ATORS
MCID: ART001
MIFTS: 66

Arterial Tortuosity Syndrome (ATORS)

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

Aliases & Classifications for Arterial Tortuosity Syndrome

MalaCards integrated aliases for Arterial Tortuosity Syndrome:

Name: Arterial Tortuosity Syndrome 56 12 24 52 25 58 73 36 29 13 6 43 15 71
Arterial Tortuosity 56 74 52 25 73 29 6
Ats 56 52 25 58
Ators 56 73
Tortuosity, Arterial, Syndrome 39

Characteristics:

Orphanet epidemiological data:

58
arterial tortuosity syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
increased risk of early death


HPO:

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


Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Arterial Tortuosity Syndrome

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. 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 moyamoya disease 1 and costello syndrome. 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 telangiectasia of the skin and congestive heart failure

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

NIH Rare Diseases : 52 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.

OMIM : 56 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)

KEGG : 36 Arterial tortuosity syndrome is an autosomal recessive disorder characterized by tortuosity, elongation, stenosis and aneurysm formation in the large and medium-sized arteries with defective elastic fibers of the arterial wall. Other features of this disease are characteristic face and several connective tissue manifestations. It has been speculated that arterial tortuosity syndrome is caused by the upregulation of TGF-beta signaling that stimulates vessel wall cell proliferation, but other mechanism involving disturbed transport of ascorbate, a cofactor for collagen and elastin hydroxylases, has been proposed recently.

UniProtKB/Swiss-Prot : 73 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 : 74 Arterial tortuosity syndrome is a rare congenital connective tissue condition disorder characterized by... more...

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 7794)
# Related Disease Score Top Affiliating Genes
1 moyamoya disease 1 31.6 MYH11 ELN ACTA2
2 costello syndrome 31.5 FBN1 FBLN5 ELN
3 supravalvular aortic stenosis 31.2 FBN1 FBLN5 ELN EFEMP2
4 multiple self-healing squamous epithelioma 31.2 TGFBR2 TGFBR1
5 pseudoxanthoma elasticum 31.2 MYH11 FBN1 ELN
6 brittle bone disorder 31.1 FBN1 ELN COL3A1
7 glaucoma, primary open angle 31.0 TGFB2 FBN1 ELN
8 intraocular pressure quantitative trait locus 31.0 TGFB2 FBN1 ELN
9 hereditary hemorrhagic telangiectasia 30.8 TGFBR2 TGFBR1 TGFB2
10 occipital horn syndrome 30.7 LTBP4 FBLN5 ELN EFEMP2
11 patent ductus arteriosus 1 30.6 TGFBR2 TGFBR1 MYH11 FBN1 ELN ACTA2
12 cutis laxa, autosomal recessive, type iia 30.6 LTBP4 FBLN5 EFEMP2
13 cutis laxa, autosomal recessive, type ic 30.6 LTBP4 FBLN5 EFEMP2
14 geroderma osteodysplasticum 30.6 LTBP4 FBLN5 EFEMP2
15 telangiectasis 30.5 TGFBR1 FBN1 ELN
16 pneumothorax 30.5 FBN1 FBLN5 ELN
17 inguinal hernia 30.4 FBN1 FBLN5 ELN
18 loeys-dietz syndrome 1 29.9 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYH11
19 cutis laxa 29.7 LTBP4 FBN1 FBLN5 ELN EFEMP2
20 pelvic organ prolapse 29.7 FBN1 FBLN5 ELN COL3A1
21 varicose veins 29.7 FBN1 ELN COL3A1
22 intracranial aneurysm 29.7 TGFBR2 TGFBR1 TGFB2 ELN COL3A1
23 chronic actinic dermatitis 29.6 FBN1 ELN
24 patent foramen ovale 29.6 LTBP4 FBN1 ELN
25 cutis laxa, autosomal dominant 1 29.5 TGFBR2 TGFBR1 SLC2A10 FBN1 FBLN5 ELN
26 pulmonary fibrosis, idiopathic 29.5 TGFBR1 TGFB2 SMAD3 ELN COL3A1
27 loeys-dietz syndrome 3 29.4 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYH11
28 craniosynostosis 29.3 TGFBR2 TGFBR1 SMAD3 FBN1
29 pulmonary hypertension 29.3 TGFBR2 TGFBR1 SMAD3 ACTA2
30 mitral valve disease 29.3 TGFB2 FBN1 ELN
31 eisenmenger syndrome 29.2 TGFBR2 TGFBR1
32 loeys-dietz syndrome 5 29.2 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
33 ehlers-danlos syndrome, vascular type 29.2 ELN COL3A1
34 ehlers-danlos syndrome 29.2 TGFBR1 SLC2A10 MYH11 FBN1 ELN COL3A1
35 ocular cicatricial pemphigoid 29.1 TGFBR2 ACTA2
36 transient hypogammaglobulinemia 29.1 TGFBR2 TGFBR1
37 aortic valve insufficiency 29.0 TGFBR2 TGFBR1 MYH11 FBN1 ELN EFEMP2
38 bladder diverticulum 28.9 SLC2A10 LTBP4 ELN EFEMP2
39 transient hypogammaglobulinemia of infancy 28.9 TGFBR2 TGFBR1
40 tendinosis 28.8 TGFBR2 TGFB2
41 marfan syndrome 28.6 TGFBR2 TGFBR1 TGFB2 MYH11 FBN1 ELN
42 diaphragmatic eventration 28.6 LTBP4 FBN1
43 ureteric orifice cancer 28.6 FBN1 FBLN5 ELN EFEMP2
44 hypermobility syndrome 28.6 FBN1 COL3A1
45 pulsating exophthalmos 28.3 TGFBR2 TGFBR1 COL3A1
46 collagen disease 28.3 TGFBR2 TGFBR1 FBN1 ELN COL3A1 ACTA2
47 aortic aneurysm, familial thoracic 2 28.3 SLC2A10 FBN1 COL3A1 ACTA2
48 scoliosis 28.2 TGFBR2 TGFB2 LTBP4 FBN1 FBLN5 ELN
49 orofacial cleft 28.0 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
50 aortic valve disease 1 27.5 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYH11

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



Diseases related to Arterial Tortuosity Syndrome

Symptoms & Phenotypes for Arterial Tortuosity Syndrome

Human phenotypes related to Arterial Tortuosity Syndrome:

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

Symptoms via clinical synopsis from OMIM:

56
Abdomen External Features:
inguinal hernia
umbilical hernia

Chest External Features:
pectus carinatum
pectus excavatum

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
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

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

Head And Neck Face:
micrognathia
long face
long philtrum

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

MGI Mouse Phenotypes related to Arterial Tortuosity Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.18 ACTA2 COL3A1 EFEMP2 FBLN5 FBN1 LTBP4
2 cellular MP:0005384 10.07 COL3A1 EFEMP2 FBLN5 FBN1 LTBP4 MYH11
3 homeostasis/metabolism MP:0005376 10 COL3A1 FBLN5 FBN1 LTBP4 MYH11 SLC2A13
4 digestive/alimentary MP:0005381 9.87 COL3A1 LTBP4 MYH11 SMAD3 TGFB2 TGFBR1
5 integument MP:0010771 9.81 COL3A1 EFEMP2 FBLN5 FBN1 LTBP4 MYH11
6 muscle MP:0005369 9.65 ACTA2 COL3A1 EFEMP2 FBLN5 FBN1 LTBP4
7 respiratory system MP:0005388 9.32 COL3A1 EFEMP2 FBLN5 FBN1 LTBP4 MYH11

Drugs & Therapeutics for Arterial Tortuosity Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sleep Disordered Breathing in Marfan Syndrome: Susceptibility and Hemodynamics Recruiting NCT03985657
2 "Percutaneous Axillary Access in the Endovascular Treatment of Thoracoabdominal Aortic Pathology" Recruiting NCT03223311

Search NIH Clinical Center for Arterial Tortuosity Syndrome

Cochrane evidence based reviews: 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:

40
Skin, Heart, Eye, Brain, Lung, Bone, Small Intestine

Publications for Arterial Tortuosity Syndrome

Articles related to Arterial Tortuosity Syndrome:

(show top 50) (show all 291)
# Title Authors PMID Year
1
Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. 24 61 56 6
18565096 2008
2
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. 6 61 24 56
17935213 2008
3
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. 56 24 6 61
16550171 2006
4
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13. 56 6 61
14569121 2003
5
Congenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the SLC2A10 gene. 56 61 24
19508422 2009
6
A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13. 24 56 61
15679832 2005
7
Three new families with arterial tortuosity syndrome. 61 24 56
15529317 2004
8
A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar. 56 6
12801113 2003
9
Sequence and functional analysis of GLUT10: a glucose transporter in the Type 2 diabetes-linked region of chromosome 20q12-13.1. 24 56
11592815 2001
10
Ehlers-Danlos syndrome associated with multiple pulmonary artery stenoses and tortuous systemic arteries. 24 56
5352829 1969
11
Arterial tortuosity syndrome: 40 new families and literature review. 56 61
29323665 2018
12
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. 61 56
26376865 2015
13
Arterial Tortuosity Syndrome 61 6
25392904 2014
14
Ischemic stroke in an adolescent with arterial tortuosity syndrome. 56 61
16864843 2006
15
Exclusion of candidate genes in a family with arterial tortuosity syndrome. 61 56
15054833 2004
16
Arterial tortuosity syndrome. 56 61
10748415 2000
17
2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 6
25173340 2014
18
Arterial tortuosity syndrome: early diagnosis and association with venous tortuosity. 24 61
23410549 2013
19
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. 24 61
22488877 2012
20
GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling. 61 24
22116938 2012
21
Evaluation of the adolescent or adult with some features of Marfan syndrome. 6
22237449 2012
22
Keratoglobus and deep stromal corneal opacification in a case of arterial tortuosity syndrome. 24 61
21484644 2011
23
Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome. 24 61
20639396 2010
24
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. 61 24
20389311 2010
25
Arterial tortuosity syndrome in two Italian paediatric patients. 61 24
19781076 2009
26
Successful outcome in pregnancy with arterial tortuosity syndrome. 24 61
19622975 2009
27
A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin. 61 24
18818946 2009
28
A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome. 61 24
18774132 2009
29
Hybrid transcatheter-surgical strategy in arterial tortuosity syndrome. 24 61
19049778 2008
30
Hybrid approach in a case of arterial tortuosity syndrome. 61 24
18467428 2008
31
Valve-sparing aortic root replacement in a patient with a rare connective tissue disorder: arterial tortuosity syndrome. 61 24
17198824 2007
32
Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome. 61 24
17163528 2007
33
Aneurysm syndromes caused by mutations in the TGF-beta receptor. 24 61
16928994 2006
34
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. 56
11247674 2001
35
Four sibs with arterial tortuosity: description and review of the literature. 24 61
8958317 1996
36
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. 56
5762119 1969
37
Diffuse tortuosity and lengthening of the arteries. 56
6033167 1967
38
Artery tortuosity syndrome exhibiting early-onset emphysema with novel compound heterozygous SLC2A10 mutations. 24
23494979 2013
39
Genetic associations with diabetes: meta-analyses of 10 candidate polymorphisms. 24
23922971 2013
40
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. 24
22829427 2013
41
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. 24
22772368 2012
42
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. 24
21217753 2011
43
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. 24
16685658 2006
44
Association study of genetic polymorphisms of SLC2A10 gene and type 2 diabetes in the Taiwanese population. 24
16586067 2006
45
Genetic analysis of the GLUT10 glucose transporter (SLC2A10) polymorphisms in Caucasian American type 2 diabetes. 24
16336637 2005
46
Evaluation of SLC2A10 (GLUT10) as a candidate gene for type 2 diabetes and related traits in Finns. 24
15936967 2005
47
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 24
15731757 2005
48
Genetic variation of the GLUT10 glucose transporter (SLC2A10) and relationships to type 2 diabetes and intermediary traits. 24
12941788 2003
49
Two-dimensional echocardiographic aortic root dimensions in normal children and adults. 24
2773795 1989
50
Arterial tortuosity syndrome: a late and unexpected diagnosis and description of a novel likely pathogenic mutation. 61
31786173 2020

Variations for Arterial Tortuosity Syndrome

ClinVar genetic disease variations for Arterial Tortuosity Syndrome:

6 (show top 50) (show all 223) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC2A10 NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter)SNV Pathogenic 467819 rs1015798796 20:45354323-45354323 20:46725684-46725684
2 SLC2A10 NC_000020.11:g.(?_46709717)_(46733854_?)deldeletion Pathogenic 583508 20:45338356-45362493 20:46709717-46733854
3 SLC2A10 NC_000020.11:g.(?_46709727)_(46733844_?)deldeletion Pathogenic 833326 20:45338366-45362483
4 SLC2A10 NM_030777.4(SLC2A10):c.510G>A (p.Trp170Ter)SNV Pathogenic 4585 rs80358229 20:45354185-45354185 20:46725546-46725546
5 SLC2A10 NM_030777.4(SLC2A10):c.961del (p.Val321fs)deletion Pathogenic 4586 rs587776599 20:45354636-45354636 20:46725997-46725997
6 SLC2A10 NM_030777.4(SLC2A10):c.1334del (p.Gly445fs)deletion Pathogenic 4587 rs587776600 20:45355547-45355547 20:46726908-46726908
7 SLC2A10 NM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp)SNV Pathogenic 4589 rs121908172 20:45354951-45354951 20:46726312-46726312
8 SLC2A10 NM_030777.4(SLC2A10):c.417T>A (p.Tyr139Ter)SNV Pathogenic 161095 rs572620317 20:45354092-45354092 20:46725453-46725453
9 SLC2A10 NM_030777.4(SLC2A10):c.425G>T (p.Gly142Val)SNV Pathogenic 161105 rs864309480 20:45354100-45354100 20:46725461-46725461
10 SLC2A10 NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter)SNV Pathogenic 161096 rs756457861 20:45354360-45354360 20:46725721-46725721
11 SLC2A10 NM_030777.4(SLC2A10):c.1411+1G>ASNV Pathogenic 161103 rs864309479 20:45355626-45355626 20:46726987-46726987
12 SLC2A10 NM_030777.4(SLC2A10):c.731_734del (p.Leu244fs)deletion Pathogenic 161107 rs864309481 20:45354403-45354406 20:46725764-46725767
13 SLC2A10 NM_030777.4(SLC2A10):c.737G>A (p.Gly246Glu)SNV Pathogenic 161108 rs564317065 20:45354412-45354412 20:46725773-46725773
14 SLC2A10 NM_030777.4(SLC2A10):c.756C>A (p.Cys252Ter)SNV Pathogenic 161098 rs864309478 20:45354431-45354431 20:46725792-46725792
15 SLC2A10 NM_030777.4(SLC2A10):c.1334G>A (p.Gly445Glu)SNV Pathogenic 161102 rs753723351 20:45355548-45355548 20:46726909-46726909
16 SLC2A10 NM_030777.4(SLC2A10):c.1411+480_1547+299deldeletion Pathogenic 161099 20:45356083-45358404 20:46727444-46729765
17 SLC2A10 NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg)SNV Pathogenic/Likely pathogenic 4588 rs80358230 20:45353918-45353918 20:46725279-46725279
18 SLC2A10 NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter)SNV Pathogenic/Likely pathogenic 161101 rs370547023 20:45355544-45355544 20:46726905-46726905
19 FLNA NM_001110556.2(FLNA):c.7023+4A>TSNV Likely pathogenic 523406 rs1557175789 X:153579945-153579945 X:154351577-154351577
20 SLC2A10 NM_030777.4(SLC2A10):c.1288+2T>CSNV Likely pathogenic 656001 20:45354965-45354965 20:46726326-46726326
21 SLC2A10 NM_030777.4(SLC2A10):c.432C>T (p.Thr144=)SNV Conflicting interpretations of pathogenicity 520173 rs371344477 20:45354107-45354107 20:46725468-46725468
22 SLC2A10 NM_030777.4(SLC2A10):c.1032C>T (p.Asp344=)SNV Conflicting interpretations of pathogenicity 754340 20:45354707-45354707 20:46726068-46726068
23 SLC2A10 NM_030777.4(SLC2A10):c.1605C>T (p.Ile535=)SNV Conflicting interpretations of pathogenicity 415523 rs148470005 20:45362452-45362452 20:46733813-46733813
24 SLC2A10 NM_030777.4(SLC2A10):c.876C>A (p.Asp292Glu)SNV Conflicting interpretations of pathogenicity 423950 rs777604168 20:45354551-45354551 20:46725912-46725912
25 SLC2A10 NM_030777.4(SLC2A10):c.1412-3C>TSNV Conflicting interpretations of pathogenicity 390198 rs374857656 20:45357989-45357989 20:46729350-46729350
26 SLC2A10 NM_030777.4(SLC2A10):c.873G>A (p.Val291=)SNV Conflicting interpretations of pathogenicity 384041 rs755197578 20:45354548-45354548 20:46725909-46725909
27 SLC2A10 NM_030777.4(SLC2A10):c.599C>G (p.Pro200Arg)SNV Conflicting interpretations of pathogenicity 415522 rs75218052 20:45354274-45354274 20:46725635-46725635
28 SLC2A10 NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp)SNV Conflicting interpretations of pathogenicity 161106 rs146579504 20:45354366-45354366 20:46725727-46725727
29 SLC2A10 NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln)SNV Conflicting interpretations of pathogenicity 161097 rs771028960 20:45354367-45354367 20:46725728-46725728
30 SLC2A10 NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=)SNV Conflicting interpretations of pathogenicity 139176 rs117587497 20:45358092-45358092 20:46729453-46729453
31 SLC2A10 NM_030777.4(SLC2A10):c.816C>G (p.Ala272=)SNV Conflicting interpretations of pathogenicity 139173 rs148058006 20:45354491-45354491 20:46725852-46725852
32 SLC2A10 NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile)SNV Conflicting interpretations of pathogenicity 195383 rs143301610 20:45354190-45354190 20:46725551-46725551
33 SLC2A10 NM_030777.4(SLC2A10):c.1464C>T (p.Leu488=)SNV Conflicting interpretations of pathogenicity 197356 rs142639587 20:45358044-45358044 20:46729405-46729405
34 SLC2A10 NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys)SNV Conflicting interpretations of pathogenicity 161100 rs763220502 20:45355523-45355523 20:46726884-46726884
35 SLC2A10 NM_030777.4(SLC2A10):c.-15C>TSNV Conflicting interpretations of pathogenicity 139185 rs377142129 20:45338361-45338361 20:46709722-46709722
36 SLC2A10 NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys)SNV Conflicting interpretations of pathogenicity 161104 rs767864243 20:45353988-45353988 20:46725349-46725349
37 SLC2A10 NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly)SNV Conflicting interpretations of pathogenicity 213713 rs144095826 20:45353992-45353992 20:46725353-46725353
38 SLC2A10 NM_030777.4(SLC2A10):c.765C>T (p.Ser255=)SNV Conflicting interpretations of pathogenicity 213717 rs142106322 20:45354440-45354440 20:46725801-46725801
39 SLC2A10 NM_030777.4(SLC2A10):c.780C>T (p.Ser260=)SNV Conflicting interpretations of pathogenicity 213718 rs181500247 20:45354455-45354455 20:46725816-46725816
40 SLC2A10 NM_030777.4(SLC2A10):c.848C>A (p.Ala283Asp)SNV Conflicting interpretations of pathogenicity 213748 rs145994112 20:45354523-45354523 20:46725884-46725884
41 SLC2A10 NM_030777.4(SLC2A10):c.1208G>A (p.Arg403Gln)SNV Conflicting interpretations of pathogenicity 213723 rs199912561 20:45354883-45354883 20:46726244-46726244
42 SLC2A10 NM_030777.4(SLC2A10):c.1225C>T (p.Arg409Cys)SNV Conflicting interpretations of pathogenicity 213724 rs562212724 20:45354900-45354900 20:46726261-46726261
43 SLC2A10 NM_030777.4(SLC2A10):c.931G>A (p.Val311Ile)SNV Conflicting interpretations of pathogenicity 213720 rs139932041 20:45354606-45354606 20:46725967-46725967
44 SLC2A10 NM_030777.4(SLC2A10):c.1010G>C (p.Gly337Ala)SNV Conflicting interpretations of pathogenicity 213721 rs150745395 20:45354685-45354685 20:46726046-46726046
45 SLC2A10 NM_030777.4(SLC2A10):c.674G>A (p.Arg225His)SNV Conflicting interpretations of pathogenicity 241606 rs34295241 20:45354349-45354349 20:46725710-46725710
46 SLC2A10 NM_030777.4(SLC2A10):c.625C>T (p.Leu209=)SNV Conflicting interpretations of pathogenicity 338592 rs748662135 20:45354300-45354300 20:46725661-46725661
47 SLC2A10 NM_030777.4(SLC2A10):c.810G>C (p.Val270=)SNV Conflicting interpretations of pathogenicity 338593 rs774452914 20:45354485-45354485 20:46725846-46725846
48 SLC2A10 NM_030777.4(SLC2A10):c.961G>A (p.Val321Met)SNV Conflicting interpretations of pathogenicity 380352 rs372596900 20:45354636-45354636 20:46725997-46725997
49 SLC2A10 NM_030777.4(SLC2A10):c.330C>T (p.Phe110=)SNV Conflicting interpretations of pathogenicity 338591 rs199848479 20:45354005-45354005 20:46725366-46725366
50 SLC2A10 NM_030777.4(SLC2A10):c.1305C>T (p.Leu435=)SNV Conflicting interpretations of pathogenicity 338596 rs201159437 20:45355519-45355519 20:46726880-46726880

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

Expression for Arterial Tortuosity Syndrome

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

Pathways for Arterial Tortuosity Syndrome

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

(show all 40)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 TGFBR2 TGFBR1 TGFB2 SMAD3 MYH11 LTBP4
2
Show member pathways
13.29 TGFBR2 TGFBR1 TGFB2 MYH11 FBN1 ELN
3
Show member pathways
12.95 TGFBR1 TGFB2 LTBP4 FBN1 ELN EFEMP2
4
Show member pathways
12.85 TGFBR2 TGFBR1 TGFB2 MYH11 ACTA2
5
Show member pathways
12.72 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A6 SLC2A11
6
Show member pathways
12.63 TGFB2 LTBP4 FBN1 FBLN5 ELN EFEMP2
7
Show member pathways
12.58 TGFBR2 TGFBR1 COL3A1 ACTA2
8
Show member pathways
12.51 TGFBR2 TGFBR1 TGFB2 SMAD3
9
Show member pathways
12.4 TGFBR2 TGFBR1 TGFB2 SMAD3
10 12.28 TGFBR2 TGFBR1 TGFB2 SMAD3
11
Show member pathways
12.16 TGFBR2 TGFBR1 TGFB2 SMAD3
12 12.12 TGFBR2 TGFBR1 TGFB2 SMAD3
13 12.1 TGFBR2 TGFBR1 TGFB2 SMAD3
14 12.09 TGFBR2 TGFBR1 TGFB2 SMAD3
15
Show member pathways
12.02 TGFBR2 TGFBR1 TGFB2 SMAD3
16 11.99 TGFBR1 SMAD3 ACTA2
17 11.98 TGFBR2 TGFBR1 SMAD3
18 11.96 TGFBR2 TGFBR1 TGFB2
19 11.84 TGFBR2 TGFBR1 TGFB2 SMAD3
20
Show member pathways
11.81 TGFBR2 TGFBR1 SMAD3
21
Show member pathways
11.8 TGFBR2 TGFBR1 TGFB2 SMAD3
22 11.8 TGFBR2 TGFBR1 TGFB2 SMAD3 COL3A1
23 11.79 TGFBR2 TGFB2 SLC2A6 SLC2A13 SLC2A11 SLC2A10
24
Show member pathways
11.72 TGFBR2 TGFBR1 SMAD3
25 11.69 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
26 11.68 TGFBR2 TGFBR1 SMAD3
27 11.67 TGFBR2 TGFBR1 SMAD3
28
Show member pathways
11.66 TGFBR2 TGFBR1 SMAD3
29 11.64 TGFBR2 TGFBR1 TGFB2 SMAD3 ACTA2
30 11.57 TGFBR2 TGFBR1 SMAD3
31
Show member pathways
11.57 TGFBR2 TGFBR1 TGFB2 SMAD3
32 11.54 SLC2A6 SLC2A11 SLC2A10
33 11.51 TGFBR2 TGFBR1 SMAD3
34 11.48 TGFBR2 TGFBR1 TGFB2
35 11.15 TGFBR2 TGFBR1 TGFB2 SMAD3
36 11.05 TGFBR2 TGFBR1 SMAD3
37 10.96 TGFBR2 TGFBR1 SMAD3 FBN1
38
Show member pathways
10.96 TGFB2 LTBP4 FBN1 FBLN5 ELN EFEMP2
39 10.95 TGFB2 LTBP4 FBN1 ELN EFEMP2 COL3A1
40 10.93 TGFBR2 TGFBR1 TGFB2

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 space GO:0005615 9.8 TGFB2 LTBP4 FBN1 FBLN5 EFEMP2 COL3A1
2 extracellular matrix GO:0031012 9.35 LTBP4 FBN1 FBLN5 ELN COL3A1
3 collagen-containing extracellular matrix GO:0062023 9.17 TGFB2 LTBP4 FBN1 FBLN5 ELN EFEMP2
4 elastic fiber GO:0071953 9.16 FBLN5 ELN

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.91 FBN1 FBLN5 ELN COL3A1
2 heart development GO:0007507 9.91 TGFBR2 TGFBR1 TGFB2 FBN1 COL3A1
3 cell cycle arrest GO:0007050 9.83 TGFBR1 TGFB2 SMAD3
4 kidney development GO:0001822 9.82 TGFBR1 TGFB2 FBN1
5 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.78 TGFBR2 TGFBR1 SMAD3 SLC2A10
6 cellular response to transforming growth factor beta stimulus GO:0071560 9.77 TGFBR1 SMAD3 FBN1
7 collagen fibril organization GO:0030199 9.76 TGFBR1 TGFB2 COL3A1
8 carbohydrate transport GO:0008643 9.73 SLC2A6 SLC2A11 SLC2A10
9 ventricular septum morphogenesis GO:0060412 9.72 TGFBR2 TGFBR1 TGFB2
10 skeletal system development GO:0001501 9.72 TGFBR1 TGFB2 SMAD3 FBN1 COL3A1
11 embryonic cranial skeleton morphogenesis GO:0048701 9.71 TGFBR2 TGFBR1 SMAD3
12 glucose transmembrane transport GO:1904659 9.7 SLC2A6 SLC2A11 SLC2A10
13 activin receptor signaling pathway GO:0032924 9.67 TGFBR2 TGFBR1 SMAD3
14 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.66 SMAD3 LTBP4
15 cell-cell junction organization GO:0045216 9.65 TGFB2 SMAD3
16 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.65 TGFBR2 TGFBR1
17 ventricular trabecula myocardium morphogenesis GO:0003222 9.64 TGFBR1 TGFB2
18 secondary palate development GO:0062009 9.63 TGFBR2 TGFB2
19 cardiac epithelial to mesenchymal transition GO:0060317 9.63 TGFBR1 TGFB2
20 pathway-restricted SMAD protein phosphorylation GO:0060389 9.63 TGFBR2 TGFBR1 TGFB2
21 atrioventricular valve morphogenesis GO:0003181 9.62 TGFBR2 TGFB2
22 response to cholesterol GO:0070723 9.62 TGFBR2 TGFBR1
23 membranous septum morphogenesis GO:0003149 9.61 TGFBR2 TGFB2
24 hexose transmembrane transport GO:0008645 9.61 SLC2A6 SLC2A11 SLC2A10
25 dehydroascorbic acid transport GO:0070837 9.6 SLC2A6 SLC2A10
26 regulation of transforming growth factor beta2 production GO:0032909 9.58 TGFB2 SMAD3
27 glucose import GO:0046323 9.58 SLC2A6 SLC2A13 SLC2A10
28 endocardial cushion fusion GO:0003274 9.57 TGFBR2 TGFB2
29 positive regulation of epithelial to mesenchymal transition GO:0010718 9.56 TGFBR2 TGFBR1 TGFB2 SMAD3
30 elastic fiber assembly GO:0048251 9.54 MYH11 FBLN5 EFEMP2
31 wound healing GO:0042060 9.35 TGFBR2 TGFBR1 TGFB2 SMAD3 COL3A1
32 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.33 TGFBR2 TGFBR1 TGFB2
33 transforming growth factor beta receptor signaling pathway GO:0007179 9.1 TGFBR2 TGFBR1 TGFB2 SMAD3 LTBP4 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 transmembrane transporter activity GO:0022857 9.71 SLC2A6 SLC2A13 SLC2A11 SLC2A10
2 integrin binding GO:0005178 9.67 LTBP4 FBN1 FBLN5 COL3A1
3 transforming growth factor beta receptor binding GO:0005160 9.54 TGFB2 SMAD3
4 activin binding GO:0048185 9.52 TGFBR2 TGFBR1
5 glucose transmembrane transporter activity GO:0005355 9.51 SLC2A6 SLC2A11
6 transforming growth factor beta binding GO:0050431 9.5 TGFBR2 TGFBR1 LTBP4
7 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.49 TGFBR2 TGFBR1
8 type II transforming growth factor beta receptor binding GO:0005114 9.48 TGFBR1 TGFB2
9 dehydroascorbic acid transmembrane transporter activity GO:0033300 9.46 SLC2A6 SLC2A10
10 carbohydrate:proton symporter activity GO:0005351 9.43 SLC2A6 SLC2A10
11 extracellular matrix constituent conferring elasticity GO:0030023 9.43 FBN1 FBLN5 ELN
12 transforming growth factor beta-activated receptor activity GO:0005024 9.33 TGFBR2 TGFBR1 LTBP4
13 SMAD binding GO:0046332 9.26 TGFBR2 TGFBR1 SMAD3 COL3A1
14 extracellular matrix structural constituent GO:0005201 9.02 LTBP4 FBN1 ELN EFEMP2 COL3A1

Sources for Arterial Tortuosity Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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