Details of Disease

General Information of Disease (ID: DISL0BRK)

Disease Name Familial bicuspid aortic valve
Synonyms aortic valve disease 1; aortic valve disease type 1; AOVD1; familial BAV
Definition
A rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).
Disease Hierarchy
DISQCXZX: Disorder of development or morphogenesis
DISMT2VZ: Cardiogenetic disease
DISKLYD7: Aortic valve disorder
DISL0BRK: Familial bicuspid aortic valve
Disease Identifiers
MONDO ID
MONDO_0007194
UMLS CUI
C4749284
MedGen ID
1670287
Orphanet ID
402075
SNOMED CT ID
770435005

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
NOTCH1 TTB1STW Supportive Autosomal dominant [1]
SMAD6 TTON5JB Supportive Autosomal dominant [2]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GATA5 OTO81B63 Supportive Autosomal dominant [3]
NKX2-5 OTS1SAWM Supportive Autosomal dominant [4]
NOTCH1 OTI1WADQ Supportive Autosomal dominant [1]
SMAD6 OTUZZWUD Supportive Autosomal dominant [2]
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References

1 Mutations in NOTCH1 cause aortic valve disease. Nature. 2005 Sep 8;437(7056):270-4. doi: 10.1038/nature03940. Epub 2005 Jul 17.
2 Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation. Hum Mutat. 2012 Apr;33(4):720-7. doi: 10.1002/humu.22030. Epub 2012 Feb 14.
3 GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve. Int J Mol Med. 2014 May;33(5):1219-26. doi: 10.3892/ijmm.2014.1700. Epub 2014 Mar 14.
4 A novel NKX2.5 loss-of-function mutation associated with congenital bicuspid aortic valve. Am J Cardiol. 2014 Dec 15;114(12):1891-5. doi: 10.1016/j.amjcard.2014.09.028. Epub 2014 Sep 28.