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Arterial Tortuosity Syndrome MeSH Supplementary Concept Data 2023


MeSH Supplementary
Arterial Tortuosity Syndrome
Unique ID
C565942
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C565942
Entry Term(s)
Arterial Tortuosity
Registry Number
0
Heading Mapped to
Arteries / *abnormalities
*Joint Instability
*Skin Diseases, Genetic
*Vascular Malformations
Frequency
100
Note
A hereditary autosomal recessive disorder characterized by abnormal twists and turns (tortuosity) of the arteries due to excessive elongation. Affected individuals are susceptible to ANEURYSM and arterial STENOSIS and may also have respiratory, eye, facial, skin, and joint abnormalities. Mutations in the SLC2A10 gene have been identified. OMIM: 208050
Date of Entry
2012/11/05
Revision Date
2015/08/17
Arterial Tortuosity Syndrome Preferred
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