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 57 12 24 53 25 59 75 37 29 13 6 15 73
Arterial Tortuosity 57 76 53 25 75 29 6
Ats 57 53 25 59 75
Tortuosity, Arterial, Syndrome 40

Characteristics:

Orphanet epidemiological data:

59
arterial tortuosity syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
increased risk of early death


HPO:

32
arterial tortuosity syndrome:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Arterial Tortuosity Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Arterial Tortuosity Syndrome, also known as arterial tortuosity, is related to loeys-dietz syndrome and aneurysm. 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 macrocephaly and malar flattening

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

Genetics Home Reference : 25 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 : 75 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 : 76 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 126)
# Related Disease Score Top Affiliating Genes
1 loeys-dietz syndrome 31.0 COL5A2 TGFBR1
2 aneurysm 29.4 ELN SLC2A10 TGFBR1
3 aortic aneurysm 28.5 EFEMP2 ELN SLC2A10 TGFBR1
4 retinal arteries, tortuosity of 12.4
5 menarche, age at, quantitative trait locus 1 12.0
6 menopause, natural, age at, quantitative trait locus 1 11.9
7 menopause, natural, age at, quantitative trait locus 2 11.9
8 menopause, natural, age at, quantitative trait locus 4 11.9
9 cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk 11.9
10 ear antitragus, tag at base of 11.8
11 teeth present at birth 11.8
12 menarche, age at, quantitative trait locus 2 11.8
13 menarche, age at, quantitative trait locus 3 11.8
14 pulmonary fungal infections in patients deemed at risk 11.8
15 poliomyelitis in patients with immunodeficiencies deemed at risk 11.8
16 loeys-dietz syndrome 4 11.7
17 ataxia-telangiectasia 11.7
18 antithrombin iii deficiency 11.6
19 ceroid lipofuscinosis, neuronal, 1 11.6
20 andersen cardiodysrhythmic periodic paralysis 11.4
21 nijmegen breakage syndrome 11.4
22 atypical teratoid rhabdoid tumor 11.4
23 alport syndrome, x-linked 11.3
24 loeys-dietz syndrome 5 11.2
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 ceroid lipofuscinosis, neuronal, 2 11.0
30 parkinson disease 10 11.0
31 loeys-dietz syndrome 2 11.0
32 loeys-dietz syndrome 3 11.0
33 neuroblastoma 11.0
34 ceroid lipofuscinosis, neuronal, 5 10.9
35 amme complex 10.9
36 ceroid lipofuscinosis, neuronal, 6 10.9
37 intermediate coronary syndrome 10.9
38 breast cancer 10.9
39 cervical cancer 10.8
40 herpes zoster 10.8
41 narcolepsy 10.8
42 depression 10.8
43 diabetes mellitus, transient neonatal, 1 10.8
44 lupus erythematosus 10.8
45 follicular lymphoma 10.8
46 carpal tunnel syndrome 10.8
47 spondyloepiphyseal dysplasia with congenital joint dislocations 10.8
48 restless legs syndrome 10.8
49 genu valgum, st. helena familial 10.8
50 pseudoarthrogryposis 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:

57
Head And Neck Eyes:
hypertelorism
blepharophimosis
downslanting palpebral fissures
keratoconus (less common)

Cardiovascular Vascular:
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
Head And Neck Face:
long philtrum
micrognathia
long face

Skeletal Feet:
arachnodactyly

Cardiovascular Heart:
ventricular hypertrophy

Skin Nails Hair Skin:
soft, doughy skin
hyperextensibility of the skin
no increased bruisability

Head And Neck Mouth:
high-arched palate

Abdomen Gastrointestinal:
hiatal hernia
diverticulitis
bowel necrosis due to thrombosis

Chest External Features:
pectus excavatum
pectus carinatum

Abdomen External Features:
inguinal hernia
umbilical hernia

Skeletal Hands:
arachnodactyly

Skeletal:
joint laxity
joint contractures

Neurologic Central Nervous System:
ischemic stroke
mental retardation (some)
hypotonia (less common)

Head And Neck Nose:
beaked nose

Chest Diaphragm:
hiatal hernia
diaphragmatic hernia
sliding hernia
gastric hernia


Clinical features from OMIM:

208050

Human phenotypes related to Arterial Tortuosity Syndrome:

59 32 (show top 50) (show all 86)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
2 malar flattening 59 32 occasional (7.5%) Occasional (29-5%) HP:0000272
3 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
4 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
5 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
6 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
7 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
8 inguinal hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000023
9 macrotia 59 32 frequent (33%) Frequent (79-30%) HP:0000400
10 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
11 hip dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001385
12 short nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0003196
13 gastroesophageal reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0002020
14 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
15 hypertrophic cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001639
16 myocardial infarction 59 32 occasional (7.5%) Occasional (29-5%) HP:0001658
17 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
18 respiratory distress 59 32 occasional (7.5%) Occasional (29-5%) HP:0002098
19 coxa valga 59 32 occasional (7.5%) Occasional (29-5%) HP:0002673
20 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
21 thin skin 59 32 frequent (33%) Frequent (79-30%) HP:0000963
22 congestive heart failure 59 32 hallmark (90%) Very frequent (99-80%) HP:0001635
23 specific learning disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001328
24 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
25 aortic dissection 59 32 frequent (33%) Frequent (79-30%) HP:0002647
26 hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002827
27 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
28 telangiectasia of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0100585
29 arachnodactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001166
30 respiratory failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0002878
31 prematurely aged appearance 59 32 occasional (7.5%) Occasional (29-5%) HP:0007495
32 long face 59 32 frequent (33%) Frequent (79-30%) HP:0000276
33 esophagitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100633
34 myocarditis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012819
35 blepharophimosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000581
36 redundant skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0001582
37 arterial stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100545
38 pyloric stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002021
39 craniosynostosis 59 32 frequent (33%) Frequent (79-30%) HP:0001363
40 pulmonary artery stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0004415
41 coxa vara 59 32 occasional (7.5%) Occasional (29-5%) HP:0002812
42 hyperextensible skin 59 32 frequent (33%) Frequent (79-30%) HP:0000974
43 hiatus hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002036
44 keratoconus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000563
45 dilated cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001644
46 median cleft lip and palate 59 32 frequent (33%) Frequent (79-30%) HP:0008501
47 cardiac arrest 59 32 occasional (7.5%) Occasional (29-5%) HP:0001695
48 rocker bottom foot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001838
49 avascular necrosis of the capital femoral epiphysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0005743
50 keratoglobus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001119

MGI Mouse Phenotypes related to Arterial Tortuosity Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 COL5A2 EFEMP2 LTBP4 SLC2A10 TGFBR1 TNXB
2 integument MP:0010771 9.35 LTBP4 TGFBR1 TNXB COL5A2 EFEMP2
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 29 SLC2A10
2 Arterial Tortuosity 29

Anatomical Context for Arterial Tortuosity Syndrome

MalaCards organs/tissues related to Arterial Tortuosity Syndrome:

41
Skin, Heart, Eye, Bone

Publications for Arterial Tortuosity Syndrome

Articles related to Arterial Tortuosity Syndrome:

(show top 50) (show all 56)
# Title Authors Year
1
Arterial tortuosity syndrome: An extremely rare disease presenting as a mimic of pulmonary sling. ( 29487670 )
2018
2
Severe neonatal hypertension revealing arterial tortuosity syndrome. ( 29389400 )
2018
3
Arterial tortuosity syndrome: 40 new families and literature review. ( 29323665 )
2018
4
Ascending Aortic Aneurysm in a Case of Arterial Tortuosity Syndrome: A Rare Tortuous Disorder. ( 28825384 )
2017
5
Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series. ( 28726533 )
2017
6
GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts. ( 28829359 )
2017
7
Arterial tortuosity syndrome. ( 27651409 )
2016
8
Arterial Tortuosity Syndrome reveals function of dehydroascorbic acid in collagen and elastin synthesis: Implications for skin care. ( 26826631 )
2016
9
Glucose transporter type 10 - lacking in arterial tortuosity syndrome - facilitates dehydroascorbic acid transport. ( 27153185 )
2016
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
Clinical utility gene card for: Arterial tortuosity syndrome. ( 25604859 )
2015
12
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
13
Epilepsy as the first presentation of arterial tortuosity syndrome in a young girl: a case report. ( 24848186 )
2014
14
Arterial Tortuosity Syndrome: An Approach through Imaging Perspective. ( 25250193 )
2014
15
Arterial tortuosity syndrome: early diagnosis and association with venous tortuosity. ( 23410549 )
2013
16
Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G&amp;gt;A mutation in the SLC2A10 gene. ( 22488877 )
2012
17
Arterial anomalies in arterial tortuosity syndrome: a sour-sweet pathology? ( 22436127 )
2012
18
Giant aortic aneurysm in an infant with arterial tortuosity syndrome. ( 22818336 )
2012
19
Low-dose CT angiography for evaluation of great vessels and airway in arterial tortuosity syndrome. ( 22790089 )
2012
20
Arterial tortuosity syndrome: case report. ( 23431747 )
2012
21
Keratoglobus and deep stromal corneal opacification in a case of arterial tortuosity syndrome. ( 21484644 )
2011
22
Early outcomes of total pulmonary arterial reconstruction in patients with arterial tortuosity syndrome. ( 21704298 )
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
Cardiovascular findings in a boy with arterial tortuosity syndrome: case report and review of the literature. ( 21534351 )
2011
26
Glucose transporter 10 and arterial tortuosity syndrome: the vitamin C connection. ( 20547159 )
2010
27
Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome. ( 20639396 )
2010
28
Hybrid transcatheter--surgical approach in complex pulmonary artery stenosis due to arterial tortuosity syndrome. ( 19708231 )
2009
29
Successful surgical pulmonary artery reconstruction in arterial tortuosity syndrome. ( 19766840 )
2009
30
Congenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the SLC2A10 gene. ( 19508422 )
2009
31
Arterial tortuosity syndrome. ( 19294457 )
2009
32
A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome. ( 18774132 )
2009
33
A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin. ( 18818946 )
2009
34
Successful outcome in pregnancy with arterial tortuosity syndrome. ( 19622975 )
2009
35
Arterial tortuosity syndrome in two Italian paediatric patients. ( 19781076 )
2009
36
Hybrid transcatheter-surgical strategy in arterial tortuosity syndrome. ( 19049778 )
2008
37
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. ( 17935213 )
2008
38
Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. ( 18565096 )
2008
39
Arterial tortuosity syndrome: A rare entity. ( 20300242 )
2008
40
Hybrid approach in a case of arterial tortuosity syndrome. ( 18467428 )
2008
41
Prenatal diagnosis of arterial tortuosity syndrome. ( 18792060 )
2008
42
Images in cardiovascular medicine. Arterial tortuosity syndrome: phenotypic features and cardiovascular manifestations. ( 18541745 )
2008
43
Familial arterial tortuosity syndrome. ( 19122253 )
2007
44
Valve-sparing aortic root replacement in a patient with a rare connective tissue disorder: arterial tortuosity syndrome. ( 17198824 )
2007
45
Ischemic stroke in an adolescent with arterial tortuosity syndrome. ( 17485657 )
2007
46
Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome. ( 17163528 )
2007
47
Cardiovascular findings in arterial tortuosity syndrome. ( 16554311 )
2006
48
Ischemic stroke in an adolescent with arterial tortuosity syndrome. ( 16864843 )
2006
49
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. ( 16550171 )
2006
50
Images in cardiology. Arterial tortuosity syndrome in a newborn. ( 16365344 )
2006

Variations for Arterial Tortuosity Syndrome

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

75
# 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 top 50) (show all 253)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC2A10 NM_030777.3(SLC2A10): c.510G> A (p.Trp170Ter) single nucleotide variant Pathogenic rs80358229 GRCh37 Chromosome 20, 45354185: 45354185
2 SLC2A10 NM_030777.3(SLC2A10): c.510G> A (p.Trp170Ter) single nucleotide variant Pathogenic rs80358229 GRCh38 Chromosome 20, 46725546: 46725546
3 SLC2A10 NM_030777.3(SLC2A10): c.961delG (p.Val321Cysfs) deletion Pathogenic rs587776599 GRCh37 Chromosome 20, 45354636: 45354636
4 SLC2A10 NM_030777.3(SLC2A10): c.961delG (p.Val321Cysfs) deletion Pathogenic rs587776599 GRCh38 Chromosome 20, 46725997: 46725997
5 SLC2A10 NM_030777.3(SLC2A10): c.1334delG (p.Gly445Glufs) deletion Pathogenic rs587776600 GRCh37 Chromosome 20, 45355548: 45355548
6 SLC2A10 NM_030777.3(SLC2A10): c.1334delG (p.Gly445Glufs) deletion Pathogenic rs587776600 GRCh38 Chromosome 20, 46726909: 46726909
7 SLC2A10 NM_030777.3(SLC2A10): c.243C> G (p.Ser81Arg) single nucleotide variant Pathogenic rs80358230 GRCh37 Chromosome 20, 45353918: 45353918
8 SLC2A10 NM_030777.3(SLC2A10): c.243C> G (p.Ser81Arg) single nucleotide variant Pathogenic rs80358230 GRCh38 Chromosome 20, 46725279: 46725279
9 SLC2A10 NM_030777.3(SLC2A10): c.1276G> T (p.Gly426Trp) single nucleotide variant Pathogenic rs121908172 GRCh37 Chromosome 20, 45354951: 45354951
10 SLC2A10 NM_030777.3(SLC2A10): c.1276G> T (p.Gly426Trp) single nucleotide variant Pathogenic rs121908172 GRCh38 Chromosome 20, 46726312: 46726312
11 SLC2A10 NM_030777.3(SLC2A10): c.756C> A (p.Cys252Ter) single nucleotide variant Pathogenic rs864309478 GRCh38 Chromosome 20, 46725792: 46725792
12 SLC2A10 NM_030777.3(SLC2A10): c.756C> A (p.Cys252Ter) single nucleotide variant Pathogenic rs864309478 GRCh37 Chromosome 20, 45354431: 45354431
13 SLC2A10 NM_030777.3(SLC2A10): c.313C> T (p.Arg105Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs767864243 GRCh38 Chromosome 20, 46725349: 46725349
14 SLC2A10 NM_030777.3(SLC2A10): c.313C> T (p.Arg105Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs767864243 GRCh37 Chromosome 20, 45353988: 45353988
15 SLC2A10 NM_030777.3(SLC2A10): c.417T> A (p.Tyr139Ter) single nucleotide variant Pathogenic rs572620317 GRCh38 Chromosome 20, 46725453: 46725453
16 SLC2A10 NM_030777.3(SLC2A10): c.417T> A (p.Tyr139Ter) single nucleotide variant Pathogenic rs572620317 GRCh37 Chromosome 20, 45354092: 45354092
17 SLC2A10 NM_030777.3(SLC2A10): c.425G> T (p.Gly142Val) single nucleotide variant Pathogenic rs864309480 GRCh38 Chromosome 20, 46725461: 46725461
18 SLC2A10 NM_030777.3(SLC2A10): c.425G> T (p.Gly142Val) single nucleotide variant Pathogenic rs864309480 GRCh37 Chromosome 20, 45354100: 45354100
19 SLC2A10 NM_030777.3(SLC2A10): c.685C> T (p.Arg229Ter) single nucleotide variant Pathogenic rs756457861 GRCh38 Chromosome 20, 46725721: 46725721
20 SLC2A10 NM_030777.3(SLC2A10): c.685C> T (p.Arg229Ter) single nucleotide variant Pathogenic rs756457861 GRCh37 Chromosome 20, 45354360: 45354360
21 SLC2A10 NM_030777.3(SLC2A10): c.691C> T (p.Arg231Trp) single nucleotide variant Pathogenic rs146579504 GRCh38 Chromosome 20, 46725727: 46725727
22 SLC2A10 NM_030777.3(SLC2A10): c.691C> T (p.Arg231Trp) single nucleotide variant Pathogenic rs146579504 GRCh37 Chromosome 20, 45354366: 45354366
23 SLC2A10 NM_030777.3(SLC2A10): c.692G> A (p.Arg231Gln) single nucleotide variant Pathogenic rs771028960 GRCh38 Chromosome 20, 46725728: 46725728
24 SLC2A10 NM_030777.3(SLC2A10): c.692G> A (p.Arg231Gln) single nucleotide variant Pathogenic rs771028960 GRCh37 Chromosome 20, 45354367: 45354367
25 SLC2A10 NM_030777.3(SLC2A10): c.731_734delTAAC (p.Leu244Glnfs) deletion Pathogenic rs864309481 GRCh38 Chromosome 20, 46725767: 46725770
26 SLC2A10 NM_030777.3(SLC2A10): c.731_734delTAAC (p.Leu244Glnfs) deletion Pathogenic rs864309481 GRCh37 Chromosome 20, 45354406: 45354409
27 SLC2A10 NM_030777.3(SLC2A10): c.737G> A (p.Gly246Glu) single nucleotide variant Pathogenic rs564317065 GRCh38 Chromosome 20, 46725773: 46725773
28 SLC2A10 NM_030777.3(SLC2A10): c.737G> A (p.Gly246Glu) single nucleotide variant Pathogenic rs564317065 GRCh37 Chromosome 20, 45354412: 45354412
29 SLC2A10 NM_030777.3(SLC2A10): c.1309G> A (p.Glu437Lys) single nucleotide variant Pathogenic rs763220502 GRCh38 Chromosome 20, 46726884: 46726884
30 SLC2A10 NM_030777.3(SLC2A10): c.1309G> A (p.Glu437Lys) single nucleotide variant Pathogenic rs763220502 GRCh37 Chromosome 20, 45355523: 45355523
31 SLC2A10 NM_030777.3(SLC2A10): c.1330C> T (p.Arg444Ter) single nucleotide variant Likely pathogenic rs370547023 GRCh38 Chromosome 20, 46726905: 46726905
32 SLC2A10 NM_030777.3(SLC2A10): c.1330C> T (p.Arg444Ter) single nucleotide variant Likely pathogenic rs370547023 GRCh37 Chromosome 20, 45355544: 45355544
33 SLC2A10 NM_030777.3(SLC2A10): c.1334G> A (p.Gly445Glu) single nucleotide variant Pathogenic rs753723351 GRCh38 Chromosome 20, 46726909: 46726909
34 SLC2A10 NM_030777.3(SLC2A10): c.1334G> A (p.Gly445Glu) single nucleotide variant Pathogenic rs753723351 GRCh37 Chromosome 20, 45355548: 45355548
35 SLC2A10 NM_030777.3(SLC2A10): c.1411+1G> A (p.Val430_I470del) single nucleotide variant Pathogenic rs864309479 GRCh38 Chromosome 20, 46726987: 46726987
36 SLC2A10 NM_030777.3(SLC2A10): c.1411+1G> A (p.Val430_I470del) single nucleotide variant Pathogenic rs864309479 GRCh37 Chromosome 20, 45355626: 45355626
37 SLC2A10 NM_030777.3(SLC2A10): c.1411+480_1547+299del (p.Gly471_Arg515delXfs) deletion Pathogenic GRCh38 Chromosome 20, 46727466: 46729787
38 SLC2A10 NM_030777.3(SLC2A10): c.515C> T (p.Thr172Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs143301610 GRCh37 Chromosome 20, 45354190: 45354190
39 SLC2A10 NM_030777.3(SLC2A10): c.515C> T (p.Thr172Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs143301610 GRCh38 Chromosome 20, 46725551: 46725551
40 SLC2A10 NM_030777.3(SLC2A10): c.1464C> T (p.Leu488=) single nucleotide variant Conflicting interpretations of pathogenicity rs142639587 GRCh37 Chromosome 20, 45358044: 45358044
41 SLC2A10 NM_030777.3(SLC2A10): c.1464C> T (p.Leu488=) single nucleotide variant Conflicting interpretations of pathogenicity rs142639587 GRCh38 Chromosome 20, 46729405: 46729405
42 SLC2A10 NM_030777.3(SLC2A10): c.317C> G (p.Ala106Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs144095826 GRCh37 Chromosome 20, 45353992: 45353992
43 SLC2A10 NM_030777.3(SLC2A10): c.317C> G (p.Ala106Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs144095826 GRCh38 Chromosome 20, 46725353: 46725353
44 SLC2A10 NM_030777.3(SLC2A10): c.673C> T (p.Arg225Cys) single nucleotide variant Uncertain significance rs199659394 GRCh38 Chromosome 20, 46725709: 46725709
45 SLC2A10 NM_030777.3(SLC2A10): c.673C> T (p.Arg225Cys) single nucleotide variant Uncertain significance rs199659394 GRCh37 Chromosome 20, 45354348: 45354348
46 SLC2A10 NM_030777.3(SLC2A10): c.765C> T (p.Ser255=) single nucleotide variant Conflicting interpretations of pathogenicity rs142106322 GRCh37 Chromosome 20, 45354440: 45354440
47 SLC2A10 NM_030777.3(SLC2A10): c.765C> T (p.Ser255=) single nucleotide variant Conflicting interpretations of pathogenicity rs142106322 GRCh38 Chromosome 20, 46725801: 46725801
48 SLC2A10 NM_030777.3(SLC2A10): c.780C> T (p.Ser260=) single nucleotide variant Benign/Likely benign rs181500247 GRCh37 Chromosome 20, 45354455: 45354455
49 SLC2A10 NM_030777.3(SLC2A10): c.780C> T (p.Ser260=) single nucleotide variant Benign/Likely benign rs181500247 GRCh38 Chromosome 20, 46725816: 46725816
50 SLC2A10 NM_030777.3(SLC2A10): c.878G> A (p.Arg293His) single nucleotide variant Uncertain significance rs770882223 GRCh38 Chromosome 20, 46725914: 46725914

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 region GO:0005576 9.35 COL5A2 EFEMP2 ELN LTBP4 TNXB
2 extracellular matrix GO:0031012 8.92 COL5A2 ELN LTBP4 TNXB

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.33 COL5A2 ELN TNXB
2 transforming growth factor beta receptor signaling pathway GO:0007179 9.26 LTBP4 TGFBR1
3 elastic fiber assembly GO:0048251 8.96 EFEMP2 TNXB
4 collagen fibril organization GO:0030199 8.8 COL5A2 TGFBR1 TNXB

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.37 LTBP4 TNXB
2 SMAD binding GO:0046332 9.32 COL5A2 TGFBR1
3 growth factor binding GO:0019838 9.26 LTBP4 TGFBR1
4 transforming growth factor beta binding GO:0050431 9.16 LTBP4 TGFBR1
5 transforming growth factor beta-activated receptor activity GO:0005024 8.96 LTBP4 TGFBR1
6 extracellular matrix structural constituent GO:0005201 8.8 COL5A2 EFEMP2 ELN

Sources for Arterial Tortuosity Syndrome

3 CDC
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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30 HGMD
31 HMDB
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69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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