Aortic aneurysm, familial thoracic 6

Preferred Label : Aortic aneurysm, familial thoracic 6;

Symbol : AAT6;

CISMeF acronym : AAT6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Familial thoracic aortic aneurysm with livedo reticularis and iris flocculi;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the alpha-2 actin gene (ACTA2, 102620.0001);

Prefixed ID : #611788;

Details

Origin ID

611788;

UMLS CUI

C2673186;

Automatic exact mappings (from CISMeF team)
- ACTA2 wt Allele [NCIt concept]
- Familial thoracic aortic aneurysm and aortic dissection [ORDO Disease]
Broader ORDO disease(s)
- Familial thoracic aortic aneurysm and aortic dissection [ORDO Disease]
Currated CISMeF NLP mapping
- aortic aneurysm, familial thoracic 6 [MeSH concept]
- aortic aneurysm, familial thoracic 6 [MeSH Supplementary Concept]
DO Cross reference
- thoracic aortic aneurysm [DO Concept]
Genes related to phenotype
- Actin, alpha-2, smooth muscle, aorta [OMIM gene]
HPO term(s)
- Aortic aneurysm [HPO term]
- Ascending aortic dissection [HPO term]
- Ascending tubular aorta aneurysm [HPO term]
- Autosomal dominant inheritance [HPO term]
- Descending aortic dissection [HPO term]
- Iris flocculi [HPO term]
- Livedo reticularis [HPO term]
- Moyamoya phenomenon [HPO term]
- Premature coronary artery atherosclerosis [HPO term]
- Thoracic aortic aneurysm [HPO term]
ORDO concept(s)
- Familial thoracic aortic aneurysm and aortic dissection [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- aortic aneurysm, familial thoracic 6 [MeSH Supplementary Concept]
- aortic aneurysm, familial thoracic 6 [MeSH concept]

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