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ATORS
MCID: ART001
MIFTS: 63

Arterial Tortuosity Syndrome (ATORS)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Arterial Tortuosity Syndrome

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MalaCards integrated aliases for Arterial Tortuosity Syndrome:

Name: Arterial Tortuosity Syndrome 57 11 24 19 42 58 73 28 12 5 43 14 71 75
Arterial Tortuosity 57 19 42 75 73 28 5
Ats 57 19 42 58
Ators 57 73
Tortuosity, Arterial, Syndrome 38

Characteristics:


Inheritance:

Autosomal recessive 58 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Childhood,Infancy 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset at birth
increased risk of early death


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare circulatory system diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Arterial Tortuosity Syndrome

About this section

MedlinePlus Genetics: 42 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.As its name suggests, arterial tortuosity syndrome 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). Tortuosity arises from abnormal elongation of the arteries; since the end points of the arteries are fixed, the extra length twists and curves. 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).Complications resulting from the abnormal arteries can be life-threatening. Rupture of an aneurysm or sudden tearing (dissection) of the layers in an arterial wall can result in massive loss of blood from the circulatory system. Blockage of blood flow to vital organs such as the heart, lungs, or brain can lead to heart attacks, respiratory problems, and strokes. Stenosis of the arteries forces the heart to work harder to pump blood and may lead to heart failure. As a result of these complications, arterial tortuosity syndrome is often fatal in childhood, although some individuals with mild cases of the disorder live into adulthood.Features of arterial tortuosity syndrome outside the circulatory system are caused by abnormal connective tissue in other parts of the body. These features include joints that are either loose and very flexible (hypermobile) or that have deformities limiting movement (contractures), and unusually soft and stretchable skin. Some affected individuals have long, slender fingers and toes (arachnodactyly); curvature of the spine (scoliosis); or a chest that is either sunken (pectus excavatum) or protruding (pectus carinatum). They may have 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 including a long, narrow face with droopy cheeks; eye openings that are narrowed (blepharophimosis) with outside corners that point downward (downslanting palpebral fissures); a beaked nose with soft cartilage; a high, arched roof of the mouth (palate); a small lower jaw (micrognathia); and large ears. The cornea, which is the clear front covering of the eye, may be cone-shaped and abnormally thin (keratoconus).

MalaCards based summary: Arterial Tortuosity Syndrome, also known as arterial tortuosity, is related to loeys-dietz syndrome 5 and cutis laxa. An important gene associated with Arterial Tortuosity Syndrome is SLC2A10 (Solute Carrier Family 2 Member 10), and among its related pathways/superpathways are Signal Transduction and ERK Signaling. Affiliated tissues include skin, heart and eye, and related phenotypes are congestive heart failure and telangiectasia of the skin

GARD: 19 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 in the SLC2A10 gene and is inherited in an autosomal recessive fashion.

OMIM®: 57 Arterial tortuosity syndrome is a rare connective tissue disorder characterized by generalized tortuosity, elongation, stenosis, and aneurysms of the major arteries. Skin and joint abnormalities, including hyperextensibility or hyperlaxity of the skin, joint laxity or contractures, and inguinal hernias, may also be observed. Other abnormalities include micrognathia, elongated face, high palate, beaked nose, sliding hernia, and ventricular hypertrophy (summary by Coucke et al., 2006). (208050) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 A rare autosomal recessive connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

Disease Ontology: 11 A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta.

Wikipedia: 75 Arterial tortuosity syndrome is a rare congenital connective tissue condition disorder characterized by... more...

GeneReviews: NBK253404
Sources

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 324)
# Related Disease Score Top Affiliating Genes
1 loeys-dietz syndrome 5 31.9 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
2 cutis laxa 31.8 SLC2A10 LTBP4 FBN1 FBLN5 ELN EFEMP2
3 loeys-dietz syndrome 4 31.8 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYH11
4 loeys-dietz syndrome 2 31.5 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
5 hypermobile ehlers-danlos syndrome 30.9 FBN1 COL3A1
6 loeys-dietz syndrome 3 30.6 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYLK
7 connective tissue disease 30.5 TGFBR2 SMAD3 FBN1 FBLN5 ELN COL3A1
8 diaphragmatic hernia, congenital 30.3 SLC2A10 LTBP4 FBN1 ELN EFEMP2
9 varicose veins 30.2 FBN1 ELN COL3A1
10 interstitial lung disease 2 30.0 TGFBR2 TGFBR1 TGFB2 SMAD3 ELN COL3A1
11 mitral valve insufficiency 29.9 MYH11 FBN1 ELN
12 inguinal hernia 29.9 TGFBR2 TGFBR1 SLC2A10 LTBP4 FBN1 FBLN5
13 contractural arachnodactyly, congenital 29.8 TGFBR2 TGFBR1 SLC2A10 LTBP4 FBN1 ELN
14 loeys-dietz syndrome 1 29.8 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
15 pulmonary hypertension 29.7 TGFBR2 TGFBR1 SMAD3 ELN ACTA2
16 moyamoya disease 1 29.7 SLC2A10 MYLK MYH11 ELN ACTA2
17 cleft palate, isolated 29.7 TGFBR2 TGFBR1 TGFB2 FLNA FBN1
18 scoliosis 29.6 TGFBR2 TGFB2 LTBP4 FBN1 FBLN5 ELN
19 ehlers-danlos syndrome, vascular type 29.6 MYLK MYH11 FBN1 FBLN5 ELN EFEMP2
20 williams-beuren syndrome 29.5 SLC2A10 MYH11 FBN1 FBLN5 ELN EFEMP2
21 marfan syndrome 29.5 TGFBR2 TGFBR1 TGFB2 FBN1 ELN COL3A1
22 aortic aneurysm, familial thoracic 4 29.4 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYH11
23 aortic valve insufficiency 29.3 TGFBR2 TGFBR1 MYH11 FBN1 ELN EFEMP2
24 aortic dissection 29.2 TGFBR1 TGFB2 SMAD3 MYH11 FBN1 FBLN5
25 lipoprotein quantitative trait locus 29.0 TGFBR2 TGFB2 SMAD3 MYH11 FBN1 ELN
26 aortic disease 28.8 TGFBR2 TGFBR1 TGFB2 SMAD3 MYH11 FBN1
27 ehlers-danlos syndrome 28.7 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYLK
28 aortic aneurysm 28.6 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYLK
29 aortic aneurysm, familial thoracic 1 28.4 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYLK
30 aortic valve disease 1 28.2 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYLK
31 patent ductus arteriosus 1 28.2 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYLK
32 loeys-dietz syndrome 28.2 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYLK
33 retinal arteries, tortuosity of 11.7
34 loeys-dietz syndrome 6 11.4
35 fibromuscular dysplasia, multifocal 11.3
36 amme complex 11.3
37 leiomyomatosis, diffuse, with alport syndrome 11.3
38 andersen cardiodysrhythmic periodic paralysis 11.2
39 alport syndrome 1, x-linked 11.0
40 timothy syndrome 11.0
41 atypical timothy syndrome 11.0
42 adenocarcinoma 10.7
43 lung cancer susceptibility 3 10.7
44 pulmonary disease, chronic obstructive 10.5
45 pneumonia 10.4
46 adenocarcinoma in situ 10.4
47 enterocele 10.4
48 lung disease 10.4
49 pulmonary fibrosis 10.4
50 interstitial lung disease 10.3

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



Diseases related to Arterial Tortuosity Syndrome
Sources

Symptoms & Phenotypes for Arterial Tortuosity Syndrome

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Human phenotypes related to Arterial Tortuosity Syndrome:

58 30 (show top 50) (show all 85)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congestive heart failure 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001635
2 telangiectasia of the skin 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0100585
3 arterial stenosis 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0100545
4 aortic root aneurysm 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002616
5 abnormal carotid artery morphology 30 Hallmark (90%) HP:0005344
6 inguinal hernia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000023
7 hypertelorism 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000316
8 macrotia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000400
9 fatigue 58 30 Frequent (33%) Frequent (79-30%)
 HP:0012378
10 aortic dissection 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002647
11 long face 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000276
12 joint hyperflexibility 58 30 Frequent (33%) Frequent (79-30%)
 HP:0005692
13 craniosynostosis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001363
14 hyperextensible skin 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000974
15 pulmonary artery stenosis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0004415
16 median cleft lip and palate 58 30 Frequent (33%) Frequent (79-30%)
 HP:0008501
17 thin skin 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000963
18 femoral hernia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0100541
19 macrocephaly 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000256
20 intellectual disability 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001249
21 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002650
22 hypertension 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000822
23 hypotonia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001252
24 global developmental delay 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001263
25 hip dysplasia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001385
26 short nose 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0003196
27 gastroesophageal reflux 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002020
28 strabismus 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000486
29 specific learning disability 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001328
30 myopia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000545
31 myocardial infarction 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001658
32 hypertrophic cardiomyopathy 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001639
33 dilated cardiomyopathy 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001644
34 arachnodactyly 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001166
35 prematurely aged appearance 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0007495
36 clinodactyly of the 5th finger 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0004209
37 hip dislocation 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002827
38 malar flattening 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000272
39 blepharophimosis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000581
40 redundant skin 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001582
41 myocarditis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0012819
42 pyloric stenosis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002021
43 coxa valga 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002673
44 coxa vara 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002812
45 hiatus hernia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002036
46 keratoconus 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000563
47 respiratory failure 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002878
48 rocker bottom foot 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001838
49 respiratory distress 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002098
50 avascular necrosis of the capital femoral epiphysis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0005743

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 Eyes:
hypertelorism
blepharophimosis
downslanting palpebral fissures
keratoconus (less common)

Head And Neck Face:
micrognathia
long face
long philtrum

Skeletal Hands:
arachnodactyly

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

Cardiovascular Heart:
ventricular hypertrophy

Head And Neck Mouth:
high-arched palate

Abdomen Gastrointestinal:
hiatal hernia
diverticulitis
bowel necrosis due to thrombosis

Abdomen External Features:
inguinal hernia
umbilical hernia

Chest External Features:
pectus carinatum
pectus excavatum

Skeletal:
joint laxity
joint contractures

Skeletal Feet:
arachnodactyly

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 (Updated 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.14 ACTA2 COL3A1 EFEMP2 ELN EMILIN1 FBLN5
2 no effect GR00402-S-2 10.14 ACTA2 COL3A1 EMILIN1 FLNA LTBP4 MYH11

MGI Mouse Phenotypes related to Arterial Tortuosity Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.34 COL3A1 ELN EMILIN1 FBLN5 FBN1 FLNA
2 muscle MP:0005369 10.23 ACTA2 COL3A1 EFEMP2 ELN FBLN5 FBN1
3 growth/size/body region MP:0005378 10.22 COL3A1 EFEMP2 FBLN5 FBN1 FLNA LTBP4
4 cardiovascular system MP:0005385 10.09 ACTA2 COL3A1 EFEMP2 ELN EMILIN1 FBLN5
5 digestive/alimentary MP:0005381 10.07 COL3A1 FLNA LTBP4 MYH11 MYLK SLC2A8
6 cellular MP:0005384 10.03 COL3A1 EFEMP2 FBLN5 FBN1 FLNA LTBP4
7 craniofacial MP:0005382 9.87 FBLN5 FBN1 FLNA SMAD3 TGFB2 TGFBR1
8 respiratory system MP:0005388 9.73 COL3A1 EFEMP2 ELN FBLN5 FBN1 FLNA
9 integument MP:0010771 9.32 COL3A1 EFEMP2 EMILIN1 FBLN5 FBN1 LTBP4
Sources

Drugs & Therapeutics for Arterial Tortuosity Syndrome

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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

Cochrane evidence based reviews: arterial tortuosity syndrome

Sources

Genetic Tests for Arterial Tortuosity Syndrome

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Genetic tests related to Arterial Tortuosity Syndrome:

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

Anatomical Context for Arterial Tortuosity Syndrome

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Organs/tissues related to Arterial Tortuosity Syndrome:

MalaCards : Skin, Heart, Eye, Brain, Bone, Small Intestine, Endothelial
Sources

Publications for Arterial Tortuosity Syndrome

About this section

Articles related to Arterial Tortuosity Syndrome:

(show top 50) (show all 357)
# Title Authors PMID Year
1
Arterial tortuosity syndrome: 40 new families and literature review. 62 24 57 5
29323665 2018
2
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. 62 24 57 5
17935213 2008
3
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. 62 24 57 5
16550171 2006
4
Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. 62 57 5
18565096 2008
5
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13. 62 57 5
14569121 2003
6
Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series. 62 24 5
28726533 2018
7
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. 62 24 5
22488877 2012
8
Congenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the SLC2A10 gene. 62 24 57
19508422 2009
9
Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome. 62 24 5
17163528 2007
10
Three new families with arterial tortuosity syndrome. 62 24 57
15529317 2004
11
A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar. 57 5
12801113 2003
12
Artery tortuosity syndrome exhibiting early-onset emphysema with novel compound heterozygous SLC2A10 mutations. 24 5
23494979 2013
13
Ehlers-Danlos syndrome associated with multiple pulmonary artery stenoses and tortuous systemic arteries. 24 57
5352829 1969
14
GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts. 62 57
26376865 2015
15
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. 62 5
25373504 2014
16
Arterial tortuosity syndrome in two Italian paediatric patients. 62 5
19781076 2009
17
Ischemic stroke in an adolescent with arterial tortuosity syndrome. 62 57
16864843 2006
18
A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13. 62 57
15679832 2005
19
Exclusion of candidate genes in a family with arterial tortuosity syndrome. 62 57
15054833 2004
20
Arterial tortuosity syndrome. 62 57
10748415 2000
21
Arterial Tortuosity Syndrome: An Ascorbate Compartmentalization Disorder? 62 24
31621376 2021
22
Arterial Tortuosity Syndrome in a Term Neonate. 62 24
31077662 2019
23
Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta. 5
29543232 2018
24
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders. 5
29907982 2018
25
Clinical Variability in Two Macedonian Families with Arterial Tortuosity Syndrome. 62 24
30425910 2018
26
Severe neonatal hypertension revealing arterial tortuosity syndrome. 62 24
29389400 2018
27
Arterial tortuosity syndrome: early diagnosis and association with venous tortuosity. 62 24
23410549 2013
28
Keratoglobus and deep stromal corneal opacification in a case of arterial tortuosity syndrome. 62 24
21484644 2011
29
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. 62 24
20389311 2010
30
Successful outcome in pregnancy with arterial tortuosity syndrome. 62 24
19622975 2009
31
Images in cardiovascular medicine. Arterial tortuosity syndrome: phenotypic features and cardiovascular manifestations. 62 24
18541745 2008
32
Valve-sparing aortic root replacement in a patient with a rare connective tissue disorder: arterial tortuosity syndrome. 62 24
17198824 2007
33
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
34
Sequence and functional analysis of GLUT10: a glucose transporter in the Type 2 diabetes-linked region of chromosome 20q12-13.1. 57
11592815 2001
35
Molecular cloning of a novel member of the GLUT family of transporters, SLC2a10 (GLUT10), localized on chromosome 20q13.1: a candidate gene for NIDDM susceptibility. 57
11247674 2001
36
Four sibs with arterial tortuosity: description and review of the literature. 62 24
8958317 1996
37
Dysplasia of the systemic and pulmonary arterial system with tortuosity and lengthening of the arteries. A new entity, diagnosed during life, and leading to coronary death in early childhood. 57
5762119 1969
38
Diffuse tortuosity and lengthening of the arteries. 57
6033167 1967
39
Variation among DNA banking consent forms: points for clinicians to bank on. 24
35834113 2022
40
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. 24
32596782 2020
41
Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection. 24
30071989 2018
42
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 24
28959963 2017
43
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections. 24
27632686 2017
44
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 24
25741868 2015
45
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. 24
22829427 2013
46
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. 24
16685658 2006
47
Mechanisms leading to uniparental disomy and their clinical consequences. 24
10797485 2000
48
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis. 62
36351433 2022
49
Infant with Loeys-Dietz syndrome treated for febrile status epilepticus with COVID-19 infection: first reported case of febrile status epilepticus and focal seizures in a patient with Loeys-Dietz syndrome and review of literature. 62
36328362 2022
50
Aortic tortuosity in Turner syndrome is associated with larger ascending aorta. 62
36434337 2022
Sources

Variations for Arterial Tortuosity Syndrome

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ClinVar genetic disease variations for Arterial Tortuosity Syndrome:

5 (show top 50) (show all 350)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC2A10 NC_000020.11:g.(?_46709717)_(46733854_?)del DEL Pathogenic
 583508 GRCh37: 20:45338356-45362493
GRCh38: 20:46709717-46733854
2 SLC2A10 NM_030777.4(SLC2A10):c.485G>A (p.Trp162Ter) SNV Pathogenic
 1323610 GRCh37: 20:45354160-45354160
GRCh38: 20:46725521-46725521
3 SLC2A10 NM_030777.4(SLC2A10):c.483del (p.Trp162fs) DEL Pathogenic
 1392857 GRCh37: 20:45354154-45354154
GRCh38: 20:46725515-46725515
4 SLC2A10 NM_030777.4(SLC2A10):c.473_476del (p.Ala158fs) MICROSAT Pathogenic
 1454308 GRCh37: 20:45354144-45354147
GRCh38: 20:46725505-46725508
5 SLC2A10 NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter) SNV Pathogenic
 467819 rs1015798796 GRCh37: 20:45354323-45354323
GRCh38: 20:46725684-46725684
6 SLC2A10 NM_030777.4(SLC2A10):c.1424T>A (p.Leu475Ter) SNV Pathogenic
 1399156 GRCh37: 20:45358004-45358004
GRCh38: 20:46729365-46729365
7 SLC2A10 NC_000020.11:g.(?_46709727)_(46733844_?)del DEL Pathogenic
 833326 GRCh37: 20:45338366-45362483
GRCh38:
8 EMILIN1 NM_007046.4(EMILIN1):c.2457_2482dup (p.Gln828fs) DUP Pathogenic
 1343812 GRCh37: 2:27307296-27307297
GRCh38: 2:27084428-27084429
9 EMILIN1 NM_007046.4(EMILIN1):c.1606C>T (p.Gln536Ter) SNV Pathogenic
 1343813 GRCh37: 2:27306045-27306045
GRCh38: 2:27083177-27083177
10 EMILIN1 NM_007046.4(EMILIN1):c.119dup (p.Ser40fs) DUP Pathogenic
 1344492 GRCh37: 2:27302051-27302052
GRCh38: 2:27079183-27079184
11 EMILIN1 NM_007046.4(EMILIN1):c.831dup (p.Ala278fs) DUP Pathogenic
 1527980 GRCh37: 2:27305269-27305270
GRCh38: 2:27082401-27082402
12 EMILIN1 NM_007046.4(EMILIN1):c.151del (p.Arg51fs) DEL Pathogenic
 1527981 GRCh37: 2:27302079-27302079
GRCh38: 2:27079211-27079211
13 SLC2A10 NM_030777.4(SLC2A10):c.510G>A (p.Trp170Ter) SNV Pathogenic
 4585 rs80358229 GRCh37: 20:45354185-45354185
GRCh38: 20:46725546-46725546
14 SLC2A10 NM_030777.4(SLC2A10):c.961del (p.Val321fs) DEL Pathogenic
 4586 rs587776599 GRCh37: 20:45354636-45354636
GRCh38: 20:46725997-46725997
15 SLC2A10 NM_030777.4(SLC2A10):c.1334del (p.Gly445fs) DEL Pathogenic
 4587 rs587776600 GRCh37: 20:45355547-45355547
GRCh38: 20:46726908-46726908
16 SLC2A10 NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter) SNV Pathogenic
 161096 rs756457861 GRCh37: 20:45354360-45354360
GRCh38: 20:46725721-46725721
17 SLC2A10 NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys) SNV Pathogenic
 161100 rs763220502 GRCh37: 20:45355523-45355523
GRCh38: 20:46726884-46726884
18 SLC2A10 NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter) SNV Pathogenic
 161101 rs370547023 GRCh37: 20:45355544-45355544
GRCh38: 20:46726905-46726905
19 SLC2A10 NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) SNV Pathogenic/Likely Pathogenic
 4588 rs80358230 GRCh37: 20:45353918-45353918
GRCh38: 20:46725279-46725279
20 SLC2A10 NM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp) SNV Pathogenic/Likely Pathogenic
 4589 rs121908172 GRCh37: 20:45354951-45354951
GRCh38: 20:46726312-46726312
21 SLC2A10 NM_030777.4(SLC2A10):c.1393_1394del (p.Ser465fs) MICROSAT Likely Pathogenic
 1027638 rs1980007276 GRCh37: 20:45355604-45355605
GRCh38: 20:46726965-46726966
22 SLC2A10 NM_030777.4(SLC2A10):c.5-2A>G SNV Likely Pathogenic
 1468303 GRCh37: 20:45353678-45353678
GRCh38: 20:46725039-46725039
23 SLC2A10 NM_030777.4(SLC2A10):c.395G>T (p.Arg132Leu) SNV Likely Pathogenic
 535833 rs376346077 GRCh37: 20:45354070-45354070
GRCh38: 20:46725431-46725431
24 SLC2A10 NM_030777.4(SLC2A10):c.1411+2T>A SNV Likely Pathogenic
 213751 rs761721442 GRCh37: 20:45355627-45355627
GRCh38: 20:46726988-46726988
25 SLC2A10 NM_030777.4(SLC2A10):c.1288+2T>C SNV Likely Pathogenic
 656001 rs768848335 GRCh37: 20:45354965-45354965
GRCh38: 20:46726326-46726326
26 FLNA NM_001110556.2(FLNA):c.7023+4A>T SNV Likely Pathogenic
 523406 rs1557175789 GRCh37: X:153579945-153579945
GRCh38: X:154351577-154351577
27 SLC2A10 NM_030777.4(SLC2A10):c.810G>C (p.Val270=) SNV Conflicting Interpretations Of Pathogenicity
 338593 rs774452914 GRCh37: 20:45354485-45354485
GRCh38: 20:46725846-46725846
28 SLC2A10 NM_030777.4(SLC2A10):c.1032C>T (p.Asp344=) SNV Conflicting Interpretations Of Pathogenicity
 754340 rs1301992983 GRCh37: 20:45354707-45354707
GRCh38: 20:46726068-46726068
29 SLC2A10 NM_030777.4(SLC2A10):c.599C>G (p.Pro200Arg) SNV Conflicting Interpretations Of Pathogenicity
 415522 rs75218052 GRCh37: 20:45354274-45354274
GRCh38: 20:46725635-46725635
30 SLC2A10 NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=) SNV Conflicting Interpretations Of Pathogenicity
 139176 rs117587497 GRCh37: 20:45358092-45358092
GRCh38: 20:46729453-46729453
31 SLC2A10 NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) SNV Conflicting Interpretations Of Pathogenicity
 139173 rs148058006 GRCh37: 20:45354491-45354491
GRCh38: 20:46725852-46725852
32 SLC2A10 NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) SNV Conflicting Interpretations Of Pathogenicity
 4590 rs121908173 GRCh37: 20:45354069-45354069
GRCh38: 20:46725430-46725430
33 SLC2A10 NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys) SNV Conflicting Interpretations Of Pathogenicity
 161104 rs767864243 GRCh37: 20:45353988-45353988
GRCh38: 20:46725349-46725349
34 SLC2A10 NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp) SNV Conflicting Interpretations Of Pathogenicity
 161106 rs146579504 GRCh37: 20:45354366-45354366
GRCh38: 20:46725727-46725727
35 SLC2A10 NM_030777.4(SLC2A10):c.330C>T (p.Phe110=) SNV Conflicting Interpretations Of Pathogenicity
 338591 rs199848479 GRCh37: 20:45354005-45354005
GRCh38: 20:46725366-46725366
36 SLC2A10 NM_030777.4(SLC2A10):c.625C>T (p.Leu209=) SNV Conflicting Interpretations Of Pathogenicity
 338592 rs748662135 GRCh37: 20:45354300-45354300
GRCh38: 20:46725661-46725661
37 SLC2A10 NM_030777.4(SLC2A10):c.765C>T (p.Ser255=) SNV Conflicting Interpretations Of Pathogenicity
 213717 rs142106322 GRCh37: 20:45354440-45354440
GRCh38: 20:46725801-46725801
38 SLC2A10 NM_030777.4(SLC2A10):c.1305C>T (p.Leu435=) SNV Conflicting Interpretations Of Pathogenicity
 338596 rs201159437 GRCh37: 20:45355519-45355519
GRCh38: 20:46726880-46726880
39 SLC2A10 NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) SNV Conflicting Interpretations Of Pathogenicity
 195383 rs143301610 GRCh37: 20:45354190-45354190
GRCh38: 20:46725551-46725551
40 SLC2A10 NM_030777.4(SLC2A10):c.931G>A (p.Val311Ile) SNV Conflicting Interpretations Of Pathogenicity
 213720 rs139932041 GRCh37: 20:45354606-45354606
GRCh38: 20:46725967-46725967
41 SLC2A10 NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val) SNV Conflicting Interpretations Of Pathogenicity
 213737 rs201393026 GRCh37: 20:45355584-45355584
GRCh38: 20:46726945-46726945
42 SLC2A10 NM_030777.4(SLC2A10):c.1605C>T (p.Ile535=) SNV Conflicting Interpretations Of Pathogenicity
 415523 rs148470005 GRCh37: 20:45362452-45362452
GRCh38: 20:46733813-46733813
43 SLC2A10 NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly) SNV Conflicting Interpretations Of Pathogenicity
 213713 rs144095826 GRCh37: 20:45353992-45353992
GRCh38: 20:46725353-46725353
44 SLC2A10 NM_030777.4(SLC2A10):c.961G>A (p.Val321Met) SNV Conflicting Interpretations Of Pathogenicity
 380352 rs372596900 GRCh37: 20:45354636-45354636
GRCh38: 20:46725997-46725997
45 SLC2A10 NM_030777.4(SLC2A10):c.1057C>G (p.Leu353Val) SNV Conflicting Interpretations Of Pathogenicity
 213722 rs200196034 GRCh37: 20:45354732-45354732
GRCh38: 20:46726093-46726093
46 SLC2A10 NM_030777.4(SLC2A10):c.432C>T (p.Thr144=) SNV Conflicting Interpretations Of Pathogenicity
 520173 rs371344477 GRCh37: 20:45354107-45354107
GRCh38: 20:46725468-46725468
47 SLC2A10 NM_030777.4(SLC2A10):c.780C>T (p.Ser260=) SNV Conflicting Interpretations Of Pathogenicity
 213718 rs181500247 GRCh37: 20:45354455-45354455
GRCh38: 20:46725816-46725816
48 SLC2A10 NM_030777.4(SLC2A10):c.848C>A (p.Ala283Asp) SNV Uncertain Significance
 213748 rs145994112 GRCh37: 20:45354523-45354523
GRCh38: 20:46725884-46725884
49 SLC2A10 NM_030777.4(SLC2A10):c.1204G>A (p.Ala402Thr) SNV Uncertain Significance
 626895 rs147710229 GRCh37: 20:45354879-45354879
GRCh38: 20:46726240-46726240
50 SLC2A10 NM_030777.4(SLC2A10):c.1423T>G (p.Leu475Val) SNV Uncertain Significance
 213740 rs754355572 GRCh37: 20:45358003-45358003
GRCh38: 20:46729364-46729364

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

73
# 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

Sources

Expression for Arterial Tortuosity Syndrome

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

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Pathways directly related to Arterial Tortuosity Syndrome:

# Pathway Source
1 Defective SLC2A10 causes arterial tortuosity syndrome (ATS) Reactome 66

Pathways related to Arterial Tortuosity Syndrome according to GeneCards Suite gene sharing:

(show all 45)
# Super pathways Score Top Affiliating Genes
1
Signal Transduction 66
13.72 TGFBR2 TGFBR1 TGFB2 SMAD3 MYLK MYH11
2
ERK Signaling 64
Show member pathways
 13.65 TGFBR2 TGFBR1 TGFB2 SMAD3 MYLK MYH11
3
Integrin Pathway 64
Show member pathways
 13.32 TGFBR2 TGFBR1 TGFB2 MYLK MYH11 FBN1
4
Phospholipase-C Pathway 64
Show member pathways
 13.02 TGFBR1 TGFB2 LTBP4 FBN1 ELN EFEMP2
5
Sertoli-Sertoli Cell Junction Dynamics 64
Show member pathways
 12.88 TGFBR2 TGFBR1 TGFB2 MYH11 ACTA2
6
NFAT and Cardiac Hypertrophy 64
Show member pathways
 12.82 TGFBR2 TGFBR1 TGFB2 MYLK ACTA2
7
PAK Pathway 64
Show member pathways
 12.8 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A6 SLC2A11
8
Nuclear receptors meta-pathway 74
Show member pathways
 12.71 SLC2A10 SLC2A11 SLC2A13 SLC2A6 SLC2A8 TGFB2
9
Extracellular matrix organization 66
Show member pathways
 12.57 TGFB2 LTBP4 FBN1 FBLN5 EMILIN1 ELN
10
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases 22
Show member pathways
 12.54 MYLK MYH11 FLNA ACTA2
11
Human Embryonic Stem Cell Pluripotency 64
Show member pathways
 12.43 TGFBR2 TGFBR1 TGFB2 SMAD3
12
Signaling by TGFB family members 66
Show member pathways
 12.37 TGFBR2 TGFBR1 TGFB2 SMAD3 LTBP4 FBN1
13
MAPK signaling pathway 74
12.36 TGFBR2 TGFBR1 TGFB2 FLNA
14
Cell cycle Regulation of G1/S transition (part 1) 22
Show member pathways
 12.33 TGFBR2 TGFBR1 TGFB2 SMAD3
15
Colorectal Cancer Metastasis 64
12.17 SMAD3 TGFB2 TGFBR1 TGFBR2
16
Epithelial to mesenchymal transition in colorectal cancer 74
12.15 TGFBR2 TGFBR1 TGFB2 SMAD3
17
Neuroinflammation and glutamatergic signaling 74
12.08 TGFBR2 TGFBR1 TGFB2 SMAD3
18
TGF-beta receptor signaling in skeletal dysplasias 74
Show member pathways
 11.98 TGFBR2 TGFBR1 SMAD3 FBN1
19
TGF-beta Signaling Pathways 65
11.88 TGFBR2 TGFBR1 TGFB2 SMAD3
20
Th17 Differentiation 65
Show member pathways
 11.85 TGFBR2 TGFBR1 TGFB2 SMAD3
21
Cytokine production by Th17 cells in CF (Mouse model) 22
Show member pathways
 11.83 TGFBR2 TGFBR1 SMAD3
22
7q11.23 copy number variation syndrome 74
11.78 ELN FBLN5 FBN1
23
Burn wound healing 74
11.73 ELN FBN1 SMAD3 TGFB2
24
TGF-beta receptor signaling activates SMADs 66
Show member pathways
 11.73 FBN1 LTBP4 SMAD3 TGFB2 TGFBR1 TGFBR2
25
Development_TGF-beta receptor signaling 22
11.7 TGFBR2 TGFBR1 SMAD3
26
IL-2 Gene Expression in Activated and Quiescent T-Cells 64
Show member pathways
 11.61 TGFBR2 TGFBR1 TGFB2 SMAD3
27
Transcription_P53 signaling pathway 22
11.61 ACTA2 FLNA SMAD3 TGFB2 TGFBR1 TGFBR2
28
HIF1Alpha Pathway 64
11.57 SLC2A6 SLC2A11 SLC2A10
29
NRP1-triggered signaling pathways in pancreatic cancer 74
11.56 TGFBR2 TGFBR1 TGFB2 SMAD3
30
TGF-beta receptor signaling 61
11.53 TGFBR2 TGFBR1 SMAD3
31
Cell adhesion_Plasmin signaling 22
11.52 TGFBR2 TGFBR1 TGFB2
32
Cytoskeleton remodeling_RalA regulation pathway 22
11.51 MYLK MYH11 FLNA ACTA2
33
Smooth Muscle Contraction 66
11.47 MYLK MYH11 ACTA2
34
Neovascularisation processes 74
11.34 TGFBR1 TGFB2 SMAD3
35
Extracellular vesicle-mediated signaling in recipient cells 74
11.23 TGFBR1 TGFB2 SMAD3
36
SMAD2/3 Phosphorylation Motif Mutants in Cancer 66
Show member pathways
 11.21 SMAD3 TGFBR1 TGFBR2
37
Angiotensin II receptor type 1 pathway 74
11.2 TGFBR2 TGFBR1 SMAD3 ACTA2
38
Cellular hexose transport 66
Show member pathways
 11.1 SLC2A8 SLC2A6 SLC2A11 SLC2A10
39
Elastic fibre formation 66
Show member pathways
 11.08 TGFB2 LTBP4 FBN1 FBLN5 EMILIN1 ELN
40
IL-4 Signaling and its Primary Biological Effects in Different Immune Cell Types 65
10.99 TGFBR2 TGFBR1 TGFB2
41
G-protein signaling_Rap2B regulation pathway 22
10.99 TGFB2 MYLK LTBP4 FBN1 ELN EFEMP2
42
Canonical and non-canonical TGF-B signaling 74
10.98 TGFBR2 TGFBR1 SMAD3
43
Glypican 1 network 61
10.97 TGFBR2 TGFBR1
44
Hypothesized pathways in pathogenesis of cardiovascular disease 74
10.95 TGFBR2 TGFBR1 SMAD3 FLNA FBN1
45
Beta5 beta6 beta7 and beta8 integrin cell surface interactions 61
10.92 TGFBR1 FBN1
Sources

GO Terms for Arterial Tortuosity Syndrome

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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 9.77 COL3A1 EFEMP2 ELN EMILIN1 FBLN5 FBN1
2 microfibril GO:0001527 9.73 LTBP4 FBN1 EFEMP2
3 elastic fiber GO:0071953 9.63 FBLN5 ELN EFEMP2
4 transforming growth factor beta ligand-receptor complex GO:0070021 9.62 TGFBR2 TGFBR1
5 collagen-containing extracellular matrix GO:0062023 9.53 TGFB2 LTBP4 FBN1 FBLN5 EMILIN1 ELN

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 10.26 COL3A1 FBN1 TGFB2 TGFBR1 TGFBR2
2 response to hypoxia GO:0001666 10.23 TGFBR2 TGFB2 SMAD3 SLC2A8
3 skeletal system development GO:0001501 10.15 TGFBR1 TGFB2 SMAD3 FBN1
4 wound healing GO:0042060 10.13 TGFBR2 TGFBR1 TGFB2 SMAD3 COL3A1
5 collagen fibril organization GO:0030199 10.11 TGFBR1 TGFB2 COL3A1
6 positive regulation of epithelial to mesenchymal transition GO:0010718 10.1 TGFBR2 TGFBR1 TGFB2 SMAD3
7 epithelial to mesenchymal transition GO:0001837 10.09 FLNA TGFB2 TGFBR1
8 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 10.09 TGFB2 TGFBR1 TGFBR2
9 ventricular septum morphogenesis GO:0060412 10.05 TGFBR2 TGFBR1 TGFB2
10 embryonic cranial skeleton morphogenesis GO:0048701 10.02 TGFBR2 TGFBR1 SMAD3
11 cell-cell junction organization GO:0045216 10.01 TGFB2 SMAD3 FLNA
12 activin receptor signaling pathway GO:0032924 10 TGFBR2 TGFBR1 SMAD3
13 pathway-restricted SMAD protein phosphorylation GO:0060389 9.99 TGFB2 TGFBR1 TGFBR2
14 fructose transmembrane transport GO:0015755 9.95 SLC2A8 SLC2A6 SLC2A11
15 response to cholesterol GO:0070723 9.94 TGFBR2 TGFBR1
16 dehydroascorbic acid transport GO:0070837 9.93 SLC2A10 SLC2A6 SLC2A8
17 transforming growth factor beta receptor signaling pathway GO:0007179 9.93 COL3A1 LTBP4 SMAD3 TGFB2 TGFBR1 TGFBR2
18 membranous septum morphogenesis GO:0003149 9.92 TGFBR2 TGFB2
19 endocardial cushion fusion GO:0003274 9.89 TGFB2 TGFBR2
20 positive regulation of extracellular matrix assembly GO:1901203 9.88 SMAD3 EMILIN1
21 regulation of transforming growth factor beta2 production GO:0032909 9.87 TGFB2 SMAD3
22 glucose transmembrane transport GO:1904659 9.86 SLC2A8 SLC2A6 SLC2A11 SLC2A10
23 aorta smooth muscle tissue morphogenesis GO:0060414 9.85 COL3A1 EFEMP2 MYLK
24 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.8 TGFB2 TGFBR1 TGFBR2
25 carbohydrate transport GO:0008643 9.71 SLC2A8 SLC2A6 SLC2A11 SLC2A10
26 regulation of multicellular organismal process GO:0051239 9.6 TGFBR2 TGFBR1
27 hexose transmembrane transport GO:0008645 9.56 SLC2A8 SLC2A6 SLC2A11 SLC2A10
28 elastic fiber assembly GO:0048251 9.36 MYH11 LTBP4 FBLN5 EMILIN1 EFEMP2 COL3A1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 10.11 LTBP4 FBN1 FBLN5 COL3A1
2 transmembrane transporter activity GO:0022857 10.06 SLC2A10 SLC2A11 SLC2A13 SLC2A6 SLC2A8
3 SMAD binding GO:0046332 9.98 TGFBR2 TGFBR1 SMAD3 COL3A1
4 transforming growth factor beta binding GO:0050431 9.95 TGFBR2 TGFBR1 LTBP4
5 extracellular matrix structural constituent GO:0005201 9.93 COL3A1 EFEMP2 ELN EMILIN1 FBN1 LTBP4
6 D-glucose transmembrane transporter activity GO:0055056 9.88 SLC2A8 SLC2A6 SLC2A10
7 transforming growth factor beta receptor activity GO:0005024 9.85 LTBP4 TGFBR1 TGFBR2
8 type II transforming growth factor beta receptor binding GO:0005114 9.84 TGFBR1 TGFB2
9 dehydroascorbic acid transmembrane transporter activity GO:0033300 9.8 SLC2A8 SLC2A6 SLC2A10
10 fructose transmembrane transporter activity GO:0005353 9.73 SLC2A8 SLC2A6 SLC2A11
11 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.7 TGFBR2 TGFBR1
12 type III transforming growth factor beta receptor binding GO:0034714 9.67 TGFBR2 TGFB2
13 glucose transmembrane transporter activity GO:0005355 9.56 SLC2A8 SLC2A6 SLC2A11 SLC2A10
14 extracellular matrix constituent conferring elasticity GO:0030023 9.23 FBN1 FBLN5 EMILIN1 ELN
Sources

Sources for Arterial Tortuosity Syndrome

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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