Symbol
Name
ID

Cfap53
cilia and flagella associated protein 53
MGI:1921703

Phenotype annotations related to cardiovascular system

Darker colors indicate more annotations

Human Phenotypes

Dextrocardia

Situs inversus totalis

Mesocardia

Left atrial isomerism

Right atrial isomerism

Atrial septal defect

Patent foramen ovale

Common atrium

Ventricular septal defect

Atrioventricular canal defect

Complete atrioventricular canal defect

Unbalanced atrioventricular canal defect

Subvalvular aortic stenosis

Single ventricle

Mitral atresia

Double outlet right ventricle

Transposition of the great arteries

Dextrotransposition of the great arteries

Cardiomegaly

Hypoplastic left heart

Right aortic arch

Hypoplastic aortic arch

Coarctation of aorta

Pulmonary artery atresia

Total anomalous pulmonary venous return

Interrupted inferior vena cava with azygous continuation

Bilateral superior vena cava

Left superior vena cava draining to coronary sinus

Patent ductus arteriosus

Mitral stenosis

Pulmonic stenosis

Asplenia

Ectopia of the spleen

Polysplenia

Disease(s) Associated with CFAP53

visceral heterotaxy

Mouse Phenotypes

abnormal vertebral artery topology

inverse situs of great intrathoracic arteries

dilated liver sinusoidal space

abnormal placental labyrinth vasculature morphology

abnormal azygos vein topology

symmetric azygos veins

abnormal ductus venosus valve morphology

absent ductus venosus valve

hepatic portal vein stenosis

abnormal superior mesenteric vein topology

absent intrahepatic inferior vena cava segment

dual inferior vena cava

double outlet left ventricle

anomalous pulmonary venous connection

double inlet heart right ventricle

abnormal inferior vena cava valve morphology

common atrium

perimembraneous ventricular septal defect

muscular ventricular septal defect

placenta hemorrhage

Availability

Mouse Genotype

Cfap53^{em1(IMPC)Wtsi}/Cfap53^{em1(IMPC)Wtsi}

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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