AORTIC ANEURYSM, FAMILIAL THORACIC 8

General Information (adopted from Orphanet):

Synonyms, Signs: AAT8
Number of Symptoms 9
OrphanetNr:
OMIM Id: 615436
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:0004953) Abdominal aortic aneurysm 3 / 7739
2
(HPO:0004942) Aortic aneurysm 10 / 7739
3
(HPO:0001724) Aortic dilatation 24 / 7739
4
(MedDRA:10048631) Coronary artery dissection 1 / 7739
5
(OMIM) Aneurysm of interatrial septum (in some patients) 2 / 7739
6
(MedDRA:10011071) Coronary artery aneurysm 1 / 7739
7
(OMIM) Small vessel cerebrovascular disease (rare) 1 / 7739
8
(OMIM) Thoracic aortic dissection 1 / 7739
9
(OMIM) Tortuosity of thoracic aorta (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Tran-Fadulu et al. (2006) described 3 families with autosomal dominant inheritance of thoracic aortic aneurysms leading to either type A or type B dissections and a young age of onset of aortic dissections in both men and women. ...
Molecular genetics OMIM By exome sequencing in a large 6-generation family segregating autosomal dominant thoracic aortic aneurysm and dissection, originally described by Tran-Fadulu et al. (2006) (family TAA216), Guo et al. (2013) excluded mutations in known genes associated with familial thoracic ...