Arterial Tortuosity Syndrome (ATS) malady
Genetic diseases, Rare diseases, Cardiovascular diseases, Skin diseases, Fetal diseases categories
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8Disease Ontology, 21Genetics Home Reference, 65Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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Genetics Home Reference:21 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.
MalaCards based summary: Arterial Tortuosity Syndrome, also known as arterial tortuosity, is related to ehlers-danlos syndrome and breast cancer, and has symptoms including telangiectasiae of the skin, aortic root dilatation/dilation/aneurysm and carotid artery anomalies. An important gene associated with Arterial Tortuosity Syndrome is SLC2A10 (solute carrier family 2 (facilitated glucose transporter), member 10), and among its related pathways are Phospholipase-C Pathway and Integrin Pathway. Affiliated tissues include skin, bone and heart.
Disease Ontology:8 A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta.
Wikipedia:65 Arterial tortuosity syndrome (ATS) is a rare congenital connective tissue condition disorder... more...
Description from OMIM:46 208050
GeneReviews summary for arterial-t
Arterial Tortuosity Syndrome, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Cardiovascular diseases, Skin diseases
Rare circulatory system diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Characteristics (Orphanet epidemiological data):48
arterial tortuosity syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood
Symptoms by clinical synopsis from OMIM:208050
Clinical features from OMIM:208050
Symptoms:48 (show all 46)
HPO human phenotypes related to Arterial Tortuosity Syndrome:(show all 75)
MalaCards organs/tissues related to Arterial Tortuosity Syndrome:32
Skin, Bone, Heart, Colon, Lung
Articles related to Arterial Tortuosity Syndrome:(show all 45)
UniProtKB/Swiss-Prot genetic disease variations for Arterial Tortuosity Syndrome:64
Clinvar genetic disease variations for Arterial Tortuosity Syndrome:6
Search GEO for disease gene expression data for Arterial Tortuosity Syndrome.
Pathways related to Arterial Tortuosity Syndrome according to GeneCards/GeneDecks:
Biological processes related to Arterial Tortuosity Syndrome according to GeneCards/GeneDecks:
Molecular functions related to Arterial Tortuosity Syndrome according to GeneCards/GeneDecks:
26ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
58SNOMED-CT via Orphanet
63UMLS via Orphanet