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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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
Abnormality of blood circulation, Abnormal coronary artery morphology, Levotransposition of the g... ORPHA:860
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch OMIM:613751
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Thymic Aplasia With Fetal Death
Truncus arteriosus, Stillbirth OMIM:274210
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... OMIM:612474
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mir... OMIM:606217
Aortic Aneurysm, Familial Thoracic 7
Ascending aortic dissection, Descending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
Long Qt Syndrome 16
T-wave alternans, Patent ductus arteriosus after birth at term, Perimembranous ventricular septal... OMIM:618782
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Ascending tubular aorta aneurysm, Premature coronary artery atherosclerosis,... OMIM:611788
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Aorto-Ventricular Tunnel
Abnormal aortic morphology, Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary arte... ORPHA:3400
Familial Aortic Dissection
Aortic dissection, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, ... ORPHA:229
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Ventricular septal defect, Death in infancy, Truncus arteriosus, Tricusp... OMIM:617478
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Ascending tubular aorta aneurysm, Carotid artery stenosis, Cystic medial necro... OMIM:132900
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Ventricular arrhythmia, Vascular dilatation, Congestive heart failure, Im... OMIM:600884
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... OMIM:617912
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Ventricular septal defect, Abnormal aortic arch morphology, Abnormal descend... ORPHA:99050
Cardiac Lipidosis, Familial
Congestive heart failure, Death in infancy, Cardiomyopathy OMIM:212080
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Aortic Aneurysm, Familial Thoracic 8
Coronary artery aneurysm, Coronary artery dissection, Abdominal aortic aneurysm, Ascending aortic... OMIM:615436
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Webbed neck, Ventricular septal defect, Hydranencephaly, Truncus arteriosus OMIM:601355
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Truncus arteriosus, Neonatal death OMIM:228940
Congenital Heart Defects, Multiple Types, 7
Pulmonary artery atresia, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral arterie... OMIM:618780
Truncus Arteriosus
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary edem... ORPHA:3384
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism, Peripheral arterial stenosis OMIM:134400
Aortic Arch Interruption
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Intermitte... ORPHA:2299
Cardiomyopathy, Familial Hypertrophic, 15
Hypertrophic cardiomyopathy, Congestive heart failure, Endocardial fibrosis OMIM:613255
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:617349
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, ... OMIM:616749
Aorta Coarctation
Bicuspid aortic valve, Hypertension, Coarctation of the descending aortic arch, Persistent left s... ORPHA:1457
Endocardial Fibroelastosis
Congestive heart failure, Endocardial fibroelastosis, Cardiomyopathy OMIM:226000
Congenital Heart Defects, Multiple Types, 2
Atrial fibrillation, Aortic regurgitation, Aortic aneurysm, Tetralogy of Fallot, Aortic valve ste... OMIM:614980
Scimitar Syndrome
Left-to-right shunt, Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arterios... ORPHA:185
Congenital Gerbode Defect
Right ventricular failure, Constrictive pericarditis, Left-to-right shunt, Vascular dilatation, H... ORPHA:99095
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Transient ischemic attack, Anomalous pu... ORPHA:1330
Periventricular Nodular Heterotopia
Abnormal bleeding, Aortic regurgitation, Patent ductus arteriosus, Aortic aneurysm ORPHA:98892
Mass Syndrome
Aortic aneurysm OMIM:604308
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Truncus arteriosus, Situs inversus totalis, Stillbirth, Pulmonic ste... OMIM:615415
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Aortic aneurysm ORPHA:261102
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Ventricular septal defect, Patent ductus arteriosus, Aortic arch... ORPHA:1455
Coronary Arterial Fistula
Coronary artery aneurysm, Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Vascular dila... ORPHA:2041
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Ventricular septal defect, Truncus arteriosus, Webbed neck, Short neck ORPHA:2516
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Abnormal infer... ORPHA:980
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Atrial fibrillation, Aortic tortuosity OMIM:616166
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Atrial ... OMIM:601927
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Death in infancy, Double outlet right ventricle, Patent ductus arteriosus,... OMIM:618845
Fixed Subaortic Stenosis
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Ventricular septal defect, Mitral regur... ORPHA:3092
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect OMIM:212090
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... OMIM:617205
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia OMIM:609909
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Abnormal left ventricular function, Congestive heart failure, Sudden card... OMIM:605362
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Edema, Cardiomyocyte hypertrophy, Death in adole... OMIM:605676
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Syncope, Congestive heart failure OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Syncope, Congestive heart failure OMIM:613697
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Fibromuscular Dysplasia, Arterial
Aortic dissection, Renovascular hypertension, Arterial fibromuscular dysplasia, Intermittent clau... OMIM:135580
Familial Atrial Myxoma
Bacterial endocarditis, Cardiac myxoma, Ascites, Cardiomegaly, Tricuspid regurgitation, Vascular ... ORPHA:615
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:607941
Double Outlet Right Ventricle
Ventricular septal defect, Truncus arteriosus, Double outlet right ventricle, Coarctation of aort... ORPHA:3426
Isolated Polycystic Liver Disease
Hepatomegaly, Respiratory insufficiency, Polycystic liver disease, Gastrointestinal hemorrhage, V... ORPHA:2924
Adams-Oliver Syndrome 6
Ventricular septal defect, Portal hypertension, Truncus arteriosus, Tricuspid regurgitation OMIM:616589
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... OMIM:615373
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart OMIM:601348
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Aortic dissection, Mucoid extracellular matrix accumulation, Asthma, Aortic aneurysm OMIM:130090
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Cystic hygroma, P... OMIM:618164
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Ventricular septal defect, Dilatation of... ORPHA:99094
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
Aneurysm Of Interventricular Septum
Vascular dilatation OMIM:105805
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, Atrial septal defect, P... ORPHA:401935
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Elevated... OMIM:613759
Telangiectasia, Hereditary Benign
Diffuse telangiectasia, Vascular dilatation OMIM:187260
Takayasu Arteritis
Hypertrophic cardiomyopathy, Hypertension, Ascending tubular aorta aneurysm, Abnormal pattern of ... ORPHA:3287
Familial Cerebral Saccular Aneurysm
Aortic dissection, Hypertension, Intracranial hemorrhage, Abnormal circle of Willis morphology, C... ORPHA:231160
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Paroxysmal dyspnea, Descending thoracic aorta aneurysm, Aortic root aneurysm, Patent ductus arter... ORPHA:91387
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death OMIM:613172
Meacham Syndrome
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Death in infancy, Persistent left... OMIM:608978
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect, Umbilical hernia, Patent ductus arteriosus OMIM:615297
Marfanoid Hypermobility Syndrome
Aortic regurgitation, Mitral regurgitation, Aortic aneurysm OMIM:154750
Cardiomyopathy, Familial Hypertrophic, 1
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy, Subvalvular aortic stenosis OMIM:192600
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Transposition of the great arteries, Hypoplas... ORPHA:1727
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Coarctation of aorta, Pulm... OMIM:613426
Klippel-Trénaunay Syndrome
Ascites, Edema, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Gastrointestinal h... ORPHA:90308
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Right aortic arch OMIM:617577
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... OMIM:615248
Loeffler Endocarditis
Left atrial enlargement, Eosinophilia, Aortic valve stenosis, Pericarditis, Mitral regurgitation,... ORPHA:75566
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Pulmonary insufficiency, Mitral regurgitation, Double outlet right ventri... ORPHA:2326
Aortic Valve Disease 2
Calcification of the aorta, Coarctation of aorta, Aortic aneurysm OMIM:614823
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Multisystemic Smooth Muscle Dysfunction Syndrome
Hypertension, Abnormal aortic morphology, Tachypnea, Pulmonary arterial hypertension, Patent duct... OMIM:613834
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Igg4-Related Aortitis
Aortic dissection, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Abnormal co... ORPHA:449400
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Torticollis, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... OMIM:249670
Ventricular Septal Defect 3
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Temtamy Syndrome
Aortic aneurysm ORPHA:1777
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia, Patent ductus arteriosus, Varicose veins, Pedal ede... OMIM:126320
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Death in infancy, Abnormal mitral valve morphology, Abnormal tricuspid... ORPHA:1354
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:617992
Vein Of Galen Aneurysmal Malformation
Peripheral arteriovenous fistula, Vascular dilatation ORPHA:1053
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta, Aortic valve stenosis OMIM:241550
Cardiac Diverticulum
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Abnormal coronary artery origin, Mitral steno... ORPHA:1686
Idiopathic Pulmonary Arterial Hypertension
Syncope, Abnormal jugular vein morphology, Right ventricular hypertrophy, Palpitations, Pulmonary... ORPHA:275766
Arterial Calcification, Generalized, Of Infancy, 1
Hypertension, Generalized arterial calcification, Coronary artery calcification, Myocardial infar... OMIM:208000
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Right ventricular dilatation, Atrial fibrillation, Systolic heart murmur, Ca... ORPHA:99105
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... OMIM:608751
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Persistent left superior vena cava, Abnormal ... OMIM:614954
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Grange Syndrome
Hypertension, Ventricular septal defect, Aortic regurgitation, Patent ductus arteriosus, Arterial... ORPHA:79094
Hypoplastic Left Heart Syndrome
Mitral atresia, Mitral stenosis, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal ... ORPHA:2248
Fadd-Related Immunodeficiency
Decreased liver function, Ventricular septal defect, Pulmonary artery atresia, Hepatic fibrosis ORPHA:306550
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly, Limb hypertonia OMIM:619170
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Hypertension, Coronary artery calcification, Congestive heart failure OMIM:614473
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Patent ductus arteriosus, Cerebral ischemia... ORPHA:1880
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Dysplastic tricuspid valve, Neonatal death, Patent ductus arteriosus, Misa... OMIM:265380
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... ORPHA:45453
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Coarctation of aorta, Respiratory insufficiency, Patent ductus arteriosus OMIM:601612
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferas... OMIM:614876
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Premature coronary artery atherosclerosis, Hypertension, Congestive heart ... OMIM:615703
Microphthalmia, Syndromic 9
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Single ventricle, Right a... OMIM:601186
Aortic Valve Disease 1
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... OMIM:109730
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Pulmonic stenosis, Atrial septal defect... OMIM:220210
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Peripheral arteriovenous fistula, Congestive heart failure, Prominent... ORPHA:141179
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal arteriolar tortuosity, Dilatation of the cerebral artery, Raynaud phenomenon, Vascular di... OMIM:611773
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Aortic dissection, Telangiectasia, Mitral regurgitation, Epistaxis, Pulmonary arteriovenous malfo... OMIM:175050
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Congestive heart failure, Atrial fibrillation, Mitral regurgitation OMIM:617047
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Abnormal heart valve morphology, Congestive heart fail... ORPHA:1345
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect, Polyhydramnios OMIM:616920
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Ventricular septal defect, Patent ductus arteriosus, Oligohydramnios, Arrhythmia OMIM:617021
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Hypoplastic tricuspid val... OMIM:600001
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Emanuel Syndrome
Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmonic stenosis, Thick... OMIM:609029
Vascular Hyalinosis
Vascular dilatation, Subarachnoid hemorrhage, Hematochezia OMIM:277175
Congenital Aortic Valve Stenosis
Abnormal T-wave, Reduced ejection fraction, Angina pectoris, Increased QRS voltage, Abnormal puls... ORPHA:3093
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Double outlet right ventricle, Joint contracture of the hand, Patent d... OMIM:179613
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Systolic heart murmur, Right bundle branch block, Cardiomegaly, Tricus... ORPHA:439
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... OMIM:601494
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Vascular dilatation OMIM:225755
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Pulmonic stenosis, Transposition of the great arteries,... OMIM:617877
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Double outlet right ventricle, Patent ductus arteriosus, Atrial septal... OMIM:618316
Johnson Neuroectodermal Syndrome
Right aortic arch, Ventricular septal defect, Patent ductus arteriosus OMIM:147770
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Hydrops Fetalis, Nonimmune
Nonimmune hydrops fetalis, Congestive heart failure, Hydrops fetalis OMIM:236750
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation OMIM:226100
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... OMIM:612158
Familial Dilated Cardiomyopathy
Right ventricular dilatation, Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, ... ORPHA:217607
Sandhoff Disease
Congestive heart failure, Cherry red spot of the macula ORPHA:796
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Left-to-right shunt, Abnormal heart morphology, Perimembranous ventricular septal defect, Patent ... ORPHA:363444
Endocardial Fibroelastosis
Endocardial fibroelastosis, Congestive heart failure, Restrictive cardiomyopathy ORPHA:2022
Acrocardiofacial Syndrome
Ventricular septal defect, Death in infancy, Truncus arteriosus, Coarctation of aorta, Mitral ste... ORPHA:2008
Spinal Muscular Atrophy, Type I
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Ventricular septal defect, Atrial s... OMIM:253300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Syncope, Ventricular arrhythmia, Palpitations, Vascular dilatation, Dilatation of the ventricular... OMIM:609040
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Rin2 Syndrome
Umbilical hernia, Bruising susceptibility, Aortic aneurysm ORPHA:217335
Velocardiofacial Syndrome
Interrupted aortic arch, Ventricular septal defect, Umbilical hernia, Right aortic arch with mirr... OMIM:192430
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... OMIM:108900
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Peripheral arteriovenous fistula, Congestive heart failure, Prominent... ORPHA:141184
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Hydrocephalus OMIM:603387
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal aortic morphology, Abnormal tricuspid valve morphology, Polyh... ORPHA:3405
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Arrhythmia, Cardiomyopathy OMIM:616198
Phace Association
Coarctation of aorta, Anomalous branches of internal carotid artery, Patent ductus arteriosus, Ao... OMIM:606519
Aortic Aneurysm, Familial Thoracic 10
Abdominal aortic aneurysm, Mitral regurgitation, Aortic root aneurysm, Aortic arch aneurysm, Coro... OMIM:617168
Cranioacrofacial Syndrome
Ventricular septal defect, Dupuytren contracture, Pulmonic stenosis OMIM:122850
Ventricular Septal Defect 1
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:614429
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Abnormal... ORPHA:563
Fetal Minoxidil Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:1918
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Ventricular escape rhythm, Reduced ejection fraction... ORPHA:1344
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure OMIM:301021
Combined Oxidative Phosphorylation Deficiency 25
Vascular dilatation OMIM:616430
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Ventricular septal defect, Hypoplasia of right ventricle, Hypoplastic tr... ORPHA:2255
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:618234
Wyburn-Mason Syndrome
Cerebral hemorrhage, Gingival bleeding, Epistaxis, Vascular dilatation, Subarachnoid hemorrhage, ... ORPHA:53719
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Persistent left superior vena cava, Double outlet right ventricle, Patent ductus arteriosus, Pulm... ORPHA:3304
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Pericardial effusion, Ventricular arrhythmia, Atrial fibrillatio... ORPHA:300751
Temtamy Syndrome
Aortic regurgitation, Aortic aneurysm OMIM:218340
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger ORPHA:1937
Sandestig-Stefanova Syndrome
Short neck, Perimembranous ventricular septal defect, Camptodactyly, Muscular ventricular septal ... OMIM:618804
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Ascites, Pulmonary arterial hypertension, Tricuspid regurgitation, Pulmonic ste... ORPHA:2414
Aneurysm Of Sinus Of Valsalva
Bacterial endocarditis, Dilatation of the sinus of Valsalva, Aortic regurgitation, Edema, Congest... ORPHA:1054
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Syncope, Third heart sound, Abnormally loud pulmonic component of the se... ORPHA:99106
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Infantile Sialic Acid Storage Disease
Ascites, Cardiomegaly, Hydrocephalus, Congestive heart failure, Death in childhood, Hydrops fetalis OMIM:269920
Hb Bart'S Hydrops Fetalis
Pericarditis, Polyhydramnios, Oligohydramnios, Hydrocephalus, Congestive heart failure, Hydrops f... ORPHA:163596
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Vascular dilatation OMIM:614859
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Pericardial effus... OMIM:115200
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Aortic dissection, Abnormal carotid artery morphology, Myocarditis, Hyper... ORPHA:3342
Mungan Syndrome
Perimembranous ventricular septal defect, Tricuspid regurgitation, Pulmonic stenosis OMIM:611376
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Vascular dilatation, Patent ductus arteriosus OMIM:220220
Emanuel Syndrome
Ventricular septal defect, Redundant neck skin, Truncus arteriosus, Patent ductus arteriosus, Pul... ORPHA:96170
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis OMIM:617222
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Abnormal aortic morphology, Arrhythmia, Cardiomyopathy ORPHA:3222
Telangiectasia, Hereditary Hemorrhagic, Type 4
Dilatation of celiac artery, Cerebral hemorrhage, Lip telangiectasia, Ischemic stroke, Spinal art... OMIM:610655
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly, Hydrocephalus OMIM:300886
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Mitral regurgitation, Ede... ORPHA:363705
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal defect, Cardiac arrest, C... ORPHA:49827
Fragile X Syndrome
Sinusitis, Ascending tubular aorta aneurysm ORPHA:908
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis OMIM:618496
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus OMIM:617516
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Aortic dissection, Abnormal venous morphology, Arterial rupture, Aortic aneurysm, Arterial dissec... ORPHA:1900
Indomethacin Embryofetopathy
Ventricular septal defect, Cardiomyopathy, Oligohydramnios, Atrial septal defect, Hydrops fetalis ORPHA:1909
Lambert Syndrome
Ventricular septal defect, Intrahepatic biliary atresia, Branchial anomaly, Cholestasis, Jaundice ORPHA:1296
Atrial Standstill 2
Atrial standstill, Palpitations, Bradycardia, Cardiomyopathy, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Capillary Malformation-Arteriovenous Malformation
Arteriovenous fistula, Telangiectasia, Lymphedema, Nonimmune hydrops fetalis, Abnormal heart morp... ORPHA:137667
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal ST segment, Congestive heart failure, Abnormal left ventricle morpholog... ORPHA:1055
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Arrhythmia, Congestive heart failure ORPHA:225
Giant Cell Arteritis
Aortic dissection, Abdominal aortic aneurysm, Pericarditis, Double outlet right ventricle with su... ORPHA:397
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation OMIM:611878
Chilblain Lupus 2
Edema, Vasculitis OMIM:614415
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... OMIM:607450
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Congestive heart failure, Left ventricular hypertrophy ORPHA:206546
Osteogenesis Imperfecta, Type I
Bruising susceptibility, Aortic aneurysm OMIM:166200
Familial Cutaneous Collagenoma
Congestive heart failure, Atrial septal defect, Cardiomyopathy, Angina pectoris ORPHA:53296
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cava, Abnormal he... ORPHA:477817
Cirrhotic Cardiomyopathy
Left atrial enlargement, Global systolic dysfunction, Reduced ejection fraction, Ventricular arrh... ORPHA:57777
Cutis Laxa, Autosomal Recessive, Type Ia
Ascending tubular aorta aneurysm, Supravalvular aortic stenosis, Vascular tortuosity, Emphysema, ... OMIM:219100
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Mitral valve prolapse, Mitral regurgitation, Short chordae tendineae of th... OMIM:314400
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Ventricular hypertrophy, Bradycardia, Congestive heart failure OMIM:619048
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hypertension, Left ventricular hypertrophy, Congestive heart failure, Wolff-Parkinson-White syndr... OMIM:540000
Loeys-Dietz Syndrome 4
Aortic dissection, Ascending tubular aorta aneurysm, Torticollis, Aortic root aneurysm, Arterial ... OMIM:614816
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Coarctation of aorta, Pulmonic stenosis, Decreased liver function, Hepatic steat... OMIM:614300
8P23.1 Duplication Syndrome
Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis ORPHA:251076
Butyrylcholinesterase Deficiency
Myocardial infarction, Congestive heart failure ORPHA:132
Hutchinson-Gilford Progeria Syndrome
Premature coronary artery atherosclerosis, Precocious atherosclerosis, Myocardial infarction, Con... OMIM:176670
Loeys-Dietz Syndrome
Aortic dissection, Arterial tortuosity, Patent ductus arteriosus, Aortic aneurysm, Arterial disse... ORPHA:60030
Hyperphosphatasia With Mental Retardation Syndrome 6
Short neck, Vascular dilatation, Elevated circulating alkaline phosphatase concentration OMIM:616809
Familial Progressive Cardiac Conduction Defect
Syncope, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia ORPHA:871
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure, Polyhydramnios OMIM:616794
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Atrioventricular canal defect, Situs inversus totalis, Double outlet right ventricl... OMIM:605376
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Right ventricular failure, Telangiectasia, Hypertension, Arter... OMIM:178600
Heparin-Induced Thrombocytopenia
Myocardial infarction, Pulmonary embolism, Cerebral ischemia, Abnormal onset of bleeding ORPHA:3325
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus OMIM:617044
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Congestive heart failure OMIM:618654
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Right atrial iso... OMIM:208530
Pseudoxanthoma Elasticum
Hypertension, Angina pectoris, Restrictive cardiomyopathy, Telangiectasia of the skin, Thickened ... ORPHA:758
Feingold Syndrome Type 1
Interrupted aortic arch, Tricuspid atresia, Tricuspid stenosis, Abnormal heart morphology, Multip... ORPHA:391641
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Reduced ejection fraction, Angina pectoris, Res... ORPHA:85451
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of ri... OMIM:610338
Timothy Syndrome
Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Bradycardia, Patent ductus arteri... OMIM:601005
Transaldolase Deficiency
Telangiectasia, Biventricular hypertrophy, Edema, Coarctation of aorta, Atrial septal defect, Hyd... ORPHA:101028
Congenital Tracheomalacia
Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Pulmonary a... ORPHA:95430
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Tachypnea, Pulmonary arterial hypertension, Vascular dilatation, Short neck OMIM:613320
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypertrophic cardiomyopathy, Death in infancy, Abnormal aortic valve morphology, Oligohydramnios,... ORPHA:1194
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Patent ductus arteriosus, Elevated pulmonary artery pressure, Thoracic aortic aneurysm, Bidirecti... OMIM:619351
Dural Sinus Malformation
Arteriovenous fistula, Cerebral hemorrhage, Carotid cavernous fistula, Intracranial hemorrhage, S... ORPHA:97339
Pseudoxanthoma Elasticum
Hypertension, Mitral valve prolapse, Accelerated atherosclerosis, Retinal hemorrhage, Renovascula... OMIM:264800
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Mitral atresia, Double outlet right ventricle, Single ve... OMIM:306955
Parkes Weber Syndrome
Arteriovenous fistula, Abnormal lymphatic vessel morphology, Spinal arteriovenous malformation, A... ORPHA:90307
Glycogen Storage Disease Due To Acid Maltase Deficiency
Basilar artery calcification, Exertional dyspnea, Vasculitis, Transient ischemic attack, Sleep ap... ORPHA:365
Congenital Contractural Arachnodactyly
Aortic aneurysm ORPHA:115
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Ventricular septal defect, Intracranial hemorrhage, Patent ductus arteri... ORPHA:163979
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Ventricular septal defect, Patent ductus arteriosus, Varicos... OMIM:153400
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... ORPHA:330001
Atrial Septal Defect 1
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Persistent left super... OMIM:108800
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome OMIM:614947
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Mitral atresia, Low-output congestive heart failure, Single ventricle,... ORPHA:99125
Perlman Syndrome
Interrupted aortic arch, Edema, Ascites, Polyhydramnios OMIM:267000
Telangiectasia, Hereditary Hemorrhagic, Type 1
Spinal arteriovenous malformation, Spontaneous, recurrent epistaxis, Pulmonary arteriovenous malf... OMIM:187300
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:602390
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Varicose veins, Vascular dilatation, Bruising susceptibility OMIM:618343
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Barth Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Congestive heart... OMIM:302060
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Ascites, Cardiomegaly, Cardiomyopathy, Bradycardia, Pulmonary edema, C... OMIM:261740
Caroli Disease, Isolated
Hepatomegaly, Cholangitis, Vascular dilatation, Portal hypertension, Liver abscess OMIM:600643
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Pulmonary arterial hypertension, Cough, Vasculitis, Pulmonary embolism... ORPHA:228116
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Abnormally loud pulmonic component of the second heart sound, Pulmonary venous occlusion, Elevate... OMIM:265450
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... ORPHA:99103
Familial Bicuspid Aortic Valve
Hypertension, Aortic regurgitation, Coarctation of aorta, Aortic arch aneurysm, Ascending aortic ... ORPHA:402075
Noonan Syndrome 12
Supravalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot, Polyhydramnios OMIM:618624
Craniofacioskeletal Syndrome
Interrupted aortic arch, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:300712
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Ventricular septal defect, Ascending tubular aorta aneurysm, Right atrial isomerism... OMIM:270100
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... ORPHA:90065
Naxos Disease
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Sudden cardiac deat... ORPHA:34217
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Mitral valve prolapse, Double out... ORPHA:371428
Complete Atrioventricular Septal Defect
Right ventricular failure, Complete atrioventricular canal defect, Primum atrial septal defect, L... ORPHA:1329
Alport Syndrome
Hypertension, Abnormal aortic morphology, Stridor, Renal glomerular foam cells, Cough, Aortic ane... ORPHA:63
Isotretinoin-Like Syndrome
Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Conotruncal defect, Abnormality of ... ORPHA:2306
Myopathy, Myosin Storage, Autosomal Recessive
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure OMIM:255160
Desminopathy
Concentric hypertrophic cardiomyopathy, Atrioventricular block, Congestive heart failure, Sudden ... ORPHA:98909
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Death in infancy, Reduced ejection fraction, Mitral regurgitation, Pulmon... OMIM:619371
Atrioventricular Septal Defect 3
Hypertension, Primum atrial septal defect, Atrioventricular canal defect, Pulmonary arterial hype... OMIM:600309
Collagenoma, Familial Cutaneous
Atrial fibrillation, Cardiomyopathy, Tricuspid regurgitation, Vasculitis, Congestive heart failur... OMIM:115250
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Ventricular septal defect, Abnormality of the pulmonary artery, Tetra... ORPHA:1166
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Death in infancy, Cherry red spot of the mac... OMIM:230500
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral regurgitation, Webbed neck, Patent... OMIM:615355
Pulmonary Arteriovenous Malformation
Hypoxemia, Telangiectasia, Palpitations, Epistaxis, Pulmonary arterial hypertension, Pulmonary ar... ORPHA:2038
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:261120
Methimazole Embryofetopathy
Ventricular septal defect, Coarctation of aorta, Abnormal aortic morphology, Polyhydramnios ORPHA:1923
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Atrial septal defect, Hydrocephalus, Patent ductus arteriosus OMIM:614886
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Varicose veins, Atrial sept... OMIM:617300
Renal Tubular Dysgenesis
Oligohydramnios, Tetralogy of Fallot, Polyhydramnios ORPHA:3033
Hypertelorism And Tetralogy Of Fallot
Patent ductus arteriosus, Tetralogy of Fallot, Tetralogy of Fallot with absent pulmonary valve, S... OMIM:239711
Mulibrey Nanism
Pericardial constriction, Ascites, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, H... OMIM:253250
Diamond-Blackfan Anemia 6
Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, Ventricular hypertrophy, ... OMIM:612561
Hemochromatosis, Type 2B
Congestive heart failure, Cardiomyopathy OMIM:613313
Encephalocraniocutaneous Lipomatosis
Interrupted aortic arch, Abnormal aortic morphology, Coarctation of aorta, Pulmonary arterial hyp... ORPHA:2396
Congenital Muscular Dystrophy Due To Lmna Mutation
Death in infancy, Arrhythmia, Congestive heart failure ORPHA:157973
Bannayan-Riley-Ruvalcaba Syndrome
Telangiectasia, Intracranial hemorrhage, Subcutaneous hemorrhage, Aortic aneurysm, Arteriovenous ... ORPHA:109
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Hydrocephalus, Abnormal cardiac septum morphology, Patent ductus arteriosus ORPHA:250989
Primary Ciliary Dyskinesia
Persistent left superior vena cava, Situs inversus totalis, Abnormal heart morphology, Double out... ORPHA:244
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Pulmonary artery aneurysm, Pulmonary artery dilatation, Arterial tortuos... OMIM:614437
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Congestive heart failure OMIM:606703
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Abnormal mitral valve morphology, Supravalvular ao... ORPHA:1461
Epidermal Nevus Syndrome
Aortic aneurysm ORPHA:35125
Digeorge Syndrome
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Right aortic arch with mi... OMIM:188400
Distal 22Q11.2 Microdeletion Syndrome
Ventricular septal defect, Truncus arteriosus, Branchial fistula, Aortic regurgitation, Aortic an... ORPHA:261330
Marfanoid Habitus With Situs Inversus
Obstructive sleep apnea, Persistent left superior vena cava, Aortic root aneurysm, Aortic regurgi... OMIM:609008
Holt-Oram Syndrome
Ventricular septal defect, Abnormal aortic morphology, Atrioventricular canal defect, Atrioventri... ORPHA:392
Gastritis, Familial Giant Hypertrophic
Vascular dilatation OMIM:137280
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Prolonged QT interval, Noncompaction cardiomyopathy, Congestive heart fai... OMIM:610198
Seckel Syndrome 10
Hypertension, Abdominal aortic aneurysm, Hepatic steatosis, Elevated circulating alanine aminotra... OMIM:617253
Hadziselimovic Syndrome
Ventricular septal defect, Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot, Pu... OMIM:612946
Monosomy 18Q
Left-to-right shunt, Mitral regurgitation, Patent ductus arteriosus, Aortic aneurysm, Congestive ... ORPHA:1600
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Ventricular septal defect, Tachycardia, Patent ductus arteriosus, Atrial septal defect OMIM:613870
Maternal Phenylketonuria
Ventricular septal defect, Double outlet right ventricle, Abnormal heart morphology, Coarctation ... ORPHA:2209
Maternal Uniparental Disomy Of Chromosome X
Low posterior hairline, Short neck, Congestive heart failure, Predominantly lower limb lymphedema ORPHA:261519
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Low-output congestive heart failure ORPHA:91130
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Redundant neck skin, Cardiomegaly, Patent ductus arteriosus, Tricuspid... OMIM:618652
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, Co... ORPHA:261183
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Cardiomyopathy, Patent ductus arteriosus, Oligohydramnios, Congestive heart failure, Secundum atr... OMIM:616866
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Congestive heart failure ORPHA:324588
Hemochromatosis, Type 1
Telangiectasia, Ascites, Cardiomegaly, Cardiomyopathy, Congestive heart failure, Pleural effusion... OMIM:235200
Diabetic Embryopathy
Abnormal aortic morphology, Ventricular septal defect, Abnormality of the neck, Transposition of ... ORPHA:1926
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Purpura, Venous insufficiency, Pulmonary embolism ORPHA:745
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Ventricular septal defect, Hypoplastic left heart, Anencephaly ORPHA:2476
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Atrioventricular canal defe... ORPHA:508498
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Arthrogryposis multiplex congenita, Pulmonic stenosis, Atrial septal d... OMIM:614262
Phaver Syndrome
Ventricular septal defect, Myelomeningocele, Coarctation of aorta, Pulmonary artery atresia, Hypo... ORPHA:2876
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
American Trypanosomiasis
Myocarditis, Edema, Cardiomyopathy, Congestive heart failure, Periorbital edema, Arrhythmia ORPHA:3386
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Reduced ejection fraction, Aortic regurgitation, Patent ductus arter... OMIM:616501
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Redundant neck skin, Double outlet right ventricle, Polyhydramnios, Pu... OMIM:301056
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertension, Intracranial hemorrhage, Mitral valve calcification, Mitral regurgitation, Ventricu... ORPHA:363618
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vascular dilatation OMIM:617219
Polymyositis
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Pericarditis, Abnormal mitral valve morpholo... ORPHA:732
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect, Congestive heart failure, Polyhydramnios ORPHA:500533
Loeys-Dietz Syndrome 2
Pulmonary artery aneurysm, Ascending tubular aorta aneurysm, Descending thoracic aorta aneurysm, ... OMIM:610168
Fabry Disease
Lymphedema, Hypertension, Ventricular septal hypertrophy, Left ventricular hypertrophy, Myocardia... OMIM:301500
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypertrophic cardiomyopathy, Interrupted aortic arch, Coarctation of aorta, Patent ductus arterio... ORPHA:17
Spinal Arteriovenous Metameric Syndrome
Spinal arteriovenous malformation, Congestive heart failure, Arteriovenous malformation ORPHA:53721
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Purpura, Pulmonary embolism, Subcutaneous hemorrhage ORPHA:743
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Umbilical hernia, Flex... OMIM:618651
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Autosomal Recessive Cutis Laxa Type 1
Abnormal systemic arterial morphology, Abnormal cardiac ventricular function, Respiratory insuffi... ORPHA:90349
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Abnormal heart morphology, Congestive heart failure ORPHA:70472
Cap Myopathy
Aortic root aneurysm, Central hypoventilation, Reduced systolic function, Sinus tachycardia ORPHA:171881
Li-Campeau Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus OMIM:619189
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Hydrocephalus, Abnormal cardiac septum morphology, Mitral regurgitation ORPHA:83473
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Macroglossia, Ventricular septal defect, Perimembranous ventricular septal defect, Umbilical hernia OMIM:301040
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Congestive heart failure, Venous insufficiency, Arteriovenous malformation ORPHA:137608
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect, Polyhydramnios ORPHA:3469
Dk1-Cdg
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac fibrosis, Congestive hear... ORPHA:91131
Noonan Syndrome 9
Ventricular septal defect, Webbed neck, Coarctation of aorta, Pulmonic stenosis, Short neck OMIM:616559
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Catel-Manzke Syndrome
Ventricular septal defect, Atrial septal defect, Camptodactyly of finger ORPHA:1388
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Palpitations, Abnormal heart morphology, Congenital diaphragmatic hernia, ... ORPHA:2847
Coffin-Siris Syndrome 10
Persistence of primary teeth, Ventricular septal defect OMIM:618506
Analbuminemia
Edema, Oligohydramnios, Hypotension, Patent ductus arteriosus OMIM:616000
Loeys-Dietz Syndrome 3
Aortic dissection, Abdominal aortic aneurysm, Atrial fibrillation, Mitral regurgitation, Dilatati... OMIM:613795
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Telangiectasia, Hereditary Hemorrhagic, Type 2
Spinal arteriovenous malformation, Spontaneous, recurrent epistaxis, Pulmonary arteriovenous malf... OMIM:600376
Coach Syndrome 1
Hypertension, Hepatomegaly, Hepatic fibrosis, Cirrhosis, Vascular dilatation, Intrahepatic bile d... OMIM:216360
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Vascular dilatation OMIM:617056
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Peripheral pulmonary artery stenosis, Double outlet right ventricle, P... ORPHA:163956
22Q11.2 Deletion Syndrome
Arrhinencephaly, Truncus arteriosus, Patent ductus arteriosus, Gastrointestinal hemorrhage, Varic... ORPHA:567
Alkaptonuria
Coronary artery calcification, Aortic aneurysm OMIM:203500
Cednik Syndrome
Congestive heart failure ORPHA:66631
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot, Pulmonary arterial hypertension OMIM:300887
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Advanced eruption of teeth, Congestive heart failure, Atherosclerosi... ORPHA:2348
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Edema, Stillbirth, Pedal edema OMIM:152800
Primary Lipodystrophy
Hypertension, Type IV atherosclerotic lesion, Cardiomyopathy, Congestive heart failure, Angina pe... ORPHA:90970
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Cardiomegaly, Congestive heart failure OMIM:212140
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:618974
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Aneurysm-Osteoarthritis Syndrome
Aortic dissection, Abdominal aortic aneurysm, Atrial fibrillation, Mitral regurgitation, Dilatati... ORPHA:284984
Biliary, Renal, Neurologic, And Skeletal Syndrome
Left-to-right shunt, Neonatal death, Patent ductus arteriosus, Hydrocephalus, Common atrium, Port... OMIM:619534
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Telangiectasia, Hepatic fibrosis, Coarctation of aorta, ... OMIM:606003
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Double outlet right ventricle, Webbed neck, Patent ductus arteriosus, Pulmonic stenosis, Atrial s... OMIM:618223
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Hypertension, Ventricular septal defect, Pulmonary arterial hypertension, Patent ductus arteriosu... OMIM:608406
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:1349
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Vascular dilatation, Bradycardia ORPHA:221098
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Classic Multiminicore Myopathy
Right ventricular failure, Mitral valve prolapse, Limited neck flexion, Right ventricular hypertr... ORPHA:324604
Congenital Tricuspid Stenosis
Tricuspid stenosis, Pulmonary arterial hypertension, Tricuspid regurgitation, Congestive heart fa... ORPHA:95459
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta ORPHA:1110
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Abnormal atri... ORPHA:324410
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... OMIM:618773
Fetal Trimethadione Syndrome
Transposition of the great arteries, Ventricular septal defect, Atrial septal defect, Tetralogy o... ORPHA:1913
Lethal Congenital Contracture Syndrome 10
Stiff neck, Ventricular septal defect, Torticollis, Cardiomegaly, Oligohydramnios, Overriding aor... OMIM:617022
Microgastria-Limb Reduction Defects Association
Asplenia, Splenogonadal fusion, Absent gallbladder, Type I truncus arteriosus, Secundum atrial se... OMIM:156810
Autosomal Recessive Multiple Pterygium Syndrome
Neonatal respiratory distress, Webbed neck, Aortic aneurysm, Low posterior hairline, Spina bifida... ORPHA:2990
Kyphoscoliotic Ehlers-Danlos Syndrome
Cerebral hemorrhage, Antenatal intracerebral hemorrhage, Subdural hemorrhage, Arterial rupture, A... ORPHA:536545
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Hypertension, Prominent veins on trunk, Congestive heart failure, At... ORPHA:79083
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary v... ORPHA:2184
Senior-Loken Syndrome 8
Hepatic cysts, Vascular dilatation OMIM:616307
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Short neck, Abnormal aortic morphology, Patent ductus arteriosus ORPHA:2001
Myofibrillar Myopathy 11
Reduced forced vital capacity, Coarctation of aorta OMIM:619178
Chromosome 18Q Deletion Syndrome
Ascending tubular aorta aneurysm, Patent ductus arteriosus, Congestive heart failure, Asthma, Sho... OMIM:601808
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Giant cell hepatitis, Right ventricular hypertrophy, Arthrogryposis mu... OMIM:613404
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Tachypnea, Coarctation of aorta, Pulmonary arterial hypertension, Decreased methionine synthase a... OMIM:614857
Catel-Manzke Syndrome
Dextrocardia, Ventricular septal defect, Coarctation of aorta, Cystic hygroma, Overriding aorta, ... OMIM:616145
Charge Syndrome
Interrupted aortic arch, Abnormal aortic valve morphology, Holoprosencephaly, Patent ductus arter... ORPHA:138
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Neonatal Marfan Syndrome
Hypoxemia, Ascending tubular aorta aneurysm, Neonatal respiratory distress, Abnormal echocardiogr... ORPHA:284979
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Giant cell hepatitis, Right ventricular hypertrophy, Arthrogryposis mu... OMIM:208085
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Nonimmune hydrops fetalis, Ascites, Polyhydramnios, Abnormal cardiomyocyt... ORPHA:367
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cerebral edema, Congestive heart failure OMIM:611126
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EKG, Arrhythmia OMIM:310200
Refsum Disease, Classic
Congestive heart failure, Arrhythmia, Cardiomegaly, Cardiomyopathy OMIM:266500
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arteriovenous malformation, Venous insufficiency, Pulmonary embolism, Ar... ORPHA:624
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Hepatic cysts, Stillbirth OMIM:263630
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Ventricular hypertro... ORPHA:284169
Meacham Syndrome
Ventricular septal defect, Conotruncal defect, Situs inversus totalis, Coarctation of aorta, Pate... ORPHA:3097
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Left ventricular hypertrophy, Congest... ORPHA:444013
Cleft Palate, Cardiac Defects, And Mental Retardation
Ventricular septal defect, Atrial septal defect, Coarctation of aorta OMIM:600987
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Hypertension, Granulomatous coronary arteritis, Vascular dilatation, Elevated circulating alkalin... OMIM:108050
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Webbed neck, Bundle branch block, Pulmonic stenosis, Myocardial infa... ORPHA:500
Autosomal Dominant Cutis Laxa
Redundant neck skin, Peripheral pulmonary artery stenosis, Mitral regurgitation, Bronchiectasis, ... ORPHA:90348
Boudin-Mortier Syndrome
Aortic root aneurysm, Elevated alkaline phosphatase of bone origin OMIM:619543
Congenital Factor X Deficiency
Menorrhagia, Subarachnoid hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:328
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Increased hepatic glycogen conte... OMIM:614921
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Vitreous hemorrhage OMIM:612304
Menkes Disease
Intracranial hemorrhage, Prolonged neonatal jaundice, Spontaneous hematomas, Gastrointestinal hem... ORPHA:565
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Prolonged QT interval, Atrial fibrillation, Tachycardia, Bradycardia, Hepatic steat... OMIM:613327
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Edema, Polyhydramnios OMIM:607598
Wolcott-Rallison Syndrome
Double outlet right ventricle, Atrial septal defect, Dehydration, Ascites ORPHA:1667
Visceral Myopathy, Familial, With External Ophthalmoplegia
Vascular dilatation OMIM:277320
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Syncope, Paroxysmal atrial fibrillation, Atrial septal dil... ORPHA:1677
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ascending tubular aorta aneurysm OMIM:309520
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Atransferrinemia
Congestive heart failure OMIM:209300
Cardiogenic Shock
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated jugular venous pres... ORPHA:97292
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Ventricular septal defect, Hypoplastic left atrium OMIM:615524
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Moyamoya phenomenon, Prolonged neonatal jaundice, Elevated hepatic t... ORPHA:51
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Endocarditis, Recurrent intrapulmonary he... ORPHA:183
Gm1 Gangliosidosis
Ventricular septal defect, Cherry red spot of the macula, Abnormal heart morphology, Cardiomyopat... ORPHA:354
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Asplenia, Annular pancreas, Atrioventricular ca... ORPHA:210122
Hereditary Hemorrhagic Telangiectasia
Gastrointestinal hemorrhage, Transient ischemic attack, Pulmonary embolism, Portal hypertension, ... ORPHA:774
7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Aortic aneurysm, Aortic valve stenosis, Short neck, Tracheomalacia ORPHA:96121
Cheilitis Glandularis
Vascular dilatation OMIM:118330
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Splenomegaly, Atrial septal de... ORPHA:290
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitati... OMIM:616564
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Vascular dilatation, Hydrocephalus, Polyhydramnios OMIM:219730
Cardiac Valvular Defect, Developmental
Tricuspid atresia, Mitral valve prolapse, Arteria lusoria, Edema, Mitral stenosis, Tricuspid valv... OMIM:212093
Mucopolysaccharidosis-Plus Syndrome
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Atrial septal defect, Congestive heart fai... OMIM:617303
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Tetralogy of Fallot, D... OMIM:600460
Kawasaki Disease
Myocarditis, Ascending tubular aorta aneurysm, Pericarditis, Double outlet right ventricle with s... ORPHA:2331
Tatton-Brown-Rahman Syndrome
Mitral regurgitation, Aortic root aneurysm, Tricuspid regurgitation, Patent ductus arteriosus, Su... ORPHA:404443
Mental Retardation, Autosomal Dominant 21
Coarctation of aorta, Patent ductus arteriosus OMIM:615502
Tuberous Sclerosis Complex
Hypertension, Hepatic cysts, Aortic aneurysm, Pulmonary lymphangiomyomatosis, Respiratory distres... ORPHA:805
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Loeys-Dietz Syndrome 1
Pulmonary artery aneurysm, Descending thoracic aorta aneurysm, Dilatation of the ductus arteriosu... OMIM:609192
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure ORPHA:85446
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Ascending tubular aorta aneurysm, Respiratory insufficiency, Atelectasis, Torticollis, Aortic roo... ORPHA:536467
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertrophic cardiomyopathy, Accelerated atherosclerosis, Ventricular arrhythmia, Precocious athe... ORPHA:280365
Shprintzen-Goldberg Craniosynostosis Syndrome
Obstructive sleep apnea, Umbilical hernia, Aortic aneurysm OMIM:182212
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Hypoxemia, Exertional dyspnea, Abnormal pulmonary vein morphology, Ele... ORPHA:199241
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Double outlet right ventricle, Patent ductus arteriosus, Semilobar hol... OMIM:301043
Eisenmenger Syndrome
Right ventricular failure, Syncope, Left-to-right shunt, Ventricular arrhythmia, Patent ductus ar... ORPHA:97214
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Mitral regurgitation OMIM:301039
Zimmermann-Laband Syndrome 1
Hepatomegaly, Aortic root aneurysm, Cardiomyopathy, Delayed eruption of teeth, Aortic arch aneury... OMIM:135500
Congenital Alpha2-Antiplasmin Deficiency
Intracranial hemorrhage, Gingival bleeding, Joint hemorrhage, Persistent bleeding after trauma, A... ORPHA:79
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Ventricular septal defect, Anencephaly, Holoprosencephaly, Situs inversus totalis, T... ORPHA:1908
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Patent ductus arteriosus, Broad neck, Atrial septal defect, Low poster... OMIM:300963
Alg3-Cdg
Coarctation of the descending aortic arch, Cardiomyopathy, Neural tube defect ORPHA:79321
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Abnormal heart morphology, Diastasis recti, Large placenta, Umbilical ... ORPHA:254534
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm, Ventricular septal defect, Hypoplastic left heart, Secundum at... OMIM:618901
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Marfan Syndrome
Meningocele, Dilatation of an abdominal artery, Ascending tubular aorta aneurysm, Pulmonary arter... ORPHA:558
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Ventricular septal defect, Webbed neck, Pulmonic stenosis, Atrial se... OMIM:615279
Congenital Generalized Lipodystrophy
Hypertrophic cardiomyopathy, Low posterior hairline, Congestive heart failure, Prominent superfic... ORPHA:528
Immune-Mediated Necrotizing Myopathy
Myocarditis, Palpitations, Congestive heart failure, Raynaud phenomenon ORPHA:206569
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Vascular dilatation, Arterial stenosis, Patent ductus arteriosus ORPHA:2637
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Atrial septal defect, Camptodactyly OMIM:613458