Atrial septal defect 1

Preferred Label : Atrial septal defect 1;

Symbol : ASD1;

CISMeF acronym : ASD; ASD1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : ASD;

Included titles and symbols : Atrial septal defect, primum type; Asd I; Atrial septal defect, secundum type; Asd II;

Description : The ASD1 locus for atrial septal defect has been identified on chromosome 5p. Other forms of atrial septal defect that are associated with other congenital heart disease but no conduction defects or noncardiac abnormalities include ASD2 (607941), caused by mutation in the GATA4 gene (600576), and ASD4 (611363), caused by mutation in the TBX20 gene (606061). ASD3 (614089) and ASD5 (612794), in which atrial septal defect is not associated with other cardiac abnormalities, are caused by mutation in the MYH6 (160710) and ACTC1 (102540) genes, respectively. ASD6 (613087), in which atrial septal defect may be associated with aneurysm of the interatrial septum and cardiac arrhythmias, is caused by mutation in the TLL1 gene (606742). ASD7 (108900), in which ASD is often associated with atrioventricular conduction defects, is caused by mutation in the NKX2-5 gene (600584). ASD8 (614433), in which ASD may be associated with other cardiac anomalies, is caused by mutation in the CITED2 gene (602937). ASD9 (614475) is caused by mutation in the GATA6 gene (601656). Somatic mutations in the HAND1 gene (602406) have been identified in tissue samples from patients with ASDs.;

Inheritance : Autosomal dominant in occasional families;

Prefixed ID : %108800;

Details

Origin ID

108800;

UMLS CUI

C1862389;

Automatic exact mappings (from CISMeF team)
- Atrial Septal Defect [NCIt concept]
- Atrial septal defect [HPO term]
- Atrial septal defect, ostium secundum type [ORDO Disease]
- Autistic behavior [HPO term]
- HEART SEPTAL DEFECT ATRIAL [WHO-ART Included Term]
- Interatrial communication [ORDO Disease]
- Interatrial communication [Vue CIM-11]
- Primum atrial septal defect [HPO term]
- atrial septal defect, secundum type [MeSH concept]
- atrial septal defect, secundum type [MeSH Supplementary Concept]
- autism spectrum disorder [MedlinePlus Topic]
- heart septal defects, atrial [MeSH Descriptor]
- partial atrioventricular canal [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Interatrial communication [ORDO Disease]
Currated CISMeF NLP mapping
- atrial heart septal defect 1 [DO Concept]
- atrial septal defect 1 [MeSH concept]
- atrial septal defect 1 [MeSH Supplementary Concept]
DO Cross reference
- atrial heart septal defect 1 [DO Concept]
HPO term(s)
- Aortic valve stenosis [HPO term]
- Atrial septal defect [HPO term]
- Atrial septal dilatation [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Persistent left superior vena cava [HPO term]
- Second degree atrioventricular block [HPO term]
- Secundum atrial septal defect [HPO term]
- Subvalvular aortic stenosis [HPO term]
- Tetralogy of Fallot with pulmonary atresia [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Interatrial communication [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- atrial septal defect 1 [MeSH Supplementary Concept]
- atrial septal defect 1 [MeSH concept]

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