Heterotaxy, visceral, 2, autosomal

Preferred Label : Heterotaxy, visceral, 2, autosomal;

Symbol : HTX2;

CISMeF acronym : HTX; HTX2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HTX;

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).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cryptic protein gene (CFC1, 605194.0001);

Prefixed ID : #605376;

Details

Origin ID

605376;

UMLS CUI

C1415817;

Automatic exact mappings (from CISMeF team)
- CFC1 wt Allele [NCIt concept]
- Situs ambiguus [ORDO Disease]
- ZIC3 wt Allele [NCIt concept]
- Zic family member 3 [ORDO Gene]
- symbol withdrawn HTX2 [HGNC gene]
Broader ORDO disease(s)
- Heterotaxia [ORDO Disease]
Currated CISMeF NLP mapping
- visceral heterotaxy 2 [DO Concept]
DO Cross reference
- visceral heterotaxy 2 [DO Concept]
Genes related to phenotype
- Cryptic, egf-cfc family member 1 [OMIM gene]
HPO term(s)
- Abdominal situs inversus [HPO term]
- Agenesis of corpus callosum [HPO term]
- Asplenia [HPO term]
- Atrioventricular canal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral superior vena cava [HPO term]
- Congenital onset [HPO term]
- Dextrocardia [HPO term]
- Double outlet right ventricle [HPO term]
- Intestinal malrotation [HPO term]
- Left atrial isomerism [HPO term]
- Mesocardia [HPO term]
- Microcephaly [HPO term]
- Polysplenia [HPO term]
- Situs inversus totalis [HPO term]
- Transposition of the great arteries [HPO term]
- Typified by incomplete penetrance [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]

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