Aortic aneurysm, familial thoracic 4

Preferred Label : Aortic aneurysm, familial thoracic 4;

Symbol : AAT4;

CISMeF acronym : AAT4; FAA4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : FAA4; Aortic aneurysm/aortic dissection and patent ductus arteriosus;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the myosin heavy chain 11 gene (MYH11, 160745.0001);

Prefixed ID : #132900;

Details

Origin ID

132900;

UMLS CUI

C1851504;

Automatic exact mappings (from CISMeF team)
- Familial thoracic aortic aneurysm and aortic dissection [ORDO Disease]
- MYH11 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Familial thoracic aortic aneurysm and aortic dissection [ORDO Disease]
Currated CISMeF NLP mapping
- aortic aneurysm, familial thoracic 4 [MeSH concept]
- aortic aneurysm, familial thoracic 4 [MeSH Supplementary Concept]
DO Cross reference
- thoracic aortic aneurysm [DO Concept]
Genes related to phenotype
- Myosin, heavy chain 11, smooth muscle [OMIM gene]
HPO term(s)
- Abnormal iris pigmentation [HPO term]
- Abnormal left ventricular function [HPO term]
- Anterior cerebral artery stenosis [HPO term]
- Aortic dissection [HPO term]
- Aortic regurgitation [HPO term]
- Ascending aortic dissection [HPO term]
- Ascending tubular aorta aneurysm [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Carotid artery stenosis [HPO term]
- Coronary artery atherosclerosis [HPO term]
- Cystic medial necrosis [HPO term]
- Descending aortic dissection [HPO term]
- Livedo reticularis [HPO term]
- Middle cerebral artery stenosis [HPO term]
- Patent ductus arteriosus [HPO term]
- Posterior cerebral artery stenosis [HPO term]
- Stroke [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 4 [MeSH Supplementary Concept]
- aortic aneurysm, familial thoracic 4 [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients