ATS
MCID: ART001
MIFTS: 50

Arterial Tortuosity Syndrome (ATS) malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Arterial Tortuosity Syndrome

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Aliases & Descriptions for Arterial Tortuosity Syndrome:

Name: Arterial Tortuosity Syndrome 52 11 23 48 24 25 54 70 12 13 68
Ats 48 24 25 54 70
 
Arterial Tortuosity 48 25 70 27

Characteristics:

Orphanet epidemiological data:

54
arterial tortuosity syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

64
arterial tortuosity syndrome:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset

Classifications:



External Ids:

OMIM52 208050
Disease Ontology11 DOID:0050645
Orphanet54 ORPHA3342
ICD10 via Orphanet31 I77.1
MedGen37 C1859726

Summaries for Arterial Tortuosity Syndrome

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NIH Rare Diseases:48 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) sunken chest (pectus excavatum) or protruding chest (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 and is inherited in an autosomal recessive fashion. aneurysms and focal stenoses are corrected with surgery. many specialists may be needed for the best management of the disorder. last updated: 2/21/2017

MalaCards based summary: Arterial Tortuosity Syndrome, also known as ATS, is related to retinal arteries, tortuosity of and cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk, and has symptoms including joint laxity, joint laxity and inguinal hernia. An important gene associated with Arterial Tortuosity Syndrome is SLC2A10 (Solute Carrier Family 2 Member 10), and among its related pathways are Elastic fibre formation and miRNA targets in ECM and membrane receptors. Affiliated tissues include skin, heart and eye, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and integument.

UniProtKB/Swiss-Prot:70 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.

Genetics Home Reference:25 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.

Disease Ontology:11 A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta.

Wikipedia:71 Arterial tortuosity syndrome is a rare congenital connective tissue condition disorder characterized by... more...

Description from OMIM:52 208050

GeneReviews for NBK253404

Related Diseases for Arterial Tortuosity Syndrome

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Diseases related to Arterial Tortuosity Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 133)
idRelated DiseaseScoreTop Affiliating Genes
1retinal arteries, tortuosity of12.3
2cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk11.8
3pulmonary fungal infections in patients deemed at risk11.8
4poliomyelitis in patients with immunodeficiencies deemed at risk11.8
5loeys-dietz syndrome 411.5
6ataxia-telangiectasia11.5
7atypical teratoid rhabdoid tumor11.3
8thrombophilia due to antithrombin iii deficiency11.3
9nijmegen breakage syndrome11.3
10loeys-dietz syndrome11.2
11ceroid lipofuscinosis, neuronal, 111.2
12loeys-dietz syndrome 511.1
13hereditary antithrombin deficiency11.1
14loeys-dietz syndrome 111.1
15alport syndrome11.0
16andersen syndrome10.9
17neural tube defects10.9
18loeys-dietz syndrome 210.9
19loeys-dietz syndrome 310.9
20ceroid lipofuscinosis, neuronal, 210.8
21alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis10.8
22intermediate coronary syndrome10.8
23leiomyomatosis, esophageal and vulval, with nephropathy10.8
24neuroblastoma10.8
25breast cancer10.8
26li-fraumeni syndrome10.7
27hydrocephalus10.7
28narcolepsy10.7
29lupus erythematosus10.7
30neurofibromatosis10.7
31periventricular leukomalacia10.7
32ceroid lipofuscinosis, neuronal, 510.7
33ceroid lipofuscinosis, neuronal, 610.7
34genu valgum, st helena familial10.7
35andersen syndrome type 110.7
36duchenne muscular dystrophy10.7
37attention deficit-hyperactivity disorder10.7
38lymphoma10.7
39restless legs syndrome10.7
40turner syndrome10.7
41chordoma10.7
42rickets10.7
43diarrhea10.6
44lung cancer10.6
45megalencephaly10.6
46cluster headache10.6
47coccidioidomycosis10.6
48microcephaly10.6
49moyamoya disease10.6
50malaria10.6

Graphical network of the top 20 diseases related to Arterial Tortuosity Syndrome:



Diseases related to arterial tortuosity syndrome

Symptoms & Phenotypes for Arterial Tortuosity Syndrome

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Symptoms by clinical synopsis from OMIM:

208050

Clinical features from OMIM:

208050

Human phenotypes related to Arterial Tortuosity Syndrome:

 64 (show all 33)
id Description HPO Frequency HPO Source Accession
1 inguinal hernia64 HP:0000023
2 high palate64 HP:0000218
3 long face64 HP:0000276
4 hypertelorism64 HP:0000316
5 long philtrum64 HP:0000343
6 micrognathia64 HP:0000347
7 convex nasal ridge64 HP:0000444
8 downslanted palpebral fissures64 HP:0000494
9 keratoconus64 HP:0000563
10 blepharophimosis64 HP:0000581
11 pectus excavatum64 HP:0000767
12 pectus carinatum64 HP:0000768
13 congenital diaphragmatic hernia64 HP:0000776
14 hypertension64 HP:0000822
15 cutis laxa64 HP:0000973
16 bruising susceptibility64 HP:0000978
17 soft, doughy skin64 HP:0001027
18 arachnodactyly64 HP:0001166
19 intellectual disability64 HP:0001249
20 muscular hypotonia64 HP:0001252
21 flexion contracture64 HP:0001371
22 joint laxity64 HP:0001388
23 umbilical hernia64 HP:0001537
24 aortic valve stenosis64 HP:0001650
25 aortic regurgitation64 HP:0001659
26 ventricular hypertrophy64 HP:0001714
27 abnormal thrombosis64 HP:0001977
28 hiatus hernia64 HP:0002036
29 ischemic stroke64 HP:0002140
30 pulmonary artery stenosis64 HP:0004415
31 generalized arterial tortuosity64 HP:0004955
32 aortic tortuosity64 HP:0006687
33 telangiectases of the cheeks64 HP:0007421

UMLS symptoms related to Arterial Tortuosity Syndrome:


joint laxity

GenomeRNAi Phenotypes related to Arterial Tortuosity Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-1929.3COL5A2, EFEMP2, LTBP4

MGI Mouse Phenotypes related to Arterial Tortuosity Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.2COL5A1, COL5A2, EFEMP2, LTBP4, TGFBR1
2MP:00053858.0COL5A1, COL5A2, EFEMP2, LTBP4, SLC2A10, TGFBR1
3MP:00053887.6COL5A2, EFEMP2, LTBP4, SLC2A10, TGFBR1

Drugs & Therapeutics for Arterial Tortuosity Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Angio-Seal® vs. Exo-Seal® for Closure of Arterial Puncture SitesCompletedNCT01669382Phase 3
2Heart Failure and Related Risk-factors After PreeclampsiaRecruitingNCT02347540

Search NIH Clinical Center for Arterial Tortuosity Syndrome

Genetic Tests for Arterial Tortuosity Syndrome

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Genetic tests related to Arterial Tortuosity Syndrome:

id Genetic test Affiliating Genes
1 Arterial Tortuosity Syndrome27 24 SLC2A10
2 Arterial Tortuosity27

Anatomical Context for Arterial Tortuosity Syndrome

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MalaCards organs/tissues related to Arterial Tortuosity Syndrome:

36
Skin, Heart, Eye

Publications for Arterial Tortuosity Syndrome

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Articles related to Arterial Tortuosity Syndrome:

(show all 50)
idTitleAuthorsYear
1
Arterial Tortuosity Syndrome reveals function of dehydroascorbic acid in collagen and elastin synthesis: Implications for skin care. (26826631)
2016
2
Glucose transporter type 10 - lacking in arterial tortuosity syndrome - facilitates dehydroascorbic acid transport. (27153185)
2016
3
Arterial tortuosity syndrome. (27651409)
2016
4
Clinical utility gene card for: Arterial tortuosity syndrome. (25604859)
2015
5
GLUT10 deficiency leads to oxidative stress and non-canonical I+vI^3 integrin-mediated TGFI^ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts. (26376865)
2015
6
Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review. (25373504)
2014
7
Arterial Tortuosity Syndrome: An Approach through Imaging Perspective. (25250193)
2014
8
Epilepsy as the first presentation of arterial tortuosity syndrome in a young girl: a case report. (24848186)
2014
9
Arterial tortuosity syndrome: early diagnosis and association with venous tortuosity. (23410549)
2013
10
Low-dose CT angiography for evaluation of great vessels and airway in arterial tortuosity syndrome. (22790089)
2012
11
Arterial tortuosity syndrome: case report. (23431747)
2012
12
Giant aortic aneurysm in an infant with arterial tortuosity syndrome. (22818336)
2012
13
Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene. (22488877)
2012
14
Arterial anomalies in arterial tortuosity syndrome: a sour-sweet pathology? (22436127)
2012
15
Cardiovascular findings in a boy with arterial tortuosity syndrome: case report and review of the literature. (21534351)
2011
16
Keratoglobus and deep stromal corneal opacification in a case of arterial tortuosity syndrome. (21484644)
2011
17
Arterial tortuosity syndrome with multiple intracranial aneurysms: a case report. (21403023)
2011
18
Early outcomes of total pulmonary arterial reconstruction in patients with arterial tortuosity syndrome. (21704298)
2011
19
Repair of ascending aortic aneurysm in a patient with arterial tortuosity syndrome. (21441255)
2011
20
Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome. (20639396)
2010
21
Glucose transporter 10 and arterial tortuosity syndrome: the vitamin C connection. (20547159)
2010
22
Successful surgical pulmonary artery reconstruction in arterial tortuosity syndrome. (19766840)
2009
23
Hybrid transcatheter--surgical approach in complex pulmonary artery stenosis due to arterial tortuosity syndrome. (19708231)
2009
24
Arterial tortuosity syndrome. (19294457)
2009
25
A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin. (18818946)
2009
26
Successful outcome in pregnancy with arterial tortuosity syndrome. (19622975)
2009
27
A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome. (18774132)
2009
28
Congenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the SLC2A10 gene. (19508422)
2009
29
Arterial tortuosity syndrome in two Italian paediatric patients. (19781076)
2009
30
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. (17935213)
2008
31
Hybrid approach in a case of arterial tortuosity syndrome. (18467428)
2008
32
Prenatal diagnosis of arterial tortuosity syndrome. (18792060)
2008
33
Arterial tortuosity syndrome: A rare entity. (20300242)
2008
34
Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. (18565096)
2008
35
Images in cardiovascular medicine. Arterial tortuosity syndrome: phenotypic features and cardiovascular manifestations. (18541745)
2008
36
Hybrid transcatheter-surgical strategy in arterial tortuosity syndrome. (19049778)
2008
37
Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome. (17163528)
2007
38
Valve-sparing aortic root replacement in a patient with a rare connective tissue disorder: arterial tortuosity syndrome. (17198824)
2007
39
Familial arterial tortuosity syndrome. (19122253)
2007
40
Ischemic stroke in an adolescent with arterial tortuosity syndrome. (17485657)
2007
41
Images in cardiology. Arterial tortuosity syndrome in a newborn. (16365344)
2006
42
Ischemic stroke in an adolescent with arterial tortuosity syndrome. (16864843)
2006
43
Cardiovascular findings in arterial tortuosity syndrome. (16554311)
2006
44
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. (16550171)
2006
45
A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13. (15679832)
2005
46
Exclusion of candidate genes in a family with arterial tortuosity syndrome. (15054833)
2004
47
Three new families with arterial tortuosity syndrome. (15529317)
2004
48
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13. (14569121)
2003
49
Arterial tortuosity syndrome. (10748415)
2000
50
Arterial Tortuosity Syndrome (25392904)
1993

Variations for Arterial Tortuosity Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Arterial Tortuosity Syndrome:

70
id Symbol AA change Variation ID SNP ID
1SLC2A10p.Ser81ArgVAR_029535rs80358230
2SLC2A10p.Arg132TrpVAR_042417rs121908173
3SLC2A10p.Gly142ValVAR_042418rs864309480
4SLC2A10p.Arg231GlnVAR_042420rs771028960
5SLC2A10p.Gly246GluVAR_042421rs564317065
6SLC2A10p.Gly426TrpVAR_042422rs121908172
7SLC2A10p.Glu437LysVAR_042423rs763220502
8SLC2A10p.Gly445GluVAR_042424rs753723351

Clinvar genetic disease variations for Arterial Tortuosity Syndrome:

5 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1SLC2A10NM_ 030777.3(SLC2A10): c.417T> A (p.Tyr139Ter)SNVPathogenicrs572620317GRCh37Chr 20, 45354092: 45354092
2SLC2A10NM_ 030777.3(SLC2A10): c.685C> T (p.Arg229Ter)SNVPathogenicrs756457861GRCh37Chr 20, 45354360: 45354360
3SLC2A10NM_ 030777.3(SLC2A10): c.692G> A (p.Arg231Gln)SNVPathogenic/ Likely pathogenicrs771028960GRCh37Chr 20, 45354367: 45354367
4SLC2A10NM_ 030777.3(SLC2A10): c.756C> A (p.Cys252Ter)SNVPathogenicrs864309478GRCh37Chr 20, 45354431: 45354431
5SLC2A10NM_ 030777.3(SLC2A10): c.1411+480_ 1547+299del (p.Gly471_ Arg515delXfs)deletionPathogenicGRCh38Chr 20, 46727466: 46729787
6SLC2A10NM_ 030777.3(SLC2A10): c.1309G> A (p.Glu437Lys)SNVPathogenicrs763220502GRCh38Chr 20, 46726884: 46726884
7SLC2A10NM_ 030777.3(SLC2A10): c.1330C> T (p.Arg444Ter)SNVPathogenicrs370547023GRCh38Chr 20, 46726905: 46726905
8SLC2A10NM_ 030777.3(SLC2A10): c.1334G> A (p.Gly445Glu)SNVPathogenicrs753723351GRCh38Chr 20, 46726909: 46726909
9SLC2A10NM_ 030777.3(SLC2A10): c.1411+1G> A (p.Val430_ I470del)SNVPathogenicrs864309479GRCh38Chr 20, 46726987: 46726987
10SLC2A10NM_ 030777.3(SLC2A10): c.425G> T (p.Gly142Val)SNVPathogenicrs864309480GRCh37Chr 20, 45354100: 45354100
11SLC2A10NM_ 030777.3(SLC2A10): c.691C> T (p.Arg231Trp)SNVPathogenicrs146579504GRCh37Chr 20, 45354366: 45354366
12SLC2A10NM_ 030777.3(SLC2A10): c.730_ 733delCTAA (p.Leu244Glnfs)deletionPathogenicrs864309481GRCh37Chr 20, 45354405: 45354408
13SLC2A10NM_ 030777.3(SLC2A10): c.737G> A (p.Gly246Glu)SNVPathogenicrs564317065GRCh37Chr 20, 45354412: 45354412
14SLC2A10NM_ 030777.3(SLC2A10): c.510G> A (p.Trp170Ter)SNVPathogenicrs80358229GRCh37Chr 20, 45354185: 45354185
15SLC2A10NM_ 030777.3(SLC2A10): c.961delG (p.Val321Cysfs)deletionPathogenicrs587776599GRCh37Chr 20, 45354636: 45354636
16SLC2A10NM_ 030777.3(SLC2A10): c.1334delG (p.Gly445Glufs)deletionPathogenicrs587776600GRCh37Chr 20, 45355548: 45355548
17SLC2A10NM_ 030777.3(SLC2A10): c.243C> G (p.Ser81Arg)SNVPathogenicrs80358230GRCh37Chr 20, 45353918: 45353918
18SLC2A10NM_ 030777.3(SLC2A10): c.1276G> T (p.Gly426Trp)SNVPathogenicrs121908172GRCh37Chr 20, 45354951: 45354951
19SLC2A10NM_ 030777.3(SLC2A10): c.394C> T (p.Arg132Trp)SNVPathogenicrs121908173GRCh37Chr 20, 45354069: 45354069

Expression for genes affiliated with Arterial Tortuosity Syndrome

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Search GEO for disease gene expression data for Arterial Tortuosity Syndrome.

Pathways for genes affiliated with Arterial Tortuosity Syndrome

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GO Terms for genes affiliated with Arterial Tortuosity Syndrome

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Cellular components related to Arterial Tortuosity Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:000560410.0COL5A1, EFEMP2
2collagen trimerGO:00055819.8COL5A1, COL5A2
3collagen type V trimerGO:00055889.8COL5A1, COL5A2
4extracellular matrixGO:00310129.3COL5A1, COL5A2, LTBP4
5proteinaceous extracellular matrixGO:00055788.7COL5A1, COL5A2, LTBP4

Biological processes related to Arterial Tortuosity Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen catabolic processGO:00305749.7COL5A1, COL5A2
2eye morphogenesisGO:00485929.7COL5A1, COL5A2
3negative regulation of endodermal cell differentiationGO:19032259.7COL5A1, COL5A2
4skin developmentGO:00435889.6COL5A1, COL5A2
5transforming growth factor beta receptor signaling pathwayGO:00071799.5LTBP4, TGFBR1
6collagen fibril organizationGO:00301999.2COL5A1, COL5A2, TGFBR1

Molecular functions related to Arterial Tortuosity Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1growth factor bindingGO:001983810.1LTBP4, TGFBR1
2integrin bindingGO:000517810.0COL5A1, LTBP4
3transforming growth factor beta bindingGO:00504319.6LTBP4, TGFBR1
4transforming growth factor beta-activated receptor activityGO:00050249.5LTBP4, TGFBR1
5SMAD bindingGO:00463329.5COL5A2, TGFBR1
6extracellular matrix structural constituentGO:00052019.1COL5A1, COL5A2, EFEMP2

Sources for Arterial Tortuosity Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet