Aortic aneurysm, familial abdominal, 1

Preferred Label : Aortic aneurysm, familial abdominal, 1;

Symbol : AAA1;

CISMeF acronym : AAA; AAA1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : AAA; Abdominal aortic aneurysm; Aneurysm, abdominal aortic;

Description : One locus for abdominal aortic aneurysm (AAA1) maps to chromosome 19q13. Abdominal aortic aneurysm is a multifactorial disorder with multiple genetic and environmental risk factors. The disorder may occur as part of a heritable syndrome or in isolation (summary by Kuivaniemi et al., 2003). - Genetic Heterogeneity of Abdominal Aortic Aneurysm Other mapped loci for abdominal aortic aneurysm include AAA2 (609782) on chromosome 4q31; AAA3 (611891) on chromosome 9p21; and AAA4 (614375) on chromosome 12q13.3.;

Inheritance : Autosomal dominant vs. recessive at an autosomal major locus or multifactorial; COL3A1 gene (120180.0004) mutations cause about 2%;

Prefixed ID : %100070;

Details

Origin ID

100070;

UMLS CUI

C1853365;

Automatic exact mappings (from CISMeF team)
- AAAS wt Allele [NCIt concept]
- Abdominal Aortic Aneurysm [NCIt concept]
- Abdominal aortic aneurysm [ICD-11 Subcategory]
- Abdominal aortic aneurysm [HPO term]
- Abdominal aortic aneurysm [MedDRA LLT]
- Acute apical abscess (disorder) [SNOMED CT concept]
- Amyloid-Beta Precursor Protein [NCIt concept]
- NPSR1 antisense RNA 1 [HGNC gene]
- abdominal aortic aneurysm [DO Concept]
- amino acids, aromatic [MeSH Descriptor]
- amino acids, aromatic [MeSH concept]
- aortic aneurysm [MedlinePlus Topic]
- aortic aneurysm, abdominal [MeSH Descriptor]
- aortic aneurysm, abdominal [MeSH concept]
- aromatic amino acid, nos [SNOMED Notion]
- aryl-acylamidase activity [GO term]
- obsolete Dilatation of abdominal aorta [HPO term]
Currated CISMeF NLP mapping
- aortic aneurysm, familial abdominal 1 [MeSH Supplementary Concept]
- aortic aneurysm, familial abdominal 1 [MeSH concept]
DO Cross reference
- abdominal aortic aneurysm [DO Concept]
False automatic mappings
- APP wt Allele [NCIt concept]
- American Association for the Advancement of Science [NCIt concept]
HPO term(s)
- Abdominal aortic aneurysm [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Multifactorial inheritance [HPO term]
- Usually autosomal dominant [HPO term]
ORDO concept(s)
- Familial abdominal aortic aneurysm [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial abdominal aortic aneurysm [ORDO Disease]
- aortic aneurysm, familial abdominal 1 [MeSH Supplementary Concept]
- aortic aneurysm, familial abdominal 1 [MeSH concept]
Validated automatic mappings to NTBT
- Abdominal aortic aneurysm (disorder) [SNOMED CT concept]
- Familial abdominal aortic aneurysm [ORDO Disease]
- Familial abdominal aortic aneurysm (disorder) [SNOMED CT concept]

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