Arterial Tortuosity Syndrome

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Yang, C. Arterial Tortuosity Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4789 (accessed on 28 September 2026).

Yang C. Arterial Tortuosity Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4789. Accessed September 28, 2026.

Yang, Catherine. "Arterial Tortuosity Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4789 (accessed September 28, 2026).

Yang, C. (2020, December 24). Arterial Tortuosity Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4789

Yang, Catherine. "Arterial Tortuosity Syndrome." Encyclopedia. Web. 24 December, 2020.

Arterial Tortuosity Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/arterial-tortuosity-syndrome

Arterial tortuosity syndrome is a disorder that affects connective tissue. Connective tissue provides strength and flexibility to structures throughout the body, including blood vessels, skin, joints, and the gastrointestinal tract.

genetic conditions

References

Akhurst RJ. A sweet link between TGFbeta and vascular disease? Nat Genet. 2006Apr;38(4):400-1.
Callewaert BL, Willaert A, Kerstjens-Frederikse WS, De Backer J, Devriendt K, Albrecht B, Ramos-Arroyo MA, Doco-Fenzy M, Hennekam RC, Pyeritz RE, Krogmann ON, Gillessen-kaesbach G, Wakeling EL, Nik-zainal S, Francannet C, Mauran P, Booth C,Barrow M, Dekens R, Loeys BL, Coucke PJ, De Paepe AM. Arterial tortuositysyndrome: clinical and molecular findings in 12 newly identified families. HumMutat. 2008 Jan;29(1):150-8.
Castori M, Ritelli M, Zoppi N, Molisso L, Chiarelli N, Zaccagna F, Grammatico P, Colombi M. Adult presentation of arterial tortuosity syndrome in a 51-year-oldwoman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene. Am J Med Genet A. 2012 May;158A(5):1164-9. doi: 10.1002/ajmg.a.35266.
Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, Fox JE,Mancini GM, Kambouris M, Gardella R, Facchetti F, Willems PJ, Forsyth R, DietzHC, Barlati S, Colombi M, Loeys B, De Paepe A. Mutations in the facilitativeglucose transporter GLUT10 alter angiogenesis and cause arterial tortuositysyndrome. Nat Genet. 2006 Apr;38(4):452-7.
Ritelli M, Chiarelli N, Dordoni C, Reffo E, Venturini M, Quinzani S, MonicaMD, Scarano G, Santoro G, Russo MG, Calzavara-Pinton P, Milanesi O, Colombi M.Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrentSLC2A10 missense mutations in three families with severe cardiopulmonarycomplications in infancy and a literature review. BMC Med Genet. 2014 Nov6;15:122. doi: 10.1186/s12881-014-0122-5. Review.
Ritelli M, Drera B, Vicchio M, Puppini G, Biban P, Pilati M, Prioli MA,Barlati S, Colombi M. Arterial tortuosity syndrome in two Italian paediatricpatients. Orphanet J Rare Dis. 2009 Sep 25;4:20. doi: 10.1186/1750-1172-4-20.
Segade F. Glucose transporter 10 and arterial tortuosity syndrome: the vitaminC connection. FEBS Lett. 2010 Jul 16;584(14):2990-4. doi:10.1016/j.febslet.2010.06.011.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

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