HETEROTAXY, VISCERAL, 2, AUTOSOMAL

General Information (adopted from Orphanet):

Synonyms, Signs: HTX
HTX2
Number of Symptoms 5
OrphanetNr:
OMIM Id: 605376
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:0003363) Abdominal situs inversus 19 / 7739
2
(HPO:0006695) Atrioventricular canal defect 27 / 7739
3
(HPO:0011599) Mesocardia 2 / 7739
4
(HPO:0011537) Left atrial isomerism 2 / 7739
5
(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 In the patient reported by Peeters et al. (2001), routine ultrasound examination at gestational age 28 weeks had shown atrioventricular septal defect and abdominal situs inversus. Chromosome analysis after amniocentesis demonstrated a balanced translocation with breakpoints at 6q21 ...
Molecular genetics OMIM Bamford et al. (2000) described loss-of-function mutations in the CFC1 gene (605194.0001, 605194.0002) in patients with heterotaxic phenotypes.