Arterial tortuosity syndrome

Arterial tortuosity syndrome
Classification and external resources
OMIM 208050

Arterial tortuosity syndrome is a rare congenital connective tissue condition disorder characterized by elongation and generalized tortuosity of the major arteries including the aorta. It is associated with hyperextensible skin and hypermobility of joints.

It exhibits autosomal recessive inheritance, and the responsible gene is located at chromosome 20q13.[1]

It is associated with GLUT10 (also known as SLC2A10)[2] and TGFBR2.[3]

References

  1. ^ Coucke PJ, Wessels MW, Van Acker P, et al. (2003). "Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13". J. Med. Genet. 40 (10): 747–751. doi:10.1136/jmg.40.10.747. PMC 1735278. PMID 14569121. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1735278. 
  2. ^ Faiyaz-Ul-Haque M, Zaidi SH, Wahab AA, et al. (August 2008). "Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families". Clin. Genet. 74 (2): 189–93. doi:10.1111/j.1399-0004.2008.01049.x. PMID 18565096. http://www.blackwell-synergy.com/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=2008&volume=74&issue=2&spage=189. 
  3. ^ Schievink, W. I.; Gordon, O. K.; Hyland, J. C.; Ala-Kokko, L. (2008). "Absence of TGFBR2 mutations in patients with spontaneous spinal CSF leaks and intracranial hypotension". The Journal of Headache and Pain 9 (2): 99. doi:10.1007/s10194-008-0017-y. PMID 18264665.  edit
Genetic disorder, membrane: Solute carrier disorders
1-10
11-20
21-40
see also solute carrier family
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk