Details of Disease

General Information of Disease (ID: DIS3JI56)

Disease Name Aortic valve disease 1
Synonyms
aortic valve disease; aortic valve, bicuspid; aortic stenosis, calcific; aortic valve, calcification of; bicuspid aortic valve; aortic valve disease 1; aortic valve disease caused by mutation in NOTCH1; AOVD1; Notch1 aortic valve disease; aortic valve disease caused by mutation in Notch1; NOTCH1 aortic valve disease
Definition Any aortic valve disease in which the cause of the disease is a mutation in the NOTCH1 gene.
Disease Hierarchy
DISKLYD7: Aortic valve disorder
DISL0BRK: Familial bicuspid aortic valve
DIS3JI56: Aortic valve disease 1
Disease Identifiers
MONDO ID
MONDO_0024523
MESH ID
D000082882
UMLS CUI
C3887892
OMIM ID
109730
MedGen ID
854610

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
NOTCH1 TTB1STW Limited Biomarker [1]
NOTCH1 TTB1STW Strong Autosomal dominant [2]
SMAD6 TTON5JB Strong GermlineCausalMutation [3]
ENPP1 TTZTIWS Definitive Biomarker [4]
------------------------------------------------------------------------------------
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GATA5 OTO81B63 Strong GermlineCausalMutation [5]
NOTCH1 OTI1WADQ Strong Autosomal dominant [2]
NKX2-5 OTS1SAWM Definitive GermlineCausalMutation [6]
------------------------------------------------------------------------------------

References

1 Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families.Genet Med. 2016 Sep;18(9):914-23. doi: 10.1038/gim.2015.193. Epub 2016 Jan 28.
2 Mutations in NOTCH1 cause Adams-Oliver syndrome. Am J Hum Genet. 2014 Sep 4;95(3):275-84. doi: 10.1016/j.ajhg.2014.07.011. Epub 2014 Aug 14.
3 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.
4 Inhibition of ectonucleotidase with ARL67156 prevents the development of calcific aortic valve disease in warfarin-treated rats.Eur J Pharmacol. 2012 Aug 15;689(1-3):139-46. doi: 10.1016/j.ejphar.2012.05.016. Epub 2012 May 31.
5 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.
6 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.