Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
actinin alpha 2
Synonyms:
1110008F24Rik

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 Actn2 mutations

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

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

The table below shows human diseases associated to Actn2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Actn2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... ORPHA:1457
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong... OMIM:613426
Cranioacrofacial Syndrome
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect OMIM:122850
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... ORPHA:1686
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Laubry-Pezzi Syndrome
Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Palpitations... ORPHA:99094
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Torticollis, Patent ductus arteriosus, Pulmonic ... OMIM:249670
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis OMIM:178651
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Supravalvular Aortic Stenosis
Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic stenosis, Pulmonic ... OMIM:185500
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Atrial Septal Defect 2
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... OMIM:607941
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:3092
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Congestive he... ORPHA:3400
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Aortic dissection, Anterior cerebral artery stenosis, Coronary artery ather... OMIM:132900
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic regurgitation, Aortic root aneurysm, Aortic dissection... ORPHA:229
Double Outlet Left Ventricle
Abnormal right ventricular function, Cardiomegaly, Pulmonary artery stenosis, Ventricular septal ... ORPHA:3427
Grange Syndrome
Aortic regurgitation, Arterial stenosis, Ventricular septal defect, Hypertension, Patent ductus a... ORPHA:79094
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... OMIM:613854
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Ciliary Dyskinesia, Primary, 53
Right aortic arch, Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Persistent left su... OMIM:620642
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Atrial septal defect, Camptodactyly, Arthrogryposis multiplex congenit... OMIM:614262
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Secundum atrial septal defect, Ventricular septal defect, Coarctation of aorta, Perimembranous ve... OMIM:600987
Aortic Valve Disease 2
Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Pa... OMIM:614823
Mungan Syndrome
Tricuspid regurgitation, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:611376
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Arrhythmia, Transposition of the great arteries, Paroxy... OMIM:617877
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Pulmonary artery dilatation, Tricuspid regurgitation, Palpitations, Bicuspi... OMIM:620067
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:618205
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri... OMIM:616201
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ar... ORPHA:3287
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Arterial stenosis, Cerebral artery atherosclerosis, Abnormal mitral valve morphology, Coronary ar... ORPHA:1192
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormal heart morphology, Muscular ventricular septal defect, Perimembranous ventricular septal ... ORPHA:363444
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia, Varicose veins, Peripheral arterial stenosis, Paten... OMIM:126320
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Congenital Disorder Of Glycosylation, Type Ih
Camptodactyly, Perimembranous ventricular septal defect, Patent ductus arteriosus, Neonatal death OMIM:608104
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Abnormality of the pulmona... ORPHA:1354
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def... OMIM:620294
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Tetralogy... OMIM:600001
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect, Camptodactyly OMIM:618804
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614432
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG OMIM:178650
Sarcosinemia
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis ORPHA:3129
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... ORPHA:1330
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Arterial stenosis, Carotid artery calcification... OMIM:208000
Atrial Septal Defect 4
Coarctation of aorta, Atrial septal defect, Patent foramen ovale OMIM:611363
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Tetra... OMIM:208530
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis, Pulmonary embolism OMIM:134400
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:210122
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T... OMIM:618654
Weill-Marchesani Syndrome
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve pro... ORPHA:228410
Criss-Cross Heart
Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep... ORPHA:1461
Cardiomyopathy, Familial Restrictive, 6
Tricuspid regurgitation, Pulmonary insufficiency, Restrictive cardiomyopathy, Pulmonic stenosis OMIM:619433
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... ORPHA:3384
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... ORPHA:185
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... OMIM:618496
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve OMIM:300958
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology, Neonatal death OMIM:601612
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Perimembranous ventricular septal defect, Atrial septal defect, Heart ... OMIM:158170
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Aortic root aneurysm, Generalized arterial tortuosity, Abdominal a... OMIM:610168
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abdominal aortic aneurysm, Bicuspid aortic valve, Carotid artery dilatation... ORPHA:91387
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p... OMIM:212093
Nephronophthisis 16
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Patent ductus arterio... OMIM:615382
Chromosome 6Q24-Q25 Deletion Syndrome
Tricuspid regurgitation, Mitral valve prolapse, Dysplastic tricuspid valve, Persistent fetal circ... OMIM:612863
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:618499
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Pulmonic stenosis OMIM:264140
Rhizomelic Syndrome
Pulmonic stenosis OMIM:268250
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persis... OMIM:609008
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Pulmonary... OMIM:265380
Monosomy 18Q
Aortic valve stenosis, Secundum atrial septal defect, Absence of the pulmonary valve, Congestive ... ORPHA:1600
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va... ORPHA:284169
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Left bundle branch block, Right atrial enla... OMIM:115197
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor... ORPHA:99050
Noonan Syndrome 9
Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect OMIM:616559
Congenital Disorder Of Glycosylation, Type Iie
Perimembranous ventricular septal defect, Secundum atrial septal defect, Skeletal muscle atrophy,... OMIM:608779
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Absence of the pulmonary valve, Congestive heart failure, Ventricular sept... OMIM:601808
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Sys... ORPHA:2299
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec... OMIM:619371
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Recombinant Chromosome 8 Syndrome
Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Double outlet righ... OMIM:179613
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Abnormal pulse pressure, Increased QRS voltage... ORPHA:3093
Metachondromatosis
Pulmonic stenosis OMIM:156250
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Mitral regurgitation, Ventricular septal defect, Left ventricular hy... OMIM:615355
Hoxha-Aliu Syndrome
Perimembranous ventricular septal defect, Atrial septal defect, Contracture of the proximal inter... OMIM:620662
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Aortic Aneurysm, Familial Thoracic 9
Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm, ... OMIM:616166
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Atrioventri... OMIM:613751
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... OMIM:108800
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:615279
Double Outlet Right Ventricle
Hypoplastic left heart, Tetralogy of Fallot, Heart murmur, Ventricular septal defect, Truncus art... ORPHA:3426
Genitopalatocardiac Syndrome
Transposition of the great arteries, Right aortic arch, Double outlet right ventricle, Ventricula... OMIM:231060
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Mitral regurgitation, Coro... OMIM:617168
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, Chylopericard... ORPHA:2414
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Atrial septal defect, Hypertension, Pu... OMIM:610205
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis OMIM:301950
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defe... ORPHA:508498
Halperin-Birk Syndrome
Perimembranous ventricular septal defect, Flexion contracture, Congenital diaphragmatic hernia OMIM:618651
Paget Disease Of Bone 6
Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Pulm... OMIM:619149
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Hypertension, Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def... OMIM:617205
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Pal... ORPHA:565612
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... OMIM:220210
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Serkal Syndrome
Congenital diaphragmatic hernia, Pulmonic stenosis, Ventricular septal defect ORPHA:139466
Hypermethioninemia Due To Adenosine Kinase Deficiency
Coarctation of aorta, Secundum atrial septal defect, Pulmonic stenosis, Skeletal muscle atrophy OMIM:614300
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Peripheral arterial stenosis, Retinal arteriolar constriction OMIM:124950
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Coronary artery fistula, Biventricular hypertrophy, Complete atrioventric... OMIM:619343
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ... OMIM:619657
Loeys-Dietz Syndrome 1
Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Hypoplasia of the musculature, Aor... OMIM:609192
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Persistent left superior vena cava, Overriding aorta, Double outlet right ve... ORPHA:3304
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect ORPHA:3405
Ogden Syndrome
Peripheral pulmonary artery stenosis, Secundum atrial septal defect, Torsade de pointes, Prematur... OMIM:300855
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Tetralogy of Fallot, Cong... OMIM:601186
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Mitral regurgitation, Premature arteriosclerosis, Abnormal internal carotid... ORPHA:391665
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification, Hypoplastic left heart, ... ORPHA:402075
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Abnormal cerebral vascular morphology, A... ORPHA:758
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric... OMIM:618901
Temple-Baraitser Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:611816
Holt-Oram Syndrome
Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Sinus bradycardia, Ve... OMIM:142900
Meacham Syndrome
Hypoplastic left heart, Aplasia of the right hemidiaphragm, Tetralogy of Fallot, Right aortic arc... OMIM:608978
Sneddon Syndrome
Arterial stenosis, Hypertension, Intracranial hemorrhage ORPHA:820
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic pulmonary valve, Ventricular septal defect OMIM:619103
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Macroglossia, Perimembranous ventricular septal defect, Ventricular septal defect OMIM:301040
Phace Association
Arterial stenosis, Ventricular septal defect, Aortic aneurysm, Coarctation of aorta, Anomalous br... OMIM:606519
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Paroxysmal atrial fibrillation, Atrioventricular ... ORPHA:392
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Mitral valve prolapse, Media... OMIM:177850
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Bundle branch block, Atrioventricular canal defect, Abnormal pulmona... ORPHA:500
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Grange Syndrome
Coronary artery stenosis, Renal artery stenosis, Bicuspid aortic valve, Carotid artery stenosis, ... OMIM:602531
Tangier Disease
Distal amyotrophy, Atherosclerosis, Facial diplegia, Coronary artery atherosclerosis, Left ventri... OMIM:205400
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Abnormal coronary artery morphology, Atrial septal defect, Tac... ORPHA:980
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Mitral regurgitation, Mitral stenosis, Mitral valve prolapse, Ventri... OMIM:616564
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Pulmonic stenosis ORPHA:137634
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic val... OMIM:612474
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Knee flexion contracture, Ventricular septal defect, Coronary artery ath... ORPHA:435638
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
Distal Deletion 19P
Tricuspid valve prolapse, Pulmonary valve atresia, Ventricular septal defect ORPHA:96129
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Truncus arteriosus, S... OMIM:615415
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Left superior ve... OMIM:306955
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Arterial stenosis, Ischemic stroke, Cerebral ischemia, Stroke, Cerebra... ORPHA:136
Adams-Oliver Syndrome 5
Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Right ventricula... OMIM:616028
Pparg-Related Familial Partial Lipodystrophy
Prominent veins on trunk, Congestive heart failure, Hypertrophic cardiomyopathy, Atherosclerosis,... ORPHA:79083
Kagami-Ogata Syndrome
Diastasis recti, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal defect... OMIM:608149
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Tyshchenko Syndrome
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:615102
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Aortic root aneurysm, Aortic dissection, Congestive heart failure, Hypert... ORPHA:3342
Developmental Delay, Language Impairment, And Ocular Abnormalities
Facial telangiectasia, Contracture of the proximal interphalangeal joint of the 5th finger, Pulmo... OMIM:620141
Fumarase Deficiency
Perimembranous ventricular septal defect OMIM:606812
Legius Syndrome
Supravalvar pulmonary stenosis OMIM:611431
Rubinstein-Taybi Syndrome 1
Hypoplastic left heart, Aortic isthmus hypoplasia, Mitral valve prolapse, Ventricular septal defe... OMIM:180849
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:2701
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Hypertrophic cardiomyopathy, Atherosclerosis, Myopathy, Coronary artery... ORPHA:2348
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Flexion contracture, Skeletal muscle atrophy, Pulmonic stenosis ORPHA:75496
Methimazole Embryofetopathy
Coarctation of aorta, Abnormal aortic morphology, Ventricular septal defect ORPHA:1923
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Ventricular septal defect, Trunc... OMIM:617478
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Joint contracture of the 5th finger, Joint contracture of the 4th finger, Patent foramen ovale, S... OMIM:618914
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
X-Linked Mandibulofacial Dysostosis
Pulmonic stenosis, Abnormal mitral valve morphology, Abnormality of the pulmonary artery ORPHA:1131
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Situs inv... ORPHA:3097
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Transposition of the great a... OMIM:253800
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Emanuel Syndrome
Aortic valve stenosis, Congenital diaphragmatic hernia, Truncus arteriosus, Ventricular septal de... OMIM:609029
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Arrhythmia, Atrial septal defect, Pulmonic stenosis OMIM:611553
3C Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:7
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Camptodactyly, Pulmonic stenosis, Ventricular septal defect OMIM:619123
Van Esch-O'Driscoll Syndrome
Pulmonary artery stenosis, Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect OMIM:301030
Cardiofaciocutaneous Syndrome 4
Ventricular septal hypertrophy, Abnormal aortic valve morphology, Pulmonic stenosis OMIM:615280
Costello Syndrome
Hypertrophic cardiomyopathy, Thickened Achilles tendon, Mitral valve prolapse, Ventricular septal... ORPHA:3071
Hypophosphatemic Rickets, Autosomal Recessive, 2
Pulmonic stenosis OMIM:613312
Rhizomelic Syndrome, Urbach Type
Pulmonic stenosis ORPHA:3098
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Tetra... ORPHA:2255
Robinow Syndrome
Abnormal heart morphology, Ventricular septal defect, Coarctation of aorta, Pulmonary valve atres... ORPHA:97360
Intellectual Developmental Disorder, Autosomal Dominant 45
Heart murmur, Pulmonic stenosis OMIM:617600
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Double outlet right ventricle, Pulmonary artery atresia, Abnormal left... OMIM:301056
Noonan Syndrome 2
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Mitral stenosis, Mitr... OMIM:605275
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Elbow flexion contracture, Facial telangiectasia, Joint contracture of t... OMIM:602782
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Congestive heart failure, A... ORPHA:363618
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atrial septal defect, Pulmonic stenosis OMIM:618282
Noonan Syndrome 6
Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613224
Peters Plus Syndrome
Hypoplastic left heart, Abnormality of the pulmonary artery, Abnormal pulmonary vein morphology, ... ORPHA:709
Cat Eye Syndrome
Hypoplastic left heart, Total anomalous pulmonary venous return, Tetralogy of Fallot, Ventricular... OMIM:115470
Emanuel Syndrome
Aortic valve stenosis, Congenital diaphragmatic hernia, Multiple joint contractures, Truncus arte... ORPHA:96170
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Vascular dilatation, Varicose veins, Camptodactyly, Pulmonic stenosis OMIM:618343
Noonan Syndrome 7
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:613706
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Pu... OMIM:100300
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrial reentry tachycardia, Atrioventricular canal defec... OMIM:270100
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:610733
Carpenter Syndrome 1
Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Transposition of t... OMIM:201000
Dysbetalipoproteinemia
Tendon xanthomatosis, Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, A... ORPHA:412
Cenani-Lenz Syndactyly Syndrome
Pulmonic stenosis OMIM:212780
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic cardiomyopathy, Tricuspi... OMIM:617506
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal cerebral vascular morphology, Arterial stenosis, Stroke, Vascular dilatation, Atrial sep... ORPHA:2637
Chime Syndrome
Tetralogy of Fallot, Pulmonary valve atresia, Transposition of the great arteries, Ventricular se... ORPHA:3474
Degcags Syndrome
Patent foramen ovale, Ventricular septal defect, Persistent left superior vena cava, Dysplastic p... OMIM:619488
Noonan Syndrome 3
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova... OMIM:609942
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Pulmonic stenosis, Skeletal muscle atrophy OMIM:615802
Pitt-Hopkins-Like Syndrome 2
Pulmonic stenosis OMIM:614325
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... OMIM:615067
Koolen-De Vries Syndrome
Aortic root aneurysm, Ventricular septal defect, Bicuspid aortic valve, Hypotrophy of the small h... OMIM:610443
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Arterial dissection, Aortic dissection, Camptodactyly of finger, Abnormal h... ORPHA:284984
Cardiac-Urogenital Syndrome
Interrupted aortic arch, Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypert... OMIM:618280
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Perimembranous ventricular septal defect, Contracture of the distal interphalangeal joint of the ... ORPHA:83617
Kabuki Syndrome 2
Atrioventricular canal defect, Coarctation of aorta, Atrial septal defect, Pulmonic stenosis OMIM:300867
Abdominal Obesity-Metabolic Syndrome 3
Stroke, Hypertension, Myocardial infarction, Coronary artery stenosis OMIM:615812
Intellectual Developmental Disorder, Autosomal Dominant 43
Pulmonic stenosis OMIM:616977
Coffin-Siris Syndrome 4
Macroglossia, Mitral atresia, Ventricular septal defect, Atrial septal defect, Pulmonary artery a... OMIM:614609
Noonan Syndrome 14
Aortic regurgitation, Hypertrophic cardiomyopathy, Mitral valve prolapse, Scapular winging, Pulmo... OMIM:619745
Mucopolysaccharidosis Type 2
Contractures of the large joints, Cardiomyopathy, Abnormal heart morphology, Abnormal heart valve... ORPHA:580
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Congestive heart failure, Elbow flexion contracture, Mitral regurgitation,... OMIM:608328
Monosomy 13Q34
Hematochezia, Epistaxis, Pulmonic stenosis, Common atrium ORPHA:96168
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Mitral valve prolapse, Pulmonar... OMIM:175050
Ehlers-Danlos Syndrome, Classic-Like, 2
Carotid artery stenosis, Aortic root aneurysm, Prominent superficial veins, Mitral valve prolapse OMIM:618000
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Patent ductus arteriosus,... OMIM:277600
Mucopolysaccharidosis Type 2, Severe Form
Macroglossia, Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Abnormal ... ORPHA:217085
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitat... OMIM:613795
Mucopolysaccharidosis Type 2, Attenuated Form
Macroglossia, Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Abnormal ... ORPHA:217093
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Bicuspi... OMIM:618164
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Mitral regurgitation, Myopathy, Pulmonary arterial hypertension, P... OMIM:612541
Toriello-Carey Syndrome
Cardiomyopathy, Tetralogy of Fallot, Coarctation of aorta, Abnormal cardiac septum morphology, Pa... ORPHA:3338
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Transient ischemic attack, Stroke, Carotid artery stenosis, Arteriosclerosis of small cerebral ar... OMIM:600142
Tangier Disease
Coronary artery stenosis, Facial diplegia, Left ventricular hypertrophy, Carotid artery stenosis,... ORPHA:31150
Ileal Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Arrh... ORPHA:100078
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Pulmonic stenosis OMIM:615508
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Ventricular hypertrophy, Aortic root aneurysm, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:620654
Hughes-Stovin Syndrome
Vasculitis, Pulmonary artery aneurysm, Pulmonary embolism, Arterial stenosis, Pulmonary arterial ... ORPHA:228116
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 3rd finger, Double outlet right ventricl... OMIM:618223
Chromosome 13Q33-Q34 Deletion Syndrome
Left ventricular hypertrophy, Small thenar eminence, Camptodactyly, Patent ductus arteriosus, Pul... OMIM:619148
Takenouchi-Kosaki Syndrome
Camptodactyly, Patent ductus arteriosus, Abnormal cardiac septum morphology, Pulmonic stenosis OMIM:616737
Watson Syndrome
Pulmonic stenosis OMIM:193520
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus,... OMIM:610759
Cerebrofacioarticular Syndrome
Abnormal heart morphology, Camptodactyly, Pulmonic stenosis ORPHA:314679
Brittle Cornea Syndrome
Camptodactyly, Pulmonic stenosis, Mitral valve prolapse ORPHA:90354
Leopard Syndrome 1
Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch block, Complete a... OMIM:151100
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Peripheral pulmonary artery stenosis, Valvular pulmonary stenosis, Patent foramen ovale, Bicuspid... OMIM:300707
Frontometaphyseal Dysplasia 2
Decreased muscle mass, Elbow contracture, Patent foramen ovale, Hip contracture, Bicuspid aortic ... OMIM:617137
Keutel Syndrome
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Ventricular septal defect, Hyp... OMIM:245150
Atelis Syndrome 2
Supravalvar pulmonary stenosis, Vitreous hemorrhage, Patent ductus arteriosus, Pulmonic stenosis OMIM:620185
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Diastasis recti, Ventricular septal defect, Macroglossia, Pulmonic stenosis ORPHA:488632
Williams Syndrome
Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Myopathy, Bicuspid aortic... ORPHA:904
Wiedemann-Rautenstrauch Syndrome
Camptodactyly of finger, Prominent scalp veins, Dysplastic pulmonary valve, Limb hypertonia, Cong... ORPHA:3455
Familial Thrombocytosis
Transient ischemic attack, Cerebral ischemia, Syncope, Pulmonary arterial hypertension, Periphera... ORPHA:71493
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... ORPHA:154
Mosaic Variegated Aneuploidy Syndrome 1
Embryonal rhabdomyosarcoma, Atrial septal defect, Pulmonic stenosis OMIM:257300
Microphthalmia, Syndromic 2
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Contracture of the proxi... OMIM:300166
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defec... OMIM:607721
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Skeletal muscle atrophy, Abnormal cerebral vas... ORPHA:79474
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Elbow flexion contracture, Prominent scal... ORPHA:536471
Legius Syndrome
Paroxysmal atrial tachycardia, Pulmonic stenosis, Mitral valve prolapse ORPHA:137605
Mayer-Rokitansky-Küster-Hauser Syndrome
Atrial septal defect, Pulmonic stenosis ORPHA:3109
Classical-Like Ehlers-Danlos Syndrome Type 2
Aortic root aneurysm, Prominent veins on trunk, Mitral valve prolapse, Carotid artery stenosis, V... ORPHA:536532
Cardiofaciocutaneous Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Atrial septal defect, Pulmonic sten... ORPHA:1340
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Aortic regurgitation, Ventricular hypertrophy, Camptodactyly of finger, Tr... OMIM:143095
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:222470
Menkes Disease
Gastrointestinal hemorrhage, Arterial stenosis, Venous insufficiency, Aplasia/Hypoplasia of the a... ORPHA:565
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Abnormal heart morphology, Cardiac conduction abnormality, Ventricular sep... ORPHA:353281
Gaisböck Syndrome
Elevated diastolic blood pressure, Coronary artery atherosclerosis, Stroke, Angina pectoris, Peri... ORPHA:90041
Costello Syndrome
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Arrhythmia, Atrial... OMIM:218040
Vascular Ehlers-Danlos Syndrome
Arterial dissection, Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric v... ORPHA:286
Cardiofaciocutaneous Syndrome 1
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:115150
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Abnormal heart morphology, Hand muscle atrophy, Ventricular septal defect, Bicusp... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Abnormal heart morphology, Hand muscle atrophy, Ventricular septal defect, Bicusp... ORPHA:363958
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Patent ductus arteriosus after birth at term, Pulmonic stenosis ORPHA:529962
17Q11 Microdeletion Syndrome
Rhabdomyosarcoma, Hypertrophic cardiomyopathy, Abnormal heart morphology, Dilatation of the cereb... ORPHA:97685
Noonan Syndrome 1
Hypertrophic cardiomyopathy, Ventricular septal defect, Coarctation of aorta, Atrial septal defec... OMIM:163950
Mowat-Wilson Syndrome
Abnormal heart morphology, Ventricular septal defect, Pulmonary artery sling, Pulmonary artery st... OMIM:235730
Neurofibromatosis-Noonan Syndrome
Secundum atrial septal defect, Pulmonic stenosis OMIM:601321
Williams-Beuren Syndrome
Peripheral pulmonary artery stenosis, Coronary artery stenosis, Myxomatous mitral valve degenerat... OMIM:194050
Hyperoxaluria, Primary, Type I
Atrioventricular block, Arterial occlusion, Intermittent claudication, Raynaud phenomenon, Periph... OMIM:259900
Cutis Marmorata Telangiectatica Congenita
Arterial stenosis, Telangiectasia of the skin, Arteriovenous malformation, Patent ductus arteriosus ORPHA:1556
Arboleda-Tham Syndrome
Secundum atrial septal defect, Lower limb hypertonia, Ventricular septal defect, Patent ductus ar... OMIM:616268
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hypertrophic cardiomyopathy, Abnormal heart morphology, Mitral regurgitation, Mitral valve prolap... ORPHA:363700
Femoral-Facial Syndrome
Camptodactyly of finger, Truncus arteriosus, Ventricular septal defect, Coarctation of aorta, Pat... OMIM:134780
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Abnormal heart morphology, Cardiac conduction abnormality, Patent foramen ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Abnormal heart morphology, Cardiac conduction abnormality, Patent foramen ... ORPHA:353277
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anomalous origin of left subclavian artery, Abnormal heart morphology, Patent foramen ovale, Vent... ORPHA:438213
Charge Syndrome
Secundum atrial septal defect, Tetralogy of Fallot, Right aortic arch, Ventricular septal defect,... OMIM:214800
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Cardiomyopathy, Diastasis recti, Congenital diaphragmati... OMIM:312870
Sitosterolemia 1
Carotid artery stenosis, Coronary artery atherosclerosis OMIM:210250
Neurofibromatosis Type 1
Arterial stenosis, Rhabdomyosarcoma, Hypertension ORPHA:636
Peters-Plus Syndrome
Diastasis recti, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Pulmo... OMIM:261540
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Hyphema, Abnormal heart morphology, Tetralogy of Fallot, Abnormal pulmonar... ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Abnormal heart morphology, Tetralogy of Fallot, Abnormal pulmonary valve m... ORPHA:261537
Mowat-Wilson Syndrome
Aortic valve stenosis, Abnormal heart morphology, Tetralogy of Fallot, Pulmonary artery sling, Bi... ORPHA:2152

Histopathology

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

There is no histopathology data for Actn2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Actn2.

No publications found that use IMPC mice or data for Actn2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Actn2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Actn2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Actn2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Actn2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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