ATS
MCID: ART001
MIFTS: 52

Arterial Tortuosity Syndrome (ATS) malady

Cardiovascular, Skin, Fetal categories

Summaries for Arterial Tortuosity Syndrome

Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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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: Arterial Tortuosity Syndrome, also known as arterial tortuosity, is related to nail-patella syndrome and hypermobility syndrome, 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 Non-integrin membrane-ECM interactions and Degradation of collagen. The compounds biotin and dermatan sulfate have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotype integument.

Wikipedia:64 Arterial tortuosity syndrome is a rare congenital connective tissue condition disorder characterized by... more...

Description from OMIM:47 208050

Aliases & Classifications for Arterial Tortuosity Syndrome

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 10DISEASES, 49Orphanet, 61UMLS, 20GeneTests, 22GTR, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Cardiovascular, Skin


Characteristics (Orphanet epidemiological data):

49
arterial tortuosity syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

arterial tortuosity syndrome 8 9 43 21 47 10 49 61
arterial tortuosity 43 20 22 21
ats 43 21 49


External Ids:

Disease Ontology8 DOID:0050645
OMIM47 208050
ICD10 via Orphanet26 I73.8

Related Diseases for Arterial Tortuosity Syndrome

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Arterial Tortuosity Syndrome:



Diseases related to arterial tortuosity syndrome

Clinical Features for Arterial Tortuosity Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

208050

Clinical synopsis from OMIM:

208050

Symptoms:

49 (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

Drugs & Therapeutics for Arterial Tortuosity Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Arterial Tortuosity Syndrome

Drug clinical trials:

Search ClinicalTrials for Arterial Tortuosity Syndrome

Search NIH Clinical Center for Arterial Tortuosity Syndrome

Search CenterWatch for Arterial Tortuosity Syndrome

Genetic Tests for Arterial Tortuosity Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Arterial Tortuosity Syndrome:

id Genetic test Affiliating Genes
1 Arterial Tortuosity Syndrome20 22 SLC2A10

Anatomical Context for Arterial Tortuosity Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Arterial Tortuosity Syndrome:

33
Skin

Animal Models for Arterial Tortuosity Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Arterial Tortuosity Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.6FN1, COL5A2, COL5A3, COL5A1

Publications for Arterial Tortuosity Syndrome

Sources:
51PubMed
See all sources

Articles related to Arterial Tortuosity Syndrome:

(show all 43)
idTitleAuthorsYear
1
Arterial tortuosity syndrome: early diagnosis and association with venous tortuosity. (23410549)
2013
2
Arterial tortuosity syndrome: case report. (23431747)
2012
3
Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene. (22734312)
2012
4
Low-dose CT angiography for evaluation of great vessels and airway in arterial tortuosity syndrome. (22790089)
2012
5
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
6
Arterial anomalies in arterial tortuosity syndrome: a sour-sweet pathology? (22436127)
2012
7
Giant aortic aneurysm in an infant with arterial tortuosity syndrome. (22818336)
2012
8
Repair of ascending aortic aneurysm in a patient with arterial tortuosity syndrome. (21441255)
2011
9
Keratoglobus and deep stromal corneal opacification in a case of arterial tortuosity syndrome. (21484644)
2011
10
Arterial tortuosity syndrome with multiple intracranial aneurysms: a case report. (21403023)
2011
11
Cardiovascular findings in a boy with arterial tortuosity syndrome: case report and review of the literature. (21534351)
2011
12
Early outcomes of total pulmonary arterial reconstruction in patients with arterial tortuosity syndrome. (21704298)
2011
13
Glucose transporter 10 and arterial tortuosity syndrome: the vitamin C connection. (20547159)
2010
14
Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome. (20639396)
2010
15
Successful outcome in pregnancy with arterial tortuosity syndrome. (19622975)
2009
16
Congenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the SLC2A10 gene. (19508422)
2009
17
Successful surgical pulmonary artery reconstruction in arterial tortuosity syndrome. (19766840)
2009
18
Hybrid transcatheter--surgical approach in complex pulmonary artery stenosis due to arterial tortuosity syndrome. (19708231)
2009
19
A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome. (18774132)
2009
20
A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin. (18818946)
2009
21
Arterial tortuosity syndrome. (19294457)
2009
22
Arterial tortuosity syndrome in two Italian paediatric patients. (19781076)
2009
23
Arterial tortuosity syndrome: A rare entity. (20300242)
2008
24
Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. (18565096)
2008
25
Hybrid transcatheter-surgical strategy in arterial tortuosity syndrome. (19049778)
2008
26
Images in cardiovascular medicine. Arterial tortuosity syndrome: phenotypic features and cardiovascular manifestations. (18541745)
2008
27
Hybrid approach in a case of arterial tortuosity syndrome. (18467428)
2008
28
Prenatal diagnosis of arterial tortuosity syndrome. (18792060)
2008
29
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. (17935213)
2008
30
Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome. (17163528)
2007
31
Valve-sparing aortic root replacement in a patient with a rare connective tissue disorder: arterial tortuosity syndrome. (17198824)
2007
32
Familial arterial tortuosity syndrome. (19122253)
2007
33
Ischemic stroke in an adolescent with arterial tortuosity syndrome. (17485657)
2007
34
Images in cardiology. Arterial tortuosity syndrome in a newborn. (16365344)
2006
35
Ischemic stroke in an adolescent with arterial tortuosity syndrome. (16864843)
2006
36
Cardiovascular findings in arterial tortuosity syndrome. (16554311)
2006
37
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. (16550171)
2006
38
A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13. (15679832)
2005
39
Exclusion of candidate genes in a family with arterial tortuosity syndrome. (15054833)
2004
40
Three new families with arterial tortuosity syndrome. (15529317)
2004
41
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13. (14569121)
2003
42
Arterial tortuosity syndrome. (10748415)
2000
43
Arterial tortuosity and dilatation in Larsen syndrome. (3405415)
1988

Genetic Variations for Arterial Tortuosity Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Arterial Tortuosity Syndrome:

63
id Symbol AA change Variation 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

Expression for genes affiliated with Arterial Tortuosity Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 30KEGG, 52QIAGEN, 38NCBI BioSystems Database
See all sources

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

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.4COL5A3, COL5A1
2
Hide members
9.0COL5A2, COL5A3, COL5A1
39.0COL5A2, COL5A3, COL5A1
4
Hide members
9.0COL5A1, COL5A3, COL5A2
5
Hide members
9.0COL5A2, COL5A3, COL5A1
6
Hide members
9.0COL5A2, COL5A3, COL5A1
7
Hide members
9.0COL5A2, COL5A3, COL5A1
8
Hide members
8.6COL5A1, COL5A3, COL5A2, FN1
9
Hide members
8.6COL5A1, COL5A3, COL5A2, FN1
108.6COL5A1, COL5A3, COL5A2, FN1
118.6COL5A1, COL5A3, COL5A2, FN1
12
Hide members
8.6FN1, COL5A2, COL5A3, COL5A1
13
Hide members
8.6COL5A1, COL5A3, COL5A2, FN1
14
Hide members
8.6COL5A1, COL5A3, COL5A2, FN1

Compounds for genes affiliated with Arterial Tortuosity Syndrome

Sources:
45Novoseek, 11DrugBank, 24HMDB
See all sources

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

idCompoundScoreTop Affiliating Genes
1biotin45 11 2411.4FN1, TNXA
2dermatan sulfate459.1FN1, TNXA

GO Terms for genes affiliated with Arterial Tortuosity Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Arterial Tortuosity Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:0056049.2FN1, COL5A1
2extracellular matrixGO:0310129.1FN1, COL5A2, COL5A1
3collagen type VGO:0055889.1COL5A2, COL5A3, COL5A1
4endoplasmic reticulum lumenGO:0057888.9COL5A1, COL5A3, COL5A2
5extracellular regionGO:0055768.6FN1, COL5A2, COL5A3, COL5A1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1eye morphogenesisGO:0485929.6COL5A1, COL5A2
2cell migrationGO:0164779.5FN1, COL5A1
3skin developmentGO:0435889.2COL5A2, COL5A3, COL5A1
4collagen fibril organizationGO:0301999.2COL5A1, COL5A3, COL5A2
5collagen catabolic processGO:0305749.0COL5A2, COL5A3, COL5A1
6extracellular matrix disassemblyGO:0226178.9COL5A1, COL5A3, COL5A2
7axon guidanceGO:0074118.7COL5A2, COL5A3, COL5A1
8extracellular matrix organizationGO:0301988.7FN1, COL5A2, COL5A3, COL5A1

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

idNameGO IDScoreTop Affiliating Genes
1collagen bindingGO:0055189.5FN1, COL5A3
2proteoglycan bindingGO:0433949.3COL5A1, COL5A3
3heparin bindingGO:0082018.7FN1, COL5A3, COL5A1
4extracellular matrix structural constituentGO:0052018.6FN1, COL5A2, COL5A3, COL5A1

Products for genes affiliated with Arterial Tortuosity Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Arterial Tortuosity Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet