ORPHA:60030
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Encephalocele ORPHA:217
Mitochondrial Complex I Deficiency, Nuclear Type 20
Cerebral edema, Death in infancy, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic ... OMIM:611126
Macs Syndrome
Bronchiectasis, Dilation of Virchow-Robin spaces, Aortic aneurysm, Bruising susceptibility, Prolo... OMIM:613075
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Left ventricular hypertrophy, Bradycardia, Congestive heart failure OMIM:619048
Pulmonary Hypertension, Primary, 1
Pulmonary arterial hypertension, Arterial intimal fibrosis, Pulmonary arterial medial hypertrophy... OMIM:178600
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Hydrops fetalis, Fetal ascites, Stillbirth, Preductal coarctation of the aorta OMIM:215045
Hughes-Stovin Syndrome
Pulmonary arterial hypertension, Pulmonary embolism, Pulmonary artery aneurysm, Arterial stenosis... ORPHA:228116
Atrial Septal Defect, Ostium Secundum Type
Pedal edema, Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular functi... ORPHA:99103
Cutis Laxa, Autosomal Recessive, Type Ia
Ascending tubular aorta aneurysm, Vascular tortuosity, Emphysema, Supravalvular aortic stenosis, ... OMIM:219100
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Abnormal aortic morphology, Hypertension, Arrhythmia ORPHA:3222
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... OMIM:620066
Mungan Syndrome
Tricuspid regurgitation, Pulmonic stenosis, Perimembranous ventricular septal defect OMIM:611376
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Shortened PR in... OMIM:261740
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopathy ORPHA:206546
Combined Oxidative Phosphorylation Deficiency 28
Polyhydramnios, Congestive heart failure OMIM:616794
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Congestive heart failure, Myocardial infarction, Premature coronary artery ather... OMIM:176670
Dural Sinus Malformation
Cerebellar hemorrhage, Vascular dilatation, Cerebral hemorrhage, Carotid cavernous fistula, Intra... ORPHA:97339
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Dilated cardiomyopathy, Congestive heart failure, Cardiomyopathy OMIM:608099
Feingold Syndrome Type 1
Patent ductus arteriosus, Interrupted aortic arch, Abnormal heart morphology, Multiple muscular v... ORPHA:391641
Parkes Weber Syndrome
Vascular dilatation, Bounding pulse, Arteriovenous malformation, Cerebral arteriovenous malformat... ORPHA:90307
Butyrylcholinesterase Deficiency
Myocardial infarction, Congestive heart failure ORPHA:132
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Patent ductus arteriosus, Bidirectional shunt, Elevated pulmonary artery pressure, Thoracic aorti... OMIM:619351
Heterotaxy, Visceral, 5, Autosomal
Patent ductus arteriosus, Double outlet right ventricle, Atrial reentry tachycardia, Ascending tu... OMIM:270100
Tako-Tsubo Cardiomyopathy
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... ORPHA:66529
Pseudoxanthoma Elasticum
Retinal hemorrhage, Restrictive cardiomyopathy, Accelerated atherosclerosis, Mitral stenosis, Mit... OMIM:264800
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Heart murmur, Hypertension, Ascending aortic dissection, Coarctation of aor... ORPHA:402075
Congenital Myopathy 8
Cardiomegaly, Congestive heart failure OMIM:618654
Chromosome 9P Deletion Syndrome
Patent ductus arteriosus, Ventricular septal defect, Perimembranous ventricular septal defect, He... OMIM:158170
Transaldolase Deficiency
Telangiectasia, Hydrops fetalis, Atrial septal defect, Coarctation of aorta, Edema, Biventricular... ORPHA:101028
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Common atrium, Atrial septal defect, Tetralogy... OMIM:208530
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Severely reduced left ventricular ejection fraction, Congestive heart failu... OMIM:611705
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory insufficiency, Left ventricular outflow tract obstruction, Hypertrophic cardiomyopath... ORPHA:365
Timothy Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Prolonged QT interval,... OMIM:601005
Cednik Syndrome
Stroke, Congestive heart failure ORPHA:66631
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Umbilical hernia, Mitral atresia, Redund... OMIM:618164
Marfanoid Habitus With Situs Inversus
Aortic root aneurysm, Aortic regurgitation, Persistent left superior vena cava, Obstructive sleep... OMIM:609008
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Nemaline Myopathy 9
Polyhydramnios, Ventricular septal defect OMIM:615731
Seckel Syndrome 10
Abdominal aortic aneurysm, Elevated circulating alanine aminotransferase concentration, Hypertens... OMIM:617253
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Vascular dilatation, Hypertension, Short neck, Tachypnea OMIM:613320
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri... OMIM:610338
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary arterial hypertension, Elevated jugular venous pressure, Abnormally loud pulmonic compo... OMIM:265450
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Pedal edema, Pulmonary edema, Abnormal EKG,... ORPHA:330001
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Abnormal aortic valve morphology, Congestive heart failure, Oligohydramnios, Hy... ORPHA:1194
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hepatic arteriovenous malformation, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad ... OMIM:187300
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Patent ductus arteriosus, Ventricular septal defect, Heart murmur, Interrupted aortic arch, Hydro... ORPHA:163979
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Acquired Aneurysmal Subarachnoid Hemorrhage
Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syn... ORPHA:90065
Alport Syndrome
Abnormal aortic morphology, Aortic aneurysm, Hypertension, Renal glomerular foam cells, Dyspnea, ... ORPHA:63
Congenital Total Pulmonary Venous Return Anomaly
Supracardiac total anomalous pulmonary venous connection, Pulmonary artery stenosis, Tricuspid re... ORPHA:99125
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro... ORPHA:371428
Noonan Syndrome 12
Supravalvular aortic stenosis, Polyhydramnios, Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:618234
Hemochromatosis, Type 2A
Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Arrhythmia OMIM:602390
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Left atrial isomerism, Bilateral su... OMIM:605376
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Cardiomegal... ORPHA:1329
Atrial Septal Defect 1
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... OMIM:108800
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Congestive heart failure, Arrhythmia, C... ORPHA:34217
Craniofacioskeletal Syndrome
Patent ductus arteriosus, Interrupted aortic arch, Ventricular septal defect, Atrial septal defect OMIM:300712
Congenital Alpha2-Antiplasmin Deficiency
Hemothorax, Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleedin... ORPHA:79
Feingold Syndrome 1
Patent ductus arteriosus, Polyhydramnios, Ventricular septal defect, Interrupted aortic arch, Tri... OMIM:164280
Cardiomyopathy, Dilated, 2D
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... OMIM:619371
Monosomy 18Q
Patent ductus arteriosus, Left-to-right shunt, Aortic aneurysm, Congestive heart failure, Left ao... ORPHA:1600
1Q21.1 Microdeletion Syndrome
Patent ductus arteriosus, Interrupted aortic arch, Hydrocephalus, Abnormal cardiac septum morphology ORPHA:250989
Renal Tubular Dysgenesis
Polyhydramnios, Tetralogy of Fallot, Oligohydramnios ORPHA:3033
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Collagenoma, Familial Cutaneous
Cardiomyopathy, Right ventricular cardiomyopathy, Vasculitis, Congestive heart failure, Atrial fi... OMIM:115250
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Stroke-like episode, Congestive heart failure, Abnormal heart morpho... ORPHA:70472
Bannayan-Riley-Ruvalcaba Syndrome
Telangiectasia, Subcutaneous hemorrhage, Arteriovenous malformation, Aortic aneurysm, Angina pect... ORPHA:109
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent ductus arteriosus, Patent foramen ovale, Secundum atrial septal defect, Congestive heart f... OMIM:616866
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Tetralogy of Fallot, Abnormality of the pulmonary artery, Ventricular... ORPHA:1166
Desminopathy
Sudden cardiac death, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, Conges... ORPHA:98909
Mulibrey Nanism
Hydrops fetalis, Pericardial constriction, Congestive heart failure, Myocardial fibrosis, Cardiom... OMIM:253250
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Congestive heart failure ORPHA:324588
Atrioventricular septal defect 3
Pulmonary arterial hypertension, Atrioventricular canal defect, Inlet ventricular septal defect, ... OMIM:600309
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:617044
Distal 22Q11.2 Microdeletion Syndrome
Truncus arteriosus, Ventricular septal defect, Aortic aneurysm, Atrial septal defect, Aortic regu... ORPHA:261330
Cap Myopathy
Aortic root aneurysm, Sinus tachycardia, Reduced systolic function, Central hypoventilation ORPHA:171881
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism, Venous insufficiency, Purpura, Abnormal cerebral vascular morphology ORPHA:745
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, ... ORPHA:328
Epidermal Nevus Syndrome
Aortic aneurysm ORPHA:35125
Pulmonary Arteriovenous Malformation
Pulmonary arterial hypertension, Pulmonary hemorrhage, Telangiectasia, Ischemic stroke, Pleural e... ORPHA:2038
Gm1-Gangliosidosis, Type I
Hydrops fetalis, Death in infancy, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic... OMIM:230500
Methimazole Embryofetopathy
Polyhydramnios, Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta ORPHA:1923
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Perlman Syndrome
Interrupted aortic arch, Ascites, Edema, Polyhydramnios OMIM:267000
Lymphatic Malformation 7
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... OMIM:617300
Lateral Meningocele Syndrome
Patent ductus arteriosus, Meningocele, Aortic aneurysm, Short neck, Obstructive sleep apnea, Umbi... OMIM:130720
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Purpura, Cerebral hemorrhage OMIM:614514
Noonan Syndrome 8
Patent ductus arteriosus, Polyhydramnios, Webbed neck, Ventricular septal defect, Left ventricula... OMIM:615355
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Patent ductus arteriosus, Reduced left ventricular ejection fraction, Left ventricular noncompact... OMIM:616501
Fabry Disease
Lymphedema, Transient ischemic attack, Left ventricular hypertrophy, Congestive heart failure, An... OMIM:301500
Primary Ciliary Dyskinesia
Double outlet right ventricle, Hydrocephalus, Atrial situs ambiguous, Anomalous pulmonary venous ... ORPHA:244
Encephalocraniocutaneous Lipomatosis
Pulmonary arterial hypertension, Abnormal aortic morphology, Interrupted aortic arch, Coarctation... ORPHA:2396
Hemochromatosis, Type 2B
Congestive heart failure, Cardiomyopathy OMIM:613313
Diamond-Blackfan Anemia 6
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolap... OMIM:612561
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic v... OMIM:616652
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Subcutaneous hemorrhage, Abnormal cerebral vascular morphology, Purpura, Veno... ORPHA:743
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Congenital Disorder Of Glycosylation, Type Iie
Perimembranous ventricular septal defect, Secundum atrial septal defect, Congestive heart failure... OMIM:608779
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Supravalvular aorti... ORPHA:1461
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Noncompaction cardiomyopa... OMIM:610198
Cardiomyopathy, Dilated, 1Y
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas... OMIM:611878
Congenital Muscular Dystrophy Due To Lmna Mutation
Arrhythmia, Congestive heart failure, Death in infancy ORPHA:157973
Holt-Oram Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular ... ORPHA:392
Isotretinoin-Like Syndrome
Patent ductus arteriosus, Conotruncal defect, Bicuspid aortic valve, Hydrocephalus, Abnormal aort... ORPHA:2306
Alkaptonuria
Aortic aneurysm, Coronary artery calcification OMIM:203500
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Polyhydramnios, Ventricular septal defect, Redundant neck skin, Ab... OMIM:301056
Coach Syndrome 1
Hepatic fibrosis, Vascular dilatation, Encephalocele, Cirrhosis, Intrahepatic bile duct dilatatio... OMIM:216360
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgi... OMIM:212140
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Double outlet right ventricle, Hydrocephalus, Atrial septal defect OMIM:614886
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Hypertension, Coarctation of aorta OMIM:616069
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Low-output congestive heart failure ORPHA:91130
Gastritis, Familial Giant Hypertrophic
Vascular dilatation OMIM:137280
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... OMIM:163800
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Polyhydramnios, Congestive heart failure, Atrial septal defect ORPHA:500533
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect, Perimembranous vent... ORPHA:508498
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Patent ductus arteriosus, Patent foramen ovale, Interrupted aortic arch, Coarctation of aorta, Hy... ORPHA:17
Maternal Uniparental Disomy Of Chromosome X
Predominantly lower limb lymphedema, Short neck, Congestive heart failure, Low posterior hairline ORPHA:261519
Maternal Phenylketonuria
Double outlet right ventricle, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... ORPHA:2209
Phaver Syndrome
Myelomeningocele, Ventricular septal defect, Coarctation of aorta, Hypoplastic aortic arch, Pulmo... ORPHA:2876
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Pulmonary artery atresi... OMIM:612946
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Abnormal heart morphology,... ORPHA:261183
Naxos Disease
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... OMIM:601214
Diabetic Embryopathy
Abnormal aortic morphology, Spinal dysraphism, Abnormality of the neck, Ventricular septal defect... ORPHA:1926
Hemochromatosis, Type 1
Telangiectasia, Congestive heart failure, Pleural effusion, Arrhythmia, Cardiomegaly, Ascites, Ca... OMIM:235200
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Vascular dilatation, Bruising susceptibility, Aortic dissection, Varicose veins, Pulmonic stenosis OMIM:618343
Meester-Loeys Syndrome
Aortic root aneurysm, Ascending tubular aorta aneurysm, Pulmonary artery aneurysm, Bruising susce... OMIM:300989
Li-Campeau Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:619189
Neurooculocardiogenitourinary Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Redundant neck skin, A... OMIM:618652
Loeys-Dietz Syndrome 2
Abdominal aortic aneurysm, Aortic root aneurysm, Patent ductus arteriosus, Aortic arch aneurysm, ... OMIM:610168
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect OMIM:618330
American Trypanosomiasis
Congestive heart failure, Arrhythmia, Edema, Periorbital edema, Myocarditis, Cardiomyopathy ORPHA:3386
Polymyositis
Abnormal atrioventricular conduction, Abnormal mitral valve morphology, Congestive heart failure,... ORPHA:732
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Danon Disease
Second degree atrioventricular block, Increased QRS voltage, Severely reduced left ventricular ej... OMIM:300257
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vascular dilatation OMIM:617219
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly, Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Intellectual Developmental Disorder, Autosomal Dominant 66
Aortic root aneurysm, Transposition of the great arteries, Cerebral cavernous malformation OMIM:619910
22Q11.2 Deletion Syndrome
Meningocele, Polyhydramnios, Truncus arteriosus, Retinal arteriolar tortuosity, Abnormal aortic a... ORPHA:567
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Umbilical hernia, Perimembranous ventricula... OMIM:618651
Spinal Arteriovenous Metameric Syndrome
Arteriovenous malformation, Congestive heart failure, Spinal arteriovenous malformation ORPHA:53721
Boudin-Mortier Syndrome
Aortic root aneurysm, Elevated alkaline phosphatase of bone origin OMIM:619543
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Noonan Syndrome 9
Webbed neck, Ventricular septal defect, Coarctation of aorta, Short neck, Pulmonic stenosis OMIM:616559
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic root aneurysm, Aortic atherosclerotic lesion, Ventricular hypertrophy, Intracranial hemorr... ORPHA:363618
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Atrial septal defect, Tachycardia OMIM:613870
Pericardial And Diaphragmatic Defect
Patent ductus arteriosus, Mitral stenosis, Bicuspid aortic valve, Partial diaphragmatic absence o... ORPHA:2847
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect, Death in infancy OMIM:616277
Aneurysm-Osteoarthritis Syndrome
Abdominal aortic aneurysm, Patent ductus arteriosus, Umbilical hernia, Vascular dilatation, Pulmo... ORPHA:284984
Xk Aprosencephaly Syndrome
Polyhydramnios, Ventricular septal defect, Atrial septal defect ORPHA:3469
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy ORPHA:1349
Autosomal Recessive Multiple Pterygium Syndrome
Webbed neck, Aortic aneurysm, Spina bifida occulta, Low posterior hairline, Neonatal respiratory ... ORPHA:2990
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Arteriovenous malformation, Congestive heart failure, Venous insufficiency ORPHA:137608
Loeys-Dietz Syndrome 3
Aortic tortuosity, Abdominal aortic aneurysm, Patent ductus arteriosus, Tortuous cerebral arterie... OMIM:613795
Analbuminemia
Patent ductus arteriosus, Edema, Hypotension, Oligohydramnios OMIM:616000
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Webbed neck, Ventricular septal defect, Lymphedema, Predominantly lower... OMIM:153400
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Dk1-Cdg
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hy... ORPHA:91131
Primary Lipodystrophy
Hypertension, Congestive heart failure, Angina pectoris, Type IV atherosclerotic lesion, Cardiomy... ORPHA:90970
Ogden Syndrome
Torsade de pointes, Secundum atrial septal defect, Redundant neck skin, Premature atrial contract... OMIM:300855
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Vascular dilatation OMIM:617056
Familial Partial Lipodystrophy, Dunnigan Type
Atherosclerosis, Advanced eruption of teeth, Congestive heart failure, Hypertrophic cardiomyopath... ORPHA:2348
Lymphatic Malformation 8
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... OMIM:618773
Catel-Manzke Syndrome
Camptodactyly of finger, Ventricular septal defect, Atrial septal defect ORPHA:1388
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... OMIM:616249
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Congenital Tricuspid Stenosis
Pulmonary arterial hypertension, Hypotension, Bacterial endocarditis, Heart murmur, Congestive he... ORPHA:95459
X-Linked Intellectual Disability, Nascimento Type
Patent ductus arteriosus, Double outlet right ventricle, Pulmonary arterial hypertension, Patent ... ORPHA:163956
Glossopharyngeal Neuralgia
Jaw claudication, Vascular dilatation, Bradycardia, Syncope ORPHA:221098
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Anomalous pulmonary venous return, Tetralogy of Fallot, Communicating h... ORPHA:2184
Biliary, Renal, Neurologic, And Skeletal Syndrome
Polyhydramnios, Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Cardiac ... OMIM:619534
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Congestive heart failure OMIM:606703
Pparg-Related Familial Partial Lipodystrophy
Atherosclerosis, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Coronary ar... ORPHA:79083
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect OMIM:618974
Neonatal Marfan Syndrome
Aortic root aneurysm, Ascending tubular aorta aneurysm, Heart murmur, Hypoxemia, Emphysema, Mitra... ORPHA:284979
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Polyhydramnios, Dilated cardiomyopathy, Congestive heart failure, Nonimmune hydrops fetalis, Abno... ORPHA:367
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Mitral regurgitation OMIM:301039
Ehlers-Danlos Syndrome, Classic-Like, 2
Aortic root aneurysm, Carotid artery stenosis, Webbed neck, Bruising susceptibility, Prominent su... OMIM:618000
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hepatic arteriovenous malformation, Facial telangiectasia, Ischemic stroke, Spontaneous, recurren... OMIM:600376
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Camptodactyly, Arthrogryposis multiplex congenita, Atrial septal defec... OMIM:614262
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Congestive heart... ORPHA:324410
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect, Atrial septa... ORPHA:1913
Chromosome 18Q Deletion Syndrome
Patent ductus arteriosus, Ascending tubular aorta aneurysm, Asthma, Congestive heart failure, Sho... OMIM:601808
Tatton-Brown-Rahman Syndrome
Aortic root aneurysm, Patent ductus arteriosus, Supraventricular tachycardia with an accessory co... ORPHA:404443
Transaldolase Deficiency
Patent ductus arteriosus, Patent foramen ovale, Hepatic fibrosis, Cirrhosis, Telangiectasia, Vent... OMIM:606003
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Umbilical hernia, Macroglossia, Perimembranous ventricular septal defect, Ventricular septal defect OMIM:301040
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Stroke, Congestive heart failure ORPHA:3077
Down Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Atrioventricular canal defect, Patent fo... OMIM:190685
Wolcott-Rallison Syndrome
Double outlet right ventricle, Ascites, Atrial septal defect, Dehydration ORPHA:1667
Classic Multiminicore Myopathy
Mitral valve prolapse, Limited neck flexion, Congestive heart failure, Right ventricular failure,... ORPHA:324604
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
You-Hoover-Fong Syndrome
Double aortic arch, Vascular ring, Coarctation of aorta OMIM:616954
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Autosomal Dominant Cutis Laxa
Dilatation of the ventricular cavity, Bronchiectasis, Aortic aneurysm, Congestive heart failure, ... ORPHA:90348
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced left ventricular ejection fraction, Wolff-Parkinson-White syndrome, Left ventric... ORPHA:444013
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Kyphoscoliotic Ehlers-Danlos Syndrome
Antenatal intracerebral hemorrhage, Cerebral hemorrhage, Aortic aneurysm, Bruising susceptibility... ORPHA:536545
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Ventricular septal defect, Hepatomegaly OMIM:613730
Charge Syndrome
Patent ductus arteriosus, Polyhydramnios, Aortic arch aneurysm, Aqueductal stenosis, Abnormal car... ORPHA:138
Ehlers-Danlos Syndrome, Classic Type, 1
Aortic root aneurysm, Umbilical hernia, Recurrent sinusitis, Bruising susceptibility OMIM:130000
Histiocytoid Cardiomyopathy
Supraventricular tachycardia, Right bundle branch block, Ventricular septal defect, Pulmonary ede... ORPHA:137675
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Aortic root aneurysm, Respiratory insufficiency, Ascending tubular aorta aneurysm, Repeated pneum... ORPHA:536467
Hereditary Hemorrhagic Telangiectasia
Abnormal cerebral vascular morphology, Retinal telangiectasia, Subarachnoid hemorrhage, Pulmonary... ORPHA:774
Arterial Tortuosity Syndrome
Aortic tortuosity, Aortic root aneurysm, Ischemic stroke, Hypertension, Bruising susceptibility, ... OMIM:208050
Familial Multiple Nevi Flammei
Pulmonary embolism, Arteriovenous malformation, Intracranial hemorrhage, Venous insufficiency, Ar... ORPHA:624
Aicardi-Goutières Syndrome
Moyamoya phenomenon, Arrhinencephaly, Calcification of the aorta, Aortic aneurysm, Raynaud phenom... ORPHA:51
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Car... OMIM:609040
Meacham Syndrome
Patent ductus arteriosus, Conotruncal defect, Ventricular septal defect, Atrial septal defect, Co... ORPHA:3097
Kawasaki Disease
Ascending tubular aorta aneurysm, Hepatitis, Jaundice, Congestive heart failure, Pericarditis, Ch... ORPHA:2331
8Q24.3 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Truncus arteriosus, Ventricular septal d... ORPHA:508488
Acquired Purpura Fulminans
Macular purpura, Hepatic failure, Intracranial hemorrhage, Internal hemorrhage, Shock, Prolonged ... ORPHA:49566
Visceral Myopathy, Familial, With External Ophthalmoplegia
Vascular dilatation OMIM:277320
Autosomal Recessive Cutis Laxa Type 1
Respiratory insufficiency, Vascular dilatation, Dilatation of the ventricular cavity, Pneumothora... ORPHA:90349
Shprintzen-Goldberg Craniosynostosis Syndrome
Aortic aneurysm, Obstructive sleep apnea, Umbilical hernia OMIM:182212
Noonan Syndrome With Multiple Lentigines
Vascular dilatation, Webbed neck, Bundle branch block, Abnormality of the pulmonary artery, Spina... ORPHA:500
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Stillbirth, Ventricular septal defect, Atrial septal defect OMIM:263630
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Vitreous hemorrhage, Purpura OMIM:612304
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Polyhydramnios, Atrioventricular canal defect, Hydrocephalus, Dextrocardia, Persistent left super... OMIM:314390
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... OMIM:171420
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly, Congestive heart failure, Arrhythmia OMIM:266500
Familial Idiopathic Dilatation Of The Right Atrium
Complete heart block with narrow QRS complexes, Cardiomegaly, Abnormal cardiac ventricular functi... ORPHA:1677
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Atrial septal defect, Situs inversus totalis, Arrhythmia, Stroke, Card... OMIM:249270
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic val... ORPHA:284169
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Patent ductus arteriosus, Vascular dilatation, Abnormal cerebral vascular morphology, Arterial st... ORPHA:2637
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Congenital diaphragmatic hernia, Ventricular septal defect OMIM:615524
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Spinal dysraphism, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocepha... ORPHA:1908
Diaphragmatic Hernia 4, With Cardiovascular Defects