MCID: ART001
MIFTS: 53

Arterial Tortuosity Syndrome

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

Aliases & Classifications for Arterial Tortuosity Syndrome

MalaCards integrated aliases for Arterial Tortuosity Syndrome:

Name: Arterial Tortuosity Syndrome 53 12 23 49 24 55 71 36 28 13 14 69
Arterial Tortuosity 53 72 49 24 71 28
Ats 53 49 24 55 71

Characteristics:

Orphanet epidemiological data:

55
arterial tortuosity syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
increased risk of early death


HPO:

31
arterial tortuosity syndrome:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Arterial Tortuosity Syndrome

NIH Rare Diseases : 49 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) Sunken chest (pectus excavatum) or protruding chest (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 and is inherited in an autosomal recessive fashion. Aneurysms and focal stenoses are corrected with surgery. Many specialists may be needed for the best management of the disorder. Last updated: 2/21/2017

MalaCards based summary : Arterial Tortuosity Syndrome, also known as arterial tortuosity, is related to aneurysm and aortic aneurysm, and has symptoms including fatigue, respiratory distress and macrocephaly. An important gene associated with Arterial Tortuosity Syndrome is SLC2A10 (Solute Carrier Family 2 Member 10), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include skin, heart and eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

UniProtKB/Swiss-Prot : 71 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.

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.

Disease Ontology : 12 A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta.

Wikipedia : 72 Arterial tortuosity syndrome is a rare congenital connective tissue condition disorder characterized by... more...

Description from OMIM: 208050
GeneReviews: NBK253404

Related Diseases for Arterial Tortuosity Syndrome

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

(show top 50) (show all 105)
# Related Disease Score Top Affiliating Genes
1 aneurysm 29.0 EFEMP2 ELN TGFBR1
2 aortic aneurysm 28.9 EFEMP2 ELN TGFBR1
3 retinal arteries, tortuosity of 12.4
4 menarche, age at, quantitative trait locus 1 12.0
5 menopause, natural, age at, quantitative trait locus 1 11.9
6 menopause, natural, age at, quantitative trait locus 2 11.9
7 menopause, natural, age at, quantitative trait locus 4 11.9
8 cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk 11.9
9 ear antitragus, tag at base of 11.8
10 teeth present at birth 11.8
11 menarche, age at, quantitative trait locus 2 11.8
12 menarche, age at, quantitative trait locus 3 11.8
13 pulmonary fungal infections in patients deemed at risk 11.8
14 poliomyelitis in patients with immunodeficiencies deemed at risk 11.8
15 loeys-dietz syndrome 4 11.7
16 ataxia-telangiectasia 11.7
17 antithrombin iii deficiency 11.6
18 ceroid lipofuscinosis, neuronal, 1 11.6
19 andersen cardiodysrhythmic periodic paralysis 11.5
20 nijmegen breakage syndrome 11.4
21 loeys-dietz syndrome 11.4
22 alport syndrome, x-linked 11.3
23 loeys-dietz syndrome 5 11.3
24 ceroid lipofuscinosis, neuronal, 5 11.3
25 hereditary antithrombin deficiency 11.2
26 loeys-dietz syndrome 1 11.2
27 leiomyomatosis, diffuse, with alport syndrome 11.1
28 neural tube defects 11.1
29 atypical teratoid rhabdoid tumor 11.1
30 ceroid lipofuscinosis, neuronal, 2 11.0
31 loeys-dietz syndrome 2 11.0
32 loeys-dietz syndrome 3 11.0
33 neuroblastoma 11.0
34 amme complex 10.9
35 ceroid lipofuscinosis, neuronal, 6 10.9
36 parkinson disease 10 10.9
37 intermediate coronary syndrome 10.9
38 hydrocephalus 10.9
39 carpal tunnel syndrome 10.8
40 narcolepsy 10.8
41 cervical cancer 10.8
42 diabetes mellitus, transient neonatal, 1 10.8
43 follicular lymphoma 10.8
44 spondyloepiphyseal dysplasia with congenital joint dislocations 10.8
45 restless legs syndrome 10.8
46 lupus erythematosus 10.8
47 aromatase deficiency 10.8
48 chordoma 10.8
49 periventricular leukomalacia 10.8
50 breast cancer 10.8

Graphical network of the top 20 diseases related to Arterial Tortuosity Syndrome:



Diseases related to Arterial Tortuosity Syndrome

Symptoms & Phenotypes for Arterial Tortuosity Syndrome

Symptoms via clinical synopsis from OMIM:

53
Skeletal:
joint laxity
joint contractures

ChestExternalFeatures:
pectus excavatum
pectus carinatum

AbdomenExternalFeatures:
inguinal hernia
umbilical hernia

SkeletalHands:
arachnodactyly

CardiovascularHeart:
ventricular hypertrophy

NeurologicCentralNervousSystem:
ischemic stroke
mental retardation (some)
hypotonia (less common)

HeadAndNeckMouth:
high-arched palate

AbdomenGastrointestinal:
hiatal hernia
diverticulitis
bowel necrosis due to thrombosis

HeadAndNeckEyes:
hypertelorism
blepharophimosis
downslanting palpebral fissures
keratoconus (less common)

CardiovascularVascular:
hypertension
pulmonary artery stenosis
aortic stenosis
arterial tortuosity (large and medium-sized arteries including aorta)
elongated arteries (large and medium-sized arteries including aorta)
more
HeadAndNeckFace:
long philtrum
micrognathia
long face

SkeletalFeet:
arachnodactyly

SkinNailsHairSkin:
soft, doughy skin
hyperextensibility of the skin
no increased bruisability

HeadAndNeckNose:
beaked nose

ChestDiaphragm:
hiatal hernia
diaphragmatic hernia
sliding hernia
gastric hernia


Clinical features from OMIM:

208050

Human phenotypes related to Arterial Tortuosity Syndrome:

55 31 (show top 50) (show all 86)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 55 31 frequent (33%) Frequent (79-30%) HP:0012378
2 respiratory distress 55 31 occasional (7.5%) Occasional (29-5%) HP:0002098
3 macrocephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000256
4 malar flattening 55 31 occasional (7.5%) Occasional (29-5%) HP:0000272
5 hypertelorism 55 31 frequent (33%) Frequent (79-30%) HP:0000316
6 hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0000822
7 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
8 muscular hypotonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001252
9 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
10 inguinal hernia 55 31 frequent (33%) Frequent (79-30%) HP:0000023
11 macrotia 55 31 frequent (33%) Frequent (79-30%) HP:0000400
12 global developmental delay 55 31 occasional (7.5%) Occasional (29-5%) HP:0001263
13 hip dysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001385
14 short nose 55 31 occasional (7.5%) Occasional (29-5%) HP:0003196
15 gastroesophageal reflux 55 31 occasional (7.5%) Occasional (29-5%) HP:0002020
16 hypertrophic cardiomyopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001639
17 myocardial infarction 55 31 occasional (7.5%) Occasional (29-5%) HP:0001658
18 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
19 coxa valga 55 31 occasional (7.5%) Occasional (29-5%) HP:0002673
20 joint hyperflexibility 55 31 frequent (33%) Frequent (79-30%) HP:0005692
21 thin skin 55 31 frequent (33%) Frequent (79-30%) HP:0000963
22 congestive heart failure 55 31 hallmark (90%) Very frequent (99-80%) HP:0001635
23 specific learning disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001328
24 myopia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000545
25 aortic dissection 55 31 frequent (33%) Frequent (79-30%) HP:0002647
26 hip dislocation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002827
27 clinodactyly of the 5th finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0004209
28 telangiectasia of the skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0100585
29 arachnodactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001166
30 respiratory failure 55 31 occasional (7.5%) Occasional (29-5%) HP:0002878
31 prematurely aged appearance 55 31 occasional (7.5%) Occasional (29-5%) HP:0007495
32 long face 55 31 frequent (33%) Frequent (79-30%) HP:0000276
33 esophagitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0100633
34 myocarditis 55 31 occasional (7.5%) Occasional (29-5%) HP:0012819
35 blepharophimosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000581
36 redundant skin 55 31 occasional (7.5%) Occasional (29-5%) HP:0001582
37 arterial stenosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0100545
38 pyloric stenosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002021
39 craniosynostosis 55 31 frequent (33%) Frequent (79-30%) HP:0001363
40 pulmonary artery stenosis 55 31 frequent (33%) Frequent (79-30%) HP:0004415
41 coxa vara 55 31 occasional (7.5%) Occasional (29-5%) HP:0002812
42 hyperextensible skin 55 31 frequent (33%) Frequent (79-30%) HP:0000974
43 hiatus hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002036
44 keratoconus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000563
45 dilated cardiomyopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001644
46 median cleft lip and palate 55 31 frequent (33%) Frequent (79-30%) HP:0008501
47 cardiac arrest 55 31 occasional (7.5%) Occasional (29-5%) HP:0001695
48 rocker bottom foot 55 31 occasional (7.5%) Occasional (29-5%) HP:0001838
49 avascular necrosis of the capital femoral epiphysis 55 31 occasional (7.5%) Occasional (29-5%) HP:0005743
50 keratoglobus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001119

GenomeRNAi Phenotypes related to Arterial Tortuosity Syndrome according to GeneCards Suite gene sharing:

25 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.6 COL5A2 EFEMP2 LTBP4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.6 LTBP4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.6 EFEMP2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.6 COL5A2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.6 COL5A2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.6 LTBP4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.6 EFEMP2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.6 EFEMP2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.6 LTBP4
10 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.6 LTBP4
11 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.6 LTBP4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.6 COL5A2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.6 EFEMP2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.6 LTBP4
15 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.6 EFEMP2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.6 COL5A2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.6 COL5A2

MGI Mouse Phenotypes related to Arterial Tortuosity Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.55 COL5A2 EFEMP2 LTBP4 SLC2A10 TGFBR1
2 integument MP:0010771 9.26 COL5A2 EFEMP2 LTBP4 TGFBR1
3 respiratory system MP:0005388 9.02 COL5A2 EFEMP2 LTBP4 SLC2A10 TGFBR1

Drugs & Therapeutics for Arterial Tortuosity Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697

Search NIH Clinical Center for Arterial Tortuosity Syndrome

Genetic Tests for Arterial Tortuosity Syndrome

Genetic tests related to Arterial Tortuosity Syndrome:

# Genetic test Affiliating Genes
1 Arterial Tortuosity Syndrome 28 SLC2A10
2 Arterial Tortuosity 28

Anatomical Context for Arterial Tortuosity Syndrome

MalaCards organs/tissues related to Arterial Tortuosity Syndrome:

38
Skin, Heart, Eye, Bone

Publications for Arterial Tortuosity Syndrome

Articles related to Arterial Tortuosity Syndrome:

(show top 50) (show all 55)
# Title Authors Year
1
Arterial tortuosity syndrome: 40 new families and literature review. ( 29323665 )
2018
2
Severe neonatal hypertension revealing arterial tortuosity syndrome. ( 29389400 )
2018
3
Ascending Aortic Aneurysm in a Case of Arterial Tortuosity Syndrome: A Rare Tortuous Disorder. ( 28825384 )
2017
4
Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series. ( 28726533 )
2017
5
GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts. ( 28829359 )
2017
6
Arterial tortuosity syndrome. ( 27651409 )
2016
7
Arterial Tortuosity Syndrome reveals function of dehydroascorbic acid in collagen and elastin synthesis: Implications for skin care. ( 26826631 )
2016
8
Glucose transporter type 10 - lacking in arterial tortuosity syndrome - facilitates dehydroascorbic acid transport. ( 27153185 )
2016
9
Clinical utility gene card for: Arterial tortuosity syndrome. ( 25604859 )
2015
10
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
11
Arterial Tortuosity Syndrome: An Approach through Imaging Perspective. ( 25250193 )
2014
12
Epilepsy as the first presentation of arterial tortuosity syndrome in a young girl: a case report. ( 24848186 )
2014
13
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
14
Arterial tortuosity syndrome: early diagnosis and association with venous tortuosity. ( 23410549 )
2013
15
Arterial anomalies in arterial tortuosity syndrome: a sour-sweet pathology? ( 22436127 )
2012
16
Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene. ( 22488877 )
2012
17
Arterial tortuosity syndrome: case report. ( 23431747 )
2012
18
Low-dose CT angiography for evaluation of great vessels and airway in arterial tortuosity syndrome. ( 22790089 )
2012
19
Giant aortic aneurysm in an infant with arterial tortuosity syndrome. ( 22818336 )
2012
20
Cardiovascular findings in a boy with arterial tortuosity syndrome: case report and review of the literature. ( 21534351 )
2011
21
Early outcomes of total pulmonary arterial reconstruction in patients with arterial tortuosity syndrome. ( 21704298 )
2011
22
Keratoglobus and deep stromal corneal opacification in a case of arterial tortuosity syndrome. ( 21484644 )
2011
23
Repair of ascending aortic aneurysm in a patient with arterial tortuosity syndrome. ( 21441255 )
2011
24
Arterial tortuosity syndrome with multiple intracranial aneurysms: a case report. ( 21403023 )
2011
25
Glucose transporter 10 and arterial tortuosity syndrome: the vitamin C connection. ( 20547159 )
2010
26
Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome. ( 20639396 )
2010
27
A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome. ( 18774132 )
2009
28
A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin. ( 18818946 )
2009
29
Successful surgical pulmonary artery reconstruction in arterial tortuosity syndrome. ( 19766840 )
2009
30
Arterial tortuosity syndrome. ( 19294457 )
2009
31
Hybrid transcatheter--surgical approach in complex pulmonary artery stenosis due to arterial tortuosity syndrome. ( 19708231 )
2009
32
Successful outcome in pregnancy with arterial tortuosity syndrome. ( 19622975 )
2009
33
Arterial tortuosity syndrome in two Italian paediatric patients. ( 19781076 )
2009
34
Congenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the SLC2A10 gene. ( 19508422 )
2009
35
Arterial tortuosity syndrome: A rare entity. ( 20300242 )
2008
36
Prenatal diagnosis of arterial tortuosity syndrome. ( 18792060 )
2008
37
Hybrid approach in a case of arterial tortuosity syndrome. ( 18467428 )
2008
38
Images in cardiovascular medicine. Arterial tortuosity syndrome: phenotypic features and cardiovascular manifestations. ( 18541745 )
2008
39
Hybrid transcatheter-surgical strategy in arterial tortuosity syndrome. ( 19049778 )
2008
40
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. ( 17935213 )
2008
41
Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. ( 18565096 )
2008
42
Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome. ( 17163528 )
2007
43
Valve-sparing aortic root replacement in a patient with a rare connective tissue disorder: arterial tortuosity syndrome. ( 17198824 )
2007
44
Familial arterial tortuosity syndrome. ( 19122253 )
2007
45
Ischemic stroke in an adolescent with arterial tortuosity syndrome. ( 17485657 )
2007
46
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. ( 16550171 )
2006
47
Ischemic stroke in an adolescent with arterial tortuosity syndrome. ( 16864843 )
2006
48
Cardiovascular findings in arterial tortuosity syndrome. ( 16554311 )
2006
49
Images in cardiology. Arterial tortuosity syndrome in a newborn. ( 16365344 )
2006
50
A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13. ( 15679832 )
2005

Variations for Arterial Tortuosity Syndrome

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

71
# Symbol AA change Variation ID SNP ID
1 SLC2A10 p.Ser81Arg VAR_029535 rs80358230
2 SLC2A10 p.Arg132Trp VAR_042417 rs121908173
3 SLC2A10 p.Gly142Val VAR_042418 rs864309480
4 SLC2A10 p.Arg231Gln VAR_042420 rs771028960
5 SLC2A10 p.Gly246Glu VAR_042421 rs564317065
6 SLC2A10 p.Gly426Trp VAR_042422 rs121908172
7 SLC2A10 p.Glu437Lys VAR_042423 rs763220502
8 SLC2A10 p.Gly445Glu VAR_042424 rs753723351

ClinVar genetic disease variations for Arterial Tortuosity Syndrome:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC2A10 NM_030777.3(SLC2A10): c.1411+480_1547+299del (p.Gly471_Arg515delXfs) deletion Pathogenic GRCh38 Chromosome 20, 46727466: 46729787
2 SLC2A10 NM_030777.3(SLC2A10): c.417T> A (p.Tyr139Ter) single nucleotide variant Pathogenic rs572620317 GRCh38 Chromosome 20, 46725453: 46725453
3 SLC2A10 NM_030777.3(SLC2A10): c.425G> T (p.Gly142Val) single nucleotide variant Pathogenic rs864309480 GRCh38 Chromosome 20, 46725461: 46725461
4 SLC2A10 NM_030777.3(SLC2A10): c.685C> T (p.Arg229Ter) single nucleotide variant Pathogenic rs756457861 GRCh38 Chromosome 20, 46725721: 46725721
5 SLC2A10 NM_030777.3(SLC2A10): c.691C> T (p.Arg231Trp) single nucleotide variant Pathogenic rs146579504 GRCh38 Chromosome 20, 46725727: 46725727
6 SLC2A10 NM_030777.3(SLC2A10): c.692G> A (p.Arg231Gln) single nucleotide variant Pathogenic/Likely pathogenic rs771028960 GRCh38 Chromosome 20, 46725728: 46725728
7 SLC2A10 NM_030777.3(SLC2A10): c.730_733delCTAA (p.Leu244Glnfs) deletion Pathogenic rs864309481 GRCh38 Chromosome 20, 46725766: 46725769
8 SLC2A10 NM_030777.3(SLC2A10): c.737G> A (p.Gly246Glu) single nucleotide variant Pathogenic rs564317065 GRCh38 Chromosome 20, 46725773: 46725773
9 SLC2A10 NM_030777.3(SLC2A10): c.756C> A (p.Cys252Ter) single nucleotide variant Pathogenic rs864309478 GRCh38 Chromosome 20, 46725792: 46725792
10 SLC2A10 NM_030777.3(SLC2A10): c.1309G> A (p.Glu437Lys) single nucleotide variant Pathogenic rs763220502 GRCh38 Chromosome 20, 46726884: 46726884
11 SLC2A10 NM_030777.3(SLC2A10): c.1330C> T (p.Arg444Ter) single nucleotide variant Pathogenic/Likely pathogenic rs370547023 GRCh38 Chromosome 20, 46726905: 46726905
12 SLC2A10 NM_030777.3(SLC2A10): c.1334G> A (p.Gly445Glu) single nucleotide variant Pathogenic rs753723351 GRCh38 Chromosome 20, 46726909: 46726909
13 SLC2A10 NM_030777.3(SLC2A10): c.1411+1G> A (p.Val430_I470del) single nucleotide variant Pathogenic rs864309479 GRCh38 Chromosome 20, 46726987: 46726987
14 SLC2A10 NM_030777.3(SLC2A10): c.510G> A (p.Trp170Ter) single nucleotide variant Pathogenic rs80358229 GRCh37 Chromosome 20, 45354185: 45354185
15 SLC2A10 NM_030777.3(SLC2A10): c.961delG (p.Val321Cysfs) deletion Pathogenic rs587776599 GRCh37 Chromosome 20, 45354636: 45354636
16 SLC2A10 NM_030777.3(SLC2A10): c.1334delG (p.Gly445Glufs) deletion Pathogenic rs587776600 GRCh37 Chromosome 20, 45355548: 45355548
17 SLC2A10 NM_030777.3(SLC2A10): c.243C> G (p.Ser81Arg) single nucleotide variant Pathogenic rs80358230 GRCh37 Chromosome 20, 45353918: 45353918
18 SLC2A10 NM_030777.3(SLC2A10): c.1276G> T (p.Gly426Trp) single nucleotide variant Pathogenic rs121908172 GRCh37 Chromosome 20, 45354951: 45354951
19 SLC2A10 NM_030777.3(SLC2A10): c.394C> T (p.Arg132Trp) single nucleotide variant Pathogenic rs121908173 GRCh37 Chromosome 20, 45354069: 45354069
20 SLC2A10 NM_030777.3(SLC2A10): c.648C> G (p.Tyr216Ter) single nucleotide variant Pathogenic rs1015798796 GRCh37 Chromosome 20, 45354323: 45354323

Expression for Arterial Tortuosity Syndrome

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

Pathways for Arterial Tortuosity Syndrome

GO Terms for Arterial Tortuosity Syndrome

Cellular components related to Arterial Tortuosity Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.13 COL5A2 ELN LTBP4
2 proteinaceous extracellular matrix GO:0005578 8.8 COL5A2 ELN LTBP4

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

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.16 COL5A2 TGFBR1
2 transforming growth factor beta receptor signaling pathway GO:0007179 8.96 LTBP4 TGFBR1
3 collagen fibril organization GO:0030199 8.62 COL5A2 TGFBR1

Molecular functions related to Arterial Tortuosity Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SMAD binding GO:0046332 9.32 COL5A2 TGFBR1
2 growth factor binding GO:0019838 9.26 LTBP4 TGFBR1
3 transforming growth factor beta binding GO:0050431 9.16 LTBP4 TGFBR1
4 transforming growth factor beta-activated receptor activity GO:0005024 8.96 LTBP4 TGFBR1
5 extracellular matrix structural constituent GO:0005201 8.8 COL5A2 EFEMP2 ELN

Sources for Arterial Tortuosity Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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