AORTIC ANEURYSM, FAMILIAL THORACIC 6

General Information (adopted from Orphanet):

Synonyms, Signs: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
AAT6
Number of Symptoms 5
OrphanetNr:
OMIM Id: 611788
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:0001724) Aortic dilatation 24 / 7739
2
(HPO:0011834) Moyamoya phenomenon 4 / 7739
3
(HPO:0004933) Ascending aortic dissection 6 / 7739
4
(HPO:0004942) Aortic aneurysm 10 / 7739
5
(HPO:0005181) Premature coronary artery disease 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Guo et al. (2007) identified a large family with autosomal dominant inheritance, with decreased penetrance, of thoracic aortic aneurysms leading to acute aortic dissections (TAAD). Segregation of the disorder was not linked to any known locus. On examination, ...
Molecular genetics OMIM In the family described by them with thoracic aortic aneurysms and dissections and livedo reticularis linked to 10q23-q24, Guo et al. (2007) identified an arg149-to-cys substitution in the ACTA2 gene (R149C; 102620.0001). The mutation segregated with livedo reticularis ...