HETEROTAXY, VISCERAL, 4, AUTOSOMAL

General Information (adopted from Orphanet):

Synonyms, Signs: HTX4
Number of Symptoms 6
OrphanetNr:
OMIM Id: 613751
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0010452) Ectopia of the spleen 1 / 7739
2
(HPO:0001651) Dextrocardia 38 / 7739
3
(HPO:0001629) Ventricular septal defect 316 / 7739
4
(HPO:0006695) Atrioventricular canal defect 27 / 7739
5
(HPO:0012020) Right aortic arch 9 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Kosaki et al. (1999) reported 3 unrelated patients with left-right axis malformations. The first patient had ventricular inversion (dextrocardia), but intact ventricular septum and normally related great arteries. The patient also had a right aortic arch and a ...
Molecular genetics OMIM In 3 unrelated patients with left-right axis malformations, Kosaki et al. (1999) identified heterozygous mutations in the ACVR2B gene (602730.0001-602730.0002).