ATS
MCID: ART001
MIFTS: 50

Arterial Tortuosity Syndrome (ATS) malady

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

Aliases & Classifications for Arterial Tortuosity Syndrome

Aliases & Descriptions for Arterial Tortuosity Syndrome:

Name: Arterial Tortuosity Syndrome 54 12 23 50 24 25 56 66 13 14 69
Ats 50 24 25 56 66
Arterial Tortuosity 50 25 66 29

Characteristics:

Orphanet epidemiological data:

56
arterial tortuosity syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

HPO:

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


Classifications:



External Ids:

OMIM 54 208050
Disease Ontology 12 DOID:0050645
Orphanet 56 ORPHA3342
ICD10 via Orphanet 34 I77.1
MedGen 40 C1859726

Summaries for Arterial Tortuosity Syndrome

NIH Rare Diseases : 50 arterial tortuosity syndrome is a disorder that affects connective tissue (a tissue that provides strength and flexibility to structures throughout the body). it is characterized by blood vessel abnormalities, particularly abnormal twists and turns (tortuosity) of the blood vessels that carry blood from the heart to the rest of the body (the arteries). other blood vessel abnormalities that may occur in this disorder include constriction (stenosis) and abnormal bulging (aneurysm) of vessels, as well as small clusters of enlarged blood vessels just under the skin (telangiectasia). other features include: joints that are either loose and very flexible (hypermobile) or that have deformities limiting movement (contractures) soft and stretchable skin long, slender fingers and toes (arachnodactyly) curvature of the spine (scoliosis) sunken chest (pectus excavatum) or protruding chest (pectus carinatum) protrusion of organs through gaps in muscles (hernias) elongation of the intestines or pouches called diverticula in the intestinal walls people with arterial tortuosity syndrome often look older than their age and have distinctive facial features. the cornea, which is the clear front covering of the eye, may be cone-shaped and abnormally thin (keratoconus). arterial tortuosity syndrome is caused by alterations (mutations) in the slc2a10 gene and is inherited in an autosomal recessive fashion. aneurysms and focal stenoses are corrected with surgery. many specialists may be needed for the best management of the disorder. last updated: 2/21/2017

MalaCards based summary : Arterial Tortuosity Syndrome, also known as ats, is related to retinal arteries, tortuosity of and cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk, and has symptoms including joint laxity, hypertelorism and pectus excavatum. An important gene associated with Arterial Tortuosity Syndrome is SLC2A10 (Solute Carrier Family 2 Member 10), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include skin, heart and eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and cardiovascular system

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

Genetics Home Reference : 25 Arterial tortuosity syndrome is a disorder that affects connective tissue. Connective tissue provides strength and flexibility to structures throughout the body, including blood vessels, skin, joints, and the gastrointestinal tract.

UniProtKB/Swiss-Prot : 66 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 : 71 Arterial tortuosity syndrome is a rare congenital connective tissue condition disorder characterized by... more...

Description from OMIM: 208050
GeneReviews: NBK253404

Related Diseases for Arterial Tortuosity Syndrome

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

(show top 50) (show all 133)
id Related Disease Score Top Affiliating Genes
1 retinal arteries, tortuosity of 12.3
2 cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk 11.8
3 pulmonary fungal infections in patients deemed at risk 11.8
4 poliomyelitis in patients with immunodeficiencies deemed at risk 11.8
5 loeys-dietz syndrome 4 11.5
6 ataxia-telangiectasia 11.5
7 atypical teratoid rhabdoid tumor 11.3
8 thrombophilia due to antithrombin iii deficiency 11.3
9 nijmegen breakage syndrome 11.3
10 loeys-dietz syndrome 11.2
11 ceroid lipofuscinosis, neuronal, 1 11.2
12 loeys-dietz syndrome 5 11.1
13 hereditary antithrombin deficiency 11.1
14 loeys-dietz syndrome 1 11.1
15 alport syndrome 11.0
16 andersen syndrome 10.9
17 neural tube defects 10.9
18 loeys-dietz syndrome 3 10.9
19 loeys-dietz syndrome 2 10.9
20 ceroid lipofuscinosis, neuronal, 2 10.8
21 alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis 10.8
22 leiomyomatosis, esophageal and vulval, with nephropathy 10.8
23 intermediate coronary syndrome 10.8
24 neuroblastoma 10.8
25 breast cancer 10.8
26 li-fraumeni syndrome 10.7
27 hydrocephalus 10.7
28 narcolepsy 10.7
29 lupus erythematosus 10.7
30 neurofibromatosis 10.7
31 periventricular leukomalacia 10.7
32 andersen syndrome type 1 10.7
33 ceroid lipofuscinosis, neuronal, 5 10.7
34 genu valgum, st helena familial 10.7
35 ceroid lipofuscinosis, neuronal, 6 10.7
36 duchenne muscular dystrophy 10.7
37 attention deficit-hyperactivity disorder 10.7
38 lymphoma 10.7
39 restless legs syndrome 10.7
40 turner syndrome 10.7
41 chordoma 10.7
42 rickets 10.7
43 diarrhea 10.6
44 lung cancer 10.6
45 megalencephaly 10.6
46 cluster headache 10.6
47 coccidioidomycosis 10.6
48 microcephaly 10.6
49 moyamoya disease 10.6
50 malaria 10.6

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



Diseases related to Arterial Tortuosity Syndrome

Symptoms & Phenotypes for Arterial Tortuosity Syndrome

Symptoms by clinical synopsis from OMIM:

208050

Clinical features from OMIM:

208050

Human phenotypes related to Arterial Tortuosity Syndrome:

32 (show all 33)
id Description HPO Frequency HPO Source Accession
1 joint laxity 32 HP:0001388
2 hypertelorism 32 HP:0000316
3 pectus excavatum 32 HP:0000767
4 high palate 32 HP:0000218
5 hypertension 32 HP:0000822
6 intellectual disability 32 HP:0001249
7 muscular hypotonia 32 HP:0001252
8 inguinal hernia 32 HP:0000023
9 pectus carinatum 32 HP:0000768
10 umbilical hernia 32 HP:0001537
11 flexion contracture 32 HP:0001371
12 long philtrum 32 HP:0000343
13 micrognathia 32 HP:0000347
14 abnormal thrombosis 32 HP:0001977
15 arachnodactyly 32 HP:0001166
16 downslanted palpebral fissures 32 HP:0000494
17 aortic tortuosity 32 HP:0006687
18 long face 32 HP:0000276
19 bruising susceptibility 32 HP:0000978
20 blepharophimosis 32 HP:0000581
21 convex nasal ridge 32 HP:0000444
22 pulmonary artery stenosis 32 HP:0004415
23 hiatus hernia 32 HP:0002036
24 keratoconus 32 HP:0000563
25 congenital diaphragmatic hernia 32 HP:0000776
26 aortic valve stenosis 32 HP:0001650
27 aortic regurgitation 32 HP:0001659
28 cutis laxa 32 HP:0000973
29 ventricular hypertrophy 32 HP:0001714
30 soft, doughy skin 32 HP:0001027
31 ischemic stroke 32 HP:0002140
32 generalized arterial tortuosity 32 HP:0004955
33 telangiectases of the cheeks 32 HP:0007421

UMLS symptoms related to Arterial Tortuosity Syndrome:


joint laxity

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.6 COL5A2 EFEMP2 LTBP4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.6 LTBP4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.6 EFEMP2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.6 COL5A2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.6 COL5A2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.6 LTBP4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.6 EFEMP2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.6 EFEMP2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.6 LTBP4
10 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.6 LTBP4
11 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.6 LTBP4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.6 COL5A2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.6 EFEMP2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.6 LTBP4
15 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.6 EFEMP2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.6 COL5A2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.6 COL5A2

MGI Mouse Phenotypes related to Arterial Tortuosity Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 COL5A1 COL5A2 EFEMP2 LTBP4 SLC2A10 TGFBR1
2 integument MP:0010771 9.35 COL5A1 COL5A2 EFEMP2 LTBP4 TGFBR1
3 respiratory system MP:0005388 9.02 COL5A2 EFEMP2 LTBP4 SLC2A10 TGFBR1

Drugs & Therapeutics for Arterial Tortuosity Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
1 Angio-Seal® vs. Exo-Seal® for Closure of Arterial Puncture Sites Completed NCT01669382 Phase 3
2 Heart Failure and Related Risk-factors After Preeclampsia Recruiting NCT02347540

Search NIH Clinical Center for Arterial Tortuosity Syndrome

Genetic Tests for Arterial Tortuosity Syndrome

Genetic tests related to Arterial Tortuosity Syndrome:

id Genetic test Affiliating Genes
1 Arterial Tortuosity Syndrome 29 24 SLC2A10
2 Arterial Tortuosity 29

Anatomical Context for Arterial Tortuosity Syndrome

MalaCards organs/tissues related to Arterial Tortuosity Syndrome:

39
Skin, Heart, Eye

Publications for Arterial Tortuosity Syndrome

Articles related to Arterial Tortuosity Syndrome:

(show all 50)
id Title Authors Year
1
Arterial Tortuosity Syndrome reveals function of dehydroascorbic acid in collagen and elastin synthesis: Implications for skin care. ( 26826631 )
2016
2
Glucose transporter type 10 - lacking in arterial tortuosity syndrome - facilitates dehydroascorbic acid transport. ( 27153185 )
2016
3
Arterial tortuosity syndrome. ( 27651409 )
2016
4
Clinical utility gene card for: Arterial tortuosity syndrome. ( 25604859 )
2015
5
GLUT10 deficiency leads to oxidative stress and non-canonical I+vI^3 integrin-mediated TGFI^ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts. ( 26376865 )
2015
6
Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review. ( 25373504 )
2014
7
Arterial Tortuosity Syndrome: An Approach through Imaging Perspective. ( 25250193 )
2014
8
Epilepsy as the first presentation of arterial tortuosity syndrome in a young girl: a case report. ( 24848186 )
2014
9
Arterial tortuosity syndrome: early diagnosis and association with venous tortuosity. ( 23410549 )
2013
10
Low-dose CT angiography for evaluation of great vessels and airway in arterial tortuosity syndrome. ( 22790089 )
2012
11
Arterial tortuosity syndrome: case report. ( 23431747 )
2012
12
Giant aortic aneurysm in an infant with arterial tortuosity syndrome. ( 22818336 )
2012
13
Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene. ( 22488877 )
2012
14
Arterial anomalies in arterial tortuosity syndrome: a sour-sweet pathology? ( 22436127 )
2012
15
Cardiovascular findings in a boy with arterial tortuosity syndrome: case report and review of the literature. ( 21534351 )
2011
16
Keratoglobus and deep stromal corneal opacification in a case of arterial tortuosity syndrome. ( 21484644 )
2011
17
Arterial tortuosity syndrome with multiple intracranial aneurysms: a case report. ( 21403023 )
2011
18
Early outcomes of total pulmonary arterial reconstruction in patients with arterial tortuosity syndrome. ( 21704298 )
2011
19
Repair of ascending aortic aneurysm in a patient with arterial tortuosity syndrome. ( 21441255 )
2011
20
Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome. ( 20639396 )
2010
21
Glucose transporter 10 and arterial tortuosity syndrome: the vitamin C connection. ( 20547159 )
2010
22
Successful surgical pulmonary artery reconstruction in arterial tortuosity syndrome. ( 19766840 )
2009
23
Hybrid transcatheter--surgical approach in complex pulmonary artery stenosis due to arterial tortuosity syndrome. ( 19708231 )
2009
24
Arterial tortuosity syndrome. ( 19294457 )
2009
25
A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin. ( 18818946 )
2009
26
Successful outcome in pregnancy with arterial tortuosity syndrome. ( 19622975 )
2009
27
A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome. ( 18774132 )
2009
28
Congenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the SLC2A10 gene. ( 19508422 )
2009
29
Arterial tortuosity syndrome in two Italian paediatric patients. ( 19781076 )
2009
30
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. ( 17935213 )
2008
31
Hybrid approach in a case of arterial tortuosity syndrome. ( 18467428 )
2008
32
Prenatal diagnosis of arterial tortuosity syndrome. ( 18792060 )
2008
33
Arterial tortuosity syndrome: A rare entity. ( 20300242 )
2008
34
Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. ( 18565096 )
2008
35
Images in cardiovascular medicine. Arterial tortuosity syndrome: phenotypic features and cardiovascular manifestations. ( 18541745 )
2008
36
Hybrid transcatheter-surgical strategy in arterial tortuosity syndrome. ( 19049778 )
2008
37
Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome. ( 17163528 )
2007
38
Valve-sparing aortic root replacement in a patient with a rare connective tissue disorder: arterial tortuosity syndrome. ( 17198824 )
2007
39
Familial arterial tortuosity syndrome. ( 19122253 )
2007
40
Ischemic stroke in an adolescent with arterial tortuosity syndrome. ( 17485657 )
2007
41
Images in cardiology. Arterial tortuosity syndrome in a newborn. ( 16365344 )
2006
42
Ischemic stroke in an adolescent with arterial tortuosity syndrome. ( 16864843 )
2006
43
Cardiovascular findings in arterial tortuosity syndrome. ( 16554311 )
2006
44
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. ( 16550171 )
2006
45
A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13. ( 15679832 )
2005
46
Exclusion of candidate genes in a family with arterial tortuosity syndrome. ( 15054833 )
2004
47
Three new families with arterial tortuosity syndrome. ( 15529317 )
2004
48
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13. ( 14569121 )
2003
49
Arterial tortuosity syndrome. ( 10748415 )
2000
50
Arterial Tortuosity Syndrome ( 25392904 )
1993

Variations for Arterial Tortuosity Syndrome

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

66
id Symbol AA change Variation ID SNP ID
1 SLC2A10 p.Ser81Arg VAR_029535 rs80358230
2 SLC2A10 p.Arg132Trp VAR_042417 rs121908173
3 SLC2A10 p.Gly142Val VAR_042418 rs864309480
4 SLC2A10 p.Arg231Gln VAR_042420 rs771028960
5 SLC2A10 p.Gly246Glu VAR_042421 rs564317065
6 SLC2A10 p.Gly426Trp VAR_042422 rs121908172
7 SLC2A10 p.Glu437Lys VAR_042423 rs763220502
8 SLC2A10 p.Gly445Glu VAR_042424 rs753723351

ClinVar genetic disease variations for Arterial Tortuosity Syndrome:

6 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC2A10 NM_030777.3(SLC2A10): c.510G> A (p.Trp170Ter) single nucleotide variant Pathogenic rs80358229 GRCh37 Chromosome 20, 45354185: 45354185
2 SLC2A10 NM_030777.3(SLC2A10): c.961delG (p.Val321Cysfs) deletion Pathogenic rs587776599 GRCh37 Chromosome 20, 45354636: 45354636
3 SLC2A10 NM_030777.3(SLC2A10): c.1334delG (p.Gly445Glufs) deletion Pathogenic rs587776600 GRCh37 Chromosome 20, 45355548: 45355548
4 SLC2A10 NM_030777.3(SLC2A10): c.243C> G (p.Ser81Arg) single nucleotide variant Pathogenic rs80358230 GRCh37 Chromosome 20, 45353918: 45353918
5 SLC2A10 NM_030777.3(SLC2A10): c.1276G> T (p.Gly426Trp) single nucleotide variant Pathogenic rs121908172 GRCh37 Chromosome 20, 45354951: 45354951
6 SLC2A10 NM_030777.3(SLC2A10): c.394C> T (p.Arg132Trp) single nucleotide variant Pathogenic rs121908173 GRCh37 Chromosome 20, 45354069: 45354069
7 SLC2A10 NM_030777.3(SLC2A10): c.417T> A (p.Tyr139Ter) single nucleotide variant Pathogenic rs572620317 GRCh37 Chromosome 20, 45354092: 45354092
8 SLC2A10 NM_030777.3(SLC2A10): c.425G> T (p.Gly142Val) single nucleotide variant Pathogenic rs864309480 GRCh37 Chromosome 20, 45354100: 45354100
9 SLC2A10 NM_030777.3(SLC2A10): c.685C> T (p.Arg229Ter) single nucleotide variant Pathogenic rs756457861 GRCh37 Chromosome 20, 45354360: 45354360
10 SLC2A10 NM_030777.3(SLC2A10): c.691C> T (p.Arg231Trp) single nucleotide variant Pathogenic rs146579504 GRCh37 Chromosome 20, 45354366: 45354366
11 SLC2A10 NM_030777.3(SLC2A10): c.692G> A (p.Arg231Gln) single nucleotide variant Pathogenic/Likely pathogenic rs771028960 GRCh37 Chromosome 20, 45354367: 45354367
12 SLC2A10 NM_030777.3(SLC2A10): c.730_733delCTAA (p.Leu244Glnfs) deletion Pathogenic rs864309481 GRCh37 Chromosome 20, 45354405: 45354408
13 SLC2A10 NM_030777.3(SLC2A10): c.737G> A (p.Gly246Glu) single nucleotide variant Pathogenic rs564317065 GRCh37 Chromosome 20, 45354412: 45354412
14 SLC2A10 NM_030777.3(SLC2A10): c.756C> A (p.Cys252Ter) single nucleotide variant Pathogenic rs864309478 GRCh37 Chromosome 20, 45354431: 45354431
15 SLC2A10 NM_030777.3(SLC2A10): c.1309G> A (p.Glu437Lys) single nucleotide variant Pathogenic rs763220502 GRCh38 Chromosome 20, 46726884: 46726884
16 SLC2A10 NM_030777.3(SLC2A10): c.1330C> T (p.Arg444Ter) single nucleotide variant Pathogenic rs370547023 GRCh38 Chromosome 20, 46726905: 46726905
17 SLC2A10 NM_030777.3(SLC2A10): c.1334G> A (p.Gly445Glu) single nucleotide variant Pathogenic rs753723351 GRCh38 Chromosome 20, 46726909: 46726909
18 SLC2A10 NM_030777.3(SLC2A10): c.1411+1G> A (p.Val430_I470del) single nucleotide variant Pathogenic rs864309479 GRCh38 Chromosome 20, 46726987: 46726987
19 SLC2A10 NM_030777.3(SLC2A10): c.1411+480_1547+299del (p.Gly471_Arg515delXfs) deletion Pathogenic GRCh38 Chromosome 20, 46727466: 46729787

Expression for Arterial Tortuosity Syndrome

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

Pathways for Arterial Tortuosity Syndrome

GO Terms for Arterial Tortuosity Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.33 COL5A1 COL5A2 LTBP4
2 collagen trimer GO:0005581 9.32 COL5A1 COL5A2
3 basement membrane GO:0005604 9.26 COL5A1 EFEMP2
4 extracellular matrix GO:0031012 9.13 COL5A1 COL5A2 LTBP4
5 collagen type V trimer GO:0005588 8.62 COL5A1 COL5A2

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

id Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta receptor signaling pathway GO:0007179 9.37 LTBP4 TGFBR1
2 collagen catabolic process GO:0030574 9.32 COL5A1 COL5A2
3 skin development GO:0043588 9.26 COL5A1 COL5A2
4 eye morphogenesis GO:0048592 9.16 COL5A1 COL5A2
5 negative regulation of endodermal cell differentiation GO:1903225 8.96 COL5A1 COL5A2
6 collagen fibril organization GO:0030199 8.8 COL5A1 COL5A2 TGFBR1

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

id Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.37 COL5A1 LTBP4
2 SMAD binding GO:0046332 9.32 COL5A2 TGFBR1
3 growth factor binding GO:0019838 9.26 LTBP4 TGFBR1
4 transforming growth factor beta binding GO:0050431 9.16 LTBP4 TGFBR1
5 transforming growth factor beta-activated receptor activity GO:0005024 8.96 LTBP4 TGFBR1
6 extracellular matrix structural constituent GO:0005201 8.8 COL5A1 COL5A2 EFEMP2

Sources for Arterial Tortuosity Syndrome

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