Heterotaxy, visceral, 1, X-linked

Preferred Label : Heterotaxy, visceral, 1, X-linked;

Symbol : HTX1;

CISMeF acronym : CHTD1; HTX1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dextrocardia with other cardiac malformations; Laterality, X-linked; Situs inversus, complex cardiac defects, and splenic defects, X-linked;

Included titles and symbols : Congenital heart defects, multiple types, 1, X-linked; CHTD1;

Description : - Heterotaxy 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. - Multiple Types of Congenital Heart Defects Congenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by van de Meerakker et al., 2011). - Genetic Heterogeneity of Visceral Heterotaxy See also HTX2 (605376), caused by mutation in the CFC1 gene (605194) on chromosome 2q21.1; HTX3 (606325), which maps to chromosome 6q21; HTX4 (613751), caused by mutation in the ACVR2B gene (602730) on chromosome 3p22.1-p21.3; HTX5 (270100), caused by mutation in the NODAL gene (601265) on chromosome 10q22.1; and HTX6 (614779), caused by mutation in the CCDC11 gene (614759) on chromosome 18q. - Genetic Heterogeneity of Multiple Types of Congenital Heart Defects An X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26.2. CHTD2 is caused by mutation in the TAB2 gene (605101) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3; 614954) has been mapped to chromosome 9q.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the zic family member 3 gene (ZIC3, 300265.0001);

Prefixed ID : #306955;

Details

Origin ID

306955;

UMLS CUI

C1844020;

Broader ORDO disease(s)
- Heterotaxia [ORDO Disease]
Currated CISMeF NLP mapping
- Heterotaxy, visceral, X-linked [MeSH concept]
- heterotaxy, visceral, X-linked [MeSH Supplementary Concept]
DO Cross reference
- visceral heterotaxy [DO Concept]
Genes related to phenotype
- Zic family, member 3 [OMIM gene]
HPO term(s)
- Abdominal situs inversus [HPO term]
- Absence of the sacrum [HPO term]
- Anal atresia [HPO term]
- Aqueductal stenosis [HPO term]
- Asplenia [HPO term]
- Atrial septal defect [HPO term]
- Atrioventricular canal defect [HPO term]
- Bilateral superior vena cava [HPO term]
- Bilateral talipes equinovarus [HPO term]
- Bilateral trilobed lungs [HPO term]
- Biliary atresia [HPO term]
- Block vertebrae [HPO term]
- Cardiomegaly [HPO term]
- Cerebellar hypoplasia [HPO term]
- Coarctation of aorta [HPO term]
- Common atrium [HPO term]
- Complete atrioventricular canal defect [HPO term]
- Congenital hip dislocation [HPO term]
- Congenital onset [HPO term]
- Cyanosis [HPO term]
- Dextrocardia [HPO term]
- Dextrotransposition of the great arteries [HPO term]
- Double outlet right ventricle [HPO term]
- Duodenal atresia [HPO term]
- Enlarged kidney [HPO term]
- Failure to thrive [HPO term]
- Hepatomegaly [HPO term]
- Horseshoe kidney [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic aortic arch [HPO term]
- Hypoplastic left heart [HPO term]
- Hypoplastic toenails [HPO term]
- Left superior vena cava draining to coronary sinus [HPO term]
- Low-set ears [HPO term]
- Mitral atresia [HPO term]
- Mitral stenosis [HPO term]
- Myelomeningocele [HPO term]
- Omphalocele [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent foramen ovale [HPO term]
- Polyhydramnios [HPO term]
- Polysplenia [HPO term]
- Posteriorly placed anus [HPO term]
- Pulmonic stenosis [HPO term]
- Renal agenesis [HPO term]
- Respiratory distress [HPO term]
- Right atrial isomerism [HPO term]
- Short long bone [HPO term]
- Single ventricle [HPO term]
- Subvalvular aortic stenosis [HPO term]
- Total anomalous pulmonary venous return [HPO term]
- Transposition of the great arteries [HPO term]
- Ventricular septal defect [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Heterotaxia [ORDO Disease]
See also inter- (CISMeF)
- ZIC3 wt Allele [NCIt concept]
- symbol withdrawn HTX1 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Heterotaxy, visceral, X-linked [MeSH concept]
- heterotaxy, visceral, X-linked [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- visceral heterotaxy [DO Concept]

Keyword's position in hierarchy(ies) :

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