Details of Disease

General Information of Disease (ID: DISYOLDK)

Disease Name Aortic aneurysm, familial thoracic 12
Synonyms AAT12; aortic aneurysm, familial thoracic 12
Disease Hierarchy
DIS069FB: Familial thoracic aortic aneurysm and aortic dissection
DISYOLDK: Aortic aneurysm, familial thoracic 12
Disease Identifiers
MONDO ID
MONDO_0030731
UMLS CUI
C5676959
OMIM ID
619825
MedGen ID
1802657

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
THSD4 OTXDBMDC Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm. Genet Med. 2021 Jan;23(1):111-122. doi: 10.1038/s41436-020-00947-4. Epub 2020 Aug 28.