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 49 10 11 21 45 22 23 12 51 67 65
Ats 45 22 23 51 67
 
Arterial Tortuosity 45 23 67 24

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
arterial tortuosity syndrome:
Onset and clinical course: congenital onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 208050
Disease Ontology10 DOID:0050645
Orphanet51 3342
ICD10 via Orphanet28 I73.8
MedGen34 C1859726
UMLS65 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 ats, is related to retinal arteries, tortuosity of and retinal arterial tortuosity, and has symptoms including telangiectasia of the skin, abnormality of the carotid arteries 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: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 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 117)
idRelated DiseaseScoreTop Affiliating Genes
1retinal arteries, tortuosity of12.3
2retinal arterial tortuosity12.2
3cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk11.9
4pulmonary fungal infections in patients deemed at risk11.9
5poliomyelitis in patients with immunodeficiencies deemed at risk11.9
6ataxia-telangiectasia11.5
7loeys-dietz syndrome 411.4
8atypical teratoid rhabdoid tumor11.3
9nijmegen breakage syndrome11.3
10thrombophilia due to antithrombin iii deficiency11.3
11ceroid lipofuscinosis, neuronal, 111.3
12hereditary antithrombin deficiency11.1
13andersen syndrome11.0
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
19alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis10.8
20genu valgum, st helena familial10.8
21andersen syndrome type 110.8
22alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome10.8
23lung cancer10.8
24colorectal cancer10.8
25neuroblastoma10.8
26huntington disease10.7
27osteoarthritis10.6
28breast cancer10.6
29loeys-dietz syndrome10.6
30ulcerative colitis10.6
31neural tube defects10.6
32lymphoma10.5
33schizophrenia10.4
34ulnar neuropathy10.4
35prostate cancer10.4
36pulmonary tuberculosis10.4
37hiv-110.3
38acute mountain sickness10.3
39asthma10.3
40pulmonary emphysema10.3
41rheumatoid arthritis10.3
42loeys-dietz syndrome 510.3
43leukemia10.3
44pneumonia10.2
45hepatitis b10.2
46influenza10.2
47tongue squamous cell carcinoma10.2
48retinoblastoma10.2
49malaria10.2
50pre-eclampsia10.2

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

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 Syndrome22 SLC2A10

Anatomical Context for Arterial Tortuosity Syndrome

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MalaCards organs/tissues related to Arterial Tortuosity Syndrome:

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

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:00053888.4COL5A2, EFEMP2, LTBP4, SLC2A10, TGFBR1
2MP:00107718.2COL5A1, 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 49)
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
Clinical utility gene card for: Arterial tortuosity syndrome. (25604859)
2015
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
Epilepsy as the first presentation of arterial tortuosity syndrome in a young girl: a case report. (24848186)
2014
6
Arterial Tortuosity Syndrome: An Approach through Imaging Perspective. (25250193)
2014
7
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
8
Arterial tortuosity syndrome: early diagnosis and association with venous tortuosity. (23410549)
2013
9
Arterial tortuosity syndrome: case report. (23431747)
2012
10
Low-dose CT angiography for evaluation of great vessels and airway in arterial tortuosity syndrome. (22790089)
2012
11
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
12
Arterial anomalies in arterial tortuosity syndrome: a sour-sweet pathology? (22436127)
2012
13
Giant aortic aneurysm in an infant with arterial tortuosity syndrome. (22818336)
2012
14
Repair of ascending aortic aneurysm in a patient with arterial tortuosity syndrome. (21441255)
2011
15
Keratoglobus and deep stromal corneal opacification in a case of arterial tortuosity syndrome. (21484644)
2011
16
Arterial tortuosity syndrome with multiple intracranial aneurysms: a case report. (21403023)
2011
17
Cardiovascular findings in a boy with arterial tortuosity syndrome: case report and review of the literature. (21534351)
2011
18
Early outcomes of total pulmonary arterial reconstruction in patients with arterial tortuosity syndrome. (21704298)
2011
19
Glucose transporter 10 and arterial tortuosity syndrome: the vitamin C connection. (20547159)
2010
20
Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome. (20639396)
2010
21
Successful outcome in pregnancy with arterial tortuosity syndrome. (19622975)
2009
22
Congenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the SLC2A10 gene. (19508422)
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 missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome. (18774132)
2009
26
A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin. (18818946)
2009
27
Arterial tortuosity syndrome. (19294457)
2009
28
Arterial tortuosity syndrome in two Italian paediatric patients. (19781076)
2009
29
Arterial tortuosity syndrome: A rare entity. (20300242)
2008
30
Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. (18565096)
2008
31
Hybrid transcatheter-surgical strategy in arterial tortuosity syndrome. (19049778)
2008
32
Images in cardiovascular medicine. Arterial tortuosity syndrome: phenotypic features and cardiovascular manifestations. (18541745)
2008
33
Hybrid approach in a case of arterial tortuosity syndrome. (18467428)
2008
34
Prenatal diagnosis of arterial tortuosity syndrome. (18792060)
2008
35
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. (17935213)
2008
36
Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome. (17163528)
2007
37
Valve-sparing aortic root replacement in a patient with a rare connective tissue disorder: arterial tortuosity syndrome. (17198824)
2007
38
Familial arterial tortuosity syndrome. (19122253)
2007
39
Ischemic stroke in an adolescent with arterial tortuosity syndrome. (17485657)
2007
40
Images in cardiology. Arterial tortuosity syndrome in a newborn. (16365344)
2006
41
Ischemic stroke in an adolescent with arterial tortuosity syndrome. (16864843)
2006
42
Cardiovascular findings in arterial tortuosity syndrome. (16554311)
2006
43
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. (16550171)
2006
44
A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13. (15679832)
2005
45
Exclusion of candidate genes in a family with arterial tortuosity syndrome. (15054833)
2004
46
Three new families with arterial tortuosity syndrome. (15529317)
2004
47
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13. (14569121)
2003
48
Arterial tortuosity syndrome. (10748415)
2000
49
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_042421rs564317065
6SLC2A10p.Gly426TrpVAR_042422
7SLC2A10p.Glu437LysVAR_042423
8SLC2A10p.Gly445GluVAR_042424

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 variantPathogenicrs763220502GRCh38Chr 20, 46726884: 46726884
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 variantPathogenicrs753723351GRCh38Chr 20, 46726909: 46726909
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
19.8COL4A5, TGFBR1
29.6COL4A5, COL6A2
3
Show member pathways
8.7EFEMP2, ELN, LTBP4
4
Show member pathways
8.5COL4A5, COL5A1, COL5A2, COL6A2
5
Show member pathways
8.5COL4A5, COL5A1, COL5A2, COL6A2
67.7COL4A5, 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
1basement membraneGO:00056049.7COL5A1, EFEMP2
2extracellular matrixGO:00310129.5COL5A1, COL6A2
3extracellular regionGO:00055767.6COL5A1, COL5A2, COL6A2, ELN, LTBP4

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

idNameGO IDScoreTop Affiliating Genes
1collagen fibril organizationGO:003019910.1COL5A2, TGFBR1
2collagen catabolic processGO:00305749.4COL5A1, COL5A2
3skin developmentGO:00435889.1COL5A1, COL5A2
4extracellular matrix disassemblyGO:00226177.7COL4A5, COL5A1, COL5A2, COL6A2, 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