Details of Disease

General Information of Disease (ID: DISOMB0X)

Disease Name Aortic valve disease 2
Synonyms aortic valve stenosis; bicuspid aortic valve; AOVD2; SMAD6 aortic valve disease; aortic valve disease type 2; aortic valve disease 2; aortic valve disease caused by mutation in SMAD6
Definition Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene.
Disease Hierarchy
DISKLYD7: Aortic valve disorder
DISL0BRK: Familial bicuspid aortic valve
DISOMB0X: Aortic valve disease 2
Disease Identifiers
MONDO ID
MONDO_0013902
UMLS CUI
C3542024
OMIM ID
614823
MedGen ID
762200

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
SMAD6 TTON5JB Moderate Autosomal dominant [1]
SMAD6 TTON5JB moderate Biomarker [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TBX5 OT70PISV Limited CausalMutation [3]
SMAD6 OTUZZWUD Moderate Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype.Hum Genet. 2019 Jun;138(6):625-634. doi: 10.1007/s00439-019-02011-x. Epub 2019 Apr 8.
3 The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects.Am J Med Genet A. 2015 Aug;167A(8):1822-9. doi: 10.1002/ajmg.a.37108. Epub 2015 Apr 30.