ATS
MCID: ART001
MIFTS: 54

Arterial Tortuosity Syndrome (ATS) malady

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

Summaries for Arterial Tortuosity Syndrome

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Sources:
9Disease Ontology, 22Genetics Home Reference, 66Wikipedia, 48OMIM, 34MalaCards
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Genetics Home Reference:22 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 ehlers-danlos syndrome and breast cancer, and has symptoms including respiratory distress/dyspnea/respiratory failure/lung volume reduction, gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia and intestinal/colonic anomaly. 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, lung and colon.

Disease Ontology:9 A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta.

Wikipedia:66 Arterial tortuosity syndrome is a rare congenital connective tissue condition disorder characterized by... more...

Description from OMIM:48 208050

Aliases & Classifications for Arterial Tortuosity Syndrome

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Sources:
9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
arterial tortuosity syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

arterial tortuosity syndrome 9 10 44 22 48 11 50 63
arterial tortuosity 44 21 23 22
ats 44 22 50


External Ids:

Disease Ontology9 DOID:0050645
OMIM48 208050
ICD10 via Orphanet27 I73.8

Related Diseases for Arterial Tortuosity Syndrome

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Arterial Tortuosity Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 3360)
idRelated DiseaseScoreTop Affiliating Genes
1ehlers-danlos syndrome30.0COL5A3, FN1
2breast cancer10.8
3leukemia10.8
4prostatitis10.7
5neuropathy10.7
6hepatitis10.7
7endotheliitis10.6
8schizophrenia10.6
9hypertension10.6
10prostate cancer10.6
11ulnar neuropathy10.6
12neuronitis10.6
13alzheimer's disease10.6
14thyroiditis10.6
15diabetes mellitus10.6
16cervicitis10.6
17cerebritis10.6
18lung cancer10.6
19adenocarcinoma10.6
20arthritis10.6
21colorectal cancer10.6
22pancreatitis10.5
23tuberculosis10.5
24obesity10.5
25myocardial infarction10.5
26rheumatoid arthritis10.5
27myeloid leukemia10.5
28ovarian cancer10.5
29melanoma10.5
30sarcoma10.5
31acute mountain sickness10.5
32hiv-110.5
33asthma10.5
34lymphoblastic leukemia10.5
35retinitis10.4
36hepatocellular carcinoma10.4
37multiple sclerosis10.4
38aneurysm10.4
39neuroblastoma10.4
40insulin resistance10.4
41retinal arterial tortuosity10.4
42esophagitis10.4
43ataxia10.4
44eclampsia10.4
45artery disease10.4
46pneumonia10.4
47influenza10.4
48hepatitis c10.4
49hepatitis b10.4
50acute myeloid leukemia10.4

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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Sources:
48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

208050

Clinical features from OMIM:

208050

Symptoms:

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

Drugs & Therapeutics for Arterial Tortuosity Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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21GeneTests, 23GTR
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Genetic tests related to Arterial Tortuosity Syndrome:

id Genetic test Affiliating Genes
1 Arterial Tortuosity Syndrome21 23 SLC2A10

Anatomical Context for Arterial Tortuosity Syndrome

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34MalaCards
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MalaCards organs/tissues related to Arterial Tortuosity Syndrome:

34
Skin, Lung, Colon, Heart, Bone

Animal Models for Arterial Tortuosity Syndrome or affiliated genes

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Publications for Arterial Tortuosity Syndrome

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Sources:
53PubMed
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Articles related to Arterial Tortuosity Syndrome:

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

Variations for Arterial Tortuosity Syndrome

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Arterial Tortuosity Syndrome:

65
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:

1
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

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2BioGPS, 16Gene Expression Omnibus DataSets
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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

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Sources:
51PathCards, 54QIAGEN, 31KEGG, 39NCBI BioSystems Database, 56Reactome
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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
9.1COL5A3, FN1
39.1FN1, COL5A3
4
Show member pathways
Integrin-mediated cell adhesion39
Focal Adhesion39
9.1COL5A3, FN1
5
Show member pathways
9.1COL5A3, FN1
69.1COL5A3, FN1

Compounds for genes affiliated with Arterial Tortuosity Syndrome

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GO Terms for genes affiliated with Arterial Tortuosity Syndrome

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17Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Arterial Tortuosity Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet