HETEROTAXY, VISCERAL, 1, X-LINKED

General Information (adopted from Orphanet):

Synonyms, Signs: DEXTROCARDIA WITH OTHER CARDIAC MALFORMATIONS
CHTD1, INCLUDED
LATERALITY, X-LINKED
SITUS INVERSUS, COMPLEX CARDIAC DEFECTS, AND SPLENIC DEFECTS, X-LINKED CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED, INCLUDED
HTX1
Number of Symptoms 10
OrphanetNr:
OMIM Id: 306955
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001746) Asplenia 19 / 7739
2
(HPO:0003363) Abdominal situs inversus 19 / 7739
3
(HPO:0001748) Polysplenia 14 / 7739
4
(HPO:0001629) Ventricular septal defect 316 / 7739
5
(HPO:0001651) Dextrocardia 38 / 7739
6
(HPO:0001643) Patent ductus arteriosus 228 / 7739
7
(HPO:0001642) Pulmonic stenosis 89 / 7739
8
(OMIM) Corrected transposition of great arteries 1 / 7739
9
(HPO:0001417) X-linked inheritance 173 / 7739
10
(OMIM) Asplenia and/or polysplenia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) - 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 ...

Clinical Description OMIM Mathias et al. (1987) described a black family in which 9 males in 2 generations had variable expression of altered laterality of visceral organs inherited in an X-linked recessive pattern. Eight males had complex congenital heart defects, including ...
Genotype-Phenotype Correlations OMIM Megarbane et al. (2000) reported a Lebanese family in which 2 maternal cousins died very early in life from transposition of the great arteries associated with 1 or several other cardiac defects. Various minor midline defects were also ...
Molecular genetics OMIM In affected members of the family with X-linked heterotaxy originally reported by Mathias et al. (1987), Gebbia et al. (1997) identified a heterozygous mutation in the ZIC3 gene (300265.0001). They identified 4 different mutations in the ZIC3 (see, ...