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arterial tortuosity syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.
Uniprot Description An autosomal recessive disorder characterized by tortuosity and elongation of major arteries, often resulting in death at young age. Other typical features include aneurysms of large arteries and stenosis of the pulmonary artery, in association with facial features and several connective tissue manifestations such as soft skin and joint laxity. Histopathological findings include fragmentation of elastic fibers in the tunica media of large arteries.
Disease Ontology Description A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta.
Mondo Term and Equivalent IDs
MONDO:0008818:  arterial tortuosity syndrome
GARD:0000774: 
ICD10:Q87.82: 
MESH:C565942: 
Orphanet:3342: 
SCTID:458432002: 
UMLS:C1859726: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)