Details of Disease | DrugMAP

General Information of Disease (ID: DISX2ZNN)

Disease Name	Aortic aneurysm, familial thoracic 10
Synonyms	familial thoracic aortic aneurysm and aortic dissection caused by mutation in LOX; aortic aneurysm, familial thoracic type 10; LOX familial thoracic aortic aneurysm and aortic dissection; AAT10; aortic aneurysm, familial thoracic 10
Definition	Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene.
Disease Hierarchy	DIS069FB: Familial thoracic aortic aneurysm and aortic dissection DISX2ZNN: Aortic aneurysm, familial thoracic 10
Disease Identifiers	MONDO ID MONDO_0014950 UMLS CUI C4284414 OMIM ID 617168 MedGen ID 924785

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
LOX	TT4E26T	Strong	Autosomal dominant	[1]
LOX	TTQHNAM	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LOX	OT1C2HIU	Strong	Autosomal dominant	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2	LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. Circ Res. 2016 Mar 18;118(6):928-34. doi: 10.1161/CIRCRESAHA.115.307130. Epub 2016 Jan 12.