Heterotaxy, visceral, 4, autosomal

Preferred Label : Heterotaxy, visceral, 4, autosomal;

Symbol : HTX4;

CISMeF acronym : HTX4;

Type : Phenotype, molecular basis known;

Description : Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).;

Prefixed ID : #613751;

Details

Origin ID

613751;

UMLS CUI

C3151057;

Automatic exact mappings (from CISMeF team)
- Situs ambiguus [ORDO Disease]
DO Cross reference
- visceral heterotaxy [DO Concept]
Genes related to phenotype
- Activin a receptor, type iib [OMIM gene]
HPO term(s)
- Atrioventricular canal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral superior vena cava [HPO term]
- Common atrium [HPO term]
- Complete atrioventricular canal defect [HPO term]
- Congenital onset [HPO term]
- Dextrocardia [HPO term]
- Dextrotransposition of the great arteries [HPO term]
- Ectopia of the spleen [HPO term]
- Interrupted inferior vena cava with azygous continuation [HPO term]
- Polysplenia [HPO term]
- Pulmonary artery atresia [HPO term]
- Right aortic arch [HPO term]
- Total anomalous pulmonary venous return [HPO term]
- Transposition of the great arteries [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Heterotaxia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- visceral heterotaxy [DO Concept]

Keyword's position in hierarchy(ies) :

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