MCID: ART001
MIFTS: 51

Arterial Tortuosity Syndrome malady

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

Aliases & Classifications for Arterial Tortuosity Syndrome

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Aliases & Descriptions for Arterial Tortuosity Syndrome:

Name: Arterial Tortuosity Syndrome 50 11 22 46 23 24 13 52 68 12 66
Ats 46 23 24 52 68
 
Arterial Tortuosity 46 24 68 25

Characteristics:

Orphanet epidemiological data:

52
arterial tortuosity syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

62
arterial tortuosity syndrome:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset


Classifications:



External Ids:

OMIM50 208050
Disease Ontology11 DOID:0050645
Orphanet52 ORPHA3342
ICD10 via Orphanet29 I77.1
MedGen35 C1859726

Summaries for Arterial Tortuosity Syndrome

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NIH Rare Diseases:46 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 Cell adhesion_Plasmin signaling and NCAM1 interactions. Affiliated tissues include skin, heart and eye, and related mouse phenotypes are respiratory 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.

Genetics Home Reference:24 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:68 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:69 Arterial tortuosity syndrome (ATS) is a rare congenital connective tissue condition disorder... more...

Description from OMIM:50 208050

GeneReviews summary for NBK253404

Related Diseases for Arterial Tortuosity Syndrome

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

(show top 50)    (show all 62)
idRelated DiseaseScoreTop Affiliating Genes
1retinal arteries, tortuosity of12.3
2cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk11.9
3pulmonary fungal infections in patients deemed at risk11.9
4poliomyelitis in patients with immunodeficiencies deemed at risk11.9
5ataxia-telangiectasia11.5
6loeys-dietz syndrome 411.4
7atypical teratoid rhabdoid tumor11.3
8nijmegen breakage syndrome11.3
9thrombophilia due to antithrombin iii deficiency11.3
10ceroid lipofuscinosis, neuronal, 111.3
11hereditary antithrombin deficiency11.1
12andersen syndrome11.0
13alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis11.0
14intermediate coronary syndrome11.0
15leiomyomatosis, esophageal and vulval, with nephropathy11.0
16ceroid lipofuscinosis, neuronal, 210.8
17ceroid lipofuscinosis, neuronal, 510.8
18ceroid lipofuscinosis, neuronal, 610.8
19genu valgum, st helena familial10.8
20andersen syndrome type 110.8
21lung cancer10.8
22colorectal cancer10.8
23neuroblastoma10.8
24huntington disease10.7
25osteoarthritis10.6
26breast cancer10.6
27ulcerative colitis10.6
28loeys-dietz syndrome10.6
29neural tube defects10.6
30lymphoma10.5
31schizophrenia10.4
32prostate cancer10.4
33pulmonary tuberculosis10.4
34hiv-110.3
35asthma10.3
36pulmonary emphysema10.3
37rheumatoid arthritis10.3
38acute mountain sickness10.3
39leukemia10.3
40loeys-dietz syndrome 510.3
41lupus erythematosus10.3
42hepatitis b10.2
43tongue squamous cell carcinoma10.2
44pneumonia10.2
45influenza10.2
46aneurysm10.1
47aortic aneurysm10.0
48toxic myocarditis9.9COL5A1, COL5A2
49equatorial staphyloma9.9COL5A1, COL5A2
50intracranial aneurysm9.8

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

HPO human phenotypes related to Arterial Tortuosity Syndrome:

(show all 71)
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 telangiectasia 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 inguinal hernia HP:0000023
43 high palate HP:0000218
44 long face HP:0000276
45 hypertelorism HP:0000316
46 long philtrum HP:0000343
47 micrognathia HP:0000347
48 convex nasal ridge HP:0000444
49 downslanted palpebral fissures HP:0000494
50 blepharophimosis HP:0000581
51 pectus excavatum HP:0000767
52 pectus carinatum HP:0000768
53 congenital diaphragmatic hernia HP:0000776
54 hypertension HP:0000822
55 cutis laxa HP:0000973
56 bruising susceptibility HP:0000978
57 soft, doughy skin HP:0001027
58 arachnodactyly HP:0001166
59 flexion contracture HP:0001371
60 joint laxity HP:0001388
61 umbilical hernia HP:0001537
62 aortic valve stenosis HP:0001650
63 aortic regurgitation HP:0001659
64 ventricular hypertrophy HP:0001714
65 abnormal thrombosis HP:0001977
66 hiatus hernia HP:0002036
67 ischemic stroke HP:0002140
68 pulmonary artery stenosis HP:0004415
69 generalized arterial tortuosity HP:0004955
70 aortic tortuosity HP:0006687
71 telangiectases of the cheeks HP:0007421

UMLS symptoms related to Arterial Tortuosity Syndrome:


joint laxity

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 Syndrome25 23 SLC2A10

Anatomical Context for Arterial Tortuosity Syndrome

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MalaCards organs/tissues related to Arterial Tortuosity Syndrome:

34
Skin, Heart, Eye, Bone

Animal Models for Arterial Tortuosity Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Arterial Tortuosity Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.4COL5A2, EFEMP2, LTBP4, SLC2A10, TGFBR1
2MP:00107718.3COL5A1, COL5A2, EFEMP2, LTBP4, TGFBR1
3MP:00053857.9COL4A5, COL5A1, EFEMP2, LTBP4, SLC2A10, TGFBR1

Publications for Arterial Tortuosity Syndrome

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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&gt;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

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

68
id Symbol AA change Variation ID SNP ID
1SLC2A10p.Ser81ArgVAR_029535rs80358230
2SLC2A10p.Arg132TrpVAR_042417rs121908173
3SLC2A10p.Gly142ValVAR_042418
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)single nucleotide variantPathogenicrs572620317GRCh38Chr 20, 46725453: 46725453
2SLC2A10NM_030777.3(SLC2A10): c.685C> T (p.Arg229Ter)single nucleotide variantPathogenicrs756457861GRCh38Chr 20, 46725721: 46725721
3SLC2A10NM_030777.3(SLC2A10): c.692G> A (p.Arg231Gln)single nucleotide variantLikely pathogenic, Pathogenicrs771028960GRCh38Chr 20, 46725728: 46725728
4SLC2A10NM_030777.3(SLC2A10): c.756C> A (p.Cys252Ter)single nucleotide variantPathogenicrs864309478GRCh38Chr 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)single nucleotide variantPathogenicrs763220502GRCh37Chr 20, 45355523: 45355523
7SLC2A10NM_030777.3(SLC2A10): c.1330C> T (p.Arg444Ter)single nucleotide variantPathogenicrs370547023GRCh38Chr 20, 46726905: 46726905
8SLC2A10NM_030777.3(SLC2A10): c.1334G> A (p.Gly445Glu)single nucleotide variantPathogenicrs753723351GRCh37Chr 20, 45355548: 45355548
9SLC2A10NM_030777.3(SLC2A10): c.1411+1G> A (p.Val430_I470del)single nucleotide variantPathogenicrs864309479GRCh38Chr 20, 46726987: 46726987
10SLC2A10NM_030777.3(SLC2A10): c.313C> T (p.Arg105Cys)single nucleotide variantPathogenicrs767864243GRCh38Chr 20, 46725349: 46725349
11SLC2A10NM_030777.3(SLC2A10): c.425G> T (p.Gly142Val)single nucleotide variantPathogenicrs864309480GRCh38Chr 20, 46725461: 46725461
12SLC2A10NM_030777.3(SLC2A10): c.691C> T (p.Arg231Trp)single nucleotide variantPathogenicrs146579504GRCh38Chr 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)single nucleotide variantPathogenicrs564317065GRCh38Chr 20, 46725773: 46725773
15SLC2A10NM_030777.3(SLC2A10): c.510G> A (p.Trp170Ter)single nucleotide variantPathogenicrs80358229GRCh37Chr 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)single nucleotide variantPathogenicrs80358230GRCh37Chr 20, 45353918: 45353918
19SLC2A10NM_030777.3(SLC2A10): c.1276G> T (p.Gly426Trp)single nucleotide variantPathogenicrs121908172GRCh37Chr 20, 45354951: 45354951
20SLC2A10NM_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:

idSuper pathwaysScoreTop Affiliating Genes
19.7COL4A5, TGFBR1
29.6COL4A5, COL6A2
3
Show member pathways
8.8EFEMP2, ELN, LTBP4
4
Show member pathways
8.5COL4A5, COL5A1, COL5A2, COL6A2
5
Show member pathways
8.5COL4A5, COL5A1, COL5A2, COL6A2
67.6COL4A5, COL5A1, COL5A2, COL6A2, ELN
7
Show member pathways
6.8COL4A5, COL5A1, COL5A2, COL6A2, EFEMP2, ELN
8
Show member pathways
6.8COL4A5, COL5A1, COL5A2, COL6A2, EFEMP2, ELN
9
Show member pathways
6.4COL4A5, COL5A1, COL5A2, COL6A2, EFEMP2, ELN
10
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
1collagen type V trimerGO:00055889.9COL5A1, COL5A2
2extracellular vesicleGO:19035619.8COL6A2, EFEMP2
3basement membraneGO:00056049.6COL4A5, COL5A1, EFEMP2
4collagen trimerGO:00055819.3COL5A1, COL5A2, COL6A2
5extracellular matrixGO:00310128.6COL5A1, COL5A2, COL6A2, LTBP4
6endoplasmic reticulum lumenGO:00057888.5COL4A5, COL5A1, COL5A2, COL6A2
7proteinaceous extracellular matrixGO:00055788.3COL5A1, COL6A2, ELN, LTBP4
8extracellular regionGO:00055766.8COL4A5, COL5A1, COL5A2, COL6A2, EFEMP2, ELN

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

idNameGO IDScoreTop Affiliating Genes
1eye morphogenesisGO:00485929.7COL5A1, COL5A2
2negative regulation of endodermal cell differentiationGO:19032259.7COL5A1, COL5A2
3skin developmentGO:00435889.5COL5A1, COL5A2
4collagen catabolic processGO:00305748.7COL4A5, COL5A1, COL5A2, COL6A2
5collagen fibril organizationGO:00301998.6COL5A1, COL5A2, TGFBR1
6extracellular matrix organizationGO:00301987.6COL4A5, COL5A1, COL5A2, COL6A2, 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:000502410.1LTBP4, TGFBR1
2transforming growth factor beta bindingGO:005043110.1LTBP4, TGFBR1
3SMAD bindingGO:00463329.5COL5A2, TGFBR1
4extracellular matrix structural constituentGO:00052017.7COL4A5, COL5A1, COL5A2, EFEMP2, ELN

Sources for Arterial Tortuosity Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet