ATS
MCID: ART001
MIFTS: 55

Arterial Tortuosity Syndrome (ATS) malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Skin diseases, Fetal diseases categories
Download this MalaCard

Summaries for Arterial Tortuosity Syndrome

About this section


Fully expand this MalaCard
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

Aliases & Classifications for Arterial Tortuosity Syndrome

About this section

Arterial Tortuosity Syndrome, Aliases & Descriptions:

Name: Arterial Tortuosity Syndrome 8 9 19 42 21 46 10 48 62
Arterial Tortuosity 42 20 22 21
 
Ats 42 21 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
arterial tortuosity syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


External Ids:

Disease Ontology8 DOID:0050645
OMIM46 208050
ICD10 via Orphanet26 I73.8

Related Diseases for Arterial Tortuosity Syndrome

About this section

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

Symptoms:

48 (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 75)
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 abnormality of the pulmonary artery typical (50%) HP:0004414
15 macrocephaly occasional (7.5%) HP:0000256
16 long face occasional (7.5%) HP:0000276
17 strabismus occasional (7.5%) HP:0000486
18 myopia occasional (7.5%) HP:0000545
19 blepharophimosis occasional (7.5%) HP:0000581
20 hypertension occasional (7.5%) HP:0000822
21 cutis laxa occasional (7.5%) HP:0000973
22 arachnodactyly occasional (7.5%) HP:0001166
23 muscular hypotonia occasional (7.5%) HP:0001252
24 craniosynostosis occasional (7.5%) HP:0001363
25 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
26 sudden cardiac death occasional (7.5%) HP:0001645
27 coronary artery disease occasional (7.5%) HP:0001677
28 rocker bottom foot occasional (7.5%) HP:0001838
29 pyloric stenosis occasional (7.5%) HP:0002021
30 respiratory insufficiency occasional (7.5%) HP:0002093
31 abnormality of the intestine occasional (7.5%) HP:0002242
32 scoliosis occasional (7.5%) HP:0002650
33 short nose occasional (7.5%) HP:0003196
34 abnormality of the hip bone occasional (7.5%) HP:0003272
35 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
36 prematurely aged appearance occasional (7.5%) HP:0007495
37 cheekbone underdevelopment occasional (7.5%) HP:0010669
38 cognitive impairment occasional (7.5%) HP:0100543
39 decreased corneal thickness occasional (7.5%) HP:0100689
40 keratoconus rare (5%) HP:0000563
41 intellectual disability rare (5%) HP:0001249
42 muscular hypotonia rare (5%) HP:0001252
43 autosomal recessive inheritance HP:0000007
44 inguinal hernia HP:0000023
45 high palate HP:0000218
46 long face HP:0000276
47 hypertelorism HP:0000316
48 long philtrum HP:0000343
49 micrognathia HP:0000347
50 convex nasal ridge HP:0000444
51 downslanted palpebral fissures HP:0000494
52 blepharophimosis HP:0000581
53 pectus excavatum HP:0000767
54 pectus carinatum HP:0000768
55 congenital diaphragmatic hernia HP:0000776
56 hypertension HP:0000822
57 cutis laxa HP:0000973
58 bruising susceptibility HP:0000978
59 soft, doughy skin HP:0001027
60 arachnodactyly HP:0001166
61 flexion contracture HP:0001371
62 joint laxity HP:0001388
63 umbilical hernia HP:0001537
64 aortic valve stenosis HP:0001650
65 aortic regurgitation HP:0001659
66 ventricular hypertrophy HP:0001714
67 abnormal thrombosis HP:0001977
68 hiatus hernia HP:0002036
69 ischemic stroke HP:0002140
70 congenital onset HP:0003577
71 pulmonary artery stenosis HP:0004415
72 pulmonary artery stenosis HP:0004415
73 generalized arterial tortuosity HP:0004955
74 aortic tortuosity HP:0006687
75 telangiectases of the cheeks HP:0007421

Drugs & Therapeutics for Arterial Tortuosity Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Arterial Tortuosity Syndrome

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 Syndrome20 22 SLC2A10

Anatomical Context for Arterial Tortuosity Syndrome

About this section

MalaCards organs/tissues related to Arterial Tortuosity Syndrome:

32
Skin, Bone, Heart, Colon, Lung

Animal Models for Arterial Tortuosity Syndrome or affiliated genes

About this section

Publications for Arterial Tortuosity Syndrome

About this section

Articles related to Arterial Tortuosity Syndrome:

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

Variations for Arterial Tortuosity Syndrome

About this section

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

64
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:

6
id Gene Name Type Significance SNP ID Assembly Location
1SLC2A10NM_030777.3(SLC2A10): c.510G> A (p.Trp170Ter)single nucleotide variantPathogenicrs80358229GRCh37Chr 20, 45354185: 45354185
2SLC2A10NM_030777.3(SLC2A10): c.961delG (p.Val321Cysfs)deletionPathogenicGRCh37Chr 20, 45354636: 45354636
3SLC2A10NM_030777.3(SLC2A10): c.1334delG (p.Gly445Glufs)deletionPathogenicGRCh37Chr 20, 45355548: 45355548
4SLC2A10NM_030777.3(SLC2A10): c.243C> G (p.Ser81Arg)single nucleotide variantPathogenicrs80358230GRCh37Chr 20, 45353918: 45353918
5SLC2A10NM_030777.3(SLC2A10): c.1276G> T (p.Gly426Trp)single nucleotide variantPathogenicrs121908172GRCh37Chr 20, 45354951: 45354951
6SLC2A10NM_030777.3(SLC2A10): c.394C> T (p.Arg132Trp)single nucleotide variantPathogenicrs121908173GRCh37Chr 20, 45354069: 45354069

Expression for genes affiliated with Arterial Tortuosity Syndrome

About this section
Expression patterns in normal tissues for genes affiliated with Arterial Tortuosity Syndrome

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

Pathways for genes affiliated with Arterial Tortuosity Syndrome

About this section

Pathways related to Arterial Tortuosity Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1COL5A3, FN1
2
Show member pathways
9.1FN1, COL5A3
39.1COL5A3, FN1
4
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
9.1COL5A3, FN1
5
Show member pathways
9.1FN1, COL5A3
69.1COL5A3, FN1

Compounds for genes affiliated with Arterial Tortuosity Syndrome

About this section

GO Terms for genes affiliated with Arterial Tortuosity Syndrome

About this section

Biological processes related to Arterial Tortuosity Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix organizationGO:0301989.1COL5A3, FN1
2extracellular matrix disassemblyGO:0226178.8COL5A3, FN1

Molecular functions related to Arterial Tortuosity Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:0082019.1COL5A3, FN1
2collagen bindingGO:0055188.8COL5A3, FN1

Products for genes affiliated with Arterial Tortuosity Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Arterial Tortuosity Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet