Aortic aneurysm, familial thoracic 1

Preferred Label : Aortic aneurysm, familial thoracic 1;

Symbol : AAT1;

CISMeF acronym : AAT1; FAA1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Annuloaortic ectasia; Aortic dissection, familial; Aortic aneurysm, familial thoracic; Aneurysm, thoracic aortic; FAA1;

Included titles and symbols : Erdheim cystic medial necrosis of aorta;

Description : Aneurysms and dissections of the aorta usually result from degenerative changes in the aortic wall. Thoracic aortic aneurysms and dissections are primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. In contrast, degeneration leading to abdominal aortic aneurysm (100070) is usually caused by a combination of factors including age, atherosclerosis, hypertension, and infectious, inflammatory, or autoimmune processes. Medial necrosis and thoracic aortic aneurysm/dissection are known to occur in certain connective tissue diseases such as Marfan syndrome (154700), and vascular (type IV) Ehlers-Danlos syndrome (130050). More commonly, however, medial necrosis occurs in the absence of a clearly identifiable syndrome. - Genetic Heterogeneity of Thoracic Aortic Aneurysm Loci for isolated thoracic aortic aneurysm have been identified on chromosomes 11q (AAT1) and 5q (AAT2; 607087). Mutation in the MYH11 gene (160745) on chromosome 16p causes AAT4 (132900). Mutation in the ACTA2 gene (102620) on chromosome 10q causes AAT6 (611788). Mutation in the;

Prefixed ID : %607086;

Details

Origin ID

607086;

UMLS CUI

C0345050;

Automatic exact mappings (from CISMeF team)
- Alanine Aminotransferase 1 [NCIt concept]
- Congenital aneurysm of ascending aorta (disorder) [SNOMED CT concept]
- Familial aortic dissection [ICD-11 More detail]
- Familial aortic dissection [ORDO Disease]
- GPT wt Allele [NCIt concept]
- Medionecrosis of aorta (disorder) [SNOMED CT concept]
- Thoracic Aortic Aneurysm [NCIt concept]
- Thoracic aortic aneurysm [ICD-11 Subcategory]
- Thoracic aortic aneurysm [HPO term]
- Thoracic aortic aneurysm [MedDRA LLT]
- aortic aneurysm [MedlinePlus Topic]
- aortic aneurysm, thoracic [MeSH concept]
- aortic aneurysm, thoracic [MeSH Descriptor]
- cilia and flagella associated protein 91 [HGNC gene]
- cystic medial necrosis of aorta [MeSH Supplementary Concept]
- long-chain fatty acid-CoA ligase activity [GO term]
- thoracic aortic aneurysm [DO Concept]
Broader ORDO disease(s)
- Familial thoracic aortic aneurysm and aortic dissection [ORDO Disease]
CISMeF manual mappings
- familial thoracic aortic aneurysm [Disease (Nov.)]
Currated CISMeF NLP mapping
- Familial thoracic aortic aneurysm and aortic dissection [ORDO Disease]
- Familial thoracic aortic aneurysm and aortic dissection (disorder) [SNOMED CT concept]
- aortic aneurysm, familial thoracic 1 [MeSH concept]
- aortic aneurysm, familial thoracic 1 [MeSH Supplementary Concept]
DO Cross reference
- thoracic aortic aneurysm [DO Concept]
ORDO concept(s)
- Familial aortic dissection [ORDO Disease]
- Familial thoracic aortic aneurysm and aortic dissection [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital aneurysm of ascending aorta (disorder) [SNOMED CT concept]
- Familial thoracic aortic aneurysm and aortic dissection [ORDO Disease]
- Familial thoracic aortic aneurysm or dissection [ICD-11 More detail]
- aortic aneurysm, familial thoracic 1 [MeSH Supplementary Concept]
- aortic aneurysm, familial thoracic 1 [MeSH concept]
- familial thoracic aortic aneurysm [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients