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Gene: Arid2 MGI:1924294

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Gene Summary

Name:
AT-rich interaction domain 2
Synonyms:
4432409D24Rik,  1700124K17Rik,  zipzap/p200

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Arid2tm1a(EUCOMM)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 50% (1 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images
Arid2tm1a(EUCOMM)Wtsi
head, HET, Male, WTSI
Arid2tm1a(EUCOMM)Wtsi
head, HET, Male, WTSI
Arid2tm1a(EUCOMM)Wtsi
body, HET, Male, WTSI
Arid2tm1a(EUCOMM)Wtsi
head, HET, Male, WTSI
Arid2tm1a(EUCOMM)Wtsi
body, HET, Male, WTSI

View all 99 images

Arid2tm1a(EUCOMM)Wtsi
abnormal pupil morphology, corneal opacity, impaired pupillary reflex, abnormal placement of pupils, narrow eye opening, HET, Male, WTSI
Arid2tm1a(EUCOMM)Wtsi
eye, abnormal placement of pupils, abnormal pupil morphology, HET, Female, WTSI
Arid2tm1a(EUCOMM)Wtsi
eye, abnormal retinal pigmentation, HET, Female, WTSI
Arid2tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Arid2tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Arid2tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Arid2 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 Arid2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Coffin-Siris Syndrome
Prominent eyelashes, Hypertrichosis, Abnormal heart morphology, Tetralogy of Fallot, Thick eyebro... ORPHA:1465
Coffin-Siris Syndrome 6
Atrial septal defect, Diaphragmatic eventration OMIM:617808

The table below shows human diseases predicted to be associated to Arid2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... OMIM:615779
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... ORPHA:1330
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... OMIM:613424
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... ORPHA:185
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Ped... ORPHA:2299
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Genitopalatocardiac Syndrome
Transposition of the great arteries, Right aortic arch, Double outlet right ventricle, Ventricula... OMIM:231060
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... OMIM:618845
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Atrial Septal Defect 2
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... OMIM:607941
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
Cranioacrofacial Syndrome
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect OMIM:122850
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop... OMIM:614676
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:3092
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Recombinant Chromosome 8 Syndrome
Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Low posterior hair... OMIM:179613
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Ventricular septal defect, Neonatal death, Dextrocardia... OMIM:619534
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Torticollis, Patent ductus arteriosus, Pulmonic ... OMIM:249670
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... ORPHA:1457
Double Outlet Right Ventricle
Hypoplastic left heart, Pulmonary artery atresia, Tetralogy of Fallot, Heart murmur, Ventricular ... ORPHA:3426
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia, Distichiasis, Varicose veins, Peripheral arterial s... OMIM:126320
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... ORPHA:1686
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Lo... OMIM:220210
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Persistent left superior vena cava, Overriding aorta, Double outlet right ve... ORPHA:3304
Indomethacin Embryofetopathy
Cardiomyopathy, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Hydrops fetalis ORPHA:1909
Congenital Gerbode Defect
Holosystolic murmur, Ventricular septal defect, Elevated jugular venous pressure, Right atrial en... ORPHA:99095
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Grange Syndrome
Aortic regurgitation, Arterial stenosis, Ventricular septal defect, Hypertension, Patent ductus a... ORPHA:79094
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... OMIM:163800
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ... OMIM:619657
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Eng-Strom Syndrome
Camptodactyly of finger, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong... OMIM:613426
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Pulmonary artery atresi... ORPHA:99050
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Pate... OMIM:616276
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Highly arched eyebrow, Hypertrichosis, Tetralogy of Fallot, Patent forame... OMIM:618316
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
Ebstein Malformation Of The Tricuspid Valve
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Cerebral ischemia, Imperforate ... ORPHA:1880
Mitral Valve Prolapse 2
Mitral regurgitation, Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral regurgitation, Mitral valve prolapse OMIM:610840
Criss-Cross Heart
Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep... ORPHA:1461
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Left superior ve... OMIM:306955
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Hirsutism, Bicuspid aor... ORPHA:371428
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... OMIM:619343
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Highly arched eyebrow, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu... ORPHA:2326
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... OMIM:115197
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec... OMIM:619371
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Distal amyotrophy, Abnormal heart morphology, Foot dorsiflexor weakness, Patent foramen ovale, Ve... ORPHA:477817
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrial reentry tachycardia, Atrioventricular canal defec... OMIM:270100
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Lymphedema, Oligohydramnios, Ventricular septal defect, Overriding aorta, Atrial ... OMIM:601927
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, Abnormal mitral valve m... ORPHA:1354
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Short chordae tendineae ... OMIM:314400
Laubry-Pezzi Syndrome
Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Palpitations... ORPHA:99094
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection, ... OMIM:616166
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... OMIM:212093
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function OMIM:619492
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral regurgitation, Mitral valve prolapse, Ventri... OMIM:612561
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Atrial septal defect, Camptodactyly, Arthrogryposis multiplex congenit... OMIM:614262
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Tetralogy of Fallot, Partial diaphragmatic absence of pericardium, Pal... ORPHA:2847
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Pulmonary edema, Atrial s... ORPHA:980
X-Linked Intellectual Disability, Nascimento Type
Abnormal hair whorl, Peripheral pulmonary artery stenosis, Lumbar hypertrichosis, Tetralogy of Fa... ORPHA:163956
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Hirsutism, Double outlet right ventricle, Polyhydramnios, Pulmonary ar... OMIM:301056
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Tetra... OMIM:208530
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... OMIM:108800
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Noonan Syndrome 12
Tetralogy of Fallot, Supravalvular aortic stenosis, Polyhydramnios, Ventricular septal defect OMIM:618624
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Pal... ORPHA:565612
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Situs inversu... OMIM:605376
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Ebstein Anomaly
Atrial standstill, Ebstein anomaly of the tricuspid valve, Right bundle branch block, Atrial sept... OMIM:224700
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve pro... ORPHA:228410
Naxos Disease
Sparse body hair, Premature ventricular contraction, Arrhythmia, Curly hair, Sparse eyebrow, Abno... OMIM:601214
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... OMIM:601005
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Highly arched eyebrow, Tetralogy of Fallot, Congenital diaphragmatic her... OMIM:300887
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Stroke, Atria... ORPHA:49827
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abnormal inferior... ORPHA:244
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular septal defect, Polyhydramnios, Arthr... OMIM:607598
Mitral Valve Prolapse 1
Mitral regurgitation, Mitral valve prolapse OMIM:157700
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Polyh... ORPHA:3405
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... OMIM:615067
Classic Multiminicore Myopathy
Muscular dystrophy, Right ventricular failure, Congestive heart failure, Muscle fiber atrophy, Mu... ORPHA:324604
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Persistent fetal circulat... ORPHA:363705
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Generalized edema, Tetralogy of Fallot, Right aortic arch, Ventricular s... OMIM:617478
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
High anterior hairline, Dilated cardiomyopathy, Ventricular bigeminy, Dry hair, Coarse hair, Tric... OMIM:620519
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation, Ventricular septal defect, L... OMIM:615355
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Abnormality of the hairline, Double outlet right ventricle, Patent ductus a... OMIM:614886
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Mitral valve prolapse, Stroke, Arrhythmia, ... ORPHA:230839
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Ventricular septal defect, Atrial septal defect, Tachyca... OMIM:613870
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Aortic root aneurysm, Double outlet right ventricle, Ventricular septal de... OMIM:616652
Weill-Marchesani Syndrome
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Mitral valve prolapse, Peau ... OMIM:177850
Meacham Syndrome
Hypoplastic left heart, Aplasia of the right hemidiaphragm, Tetralogy of Fallot, Scimitar anomaly... OMIM:608978
Cap Myopathy
Increased variability in muscle fiber diameter, Aortic root aneurysm, Sinus tachycardia, Lower li... ORPHA:171881
Giant Cell Arteritis
Vasculitis, Epistaxis, Alopecia, Aortic dissection, Double outlet right ventricle with subpulmona... ORPHA:397
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Second degree atrioventricular block, Ascites, Oligohydramnios, Ventricular septal defect, Nonimm... OMIM:617021
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Pulmonary artery atresia, Mitral atresia, Abnormal... OMIM:618164
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se... OMIM:618652
Double Outlet Left Ventricle
Abnormal right ventricular function, Cardiomegaly, Ventricular septal defect, Pulmonary artery st... ORPHA:3427
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Paroxysmal atrial fibrillation, Atrioventricular ... ORPHA:392
Optic Atrophy 8
Mitral regurgitation, Mitral valve prolapse OMIM:616648
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Grange Syndrome
Coronary artery stenosis, Renal artery stenosis, Bicuspid aortic valve, Carotid artery stenosis, ... OMIM:602531
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Atrial septa... ORPHA:1913
Maternal Phenylketonuria
Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect... ORPHA:2209
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Curly hair, Pulmoni... OMIM:615279
Down Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten... OMIM:190685
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Cerebral berry aneurysm, Hypertension, Mitral regurgitation, Mitral valve prolapse OMIM:173900
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... ORPHA:555874
Abdominal Obesity-Metabolic Syndrome 3
Stroke, Hypertension, Myocardial infarction, Coronary artery stenosis OMIM:615812
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persis... OMIM:609008
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Situs inv... ORPHA:3097
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Portal hypertension, Ventricular septal defect, Truncus arteriosus OMIM:616589
Mass Syndrome
Ascending aortic dissection, Aortic aneurysm, Mitral valve prolapse OMIM:604308
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect OMIM:617044
Noonan Syndrome 9
Sparse eyebrow, Ventricular septal defect, Coarctation of aorta, Curly hair, Pulmonic stenosis OMIM:616559
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept... OMIM:620609
Noonan Syndrome 10
Sparse eyebrow, Hypertrophic cardiomyopathy, Increased nuchal translucency, Pleural effusion, Mit... OMIM:616564
Ferguson-Bonni Neurodevelopmental Syndrome
Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia, Patent foramen ovale OMIM:619699
Wolcott-Rallison Syndrome
Ascites, Double outlet right ventricle, Atrial septal defect, Dehydration ORPHA:1667
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 3rd finger, Low anterior hairline, Doubl... OMIM:618223
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Yellow nails, Chylothorax, Lymphedema, Tetralogy of Fallot, ... OMIM:153400
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Patent ductus ... ORPHA:97214
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric... OMIM:618901
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:210122
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus OMIM:601355
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure... ORPHA:324410
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Ventricular septal defect OMIM:209770
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Von Willebrand Disease, Type 1
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Gastrointestinal angiodysplasia, M... OMIM:193400
Serkal Syndrome
Oligohydramnios, Congenital diaphragmatic hernia, Pulmonic stenosis, Ventricular septal defect ORPHA:139466
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... ORPHA:261183
Chromosome 6Q24-Q25 Deletion Syndrome
Right ventricular dilatation, Tricuspid regurgitation, Mitral valve prolapse, Dysplastic tricuspi... OMIM:612863
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Pulmonary... OMIM:265380
Distal Deletion 15Q
Hypoplastic left heart, Abnormal aortic arch morphology, Double outlet right ventricle with doubl... ORPHA:1596
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
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
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... ORPHA:2306
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Atrioventricular canal ... ORPHA:251071
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicus... ORPHA:555877
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Atrial septal defect, Hypertension, Pu... OMIM:610205
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Neonatal death, Ventricular septal defect, Atrial septal defect, Patent ... OMIM:620024
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Congenital diaphragmatic hernia, Ventricular septal defect, Abnormal car... OMIM:614294
Methimazole Embryofetopathy
Polyhydramnios, Coarctation of aorta, Abnormal aortic morphology, Ventricular septal defect ORPHA:1923
Polysyndactyly With Cardiac Malformation
Polyhydramnios, Stillbirth, Atrial septal defect, Ventricular septal defect OMIM:263630
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Mitral regurgitation, Premature arteriosclerosis, Calcification of the aort... ORPHA:391665
Diabetic Embryopathy
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular... ORPHA:1926
Holt-Oram Syndrome
Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Sinus bradycardia, Ve... OMIM:142900
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Tetralogy... OMIM:600001
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Biventricular hypert... OMIM:618280
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Alopecia totalis, Ventricular septal defect, Persistent fetal circul... OMIM:618775
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:2184
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Tetralogy of Fallot, Cong... OMIM:601186
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Ventricular septal defect, ... ORPHA:1727
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Highly arched eyebrow, Peripheral pulmonary artery stenosis, Joint contracture of the hand, Spars... OMIM:280000
Kawasaki Disease
Vasculitis, Abnormality of nail color, Double outlet right ventricle with subpulmonary ventricula... ORPHA:2331
Frank-Ter Haar Syndrome
Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o... OMIM:249420
Microphthalmia, Syndromic 2
Aortic valve stenosis, Thick eyebrow, Mitral valve prolapse, Ventricular septal defect, Contractu... OMIM:300166
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... OMIM:615474
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Mitral valve prolapse, V... OMIM:619472
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Mitral valve prolapse, Pulmonar... OMIM:175050
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Neonatal death, Persistent left superior vena cava, Transposition ... OMIM:314390
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Patent foramen ovale, Ventricular septal defect, Double outlet right vent... OMIM:301043
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Ventricular septal defe... ORPHA:369929
Acrocardiofacial Syndrome
Camptodactyly of finger, Tetralogy of Fallot, Long eyelashes, Mitral stenosis, Ventricular septal... ORPHA:2008
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia ORPHA:40366
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Tetra... ORPHA:2255
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip contracture, Ventricular septal defect, Curly hair, Hypoplastic aortic arch, Hypoplastic left... OMIM:619503
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Supernumerary nipple, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal d... ORPHA:2519
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Highly arched eyebrow, Tetralogy of Fallot, Conotrun... ORPHA:96147
Noonan Syndrome 2
Mitral valve prolapse, Ventricular septal defect, Low posterior hairline, Bicuspid aortic valve, ... OMIM:605275
Tangier Disease
Coronary artery stenosis, Facial diplegia, Nail dystrophy, Left ventricular hypertrophy, Carotid ... ORPHA:31150
Holoprosencephaly 14
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect OMIM:619895
Noonan Syndrome 3
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova... OMIM:609942
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Transposition of the great arteries, Patent foramen ovale OMIM:616789
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
Carpenter Syndrome 1
Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Transposition of t... OMIM:201000
Phace Association
Arterial stenosis, Ventricular septal defect, Coarctation of aorta, Aortic aneurysm, Anomalous br... OMIM:606519
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Congenital Tracheomalacia
Abnormal pulmonary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Right aorti... ORPHA:95430
Charge Syndrome
Secundum atrial septal defect, Tetralogy of Fallot, Right aortic arch, Ventricular septal defect,... OMIM:214800
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Alopecia, Supernumerary nipple, Tetralogy of Fallo... OMIM:100300
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Ventricula... OMIM:620025
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Pa... OMIM:600460
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Transposition of the great arteries, Patent ductus arteriosus, E... OMIM:313850
Thakker-Donnai Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Congenital diaphragmatic hernia, Ventri... ORPHA:1780
Renal Agenesis
Oligohydramnios, Hypertension, Ventricular septal defect ORPHA:411709
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Mitral regu... OMIM:123700
Williams-Beuren Syndrome
Peripheral pulmonary artery stenosis, Myxomatous mitral valve degeneration, Coronary artery steno... OMIM:194050
Congenital Tracheal Stenosis
Hypoplastic left heart, Fetal ascites, Anomalous origin of left pulmonary artery from ascending a... ORPHA:141127
Coffin-Siris Syndrome
Prominent eyelashes, Hypertrichosis, Abnormal heart morphology, Tetralogy of Fallot, Thick eyebro... ORPHA:1465
Chime Syndrome
Fine hair, Tetralogy of Fallot, Ventricular septal defect, Pulmonary valve atresia, Transposition... ORPHA:3474
Doors Syndrome
Polyhydramnios, Double outlet right ventricle, Low anterior hairline ORPHA:79500
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Highly arched eyebrow, Frontal balding, Muscular ventricular septal defect,... OMIM:612474
Cardiospondylocarpofacial Syndrome
Muscular ventricular septal defect, Mitral regurgitation, Patent foramen ovale, Dysplastic tricus... OMIM:157800
Neu-Laxova Syndrome 1
Generalized edema, Joint contracture of the hand, Polyhydramnios, Patent foramen ovale, Neonatal ... OMIM:256520
Restrictive Dermopathy
Sparse eyebrow, Short nail, Camptodactyly of finger, Sparse or absent eyelashes, Multiple joint c... ORPHA:1662
Carpenter Syndrome 2
Highly arched eyebrow, Sparse eyebrow, Supernumerary nipple, Tricuspid regurgitation, Situs inver... OMIM:614976
Mosaic Trisomy 20
Dysplastic tricuspid valve, Abnormal mitral valve morphology, Ventricular septal defect ORPHA:1724
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Short nail, Cardiomyopathy, Supernumerary nipple, Hypert... OMIM:312870
Vater/Vacterl Association
Tetralogy of Fallot, Transposition of the great arteries, Patent ductus arteriosus, Ventricular s... OMIM:192350
Coffin-Siris Syndrome 6
Atrial septal defect, Diaphragmatic eventration OMIM:617808

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 Arid2

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 Arid2.

There are 8 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
PBAF chromatin remodeler complexes that mediate meiotic transitions in mouse. Development (Cambridge, England) (September 2022) Arid2tm1a(EUCOMM)Wtsi 36111709
Differential roles of BAF and PBAF subunits, Arid1b and Arid2, in MLL-AF9 leukemogenesis. Leukemia (January 2022) Arid2tm1a(EUCOMM)Wtsi 35022500
Mammalian SWI/SNF chromatin remodeler is essential for reductional meiosis in males. Nature communications (November 2021) Arid2tm1a(EUCOMM)Wtsi Arid2tm1c(EUCOMM)Wtsi PMC8589837
Arid2 regulates hematopoietic stem cell differentiation in normal hematopoiesis. Experimental hematology (December 2020) Arid2tm1a(EUCOMM)Wtsi 33346030
SWI/SNF Complex Mutations Promote Thyroid Tumor Progression and Insensitivity to Redifferentiation Therapies. Cancer discovery (December 2020) Arid2tm1a(EUCOMM)Wtsi PMC8102308
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Arid2tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Arid2tm1a(EUCOMM)Wtsi