Details of Disease | DrugMAP

General Information of Disease (ID: DIS1ZA91)

Disease Name	Aortic aneurysm, familial thoracic 9
Synonyms	aortic aneurysm, thoracic, with or without aortic dissection; AAT9; MFAP5 familial thoracic aortic aneurysm and aortic dissection; aortic aneurysm, familial thoracic type 9; aortic aneurysm, familial thoracic 9; familial thoracic aortic aneurysm and aortic dissection caused by mutation in MFAP5
Definition	Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MFAP5 gene.
Disease Hierarchy	DIS069FB: Familial thoracic aortic aneurysm and aortic dissection DIS1ZA91: Aortic aneurysm, familial thoracic 9
Disease Identifiers	MONDO ID MONDO_0014514 UMLS CUI C4015368 OMIM ID 616166 MedGen ID 863805

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MFAP5	OT46VXSG	Strong	Autosomal dominant	[1]
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References

1	Microfibril-associated glycoprotein 2 (MAGP2) loss of function has pleiotropic effects in vivo. J Biol Chem. 2013 Oct 4;288(40):28869-80. doi: 10.1074/jbc.M113.497727. Epub 2013 Aug 20.