Details of Disease

General Information of Disease (ID: DISLIFJ4)

Disease Name Aortic aneurysm, familial thoracic 4
Synonyms
AAT4; FAA4; aortic aneurysm/aortic dissection and patent ductus arteriosus; familial thoracic aortic aneurysm and aortic dissection caused by mutation in MYH11; MYH11 familial thoracic aortic aneurysm and aortic dissection; aortic aneurysm, familial thoracic 4; aortic aneurysm, familial thoracic type 4
Definition Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene.
Disease Hierarchy
DIS069FB: Familial thoracic aortic aneurysm and aortic dissection
DISLIFJ4: Aortic aneurysm, familial thoracic 4
Disease Identifiers
MONDO ID
MONDO_0007568
MESH ID
C537784
UMLS CUI
C1851504
OMIM ID
132900
MedGen ID
338704

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MYH11 OTVNVWY3 Strong Autosomal dominant [1]
NDE1 OT2N8Q17 Definitive CausalMutation [2]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 Genetic testing of 248 Chinese aortopathy patients using a panel assay.Sci Rep. 2016 Sep 9;6:33002. doi: 10.1038/srep33002.