MCID: ART001
MIFTS: 59

Arterial Tortuosity Syndrome malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Skin diseases, Fetal diseases categories

Aliases & Classifications for Arterial Tortuosity Syndrome

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Aliases & Descriptions for Arterial Tortuosity Syndrome:

Name: Arterial Tortuosity Syndrome 49 10 11 21 45 23 12 51 65 67
Arterial Tortuosity 45 22 23 24 67
 
Ats 45 23 51 67
at 22


Classifications:



Characteristics (Orphanet epidemiological data):

51
arterial tortuosity syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

OMIM49 208050
Disease Ontology10 DOID:0050645
Orphanet51 3342
ICD10 via Orphanet28 I73.8
MedGen34 C1859726

Summaries for Arterial Tortuosity Syndrome

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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 arterial tortuosity, is related to aortic disease and aphasia, 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 (Facilitated Glucose Transporter), 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 cardiovascular system.

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 arterial-t

Related Diseases for Arterial Tortuosity Syndrome

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



Diseases related to arterial tortuosity syndrome

Symptoms for Arterial Tortuosity Syndrome

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Symptoms by clinical synopsis from OMIM:

208050

Clinical features from OMIM:

208050

Symptoms:

 51 (show all 46)
  • telangiectasiae of the skin
  • aortic root dilatation/dilation/aneurysm
  • carotid artery anomalies
  • heart/cardiac failure
  • arterial stenosis/occlusion
  • arterial aneurism (excluding aorta)
  • hypertelorism
  • cleft lip and palate
  • long/large ear
  • inguinal/inguinoscrotal/crural hernia
  • anomalies of skin, subcutaneous tissue and mucosae
  • thin skin
  • hyperelastic skin/cutaneous hyperlaxity
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • aortic dissection
  • hyperextensible joints/articular hyperlaxity
  • asthenia/fatigue/weakness
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • craniostenosis/craniosynostosis/sutural synostosis
  • long face
  • flat cheek bones/malar hypoplasia
  • keratoconus/keratoglobus
  • myopia
  • strabismus/squint
  • blepharophimosis/short palpebral fissures
  • short/small nose
  • scoliosis
  • long hand/arachnodactyly
  • clinodactyly of fifth finger
  • pes talus
  • loose skin/skin relaxation/excess skin/creases
  • gastric/pyloric stenosis
  • intestinal/colonic anomaly
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • cardiomyopathy/hypertrophic/dilated
  • myocardium anomalies/myocarditis
  • angor pectoris/myocardial infarction
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • chronic arterial hypertension
  • acute ischemic syndrome
  • hypotonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • early death/lethality
  • premature ageing

HPO human phenotypes related to Arterial Tortuosity Syndrome:

(show all 73)
id Description Frequency HPO Source Accession
1 congestive heart failure hallmark (90%) HP:0001635
2 aneurysm hallmark (90%) HP:0002617
3 dilatation of the ascending aorta hallmark (90%) HP:0005111
4 abnormality of the carotid arteries hallmark (90%) HP:0005344
5 teleangiectasia of the skin hallmark (90%) HP:0100585
6 oral cleft typical (50%) HP:0000202
7 hypertelorism typical (50%) HP:0000316
8 macrotia typical (50%) HP:0000400
9 thin skin typical (50%) HP:0000963
10 hyperextensible skin typical (50%) HP:0000974
11 joint hypermobility typical (50%) HP:0001382
12 aortic dissection typical (50%) HP:0002647
13 hernia of the abdominal wall typical (50%) HP:0004299
14 macrocephaly occasional (7.5%) HP:0000256
15 long face occasional (7.5%) HP:0000276
16 strabismus occasional (7.5%) HP:0000486
17 myopia occasional (7.5%) HP:0000545
18 blepharophimosis occasional (7.5%) HP:0000581
19 hypertension occasional (7.5%) HP:0000822
20 cutis laxa occasional (7.5%) HP:0000973
21 arachnodactyly occasional (7.5%) HP:0001166
22 muscular hypotonia occasional (7.5%) HP:0001252
23 craniosynostosis occasional (7.5%) HP:0001363
24 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
25 sudden cardiac death occasional (7.5%) HP:0001645
26 coronary artery disease occasional (7.5%) HP:0001677
27 rocker bottom foot occasional (7.5%) HP:0001838
28 pyloric stenosis occasional (7.5%) HP:0002021
29 respiratory insufficiency occasional (7.5%) HP:0002093
30 abnormality of the intestine occasional (7.5%) HP:0002242
31 scoliosis occasional (7.5%) HP:0002650
32 short nose occasional (7.5%) HP:0003196
33 abnormality of the hip bone occasional (7.5%) HP:0003272
34 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
35 prematurely aged appearance occasional (7.5%) HP:0007495
36 hypoplasia of the zygomatic bone occasional (7.5%) HP:0010669
37 cognitive impairment occasional (7.5%) HP:0100543
38 decreased corneal thickness occasional (7.5%) HP:0100689
39 keratoconus rare (5%) HP:0000563
40 intellectual disability rare (5%) HP:0001249
41 muscular hypotonia rare (5%) HP:0001252
42 autosomal recessive inheritance HP:0000007
43 inguinal hernia HP:0000023
44 high palate HP:0000218
45 long face HP:0000276
46 hypertelorism HP:0000316
47 long philtrum HP:0000343
48 micrognathia HP:0000347
49 convex nasal ridge HP:0000444
50 downslanted palpebral fissures HP:0000494
51 blepharophimosis HP:0000581
52 pectus excavatum HP:0000767
53 pectus carinatum HP:0000768
54 congenital diaphragmatic hernia HP:0000776
55 hypertension HP:0000822
56 cutis laxa HP:0000973
57 bruising susceptibility HP:0000978
58 soft, doughy skin HP:0001027
59 arachnodactyly HP:0001166
60 flexion contracture HP:0001371
61 joint laxity HP:0001388
62 umbilical hernia HP:0001537
63 aortic valve stenosis HP:0001650
64 aortic regurgitation HP:0001659
65 ventricular hypertrophy HP:0001714
66 abnormal thrombosis HP:0001977
67 hiatus hernia HP:0002036
68 ischemic stroke HP:0002140
69 congenital onset HP:0003577
70 pulmonary artery stenosis HP:0004415
71 generalized arterial tortuosity HP:0004955
72 aortic tortuosity HP:0006687
73 telangiectases of the cheeks HP:0007421

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 Syndrome22 24 SLC2A10

Anatomical Context for Arterial Tortuosity Syndrome

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MalaCards organs/tissues related to Arterial Tortuosity Syndrome:

33
Skin, Heart, Eye, Bone, Colon, Lung

Animal Models for Arterial Tortuosity Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Arterial Tortuosity Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053887.8COL5A2, EFEMP2, ELN, LTBP4, SLC2A10, TGFBR1
2MP:00053857.1COL4A5, COL5A1, EFEMP2, ELN, LTBP4, SLC2A10
3MP:00107686.6COL4A5, COL5A1, COL5A2, EFEMP2, ELN, LTBP4

Publications for Arterial Tortuosity Syndrome

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Articles related to Arterial Tortuosity Syndrome:

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

Variations for Arterial Tortuosity Syndrome

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

67
id Symbol AA change Variation ID SNP ID
1SLC2A10p.Ser81ArgVAR_029535
2SLC2A10p.Arg132TrpVAR_042417
3SLC2A10p.Gly142ValVAR_042418
4SLC2A10p.Arg231GlnVAR_042420
5SLC2A10p.Gly246GluVAR_042421
6SLC2A10p.Gly426TrpVAR_042422
7SLC2A10p.Glu437LysVAR_042423
8SLC2A10p.Gly445GluVAR_042424

Clinvar genetic disease variations for Arterial Tortuosity Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SLC2A10NM_030777.3(SLC2A10): c.692G> A (p.Arg231Gln)single nucleotide variantLikely pathogenic, Pathogenicrs771028960GRCh38Chr 20, 46725728: 46725728
2SLC2A10NM_030777.3(SLC2A10): c.510G> A (p.Trp170Ter)single nucleotide variantPathogenicrs80358229GRCh37Chr 20, 45354185: 45354185
3SLC2A10NM_030777.3(SLC2A10): c.961delG (p.Val321Cysfs)deletionPathogenicrs587776599GRCh37Chr 20, 45354636: 45354636
4SLC2A10NM_030777.3(SLC2A10): c.1334delG (p.Gly445Glufs)deletionPathogenicrs587776600GRCh37Chr 20, 45355548: 45355548
5SLC2A10NM_030777.3(SLC2A10): c.243C> G (p.Ser81Arg)single nucleotide variantPathogenicrs80358230GRCh37Chr 20, 45353918: 45353918
6SLC2A10NM_030777.3(SLC2A10): c.1276G> T (p.Gly426Trp)single nucleotide variantPathogenicrs121908172GRCh37Chr 20, 45354951: 45354951
7SLC2A10NM_030777.3(SLC2A10): c.394C> T (p.Arg132Trp)single nucleotide variantPathogenicrs121908173GRCh37Chr 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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Pathways related to Arterial Tortuosity Syndrome according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8COL4A5, TGFBR1
29.6COL4A5, COL6A2
3
Show member pathways
8.9EFEMP2, ELN, LTBP4
48.9COL4A5, COL5A1, COL5A2
5
Show member pathways
8.3COL4A5, COL5A1, COL5A2, COL6A2
68.3COL4A5, COL5A1, COL5A2, COL6A2
7
Show member pathways
8.3COL4A5, COL5A1, COL5A2, COL6A2
87.7COL4A5, COL5A1, COL5A2, COL6A2, ELN
9
Show member pathways
6.8COL4A5, COL5A1, COL5A2, COL6A2, EFEMP2, ELN
10
Show member pathways
6.8COL4A5, COL5A1, COL5A2, COL6A2, EFEMP2, ELN
11
Show member pathways
6.4COL4A5, COL5A1, COL5A2, COL6A2, EFEMP2, ELN
12
Show member pathways
6.4COL4A5, COL5A1, COL5A2, COL6A2, EFEMP2, ELN

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
1extracellular vesicleGO:19035619.8COL6A2, EFEMP2
2collagen type V trimerGO:00055889.7COL5A1, COL5A2
3basement membraneGO:00056048.8COL4A5, COL5A1, EFEMP2
4collagen trimerGO:00055818.4COL4A5, COL5A1, COL5A2, COL6A2
5proteinaceous extracellular matrixGO:00055788.3COL5A1, COL6A2, ELN, LTBP4
6endoplasmic reticulum lumenGO:00057888.2COL4A5, COL5A1, COL5A2, COL6A2
7extracellular matrixGO:00310128.0COL5A1, COL5A2, COL6A2, LTBP4
8extracellular regionGO:00055766.8COL4A5, COL5A1, COL5A2, COL6A2, EFEMP2, ELN

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1eye morphogenesisGO:00485929.7COL5A1, COL5A2
2negative regulation of endodermal cell differentiationGO:19032259.7COL5A1, COL5A2
3skin developmentGO:00435889.3COL5A1, COL5A2
4collagen fibril organizationGO:00301999.0COL5A1, COL5A2, TGFBR1
5collagen catabolic processGO:00305748.2COL4A5, COL5A1, COL5A2, COL6A2
6axon guidanceGO:00074118.0COL4A5, COL5A1, COL5A2, COL6A2
7extracellular matrix disassemblyGO:00226177.8COL4A5, COL5A1, COL5A2, COL6A2, ELN
8extracellular matrix organizationGO:00301986.8COL4A5, COL5A1, COL5A2, COL6A2, EFEMP2, ELN

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:005043110.0LTBP4, TGFBR1
3SMAD bindingGO:00463329.3COL5A2, TGFBR1
4extracellular matrix structural constituentGO:00052017.7COL4A5, COL5A1, COL5A2, EFEMP2, ELN

Sources for Arterial Tortuosity Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet