Details of Disease

General Information of Disease (ID: DIS8FSJD)

Disease Name Supravalvular aortic stenosis
Synonyms
aortic supravalvular stenosis; supravalvar aortic stenosis, Eisenberg type; supravalvular aortic stenosis (disease); supravalvar aortic stenosis; SVAS; supravalvular aortic stenosis; supra-valvular aortic stenosis
Definition
SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis.
Disease Hierarchy
DISMT2VZ: Cardiogenetic disease
DISW7AQ9: Aortic valve stenosis
DIS8FSJD: Supravalvular aortic stenosis
Disease Identifiers
MONDO ID
MONDO_0008504
MESH ID
D021921
UMLS CUI
C0003499
OMIM ID
185500
MedGen ID
2001
HPO ID
HP:0004381
Orphanet ID
3193
SNOMED CT ID
268185002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PDLIM1 OT4EGCPG Limited Genetic Variation [1]
CASQ2 OT09MNQ8 moderate ModifyingMutation [2]
GTF2IRD1 OTEG9KU1 Strong Biomarker [3]
ELN OTFSO7PG Definitive Autosomal dominant [4]
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References

1 The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome.Eur J Hum Genet. 2002 Jun;10(6):351-61. doi: 10.1038/sj.ejhg.5200812.
2 Age-related differences in the expression of proto-oncogene and contractile protein genes in response to pressure overload in the rat myocardium.J Clin Invest. 1992 Mar;89(3):939-46. doi: 10.1172/JCI115675.
3 A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome.Eur J Hum Genet. 1999 Oct-Nov;7(7):737-47. doi: 10.1038/sj.ejhg.5200396.
4 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.