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GENATLAS PHENOTYPE
last update : 23-03-2020
Symbol ATS
Location 20q13.12
Name arterial tortuosity syndrome
Corresponding gene SLC2A10
Other symbol(s) ATORS
Main clinical features
  • characterized by twisting and lengthening of the major arteries, hypermobility of the joints, and laxity of skin (PMID: 20547159))
  • generalized tortuosity and elongation of all major arteries including the aorta with telangiectases of the cheeks, aortic regurgitation and histologic fragmentation of the internal elastic membrane of arteries associated to typical facies, micrognathia, elongated face, blepharophimosis and beaked nose, skin laxity, contractures, joint laxity, cleft palate or bifid uvula
  • Genetic determination autosomal recessive
    Function/system disorder cardiovascular
    eye
    dermatology
    Type disease
    Remark(s) . loss of SLC2A10 results in defective collagen and/or elastin (PMID: 20547159))