Details of Disease

General Information of Disease (ID: DISEZ71K)

Disease Name Aortic aneurysm, familial thoracic 7
Synonyms aortic dissection, familial, with or without aortic aneurysm; AAT7; aortic aneurysm, familial thoracic type 7; aortic aneurysm, familial thoracic 7
Disease Hierarchy
DIS069FB: Familial thoracic aortic aneurysm and aortic dissection
DISEZ71K: Aortic aneurysm, familial thoracic 7
Disease Identifiers
MONDO ID
MONDO_0013418
UMLS CUI
C3151077
OMIM ID
613780
MedGen ID
462427

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
MYLK TT18ETS moderate CausalMutation [1]
MYLK TT18ETS Strong Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MYLK OT78QB4A Strong Autosomal dominant [2]
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References

1 Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history.Clin Genet. 2017 Oct;92(4):444-446. doi: 10.1111/cge.13000. Epub 2017 Apr 12.
2 Dedicated myosin light chain kinases with diverse cellular functions. J Biol Chem. 2001 Feb 16;276(7):4527-30. doi: 10.1074/jbc.R000028200. Epub 2000 Nov 28.