Gene Summary

Name:
AT rich interactive domain 2 (ARID, RFX-like)
Synonyms:
4432409D24Rik,  zipzap/p200,  1700124K17Rik

IMPC Data Collections

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.

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

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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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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

View all 99 images

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.

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
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Atrioventricular Septal Defect 3
Inlet ventricular septal defect, Midsystolic murmur, Pulmonary arterial hypertension, Hypertensio... OMIM:600309
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Partial Atrioventricular Septal Defect
Atrial flutter, Patent ductus arteriosus, Coronary sinus enlargement, Double outlet right ventric... ORPHA:1330
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Atrial fibrillation,... OMIM:604169
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... OMIM:614980
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Transposition of the great arteries, Ventricula... OMIM:231060
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Dextrocardia, Left superior vena cava draining to cor... ORPHA:185
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... OMIM:617205
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... OMIM:614954
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventr... OMIM:618164
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Dou... OMIM:618845
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Tor... OMIM:249670
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly, Patent ductus arteriosus, Pulmoni... OMIM:179613
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Heart murmur, Double outlet rig... ORPHA:3426
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Pedal edema, Patent ductus arteriosus, Peripheral arterial stenosis, S... OMIM:126320
Spinal Muscular Atrophy, Type I
Atrial septal defect, Spinal muscular atrophy, Proximal amyotrophy, Ventricular septal defect, Pr... OMIM:253300
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Oligohydramnios, Ventricular septal defect, Cardiomyopathy ORPHA:1909
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Highly arched eyebrow, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus,... OMIM:618316
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventricle,... ORPHA:3304
Grange Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Arterial... ORPHA:79094
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Eng-Strom Syndrome
Camptodactyly of finger, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Oligohydramnios, Ventricular septal defect, Patent ductus arteriosus, Hypertension OMIM:617021
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... OMIM:108900
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect, Second de... OMIM:618782
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Anomalous ... ORPHA:99050
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosi... ORPHA:1461
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Bicuspid aortic valve, Transp... OMIM:612474
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Right aortic arch, Ventricular septal defect OMIM:613751
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Highly arched eyebrow, Ventricular septal defect ORPHA:251076
Mitral Valve Prolapse 2
Mitral valve prolapse, Mitral regurgitation OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse, Mitral regurgitation OMIM:610840
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Aortic regurgitation, Pulmona... ORPHA:2326
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Hirsutism, Hypertension, Bicuspid aortic valve, ... ORPHA:371428
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Ebstein Malformation Of The Tricuspid Valve
Atrial septal defect, Arrhythmia, Abnormal endocardium morphology, Imperforate tricuspid valve, P... ORPHA:1880
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... ORPHA:2248
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Patent ductus ... OMIM:306955
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Single ventricle, Cardiac conduction abnormality, Supraventricular... ORPHA:216694
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy, Ventricular septal defect OMIM:614947
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Arthrogryposis multiplex congenita, Atrial septal defect, Ventricular septal defect, Camptodactyl... OMIM:614262
Sick Sinus Syndrome 2
Aortic regurgitation, Atrial fibrillation, Sick sinus syndrome, Ventricular fibrillation, Left ve... OMIM:163800
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Dou... ORPHA:477817
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Oligohydramnios, Ventricular septal defect, Lymphedema, Atrial flutter, Pat... OMIM:601927
Fetal Minoxidil Syndrome
Generalized hirsutism, Ventricular septal defect ORPHA:1918
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Cardiogenic ... ORPHA:75565
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Pulmonary artery hypoplasia, Tricuspid regurgitation, Bicuspid aortic val... OMIM:613426
Truncus Arteriosus
Abnormal coronary artery morphology, Abnormal heart valve physiology, Patent ductus arteriosus, C... ORPHA:3384
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascendin... OMIM:616166
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Dextrocardia, Double outlet right ventricle, Mesocardia, Left atrial isom... OMIM:605376
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis OMIM:601322
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Mitral regurgitation, P... OMIM:612561
Lymphedema-Distichiasis Syndrome
Yellow nails, Arrhythmia, Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Predom... OMIM:153400
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosis ORPHA:2868
Timothy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Prolonged QT interval, Patent ... OMIM:601005
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Patent ductus arteriosus, ... ORPHA:99125
Cardiac Valvular Defect, Developmental
Tricuspid atresia, Hydrops fetalis, Arteria lusoria, Tricuspid regurgitation, Edema, Mitral steno... OMIM:212093
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Pericardial And Diaphragmatic Defect
Partial diaphragmatic absence of pericardium, Palpitations, Atrial septal defect, Abnormal heart ... ORPHA:2847
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Short chordae tendineae of the mitral valve, Conge... OMIM:314400
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
Linear Skin Defects With Multiple Congenital Anomalies 2
Highly arched eyebrow, Ventricular hypertrophy, Atrial septal defect, Pulmonary arterial hyperten... OMIM:300887
X-Linked Intellectual Disability, Nascimento Type
Generalized hirsutism, Oligohydramnios, Ventricular septal defect, Abnormal hair whorl, Patent du... ORPHA:163956
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Aortopulm... OMIM:208530
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Arthrogryposis multiplex congenita, Ventricular septal defect, Edema, Skeletal mu... OMIM:607598
Noonan Syndrome 8
Polyhydramnios, Atrial septal defect, Ventricular septal defect, Pleural effusion, Curly hair, Pa... OMIM:615355
Triglyceride Deposit Cardiomyovasculopathy
Palpitations, Abnormality of the shoulder girdle musculature, Arrhythmia, Renal artery atheroscle... ORPHA:565612
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Polyhydramnios, Arthrogryposis multiplex congenita, Ventricular septal defect, Hirsutism, Abnorma... OMIM:301056
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Storm Syndrome
Mitral valve calcification, Aortic valve stenosis, Early progressive calcific cardiac valvular di... OMIM:185069
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Abnormal tricuspid valve morphology, ... ORPHA:3405
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormality of the hairline, Double outlet right ventricle, Patent ductus arteriosus, Atrial sept... OMIM:614886
Mass Syndrome
Mitral valve prolapse, Aortic aneurysm OMIM:604308
Noonan Syndrome 12
Supravalvular aortic stenosis, Tetralogy of Fallot, Polyhydramnios, Ventricular septal defect OMIM:618624
14Q11.2 Microdeletion Syndrome
Highly arched eyebrow, Sparse lateral eyebrow, Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Abdominal Obesity-Metabolic Syndrome 3
Myocardial infarction, Coronary artery stenosis, Hypertension OMIM:615812
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Curly hair, Ventri... OMIM:601214
Mitral Valve Prolapse 1
Mitral valve prolapse, Mitral regurgitation OMIM:157700
Mental Retardation, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Atrial septal defect, Ventricular septal defect, Congestive heart ... ORPHA:49827
Polyvalvular Heart Disease Syndrome
Arrhythmia, Abnormal heart valve morphology, Tricuspid regurgitation, Pulmonic stenosis, Aortic v... ORPHA:228410
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Low anterior hairline, Atrial septal defect, Ventricular septal defect OMIM:608227
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Contractures of the interphalangeal joint of the thumb, Ventricular septal ... OMIM:613870
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Abnormal hair morphology, Ventricular septal defect, Patent ductus arterios... OMIM:608406
Classic Multiminicore Myopathy
Right ventricular failure, Increased muscle lipid content, Congenital muscular dystrophy, General... ORPHA:324604
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Ebstein Anomaly
Atrial septal defect, Atrial standstill, Ventricular preexcitation, Atrial fibrillation, Ebstein ... OMIM:224700
Primary Ciliary Dyskinesia
Anomalous pulmonary venous return, Situs inversus totalis, Abnormal heart morphology, Atrial situ... ORPHA:244
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Truncus arteriosus, Ventricular septal defect OMIM:228940
Xk Aprosencephaly Syndrome
Polyhydramnios, Atrial septal defect, Ventricular septal defect ORPHA:3469
Renal Tubular Dysgenesis
Polyhydramnios, Tetralogy of Fallot, Oligohydramnios ORPHA:3033
Pseudoxanthoma Elasticum
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Intermittent claudication, Angina pecto... OMIM:264800
Optic Atrophy 8
Mitral valve prolapse, Mitral regurgitation OMIM:616648
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Atrial septal defect, Transposition of the great arteries, Ventricular septal defect OMIM:270100
Giant Cell Arteritis
Arrhythmia, Pericarditis, Epistaxis, Sudden cardiac death, Double outlet right ventricle with sub... ORPHA:397
Pseudoxanthoma Elasticum, Forme Fruste
Peau d'orange, Gastrointestinal hemorrhage, Medial calcification of medium-sized arteries, Angina... OMIM:177850
Classical-Like Ehlers-Danlos Syndrome Type 1
Arrhythmia, Gastrointestinal hemorrhage, Precocious atherosclerosis, Skeletal muscle atrophy, Mit... ORPHA:230839
Camurati-Engelmann Disease, Type 2
Hip contracture, Knee flexion contracture, Skeletal muscle atrophy, Mitral valve prolapse, Mitral... OMIM:606631
Transposition Of The Great Arteries, Dextro-Looped 1
Transposition of the great arteries OMIM:608808
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced ejection fraction, Aortic regurgitation, Patent ductus arteriosus, Tricuspid regurgitatio... OMIM:616501
Hadziselimovic Syndrome
Low anterior hairline, Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, ... OMIM:612946
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Cap Myopathy
Abnormal muscle fiber morphology, Sinus tachycardia, Lower limb muscle weakness, Reduced systolic... ORPHA:171881
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Low anterior hairline, Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Double ... OMIM:618223
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Ventricular septal defect, Curly hair, Pulmonic stenosis, Hypertrophic card... OMIM:615279
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect, Paroxysmal at... ORPHA:392
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Thick eyebrow, Hypertr... OMIM:619189
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Abnormal aortic morphology, Congenital diaphragmatic hernia, Abnormali... ORPHA:1166
Grange Syndrome
Coronary artery stenosis, Renovascular hypertension, Carotid artery stenosis, Bicuspid aortic val... OMIM:602531
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Double outlet right ventricle, Hypoplastic ... ORPHA:2209
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Tricuspid regurgitatio... OMIM:618652
Noonan Syndrome 10
Atrial septal defect, Sparse eyebrow, Ventricular septal defect, Pleural effusion, Curly hair, Pa... OMIM:616564
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Ventricular septal defect, Hypoplastic left heart, Mitral atresia OMIM:614435
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse, Mitral regurgitation, Cerebral berry aneurysm, Hypertension OMIM:173900
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Adams-Oliver Syndrome 6
Portal hypertension, Truncus arteriosus, Tricuspid regurgitation, Ventricular septal defect OMIM:616589
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology, S... ORPHA:401935
Hypertelorism And Tetralogy Of Fallot
Patent foramen ovale, Tetralogy of Fallot, Tetralogy of Fallot with absent pulmonary valve, Paten... OMIM:239711
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Weill-Marchesani Syndrome
Mitral regurgitation, Pulmonic stenosis, Aortic valve stenosis, Ventricular septal defect ORPHA:3449
Fetal Trimethadione Syndrome
Atrial septal defect, Ventricular septal defect, Synophrys, Tetralogy of Fallot, Transposition of... ORPHA:1913
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Hypoplastic left atrium, Ventricular septal defect OMIM:615524
Mcdonough Syndrome
Diastasis recti, Atrial septal defect, Sparse hair, Ventricular septal defect, Synophrys, Pulmoni... OMIM:248950
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Situs inversus totalis, Ventricular sept... ORPHA:3097
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Abnormal heart morphology, Coarctation of aor... ORPHA:284169
Chromosome 15Q14 Deletion Syndrome
Highly arched eyebrow, Atrial septal defect, Ventricular septal defect OMIM:616898
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Mitral valve prolapse, Fine hair OMIM:615278
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Noonan Syndrome 9
Sparse eyebrow, Ventricular septal defect, Curly hair, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Serkal Syndrome
Pulmonic stenosis, Congenital diaphragmatic hernia, Oligohydramnios, Ventricular septal defect ORPHA:139466
Thiamine-Responsive Megaloblastic Anemia Syndrome
Arrhythmia, Atrial septal defect, Situs inversus totalis, Ventricular septal defect, Cardiomyopathy OMIM:249270
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy, Ventricular septal defect OMIM:616816
Noonan Syndrome 2
Polyhydramnios, Atrial septal defect, Arthrogryposis multiplex congenita, Sparse eyebrow, Abnorma... OMIM:605275
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosu... ORPHA:210122
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Ventricular septal defect, Paten... OMIM:610338
Tyshchenko Syndrome
Polyhydramnios, Low anterior hairline, Atrial septal defect, Ventricular septal defect, Thick hai... OMIM:615102
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Mitral valve prolapse, Mitral regurgitation, Aortic regurgitation OMIM:225320
Wolcott-Rallison Syndrome
Dehydration, Double outlet right ventricle, Ascites, Atrial septal defect ORPHA:1667
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Aortic regurgitation, Pulmonic stenosis, Aortic root aneurysm, Persistent... OMIM:609008
Homozygous Familial Hypercholesterolemia
Coronary artery aneurysm, Abnormal left ventricular function, Cerebral artery atherosclerosis, Su... ORPHA:391665
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Mitral regurgitation, Abnormal atrioventricular valve morphology, Tricuspid regur... ORPHA:324410
Cleft Palate, Cardiac Defects, And Mental Retardation
Highly arched eyebrow, Atrial septal defect, Sparse eyebrow, Ventricular septal defect, High ante... OMIM:600987
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm, Secundum atrial septal defect, Hypoplastic left heart, Ventric... OMIM:618901
German Syndrome
Camptodactyly of finger, Arthrogryposis multiplex congenita, Abnormal eyebrow morphology, Lymphed... ORPHA:2077
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Pulmonary arterial hypertension, Hypertension, Biventricular hypertrop... OMIM:615474
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
8P23.1 Microdeletion Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology, Hypopla... ORPHA:251071
Polysyndactyly With Cardiac Malformation
Polyhydramnios, Atrial septal defect, Stillbirth, Ventricular septal defect OMIM:263630
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta,... ORPHA:261183
Eisenmenger Syndrome
Ventricular arrhythmia, Patent ductus arteriosus, Tricuspid regurgitation, Pulmonary arterial hyp... ORPHA:97214
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect ORPHA:2516
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Knee flexion contracture, Skeletal muscle atroph... OMIM:603387
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Patent ductus arteriosus, Ao... ORPHA:2306
Methimazole Embryofetopathy
Polyhydramnios, Abnormal aortic morphology, Coarctation of aorta, Ventricular septal defect ORPHA:1923
Kawasaki Disease
Arrhythmia, Pericarditis, Abnormal heart valve morphology, Abnormality of nail color, Congestive ... ORPHA:2331
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Dilated cardiomyopathy, Mitral valve prolapse, Left ventricular systolic dysfunction OMIM:145350
Joubert Syndrome 18
Camptodactyly, Ventricular septal defect OMIM:614815
Von Willebrand Disease, Type 1
Joint hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Aortic valve stenosis, Mitral valve pro... OMIM:193400
Transaldolase Deficiency
Atrial septal defect, Oligohydramnios, Ventricular septal defect, Patent ductus arteriosus, Synop... OMIM:606003
Contractural Arachnodactyly, Congenital
Atrial septal defect, Congenital finger flexion contractures, Ventricular septal defect, Camptoda... OMIM:121050
Alagille Syndrome 2
Atrial septal defect, Peripheral pulmonary artery stenosis, Hypertension, Pulmonic stenosis, Tetr... OMIM:610205
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Paroxysmal supraventricular tachycardia, Synophrys, Pulmonic stenosis, Perimembranous ventricular... OMIM:617877
Cardiospondylocarpofacial Syndrome
Mitral valve prolapse, Mitral regurgitation ORPHA:3238
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Interrupted aortic arch, V... OMIM:600001
Woods Syndrome
Supernumerary nipple, Frontal hirsutism, Ventricular septal defect OMIM:615236
Distal Monosomy 15Q
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary steno... ORPHA:1596
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... OMIM:601186
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Abnormality of the pulmonary artery, Aplas... ORPHA:1926
Keutel Syndrome
Pulmonary arterial hypertension, Alopecia, Pulmonary artery stenosis, Ventricular septal defect ORPHA:85202
Kagami-Ogata Syndrome
Polyhydramnios, Diastasis recti, Atrial septal defect, Ventricular septal defect, Flexion contrac... OMIM:608149
Congenital Tricuspid Stenosis
Hypotension, Tricuspid regurgitation, Tricuspid stenosis, Heart murmur, Congestive heart failure,... ORPHA:95459
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Hypoplastic l... OMIM:301043
Johnson Neuroectodermal Syndrome
Sparse hair, Absent eyelashes, Ventricular septal defect, Patent ductus arteriosus, Absent eyebro... OMIM:147770
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Tetralogy of Fallot, Patent ductus arteriosus ORPHA:2184
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Polyhydramnios, Misalignment of the pulmonary veins, Pulmonary insufficiency, Patent ductus arter... OMIM:265380
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Frank-Ter Haar Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly, Double outlet right ventricle, Mi... OMIM:249420
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage, Epistaxis, Hypertens... ORPHA:369929
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Alopecia totalis, Persistent left superior vena ... OMIM:618775
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Ventricular septal defect, Camptodactyly, Patent ductus arteriosus, Low pos... OMIM:300963
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonary arterial hyp... ORPHA:2519
Acrocardiofacial Syndrome
Camptodactyly of finger, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Lon... ORPHA:2008
Gastrointestinal Defects And Immunodeficiency Syndrome
Polyhydramnios, Hematochezia, Ventricular septal defect OMIM:243150
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Ventricular septal defect, Diastasis recti, Abnormal heart morphology ORPHA:254534
Klippel-Feil Syndrome 2, Autosomal Recessive
Low posterior hairline, Ventricular septal defect OMIM:214300
Costello Syndrome
Polyhydramnios, Macroglossia, Thickened Achilles tendon, Abnormal hair morphology, Ventricular se... ORPHA:3071
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Interrupted aortic arch, Ventricular septal de... ORPHA:2255
Prune Belly Syndrome
Atrial septal defect, Oligohydramnios, Ventricular septal defect, Patent ductus arteriosus, Aplas... ORPHA:2970
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, ... ORPHA:1727
Lymphedema-Hypoparathyroidism Syndrome
Lymphedema, Mitral valve prolapse, Hypertrichosis, Pulmonary lymphangiectasia OMIM:247410
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Transposition of the great arteries OMIM:614779
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Ventricular septal defect, Coarse hair, Brittle hair, Pulmonary artery sten... ORPHA:75389
Microphthalmia, Syndromic 2
Atrial septal defect, Ventricular septal defect, Laterally curved eyebrow, Flexion contracture, P... OMIM:300166
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Restrictive cardiomyopathy, Angina ... ORPHA:758
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Bradycardia, Third degree atrioventricular block, Conotruncal defect ORPHA:40366
Lethal Congenital Contracture Syndrome 10
Hydrops fetalis, Oligohydramnios, Ventricular septal defect, Torticollis, Cardiomegaly, Overridin... OMIM:617022
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Mitral valve prolapse, Hematochezia, Cerebral arteriovenous malformation, Hepatic arteriovenous m... OMIM:175050
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Ventricular septal defect, Camptodactyly, Aortic root aneurysm, Mitral regu... OMIM:301039
Beaulieu-Boycott-Innes Syndrome
High anterior hairline, Patent ductus arteriosus, Ventricular septal defect OMIM:613680
Noonan Syndrome With Multiple Lentigines
Scapular winging, Bundle branch block, Arrhythmia, Abnormal mitral valve morphology, Abnormal end... ORPHA:500
Ogden Syndrome
Cardiogenic shock, Arrhythmia, Ventricular septal defect, Torticollis, Pulmonary artery stenosis,... ORPHA:276432
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Cardiac-Urogenital Syndrome
Scimitar anomaly, Atrial septal defect, Ventricular septal defect, Dysplastic tricuspid valve, Pa... OMIM:618280
Noonan Syndrome 3
Polyhydramnios, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmon... OMIM:609942
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Dilated cardiomyopathy, Arrhythmia, Ventricular septal defect, Pericardial ... ORPHA:26793
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Varicose veins, Atrial septal defect, Flexion contracture of finger, Ven... OMIM:602782
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Macroglossia, Ventricular septal defect, Patent ductus arteriosus, Hypertrophic cardiomyopathy OMIM:612938
Weiss-Kruszka Syndrome
Highly arched eyebrow, Ventricular septal defect, Left ventricular hypertrophy, Bicuspid aortic v... OMIM:618619
Tangier Disease
Accelerated atherosclerosis, Coronary artery stenosis, Carotid artery stenosis, Left ventricular ... ORPHA:31150
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Arthrogryposis multiplex congenita, Atrial septal defect, Ventricular septal defect, Dehydration,... OMIM:208085
Kleefstra Syndrome Due To 9Q34 Microdeletion
Highly arched eyebrow, Macroglossia, Aortic regurgitation, Synophrys, Aortic valve stenosis, Tetr... ORPHA:96147
Transketolase Deficiency
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Patent ductus arterio... ORPHA:488618
Noonan Syndrome 4
Polyhydramnios, Atrial septal defect, Sparse eyebrow, Ventricular septal defect, Curly hair, High... OMIM:610733
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Edema, Ventricular septal defect OMIM:618348
Aphalangy With Hemivertebrae
Ventricular septal defect OMIM:207620
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Atrioventricular canal defect, Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect OMIM:600123
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Sparse hair, Ventricular septal defect OMIM:615508
Diamond-Blackfan Anemia 7
Polyhydramnios, Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal defe... OMIM:612562
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Macroglossia, Transposition of the great arteries OMIM:616789
Chromosome 9P Deletion Syndrome
Highly arched eyebrow, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus,... OMIM:158170
Kapur-Toriello Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect ORPHA:2328
Hardikar Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Coarctation of ao... OMIM:612726
Phace Association
Arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Vascular dilatation, Coar... OMIM:606519
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Vascular dilatation, Ventricular septal defect OMIM:219730
Geleophysic Dysplasia 2
Tricuspid stenosis, Aortic valve stenosis, Mitral stenosis, Pulmonary arterial hypertension, Mitr... OMIM:614185
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Transposition of the great arteries OMIM:314390
X Small Rings
Oligohydramnios, Ventricular septal defect, Aortic root aneurysm, Mitral stenosis, Bicuspid aorti... ORPHA:96201
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Myocardial fibrosis, Congenital muscular dystrophy, Flexion contracture, Pu... OMIM:253800
Carpenter Syndrome 1
Atrial septal defect, Ventricular septal defect, Camptodactyly, Patent ductus arteriosus, Pulmoni... OMIM:201000
Phaver Syndrome
Camptodactyly of finger, Ventricular septal defect, Hypoplastic aortic arch, Coarctation of aorta... ORPHA:2876
Seckel Syndrome 9
Polyhydramnios, Atrial septal defect, Ventricular septal defect, Pulmonary artery hypoplasia, Hyp... OMIM:616777
Syndromic Diarrhea
Hypopigmentation of hair, Atrial septal defect, Aortic regurgitation, Abnormal heart morphology, ... ORPHA:84064
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Ventricular septal defect OMIM:618021
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Histiocytoid Cardiomyopathy
Ventricular septal defect, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, V... ORPHA:137675
Adams-Oliver Syndrome 1
Atrial septal defect, Ventricular septal defect, Hypertension, Pulmonic stenosis, Aortic valve st... OMIM:100300
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Highly arched eyebrow, Atrial septal defect, Sparse hair, Ventricular septal defect, Curly hair, ... OMIM:617506
Aase-Smith Syndrome I
Flexion contracture, Ventricular septal defect OMIM:147800
Distal Monosomy 19P13.3
Pulmonary valve atresia, Ventricular septal defect, Thick eyebrow, Alopecia, Tricuspid valve prol... ORPHA:96129
Ogden Syndrome
Atrial septal defect, Arrhythmia, Ventricular septal defect, Ventricular extrasystoles, Long eyel... OMIM:300855
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Pulmonic stenosis, Camptodactyly, Ventricular septal defect OMIM:619123
X-Linked Lissencephaly With Abnormal Genitalia
Patent ductus arteriosus, Ventricular septal defect ORPHA:452
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... OMIM:600460
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Heart Block, Congenital
Myocardial fibrosis, Absent atrioventricular node, Myocardial calcification, Atrial arrhythmia, A... OMIM:234700
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Absent eyelashes, Ventricular septal defect, Patent ductus arteriosus, Patchy alopecia, Sparse bo... OMIM:106260
Cerebellar-Facial-Dental Syndrome
Sparse eyebrow, Sparse hair, Ventricular septal defect, Contractures involving the joints of the ... ORPHA:444072
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Renal Agenesis
Oligohydramnios, Hypertension, Ventricular septal defect ORPHA:411709
Thakker-Donnai Syndrome
Tetralogy of Fallot, Congenital diaphragmatic hernia, Transposition of the great arteries, Ventri... ORPHA:1780
Charge Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Dou... OMIM:214800
Trichohepatoenteric Syndrome 1
Polyhydramnios, Sparse hair, Aortic regurgitation, Ventricular septal defect, Curly hair, Woolly ... OMIM:222470
Thoracoabdominal Syndrome
Ectopia cordis, Patent ductus arteriosus, Transposition of the great arteries, Congenital diaphra... OMIM:313850
Pentalogy Of Cantrell
Atrial septal defect, Ventricular septal defect, Abnormal pericardium morphology, Congenital diap... ORPHA:1335
Holt-Oram Syndrome
Small thenar eminence, Ventricular septal defect, Secundum atrial septal defect, Patent ductus ar... OMIM:142900
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Arrhythmia, Ventricular septal defect, Congenital diaphragmatic hernia, Ove... OMIM:309801
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Sparse hair, Ventricular septal defect, Camptodactyly, Peripheral pulmonary artery stenosis, Hypo... OMIM:280000
Weill-Marchesani Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Aortic valve stenosis, Mi... OMIM:277600
Congenital Tracheal Stenosis
Preductal coarctation of the aorta, Polyhydramnios, Oligohydramnios, Ventricular septal defect, A... ORPHA:141127
Van Esch-O'Driscoll Syndrome
Pulmonary valve atresia, Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect OMIM:301030
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Oligohydramnios, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Ventricular septal d... OMIM:611812
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:613309
Williams-Beuren Syndrome
Atrial septal defect, Coronary artery stenosis, Medial flaring of the eyebrow, Ventricular septal... OMIM:194050
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Hypoplastic left heart, Coarctation of aorta, Patent foramen ovale, Te... OMIM:618748
Weill-Marchesani Syndrome 2
Ventricular septal defect, Flexion contracture of toe, Patent ductus arteriosus, Pulmonic stenosi... OMIM:608328
Loeys-Dietz Syndrome 1
Descending thoracic aorta aneurysm, Arterial tortuosity, Atrial septal defect, Camptodactyly, Pat... OMIM:609192
Specc1L-Related Hypertelorism Syndrome
Highly arched eyebrow, Atrial septal defect, Arrhythmia, Ventricular septal defect, Widow's peak,... ORPHA:1519
Mckusick-Kaufman Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart... ORPHA:2473
Loeys-Dietz Syndrome 2
Descending thoracic aorta aneurysm, Carotid artery dilatation, Atrial septal defect, Arterial tor... OMIM:610168
Distal 22Q11.2 Microduplication Syndrome
Camptodactyly of finger, Macroglossia, Ventricular septal defect, Camptodactyly of toe, Palpebral... ORPHA:261337
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Interrupted aortic arch, Ventricular septal defect... OMIM:192430
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Camptodactyly, Patent ductus arteriosus, Thoracic aortic aneurysm, Mitra... OMIM:613795
Paternal Uniparental Disomy Of Chromosome 6
Macroglossia, Oligohydramnios, Ventricular septal defect, Patent ductus arteriosus, Dehydration, ... ORPHA:96191
Coffin-Siris Syndrome
Low anterior hairline, Atrial septal defect, Ventricular septal defect, Abnormal heart morphology... ORPHA:1465
Kleefstra Syndrome 1
Macroglossia, Synophrys, Conotruncal defect OMIM:610253
Mycophenolate Mofetil Embryopathy
Coarctation of aorta, Hydrops fetalis, Congenital diaphragmatic hernia, Ventricular septal defect ORPHA:268249
Chime Syndrome
Pulmonary valve atresia, Sparse hair, Ventricular septal defect, Tetralogy of Fallot, Fine hair, ... ORPHA:3474
Doors Syndrome
Polyhydramnios, Low anterior hairline, Double outlet right ventricle ORPHA:79500
Short Rib-Polydactyly Syndrome
Polyhydramnios, Situs inversus totalis, Abnormal heart morphology, Increased nuchal translucency,... ORPHA:1505
Neu-Laxova Syndrome 1
Polyhydramnios, Absent eyelashes, Stillbirth, Ventricular septal defect, Camptodactyly, Patent du... OMIM:256520
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Noonan Syndrome 1
Atrial septal defect, Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Pulmonic s... OMIM:163950
Phace Syndrome
Abnormal carotid artery morphology, Cerebral arteriovenous malformation, Abnormal heart morpholog... ORPHA:42775
Facial Dysmorphism With Multiple Malformations
Tetralogy of Fallot, Low posterior hairline, Transposition of the great arteries, Ventricular sep... OMIM:227255
Restrictive Dermopathy
Polyhydramnios, Camptodactyly of finger, Atrial septal defect, Arthrogryposis multiplex congenita... ORPHA:1662
Keutel Syndrome
Ventricular septal defect, Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasia, Hyp... OMIM:245150
Mosaic Trisomy 20
Dysplastic tricuspid valve, Abnormal mitral valve morphology, Ventricular septal defect ORPHA:1724
Carpenter Syndrome 2
Highly arched eyebrow, Atrial septal defect, Situs inversus totalis, Camptodactyly, Patent ductus... OMIM:614976
Simpson-Golabi-Behmel Syndrome, Type 1
Macroglossia, Diastasis recti, Arrhythmia, Ventricular septal defect, Cardiomyopathy, Patent duct... OMIM:312870
Visceral Steatosis, Congenital
Neonatal death, Myocardial steatosis OMIM:228100
Ulnar-Mammary Syndrome
Arrhythmia, Ventricular septal defect, Breast hypoplasia, Axillary apocrine gland hypoplasia, Spa... OMIM:181450
Vater/Vacterl Association
Tetralogy of Fallot, Patent ductus arteriosus, Transposition of the great arteries, 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 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Arid2 regulates hematopoietic stem cell differentiation in normal hematopoiesis. Experimental hematology (December 2020) Arid2tm1a(EUCOMM)Wtsi 33346030
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Arid2tm1a(EUCOMM)Wtsi