ATORS
MCID: ART001
MIFTS: 64

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 57 12 25 20 43 58 72 36 29 13 6 44 15 70
Arterial Tortuosity 57 73 20 43 72 29 6
Ats 57 20 43 58
Ators 57 72
Tortuosity, Arterial, Syndrome 39

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
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

MedlinePlus Genetics : 43 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 4 and loeys-dietz syndrome 5. 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. The drugs Ezetimibe and Atorvastatin have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and bone, and related phenotypes are congestive heart failure and telangiectasia of the skin

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

GARD : 20 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® : 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 05-Apr-2021)

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 : 72 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 : 73 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 252)
# Related Disease Score Top Affiliating Genes
1 loeys-dietz syndrome 4 31.8 TGFBR2 TGFBR1 TGFB2 SLC2A10 FBN1
2 loeys-dietz syndrome 5 31.6 TGFBR2 TGFBR1 TGFB2 FBN1
3 loeys-dietz syndrome 2 31.4 TGFBR2 TGFBR1 MYH11 FBN1
4 loeys-dietz syndrome 1 30.8 TGFBR2 TGFBR1 TGFB2 SLC2A10 MYH11 FBN1
5 inguinal hernia 30.6 FBN1 FBLN5 ELN
6 loeys-dietz syndrome 3 30.3 TGFBR2 TGFBR1 TGFB2 SLC2A10 MYH11 FBN1
7 ehlers-danlos syndrome 29.9 TGFBR1 FLNA FBN1 ELN COL3A1
8 pulmonary fibrosis, idiopathic 29.9 TGFBR1 TGFB2 ELN COL3A1
9 cutis laxa 29.8 LTBP4 FBN1 FBLN5 ELN EFEMP2
10 moyamoya disease 1 29.8 MYH11 ELN ACTA2
11 mitral valve insufficiency 29.7 MYH11 FBN1 ELN
12 brittle bone disorder 29.6 FBN1 ELN COL3A1
13 cleft palate, isolated 29.3 TGFBR2 TGFBR1 TGFB2 FLNA
14 intracranial aneurysm 29.0 TGFBR2 TGFBR1 TGFB2 ELN COL3A1
15 patent ductus arteriosus 1 28.7 TGFBR2 TGFBR1 SLC2A10 MYH11 FLNA FBN1
16 scoliosis 28.6 TGFBR2 TGFB2 LTBP4 FLNA FBN1 FBLN5
17 aortic valve insufficiency 28.5 TGFBR2 TGFBR1 MYH11 FLNA FBN1 ELN
18 marfan syndrome 28.4 TGFBR2 TGFBR1 TGFB2 MYH11 FLNA FBN1
19 connective tissue disease 28.4 TGFBR2 TGFBR1 TGFB2 MYH11 FLNA FBN1
20 aortic disease 28.2 TGFBR2 TGFBR1 TGFB2 MYH11 FBN1 ELN
21 aneurysm 28.0 TGFBR2 TGFBR1 TGFB2 SLC2A10 MYH11 FLNA
22 aortic aneurysm 27.9 TGFBR2 TGFBR1 TGFB2 SLC2A10 MYH11 FLNA
23 aortic dissection 27.9 TGFBR2 TGFBR1 TGFB2 SLC2A10 MYH11 FBN1
24 aortic valve disease 1 27.5 TGFBR2 TGFBR1 TGFB2 SLC2A10 MYH11 FLNA
25 loeys-dietz syndrome 27.3 TGFBR2 TGFBR1 TGFB2 SLC2A10 MYH11 LTBP4
26 retinal arteries, tortuosity of 11.6
27 andersen cardiodysrhythmic periodic paralysis 11.5
28 leiomyomatosis, diffuse, with alport syndrome 11.3
29 amme complex 11.2
30 idiopathic interstitial pneumonia 11.0
31 alport syndrome 1, x-linked 11.0
32 periodic paralysis 10.9
33 atypical timothy syndrome 10.9
34 lung cancer susceptibility 3 10.7
35 adenocarcinoma 10.7
36 adenocarcinoma in situ 10.4
37 pneumonia 10.4
38 autosomal recessive disease 10.3
39 hypermobile ehlers-danlos syndrome 10.3
40 pulmonary fibrosis 10.3
41 meester-loeys syndrome 10.3 SLC2A10 EFEMP2
42 lung disease 10.3
43 late-onset focal dermal elastosis 10.3 FBN1 ELN
44 asthma 10.3
45 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.3 FBN1 ELN
46 keratoconus 10.3
47 acquired cutis laxa 10.3 FBLN5 ELN
48 chronic actinic dermatitis 10.3 FBN1 ELN
49 interstitial lung disease 10.2
50 hemopericardium 10.2 FBN1 ELN

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 86)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congestive heart failure 58 31 hallmark (90%) Very frequent (99-80%) HP:0001635
2 telangiectasia of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0100585
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 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
20 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
21 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
22 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
23 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
24 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
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 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
28 specific learning disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001328
29 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
30 myocardial infarction 58 31 occasional (7.5%) Occasional (29-5%) HP:0001658
31 hypertrophic cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001639
32 dilated cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001644
33 arachnodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001166
34 prematurely aged appearance 58 31 occasional (7.5%) Occasional (29-5%) HP:0007495
35 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
36 hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002827
37 malar flattening 58 31 occasional (7.5%) Occasional (29-5%) HP:0000272
38 blepharophimosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000581
39 redundant skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0001582
40 myocarditis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012819
41 pyloric stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002021
42 coxa valga 58 31 occasional (7.5%) Occasional (29-5%) HP:0002673
43 coxa vara 58 31 occasional (7.5%) Occasional (29-5%) HP:0002812
44 hiatus hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002036
45 keratoconus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000563
46 respiratory failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002878
47 rocker bottom foot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001838
48 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
49 avascular necrosis of the capital femoral epiphysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0005743
50 short palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0012745

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

MGI Mouse Phenotypes related to Arterial Tortuosity Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.15 ACTA2 COL3A1 EFEMP2 FBLN5 FBN1 FLNA
2 cellular MP:0005384 10.02 COL3A1 EFEMP2 FBLN5 FBN1 FLNA LTBP4
3 digestive/alimentary MP:0005381 9.8 COL3A1 FLNA LTBP4 MYH11 TGFB2 TGFBR1
4 integument MP:0010771 9.76 COL3A1 EFEMP2 FBLN5 FBN1 LTBP4 MYH11
5 muscle MP:0005369 9.65 ACTA2 COL3A1 EFEMP2 FBLN5 FBN1 LTBP4
6 respiratory system MP:0005388 9.36 COL3A1 EFEMP2 FBLN5 FBN1 FLNA LTBP4

Drugs & Therapeutics for Arterial Tortuosity Syndrome

Drugs for Arterial Tortuosity Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ezetimibe Approved Phase 3 163222-33-1 150311
2
Atorvastatin Approved Phase 3 134523-00-5 60823
3 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
4 Antimetabolites Phase 3
5 Lipid Regulating Agents Phase 3
6 Anticholesteremic Agents Phase 3
7 Hypolipidemic Agents Phase 3
8 Antibodies Phase 1
9 Immunoglobulins Phase 1
10 Antibodies, Monoclonal Phase 1
11
Levoleucovorin Approved, Investigational 68538-85-2 149436
12
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
13 Nutrients
14 Hematinics
15 Micronutrients
16 Trace Elements
17 Folate
18 Vitamin B Complex
19 Vitamins
20 Vitamin B9

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 3 Randomized, Active-comparator-controlled Clinical Study to Evaluate the Efficacy and Safety of Ezetimibe/Atorvastatin Combination Tablet (MK-0653C) as Second Line Lipid Lowing Treatment in Chinese Participants Active, not recruiting NCT03768427 Phase 3 Atorvastatin;Placebo for FDC EZ/Ator;Placebo for atorvastatin
2 A First-in-human, Multicenter, Open-label, Phase 1 Study in Patients With Advanced Solid Malignancies to Evaluate the Safety of Intravenously Administered ATOR-1017 Recruiting NCT04144842 Phase 1
3 A First-in-human, Multicenter, Open-label, Phase 1 Study in Patients With Advanced and/or Refractory Solid Malignancies to Evaluate the Safety of Intravenously Administered ATOR-1015 Active, not recruiting NCT03782467 Phase 1
4 Folic Acid Handling by the Human Gut: Implications for Food Fortification and Supplementation Completed NCT02135393
5 Correlation Between Myocardial Deformation and Coronary Artery Morphology in Patients With Hypertrophic Cardiomyopathy and Analysis of Genetic Factors:A Prospective, Single-center, Case-control Study Recruiting NCT04830787

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
Heart, Eye, Bone, Brain, Skin, Small Intestine, Endothelial

Publications for Arterial Tortuosity Syndrome

Articles related to Arterial Tortuosity Syndrome:

(show top 50) (show all 307)
# Title Authors PMID Year
1
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. 25 57 61 6
17935213 2008
2
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. 6 61 25 57
16550171 2006
3
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. 57 6 61
26376865 2015
4
Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. 61 6 57
18565096 2008
5
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13. 57 6 61
14569121 2003
6
Arterial tortuosity syndrome: 40 new families and literature review. 25 57 61
29323665 2018
7
Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series. 61 25 6
28726533 2018
8
Arterial tortuosity syndrome: early diagnosis and association with venous tortuosity. 25 6 61
23410549 2013
9
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. 6 25 61
22488877 2012
10
Successful outcome in pregnancy with arterial tortuosity syndrome. 6 25 61
19622975 2009
11
Congenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the SLC2A10 gene. 25 61 57
19508422 2009
12
Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome. 61 6 25
17163528 2007
13
Three new families with arterial tortuosity syndrome. 25 57 61
15529317 2004
14
A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar. 57 6
12801113 2003
15
Artery tortuosity syndrome exhibiting early-onset emphysema with novel compound heterozygous SLC2A10 mutations. 25 6
23494979 2013
16
Ehlers-Danlos syndrome associated with multiple pulmonary artery stenoses and tortuous systemic arteries. 57 25
5352829 1969
17
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. 61 6
25373504 2014
18
Arterial tortuosity syndrome in two Italian paediatric patients. 6 61
19781076 2009
19
A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin. 6 61
18818946 2009
20
A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome. 6 61
18774132 2009
21
Ischemic stroke in an adolescent with arterial tortuosity syndrome. 57 61
16864843 2006
22
A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13. 61 57
15679832 2005
23
Exclusion of candidate genes in a family with arterial tortuosity syndrome. 61 57
15054833 2004
24
Arterial tortuosity syndrome. 61 57
10748415 2000
25
Arterial Tortuosity Syndrome: An Ascorbate Compartmentalization Disorder? 25 61
31621376 2021
26
Arterial Tortuosity Syndrome in a Term Neonate. 61 25
31077662 2019
27
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders. 6
29907982 2018
28
Clinical Variability in Two Macedonian Families with Arterial Tortuosity Syndrome. 25 61
30425910 2018
29
Severe neonatal hypertension revealing arterial tortuosity syndrome. 25 61
29389400 2018
30
Keratoglobus and deep stromal corneal opacification in a case of arterial tortuosity syndrome. 61 25
21484644 2011
31
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. 25 61
20389311 2010
32
Images in cardiovascular medicine. Arterial tortuosity syndrome: phenotypic features and cardiovascular manifestations. 61 25
18541745 2008
33
Valve-sparing aortic root replacement in a patient with a rare connective tissue disorder: arterial tortuosity syndrome. 61 25
17198824 2007
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. 61 25
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
Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection. 25
30071989 2018
40
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
41
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
42
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections. 25
27632686 2017
43
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. 25
22829427 2013
44
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. 25
16685658 2006
45
Mechanisms leading to uniparental disomy and their clinical consequences. 25
10797485 2000
46
Retinal venular tortuosity and fractal dimension predict incident retinopathy in adults with type 2 diabetes: the Edinburgh Type 2 Diabetes Study. 61
33515071 2021
47
Vascular Access for Large Bore Access. 61
33745666 2021
48
PERIPHERAL RETINAL ANGIOGRAPHIC FINDINGS IN MACULAR TELANGIECTASIS TYPE 2. 61
32969983 2021
49
Late Outcomes After Pulmonary Arterial Reconstruction in Patients With Arterial Tortuosity Syndrome. 61
33811889 2021
50
Retinal Phenotyping of Ferrochelatase Mutant Mice Reveals Protoporphyrin Accumulation and Reduced Neovascular Response. 61
33620374 2021

Variations for Arterial Tortuosity Syndrome

ClinVar genetic disease variations for Arterial Tortuosity Syndrome:

6 (show top 50) (show all 247)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC2A10 NC_000020.11:g.(?_46709717)_(46733854_?)del Deletion Pathogenic 583508 GRCh37: 20:45338356-45362493
GRCh38: 20:46709717-46733854
2 SLC2A10 NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter) SNV Pathogenic 467819 rs1015798796 GRCh37: 20:45354323-45354323
GRCh38: 20:46725684-46725684
3 SLC2A10 NC_000020.11:g.(?_46709727)_(46733844_?)del Deletion Pathogenic 833326 GRCh37: 20:45338366-45362483
GRCh38:
4 SLC2A10 NM_030777.4(SLC2A10):c.756C>A (p.Cys252Ter) SNV Pathogenic 161098 rs864309478 GRCh37: 20:45354431-45354431
GRCh38: 20:46725792-46725792
5 SLC2A10 NM_030777.4(SLC2A10):c.417T>A (p.Tyr139Ter) SNV Pathogenic 161095 rs572620317 GRCh37: 20:45354092-45354092
GRCh38: 20:46725453-46725453
6 SLC2A10 NM_030777.4(SLC2A10):c.1334G>A (p.Gly445Glu) SNV Pathogenic 161102 rs753723351 GRCh37: 20:45355548-45355548
GRCh38: 20:46726909-46726909
7 SLC2A10 NM_030777.4(SLC2A10):c.425G>T (p.Gly142Val) SNV Pathogenic 161105 rs864309480 GRCh37: 20:45354100-45354100
GRCh38: 20:46725461-46725461
8 SLC2A10 NM_030777.4(SLC2A10):c.731_734del (p.Leu244fs) Deletion Pathogenic 161107 rs864309481 GRCh37: 20:45354403-45354406
GRCh38: 20:46725764-46725767
9 SLC2A10 NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter) SNV Pathogenic 161096 rs756457861 GRCh37: 20:45354360-45354360
GRCh38: 20:46725721-46725721
10 SLC2A10 NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys) SNV Pathogenic 161100 rs763220502 GRCh37: 20:45355523-45355523
GRCh38: 20:46726884-46726884
11 SLC2A10 NM_030777.4(SLC2A10):c.1411+1G>A SNV Pathogenic 161103 rs864309479 GRCh37: 20:45355626-45355626
GRCh38: 20:46726987-46726987
12 SLC2A10 NM_030777.4(SLC2A10):c.737G>A (p.Gly246Glu) SNV Pathogenic 161108 rs564317065 GRCh37: 20:45354412-45354412
GRCh38: 20:46725773-46725773
13 SLC2A10 NM_030777.4(SLC2A10):c.1411+480_1547+299del Deletion Pathogenic 161099 GRCh37: 20:45356083-45358404
GRCh38: 20:46727444-46729765
14 SLC2A10 NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter) SNV Pathogenic 161101 rs370547023 GRCh37: 20:45355544-45355544
GRCh38: 20:46726905-46726905
15 SLC2A10 NM_030777.4(SLC2A10):c.510G>A (p.Trp170Ter) SNV Pathogenic 4585 rs80358229 GRCh37: 20:45354185-45354185
GRCh38: 20:46725546-46725546
16 SLC2A10 NM_030777.4(SLC2A10):c.961del (p.Val321fs) Deletion Pathogenic 4586 rs587776599 GRCh37: 20:45354636-45354636
GRCh38: 20:46725997-46725997
17 SLC2A10 NM_030777.4(SLC2A10):c.1334del (p.Gly445fs) Deletion Pathogenic 4587 rs587776600 GRCh37: 20:45355547-45355547
GRCh38: 20:46726908-46726908
18 SLC2A10 NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) SNV Pathogenic 4588 rs80358230 GRCh37: 20:45353918-45353918
GRCh38: 20:46725279-46725279
19 SLC2A10 NM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp) SNV Likely pathogenic 4589 rs121908172 GRCh37: 20:45354951-45354951
GRCh38: 20:46726312-46726312
20 SLC2A10 NM_030777.4(SLC2A10):c.1393_1394del (p.Ser465fs) Microsatellite Likely pathogenic 1027638 GRCh37: 20:45355604-45355605
GRCh38: 20:46726965-46726966
21 SLC2A10 NM_030777.4(SLC2A10):c.1288+2T>C SNV Likely pathogenic 656001 rs768848335 GRCh37: 20:45354965-45354965
GRCh38: 20:46726326-46726326
22 FLNA NM_001110556.2(FLNA):c.7023+4A>T SNV Likely pathogenic 523406 rs1557175789 GRCh37: X:153579945-153579945
GRCh38: X:154351577-154351577
23 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
24 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
25 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
26 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
27 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
28 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
29 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
30 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
31 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
32 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
33 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
34 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
35 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
36 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
37 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
38 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
39 SLC2A10 NM_030777.4(SLC2A10):c.920T>A (p.Met307Lys) SNV Uncertain significance 338594 rs768142427 GRCh37: 20:45354595-45354595
GRCh38: 20:46725956-46725956
40 SLC2A10 NM_030777.4(SLC2A10):c.300G>C (p.Trp100Cys) SNV Uncertain significance 338590 rs886056725 GRCh37: 20:45353975-45353975
GRCh38: 20:46725336-46725336
41 SLC2A10 NM_030777.4(SLC2A10):c.322G>A (p.Val108Ile) SNV Uncertain significance 409250 rs373375540 GRCh37: 20:45353997-45353997
GRCh38: 20:46725358-46725358
42 SLC2A10 NM_030777.4(SLC2A10):c.1601G>A (p.Arg534His) SNV Uncertain significance 578495 rs746480018 GRCh37: 20:45362448-45362448
GRCh38: 20:46733809-46733809
43 SLC2A10 NM_030777.4(SLC2A10):c.611G>A (p.Gly204Asp) SNV Uncertain significance 467818 rs1555887956 GRCh37: 20:45354286-45354286
GRCh38: 20:46725647-46725647
44 SLC2A10 NM_030777.4(SLC2A10):c.949G>A (p.Val317Ile) SNV Uncertain significance 1000569 GRCh37: 20:45354624-45354624
GRCh38: 20:46725985-46725985
45 SLC2A10 NM_030777.4(SLC2A10):c.218G>A (p.Gly73Asp) SNV Uncertain significance 1001321 GRCh37: 20:45353893-45353893
GRCh38: 20:46725254-46725254
46 SLC2A10 NM_030777.4(SLC2A10):c.1002T>A (p.Asn334Lys) SNV Uncertain significance 1007900 GRCh37: 20:45354677-45354677
GRCh38: 20:46726038-46726038
47 SLC2A10 NM_030777.4(SLC2A10):c.1014G>C (p.Gln338His) SNV Uncertain significance 391867 rs35833600 GRCh37: 20:45354689-45354689
GRCh38: 20:46726050-46726050
48 SLC2A10 NM_030777.4(SLC2A10):c.1225C>T (p.Arg409Cys) SNV Uncertain significance 213724 rs562212724 GRCh37: 20:45354900-45354900
GRCh38: 20:46726261-46726261
49 SLC2A10 NM_030777.4(SLC2A10):c.119T>C (p.Phe40Ser) SNV Uncertain significance 264055 rs372166877 GRCh37: 20:45353794-45353794
GRCh38: 20:46725155-46725155
50 SLC2A10 NM_030777.4(SLC2A10):c.1415C>T (p.Thr472Ile) SNV Uncertain significance 213739 rs563376340 GRCh37: 20:45357995-45357995
GRCh38: 20:46729356-46729356

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

72
# 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 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.62 TGFBR2 TGFBR1 TGFB2 MYH11 LTBP4 FLNA
2
Show member pathways
13.23 TGFBR2 TGFBR1 TGFB2 MYH11 FBN1 ELN
3
Show member pathways
12.87 TGFBR1 TGFB2 LTBP4 FBN1 ELN EFEMP2
4
Show member pathways
12.76 TGFBR2 TGFBR1 TGFB2 MYH11 ACTA2
5
Show member pathways
12.72 TGFBR2 TGFBR1 TGFB2 SLC2A6 SLC2A11 SLC2A10
6
Show member pathways
12.52 TGFB2 LTBP4 FBN1 FBLN5 ELN EFEMP2
7
Show member pathways
12.51 TGFBR2 TGFBR1 COL3A1 ACTA2
8 11.99 TGFBR2 TGFBR1 TGFB2
9
Show member pathways
11.92 TGFBR2 TGFBR1 TGFB2
10 11.88 TGFBR2 TGFBR1 TGFB2
11 11.81 TGFBR2 TGFBR1 TGFB2 COL3A1
12 11.79 TGFBR2 TGFB2 SLC2A6 SLC2A13 SLC2A11 SLC2A10
13 11.77 TGFBR2 TGFBR1 TGFB2 FBN1
14 11.74 TGFBR2 TGFBR1 TGFB2
15
Show member pathways
11.7 TGFBR2 TGFBR1 TGFB2
16 11.59 TGFBR2 TGFBR1 TGFB2 FLNA ACTA2
17 11.47 SLC2A6 SLC2A11 SLC2A10
18
Show member pathways
11.46 TGFBR2 TGFBR1 TGFB2
19 11.41 TGFBR2 TGFBR1 TGFB2
20 11.19 TGFBR2 TGFBR1 TGFB2
21 10.96 TGFBR2 TGFBR1 FLNA FBN1
22
Show member pathways
10.96 TGFB2 LTBP4 FBN1 FBLN5 ELN EFEMP2
23 10.93 TGFBR2 TGFBR1
24 10.9 TGFB2 LTBP4 FBN1 ELN EFEMP2 COL3A1
25 10.88 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 region GO:0005576 9.92 TGFB2 LTBP4 FLNA FBN1 FBLN5 ELN
2 extracellular space GO:0005615 9.91 TGFB2 LTBP4 FBN1 FBLN5 EFEMP2 COL3A1
3 extracellular matrix GO:0031012 9.63 LTBP4 FBN1 FBLN5 ELN EFEMP2 COL3A1
4 microfibril GO:0001527 9.43 LTBP4 FBN1 EFEMP2
5 collagen-containing extracellular matrix GO:0062023 9.17 TGFB2 LTBP4 FBN1 FBLN5 ELN EFEMP2
6 elastic fiber GO:0071953 9.13 FBLN5 ELN EFEMP2

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.88 FBN1 FBLN5 ELN COL3A1
2 kidney development GO:0001822 9.81 TGFBR1 TGFB2 FBN1
3 skeletal system development GO:0001501 9.78 TGFBR1 TGFB2 FBN1 COL3A1
4 heart development GO:0007507 9.77 TGFBR2 TGFBR1 TGFB2 FBN1 COL3A1
5 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.76 TGFBR2 TGFBR1 SLC2A10
6 wound healing GO:0042060 9.73 TGFBR2 TGFBR1 TGFB2 COL3A1
7 collagen fibril organization GO:0030199 9.72 TGFBR1 TGFB2 COL3A1
8 positive regulation of epithelial to mesenchymal transition GO:0010718 9.71 TGFBR2 TGFBR1 TGFB2
9 epithelial to mesenchymal transition GO:0001837 9.69 TGFBR1 TGFB2 FLNA
10 carbohydrate transport GO:0008643 9.67 SLC2A6 SLC2A11 SLC2A10
11 activin receptor signaling pathway GO:0032924 9.63 TGFBR2 TGFBR1
12 ventricular septum morphogenesis GO:0060412 9.63 TGFBR2 TGFBR1 TGFB2
13 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.62 TGFBR2 TGFBR1
14 secondary palate development GO:0062009 9.62 TGFBR2 TGFB2
15 cardiac epithelial to mesenchymal transition GO:0060317 9.61 TGFBR1 TGFB2
16 ventricular trabecula myocardium morphogenesis GO:0003222 9.61 TGFBR1 TGFB2
17 atrioventricular valve morphogenesis GO:0003181 9.6 TGFBR2 TGFB2
18 response to cholesterol GO:0070723 9.59 TGFBR2 TGFBR1
19 glucose transmembrane transport GO:1904659 9.58 SLC2A6 SLC2A11 SLC2A10
20 dehydroascorbic acid transport GO:0070837 9.57 SLC2A6 SLC2A10
21 membranous septum morphogenesis GO:0003149 9.56 TGFBR2 TGFB2
22 transforming growth factor beta receptor signaling pathway GO:0007179 9.55 TGFBR2 TGFBR1 TGFB2 LTBP4 COL3A1
23 endocardial cushion fusion GO:0003274 9.52 TGFBR2 TGFB2
24 pathway-restricted SMAD protein phosphorylation GO:0060389 9.5 TGFBR2 TGFBR1 TGFB2
25 hexose transmembrane transport GO:0008645 9.43 SLC2A6 SLC2A11 SLC2A10
26 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.13 TGFBR2 TGFBR1 TGFB2
27 elastic fiber assembly GO:0048251 8.92 MYH11 LTBP4 FBLN5 EFEMP2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.73 SLC2A6 SLC2A13 SLC2A11 SLC2A10
2 integrin binding GO:0005178 9.62 LTBP4 FBN1 FBLN5 COL3A1
3 SMAD binding GO:0046332 9.58 TGFBR2 TGFBR1 FLNA
4 activin binding GO:0048185 9.52 TGFBR2 TGFBR1
5 glucose transmembrane transporter activity GO:0005355 9.51 SLC2A6 SLC2A11
6 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.49 TGFBR2 TGFBR1
7 type II transforming growth factor beta receptor binding GO:0005114 9.48 TGFBR1 TGFB2
8 dehydroascorbic acid transmembrane transporter activity GO:0033300 9.46 SLC2A6 SLC2A10
9 transforming growth factor beta binding GO:0050431 9.43 TGFBR2 TGFBR1 LTBP4
10 type III transforming growth factor beta receptor binding GO:0034714 9.37 TGFBR2 TGFB2
11 extracellular matrix constituent conferring elasticity GO:0030023 9.33 FBN1 FBLN5 ELN
12 transforming growth factor beta-activated receptor activity GO:0005024 9.13 TGFBR2 TGFBR1 LTBP4
13 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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