AORTIC ANEURYSM, FAMILIAL THORACIC 7

General Information (adopted from Orphanet):

Synonyms, Signs: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM
AAT7
Number of Symptoms 3
OrphanetNr:
OMIM Id: 613780
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:0004942) Aortic aneurysm 10 / 7739
3
(HPO:0002647) Aortic dissection 14 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM Wang et al. (2010) analyzed the MYLK gene in 193 probands from unrelated families in which 2 or more members had thoracic aortic aneurysms or dissections. They identified 2 heterozygous variants (600922.0001 and 600922.0002) that segregated with aortic ...