MCID: ART001
MIFTS: 52

Arterial Tortuosity Syndrome malady

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

Aliases & Classifications for Arterial Tortuosity Syndrome

About this section

Aliases & Descriptions for Arterial Tortuosity Syndrome:

Name: Arterial Tortuosity Syndrome 51 11 23 47 24 25 53 69 12 13 67
Ats 47 24 25 53 69
 
Arterial Tortuosity 47 25 69 26

Characteristics:

Orphanet epidemiological data:

53
arterial tortuosity syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

63
arterial tortuosity syndrome:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset

Classifications:



External Ids:

OMIM51 208050
Disease Ontology11 DOID:0050645
Orphanet53 ORPHA3342
ICD10 via Orphanet30 I77.1
MedGen36 C1859726

Summaries for Arterial Tortuosity Syndrome

About this section
NIH Rare Diseases:47 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 cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk, and has symptoms including congestive heart failure, aneurysm 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 Elastic fibre formation and Protein digestion and absorption. Affiliated tissues include skin, heart and eye, and related mouse phenotypes are cardiovascular system and integument.

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

UniProtKB/Swiss-Prot:69 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.

Wikipedia:70 Arterial tortuosity syndrome (ATS) is a rare congenital connective tissue condition disorder... more...

Description from OMIM:51 208050

GeneReviews for NBK253404

Related Diseases for Arterial Tortuosity Syndrome

About this section

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

(show top 50)    (show all 129)
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
10ceroid lipofuscinosis, neuronal, 111.2
11loeys-dietz syndrome 511.2
12hereditary antithrombin deficiency11.1
13loeys-dietz syndrome 111.1
14alport syndrome11.0
15neural tube defects11.0
16loeys-dietz syndrome 210.9
17loeys-dietz syndrome 310.9
18neuroblastoma10.9
19andersen syndrome10.8
20alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis10.8
21intermediate coronary syndrome10.8
22leiomyomatosis, esophageal and vulval, with nephropathy10.8
23hyperlipidemia type 310.8
24li-fraumeni syndrome10.8
25breast cancer10.8
26lupus erythematosus10.8
27duchenne muscular dystrophy10.7
28attention deficit-hyperactivity disorder10.7
29lymphoma10.7
30chordoma10.7
31ceroid lipofuscinosis, neuronal, 210.7
32ceroid lipofuscinosis, neuronal, 510.7
33ceroid lipofuscinosis, neuronal, 610.7
34genu valgum, st helena familial10.7
35andersen syndrome type 110.7
36narcolepsy10.7
37diarrhea10.7
38megalencephaly10.7
39lung cancer10.7
40coccidioidomycosis10.7
41turner syndrome10.7
42moyamoya disease10.7
43malaria10.7
44adenomatous polyposis coli10.7
45lyme disease10.6
46cataract10.6
47hiv-110.6
48hydrocephalus10.6
49aromatase deficiency10.6
50pedophilia10.6

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



Diseases related to arterial tortuosity syndrome

Symptoms for Arterial Tortuosity Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

208050

Clinical features from OMIM:

208050

Human phenotypes related to Arterial Tortuosity Syndrome:

 63 (show all 64)
id Description HPO Frequency HPO Source Accession
1 congestive heart failure63 hallmark (90%) HP:0001635
2 aneurysm63 hallmark (90%) HP:0002617
3 dilatation of the ascending aorta63 hallmark (90%) HP:0005111
4 abnormality of the carotid arteries63 hallmark (90%) HP:0005344
5 telangiectasia of the skin63 hallmark (90%) HP:0100585
6 oral cleft63 typical (50%) HP:0000202
7 hypertelorism63 typical (50%) HP:0000316
8 macrotia63 typical (50%) HP:0000400
9 thin skin63 typical (50%) HP:0000963
10 hyperextensible skin63 typical (50%) HP:0000974
11 joint hypermobility63 typical (50%) HP:0001382
12 aortic dissection63 typical (50%) HP:0002647
13 hernia of the abdominal wall63 typical (50%) HP:0004299
14 macrocephaly63 occasional (7.5%) HP:0000256
15 long face63 occasional (7.5%) HP:0000276
16 strabismus63 occasional (7.5%) HP:0000486
17 myopia63 occasional (7.5%) HP:0000545
18 blepharophimosis63 occasional (7.5%) HP:0000581
19 hypertension63 occasional (7.5%) HP:0000822
20 cutis laxa63 occasional (7.5%) HP:0000973
21 arachnodactyly63 occasional (7.5%) HP:0001166
22 muscular hypotonia63 occasional (7.5%) HP:0001252
23 craniosynostosis63 occasional (7.5%) HP:0001363
24 hypertrophic cardiomyopathy63 occasional (7.5%) HP:0001639
25 sudden cardiac death63 occasional (7.5%) HP:0001645
26 coronary artery disease63 occasional (7.5%) HP:0001677
27 rocker bottom foot63 occasional (7.5%) HP:0001838
28 pyloric stenosis63 occasional (7.5%) HP:0002021
29 respiratory insufficiency63 occasional (7.5%) HP:0002093
30 abnormality of the intestine63 occasional (7.5%) HP:0002242
31 scoliosis63 occasional (7.5%) HP:0002650
32 short nose63 occasional (7.5%) HP:0003196
33 abnormality of the hip bone63 occasional (7.5%) HP:0003272
34 clinodactyly of the 5th finger63 occasional (7.5%) HP:0004209
35 prematurely aged appearance63 occasional (7.5%) HP:0007495
36 hypoplasia of the zygomatic bone63 occasional (7.5%) HP:0010669
37 cognitive impairment63 occasional (7.5%) HP:0100543
38 decreased corneal thickness63 occasional (7.5%) HP:0100689
39 keratoconus63 rare (5%) HP:0000563
40 intellectual disability63 rare (5%) HP:0001249
41 inguinal hernia63 HP:0000023
42 high palate63 HP:0000218
43 long philtrum63 HP:0000343
44 micrognathia63 HP:0000347
45 convex nasal ridge63 HP:0000444
46 downslanted palpebral fissures63 HP:0000494
47 pectus excavatum63 HP:0000767
48 pectus carinatum63 HP:0000768
49 congenital diaphragmatic hernia63 HP:0000776
50 bruising susceptibility63 HP:0000978
51 soft, doughy skin63 HP:0001027
52 flexion contracture63 HP:0001371
53 joint laxity63 HP:0001388
54 umbilical hernia63 HP:0001537
55 aortic valve stenosis63 HP:0001650
56 aortic regurgitation63 HP:0001659
57 ventricular hypertrophy63 HP:0001714
58 abnormal thrombosis63 HP:0001977
59 hiatus hernia63 HP:0002036
60 ischemic stroke63 HP:0002140
61 pulmonary artery stenosis63 HP:0004415
62 generalized arterial tortuosity63 HP:0004955
63 aortic tortuosity63 HP:0006687
64 telangiectases of the cheeks63 HP:0007421

UMLS symptoms related to Arterial Tortuosity Syndrome:


joint laxity

Drugs & Therapeutics for Arterial Tortuosity Syndrome

About this section

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

About this section

Genetic tests related to Arterial Tortuosity Syndrome:

id Genetic test Affiliating Genes
1 Arterial Tortuosity Syndrome26 24 SLC2A10

Anatomical Context for Arterial Tortuosity Syndrome

About this section

MalaCards organs/tissues related to Arterial Tortuosity Syndrome:

35
Skin, Heart, Eye, Bone

Animal Models for Arterial Tortuosity Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Arterial Tortuosity Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.8COL5A1, EFEMP2, LTBP4, SLC2A10, TGFBR1
2MP:00107718.2COL5A1, COL5A2, EFEMP2, LTBP4, TGFBR1
3MP:00053887.6COL5A2, EFEMP2, LTBP4, SLC2A10, TGFBR1

Publications for Arterial Tortuosity Syndrome

About this section

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
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
5
Clinical utility gene card for: Arterial tortuosity syndrome. (25604859)
2015
6
Epilepsy as the first presentation of arterial tortuosity syndrome in a young girl: a case report. (24848186)
2014
7
Arterial Tortuosity Syndrome: An Approach through Imaging Perspective. (25250193)
2014
8
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
9
Arterial tortuosity syndrome: early diagnosis and association with venous tortuosity. (23410549)
2013
10
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
11
Giant aortic aneurysm in an infant with arterial tortuosity syndrome. (22818336)
2012
12
Arterial tortuosity syndrome: case report. (23431747)
2012
13
Low-dose CT angiography for evaluation of great vessels and airway in arterial tortuosity syndrome. (22790089)
2012
14
Arterial anomalies in arterial tortuosity syndrome: a sour-sweet pathology? (22436127)
2012
15
Repair of ascending aortic aneurysm in a patient with arterial tortuosity syndrome. (21441255)
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
Cardiovascular findings in a boy with arterial tortuosity syndrome: case report and review of the literature. (21534351)
2011
20
Glucose transporter 10 and arterial tortuosity syndrome: the vitamin C connection. (20547159)
2010
21
Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome. (20639396)
2010
22
Successful outcome in pregnancy with arterial tortuosity syndrome. (19622975)
2009
23
Successful surgical pulmonary artery reconstruction in arterial tortuosity syndrome. (19766840)
2009
24
Hybrid transcatheter--surgical approach in complex pulmonary artery stenosis due to arterial tortuosity syndrome. (19708231)
2009
25
A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin. (18818946)
2009
26
Arterial tortuosity syndrome. (19294457)
2009
27
Congenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the SLC2A10 gene. (19508422)
2009
28
A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome. (18774132)
2009
29
Arterial tortuosity syndrome in two Italian paediatric patients. (19781076)
2009
30
Arterial tortuosity syndrome: A rare entity. (20300242)
2008
31
Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. (18565096)
2008
32
Hybrid transcatheter-surgical strategy in arterial tortuosity syndrome. (19049778)
2008
33
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. (17935213)
2008
34
Images in cardiovascular medicine. Arterial tortuosity syndrome: phenotypic features and cardiovascular manifestations. (18541745)
2008
35
Hybrid approach in a case of arterial tortuosity syndrome. (18467428)
2008
36
Prenatal diagnosis of arterial tortuosity syndrome. (18792060)
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
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. (16550171)
2006
44
Cardiovascular findings in arterial tortuosity syndrome. (16554311)
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

About this section

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

69
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 20)
id Gene Variation Type Significance SNP ID Assembly Location
1SLC2A10NM_030777.3(SLC2A10): c.417T> A (p.Tyr139Ter)SNVPathogenicrs572620317GRCh38Chr 20, 46725453: 46725453
2SLC2A10NM_030777.3(SLC2A10): c.685C> T (p.Arg229Ter)SNVPathogenicrs756457861GRCh38Chr 20, 46725721: 46725721
3SLC2A10NM_030777.3(SLC2A10): c.692G> A (p.Arg231Gln)SNVLikely pathogenic, Pathogenicrs771028960GRCh38Chr 20, 46725728: 46725728
4SLC2A10NM_030777.3(SLC2A10): c.756C> A (p.Cys252Ter)SNVPathogenicrs864309478GRCh38Chr 20, 46725792: 46725792
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.313C> T (p.Arg105Cys)SNVLikely pathogenic, Pathogenicrs767864243GRCh38Chr 20, 46725349: 46725349
11SLC2A10NM_030777.3(SLC2A10): c.425G> T (p.Gly142Val)SNVPathogenicrs864309480GRCh38Chr 20, 46725461: 46725461
12SLC2A10NM_030777.3(SLC2A10): c.691C> T (p.Arg231Trp)SNVPathogenicrs146579504GRCh38Chr 20, 46725727: 46725727
13SLC2A10NM_030777.3(SLC2A10): c.730_733delCTAA (p.Leu244Glnfs)deletionPathogenicrs864309481GRCh38Chr 20, 46725766: 46725769
14SLC2A10NM_030777.3(SLC2A10): c.737G> A (p.Gly246Glu)SNVPathogenicrs564317065GRCh38Chr 20, 46725773: 46725773
15SLC2A10NM_030777.3(SLC2A10): c.510G> A (p.Trp170Ter)SNVPathogenicrs80358229GRCh37Chr 20, 45354185: 45354185
16SLC2A10NM_030777.3(SLC2A10): c.961delG (p.Val321Cysfs)deletionPathogenicrs587776599GRCh37Chr 20, 45354636: 45354636
17SLC2A10NM_030777.3(SLC2A10): c.1334delG (p.Gly445Glufs)deletionPathogenicrs587776600GRCh37Chr 20, 45355548: 45355548
18SLC2A10NM_030777.3(SLC2A10): c.243C> G (p.Ser81Arg)SNVPathogenicrs80358230GRCh37Chr 20, 45353918: 45353918
19SLC2A10NM_030777.3(SLC2A10): c.1276G> T (p.Gly426Trp)SNVPathogenicrs121908172GRCh37Chr 20, 45354951: 45354951
20SLC2A10NM_030777.3(SLC2A10): c.394C> T (p.Arg132Trp)SNVPathogenicrs121908173GRCh37Chr 20, 45354069: 45354069

Expression for genes affiliated with Arterial Tortuosity Syndrome

About this section
Search GEO for disease gene expression data for Arterial Tortuosity Syndrome.

Pathways for genes affiliated with Arterial Tortuosity Syndrome

About this section

GO Terms for genes affiliated with Arterial Tortuosity Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:00056049.8COL5A1, EFEMP2
2collagen type V trimerGO:00055889.7COL5A1, COL5A2
3collagen trimerGO:00055819.7COL5A1, COL5A2
4extracellular matrixGO:00310128.6COL5A1, COL5A2, LTBP4
5extracellular regionGO:00055768.1COL5A1, COL5A2, EFEMP2, LTBP4

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

idNameGO IDScoreTop Affiliating Genes
1eye morphogenesisGO:00485929.5COL5A1, COL5A2
2negative regulation of endodermal cell differentiationGO:19032259.5COL5A1, COL5A2
3collagen catabolic processGO:00305749.3COL5A1, COL5A2
4skin developmentGO:00435889.2COL5A1, COL5A2
5skeletal system developmentGO:00015018.8COL5A2, TGFBR1
6collagen fibril organizationGO:00301998.6COL5A1, COL5A2, TGFBR1

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

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta-activated receptor activityGO:000502410.0LTBP4, TGFBR1
2transforming growth factor beta bindingGO:00504319.9LTBP4, TGFBR1
3integrin bindingGO:00051789.5COL5A1, LTBP4
4SMAD bindingGO:00463329.0COL5A2, TGFBR1
5extracellular matrix structural constituentGO:00052018.7COL5A1, COL5A2, EFEMP2

Sources for Arterial Tortuosity Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet