Arterial tortuosity syndrome
From Infogalactic: the planetary knowledge core
Arterial tortuosity syndrome (ATS) | |
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Classification and external resources | |
Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
OMIM | 208050 |
Patient UK | Arterial tortuosity syndrome |
Arterial tortuosity syndrome (ATS) 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, however symptoms vary depending on the patient. Because ATS is so rare, not much is known about the disease.
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
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