Details of Disease

General Information of Disease (ID: DISALTGF)

Disease Name Aortic aneurysm, familial thoracic 8
Synonyms
AAT8; aortic aneurysm, familial thoracic type 8; aortic aneurysm, familial thoracic 8; familial thoracic aortic aneurysm and aortic dissection caused by mutation in PRKG1; PRKG1 familial thoracic aortic aneurysm and aortic dissection
Definition Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene.
Disease Hierarchy
DIS069FB: Familial thoracic aortic aneurysm and aortic dissection
DISALTGF: Aortic aneurysm, familial thoracic 8
Disease Identifiers
MONDO ID
MONDO_0014187
UMLS CUI
C3809513
OMIM ID
615436
MedGen ID
815843

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
PRKG1 TT7IZSA Strong Autosomal dominant [1]
PRKG1 TT7IZSA Strong CausalMutation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PRKG1 OTPAS4LF Strong Autosomal dominant [1]
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References

1 One-pot (1-ethoxycarbonylcyclopropyl)triphenylphosphonium tetrafluoroborate ring-opening and Wittig reaction. Org Lett. 2011 Oct 7;13(19):5338-41. doi: 10.1021/ol202207f. Epub 2011 Sep 12.
2 PRKG1 and genetic diagnosis of early-onset thoracic aortic disease.Eur J Clin Invest. 2016 Sep;46(9):787-94. doi: 10.1111/eci.12662. Epub 2016 Aug 18.