HETEROTAXY, VISCERAL, 6, AUTOSOMAL

General Information (adopted from Orphanet):

Synonyms, Signs: HTX6
Number of Symptoms 10
OrphanetNr:
OMIM Id: 614779
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003363) Abdominal situs inversus 19 / 7739
2
(HPO:0001651) Dextrocardia 38 / 7739
3
(HPO:0001669) Transposition of the great arteries 36 / 7739
4
(OMIM) Complex congenital heart malformation (in 1 patient) 1 / 7739
5
(OMIM) Inverted spleen 1 / 7739
6
(HPO:0003828) Variable expressivity 130 / 7739
7
(MedDRA:10052752) Accessory liver lobe 3 / 7739
8
(OMIM) Anomalous pulmonary drainage 1 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
(OMIM) Normal ciliary structure and function 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Perles et al. (2012) reported 2 brothers, born of consanguineous Arab-Muslim parents, with variable manifestations of visceral heterotaxy. The younger brother, aged 14 years, presented with congenital heart disease and severe cyanosis. Echocardiography showed a complex cardiovascular defect ...
Molecular genetics OMIM By homozygosity mapping followed by candidate gene analysis of 2 brothers with heterotaxy-6, Perles et al. (2012) identified a homozygous splice site mutation in the CCDC11 gene (614759.0001).