CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2

General Information (adopted from Orphanet):

Synonyms, Signs: CHTD2
Number of Symptoms 3
OrphanetNr:
OMIM Id: 614980
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:0001647) Bicuspid aortic valve 34 / 7739
2
 (HPO:0001724) Aortic dilatation 24 / 7739
3
 (HPO:0001682) Subaortic stenosis 17 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Thienpont et al. (2010) described 2 patients with multiple types of congenital heart defects who were found to have a mutation in the TAB2 gene. One patient was a woman with left ventricular outflow tract obstruction, subaortic stenosis ...
Molecular genetics OMIM Thienpont et al. (2010) analyzed the TAB2 gene in 402 patients with cardiac outflow tract defects and identified heterozygosity for missense mutations in 2 patients with multiple types of congenital heart defects (605101.0001 and 605101.0002); neither mutation was ...