Details of Disease

General Information of Disease (ID: DISNTSXF)

Disease Name Aortic aneurysm, familial thoracic 6
Synonyms
AAT6; familial thoracic aortic aneurysm with livedo reticularis and iris flocculi; ACTA2 familial thoracic aortic aneurysm and aortic dissection; aortic aneurysm, familial thoracic type 6; familial thoracic aortic aneurysm and aortic dissection caused by mutation in ACTA2; aortic aneurysm, familial thoracic 6
Definition Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene.
Disease Hierarchy
DIS069FB: Familial thoracic aortic aneurysm and aortic dissection
DISNTSXF: Aortic aneurysm, familial thoracic 6
Disease Identifiers
MONDO ID
MONDO_0012730
MESH ID
C567085
UMLS CUI
C2673186
OMIM ID
611788
MedGen ID
435866

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
STAMBPL1 OTI4CYTF moderate CausalMutation [1]
ACTA2 OTEDLG8E Strong Autosomal dominant [2]
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References

1 Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings.Brain Dev. 2017 Jan;39(1):62-66. doi: 10.1016/j.braindev.2016.08.003. Epub 2016 Aug 25.
2 Clinical Remission of Delta-Aminolevulinic Acid Dehydratase Deficiency Through Suppression of Erythroid Heme Synthesis. Hepatology. 2019 Jul;70(1):434-436. doi: 10.1002/hep.30543. Epub 2019 Jun 6.