Right atrial isomerism

Preferred Label : Right atrial isomerism;

Symbol : RAI;

CISMeF acronym : RAI;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Right isomerism; Asplenia with cardiovascular anomalies; Ivemark syndrome;

Included titles and symbols : Polysplenia syndrome; Polyasplenia; Heterotaxy, visceroatrial, autosomal recessive; Vah, autosomal recessive;

Description : Right atrial isomerism is a severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs. Left atrial isomerism (LAI) is a related disorder with a somewhat better prognosis. LAI is characterized by bilateral superior vena cava, interruption of the intrahepatic portion of the inferior vena cava, partial anomalous pulmonary venous drainage, and ventricular septal defect. Patients with LAI may have polysplenia and bilateral bilobed lungs, as well as situs inversus affecting other organs. Both RAI and LAI malformation complexes have classically been referred to as Ivemark syndrome (summary by Eronen et al., 2004 and Kaasinen et al., 2010).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the growth/differentiation factor 1 gene (GDF1, 602880.0001);

Prefixed ID : #208530;

Details

Origin ID

208530;

UMLS CUI

C3178806;

Automatic exact mappings (from CISMeF team)
- Bilateral left-sidedness sequence (disorder) [SNOMED CT concept]
- Ivemark's syndrome [MedDRA LLT]
- Left isomerism [ICD-11 Category]
- PPP1R13L wt Allele [NCIt concept]
- Polysplenia syndrome [MedDRA LLT]
- RNH1 wt Allele [NCIt concept]
- Ribonuclease Inhibitor [NCIt concept]
- SHC3 wt Allele [NCIt concept]
- anti-red blood cell antibody [Blood Transfusion thesaurus concept]
- heterotaxy syndrome [MeSH Descriptor]
- heterotaxy, visceroatrial, autosomal recessive [MeSH concept]
- heterotaxy, visceroatrial, autosomal recessive [MeSH Supplementary Concept]
- polyasplenia [MeSH concept]
- polyasplenia [MeSH Supplementary Concept]
- polysplenia syndrome [MeSH concept]
- protein phosphatase 1 regulatory subunit 13 like [HGNC gene]
- renal-hepatic-pancreatic dysplasia [DO Concept]
- ribonuclease/angiogenin inhibitor 1 [HGNC gene]
Currated CISMeF NLP mapping
- Bilateral right-sidedness sequence (disorder) [SNOMED CT concept]
- Right atrial isomerism [HPO term]
- Right atrial isomerism [MedDRA LLT]
- Right isomerism [ICD-11 Category]
- Right isomerism [HPO term]
- Right sided atrial isomerism [ORDO Disease]
- right atrial isomerism [MeSH concept]
- right atrial isomerism [DO Concept]
DO Cross reference
- right atrial isomerism [DO Concept]
Genes related to phenotype
- Growth/differentiation factor 1 [OMIM gene]
HPO term(s)
- Abdominal situs ambiguus [HPO term]
- Abnormal lung lobation [HPO term]
- Agenesis of corpus callosum [HPO term]
- Aortopulmonary collateral arteries [HPO term]
- Asplenia [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Common atrium [HPO term]
- Complete atrioventricular canal defect [HPO term]
- Complex cardiac malformations [HPO term]
- Dextrocardia [HPO term]
- Inguinal hernia [HPO term]
- Polysplenia [HPO term]
- Pulmonary artery atresia [HPO term]
- Pulmonic stenosis [HPO term]
- Right atrial isomerism [HPO term]
- Single ventricle [HPO term]
- Situs inversus totalis [HPO term]
- Tetralogy of Fallot [HPO term]
- Total anomalous pulmonary venous return [HPO term]
- Transposition of the great arteries [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Right sided atrial isomerism [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Right atrial isomerism [HPO term]
- Right atrial isomerism [MedDRA LLT]
- right atrial isomerism [MeSH concept]
- right atrial isomerism [DO Concept]

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