Arterial Tortuosity Syndrome malady
Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Skin diseases, Fetal diseases
Aliases & Descriptions for Arterial Tortuosity Syndrome:
Orphanet epidemiological data:51
arterial tortuosity syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Cardiovascular diseases, Skin diseases
Rare circulatory system diseases
Rare skin diseases
Developmental anomalies during embryogenesis
NIH Rare Diseases:45 Arterial tortuosity syndrome is a disorder that affects connective tissue (a tissue that provides strength and flexibility to structures throughout the body). it is characterized by blood vessel abnormalities, particularly abnormal twists and turns (tortuosity) of the blood vessels that carry blood from the heart to the rest of the body (the arteries). other blood vessel abnormalities that may occur in this disorder include constriction (stenosis) and abnormal bulging (aneurysm) of vessels, as well as small clusters of enlarged blood vessels just under the skin (telangiectasia). other features include joints that are either loose and very flexible (hypermobile) or that have deformities limiting movement (contractures), soft and stretchable skin, long, slender fingers and toes (arachnodactyly); curvature of the spine (scoliosis); or a chest that is either sunken (pectus excavatum) or protruding (pectus carinatum), protrusion of organs through gaps in muscles (hernias), elongation of the intestines, or pouches called diverticula in the intestinal walls. people with arterial tortuosity syndrome often look older than their age and have distinctive facial features. the cornea, which is the clear front covering of the eye, may be cone-shaped and abnormally thin (keratoconus). arterial tortuosity syndrome is caused by alterations (mutations) in the slc2a10 gene. aneurysms and focal stenoses are corrected with surgery. many specialists may be needed for the best managment of the condition. last updated: 7/4/2015
MalaCards based summary: Arterial Tortuosity Syndrome, also known as ats, is related to retinal arteries, tortuosity of and retinal arterial tortuosity, and has symptoms including telangiectasia of the skin, abnormality of the carotid arteries and dilatation of the ascending aorta. An important gene associated with Arterial Tortuosity Syndrome is SLC2A10 (Solute Carrier Family 2 Member 10), and among its related pathways are Cell adhesion_Plasmin signaling and NCAM1 interactions. Affiliated tissues include skin, heart and eye, and related mouse phenotypes are respiratory system and integument.
Disease Ontology:10 A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta.
Genetics Home Reference:23 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.
UniProtKB/Swiss-Prot:67 Arterial tortuosity syndrome: 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.
Wikipedia:68 Arterial tortuosity syndrome (ATS) is a rare congenital connective tissue condition disorder... more...
Description from OMIM:49 208050
GeneReviews summary for NBK253404
Symptoms by clinical synopsis from OMIM:208050
Clinical features from OMIM:208050
Symptoms:51 (show all 46)
HPO human phenotypes related to Arterial Tortuosity Syndrome:(show all 71)
UMLS symptoms related to Arterial Tortuosity Syndrome:joint laxity
MalaCards organs/tissues related to Arterial Tortuosity Syndrome:33
Skin, Heart, Eye, Bone, Lung, Colon, Endothelial
MGI Mouse Phenotypes related to Arterial Tortuosity Syndrome:38
Articles related to Arterial Tortuosity Syndrome:(show all 49)
UniProtKB/Swiss-Prot genetic disease variations for Arterial Tortuosity Syndrome:67
Clinvar genetic disease variations for Arterial Tortuosity Syndrome:5 (show all 20)
Search GEO for disease gene expression data for Arterial Tortuosity Syndrome.
Pathways related to Arterial Tortuosity Syndrome according to GeneCards Suite gene sharing:
Cellular components related to Arterial Tortuosity Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Arterial Tortuosity Syndrome according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet