About: Arterial tortuosity syndrome

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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, however symptoms vary depending on the person. Because ATS is so rare, not much is known about the disease.

Attributes	Values
rdf:type	Thing Fuchs' dystrophy yago:WikicatAutosomalRecessiveDisorders yago:WikicatMembraneTransportProteinDisorders yago:WikicatMusculoskeletalDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Disease114070360 yago:Disorder114052403 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes umbel-rc:AilmentCondition
rdfs:label	Arterial tortuosity syndrome (en) Sindrom AT (in) Zespół krętości tętnic (pl)
rdfs:comment	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, however symptoms vary depending on the person. Because ATS is so rare, not much is known about the disease. (en) Sindrom AT (bahasa Inggris: Arterial tortuosity syndrome, ATS) merupakan kelainan bawaan yang ditandai dengan tortuosity dan elongasi pada pembuluh nadi utama, termasuk aorta, yang disebabkan karena mutasi genetik SLC2A10 pada kromosom 20q13. ATS kadang disertai gejala klinis lain seperti aneurysms dari pembuluh nadi besar dan stenosis pada pembuluh nadi pulmonari, soft skin, joint laxity. (in) Zespół krętości tętnic (ang. arterial tortuosity syndrome, ATS) – rzadki uwarunkowany genetycznie zespół wad wrodzonych dziedziczony w sposób autosomalny recesywny, spowodowany mutacjami z utratą funkcji w genie w locus 20q13.1 kodującym transporter glukozy GLUT10. Zespół opisany został po raz pierwszy w 1967 roku. (pl)
foaf:name	Arterial tortuosity syndrome (ATS) (en)
name	Arterial tortuosity syndrome (en)
foaf:depiction
dcterms:subject	Rare genetic syndromes Autosomal recessive disorders Syndromes affecting the aorta Syndromes affecting the eye Membrane transport protein disorders Syndromes affecting the cornea
Wikipage page ID	10571666 (xsd:integer)
Wikipage revision ID	1078583473 (xsd:integer)
Link from a Wikipage to another Wikipage	Electrocardiography Endoplasmic reticulum Dehydroascorbic acid Arachnodactyly Inheritance GLUT10 Rare genetic syndromes Chromosome 20 (human) Autosomal recessive disorders Aorta Aortic regurgitation MRI Keratoconus Autosomal CT scan Syndromes affecting the aorta Joint Syndromes affecting the eye Membrane transport protein disorders Blepharophimosis SLC2A10 Artery Syndromes affecting the cornea Aortic aneurysms Recessive Human skin Nuclear membrane Tortuosity Echocardiogram Connective tissue condition
sameAs	Arterial tortuosity syndrome Arterial tortuosity syndrome Arterial tortuosity syndrome Arterial tortuosity syndrome Arterial tortuosity syndrome Arterial tortuosity syndrome
SNOMED CT	458432002 (xsd:integer)
dbp:wikiPageUsesTemplate	dbt:Cite_journal dbt:Infobox_medical_condition_(new) dbt:Medical_citation_needed dbt:Medical_resources dbt:Reflist dbt:Scholia dbt:Medicine dbt:Membrane_transport_protein_disorders
thumbnail	wiki-commons:Special:FilePath/autorecessive.svg?width=300
diagnosis	CT scan, MRI (en)
DiseasesDB	35153 (xsd:integer)
ICD	(en) Q87.82 (en)
OMIM	208050 (xsd:integer)
Orphanet	3342 (xsd:integer)
symptoms	Congenital diaphragmatic hernia (en)

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