TA
MCID: TKY001
MIFTS: 65

Takayasu's Arteritis (TA) malady

Cardiovascular, Nephrological, Respiratory, Bone, Fetal, Endocrine categories

Summaries for Takayasu's Arteritis

Sources:
8Disease Ontology, 43NIH Rare Diseases, 47OMIM, 33MalaCards
See all sources

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NIH Rare Diseases:43 Takayasu arteritis is a condition that causes inflammation of the main blood vessel that carries blood from the heart to the rest of the body (aorta) and its associated branched blood vessels. as a result of the inflammation, the blood vessel walls become thick and make it difficult for blood to flow. over time, impaired blood flow causes damage to the heart and various other organs of the body.  although the cause remains unknown, takayasu arteritis appears to be an autoimmune condition, in which cells that fight infection and disease are wrongly targeted against the body's own tissues. last updated: 11/3/2013

MalaCards: Takayasu's Arteritis, also known as takayasu arteritis, is related to antiphospholipid syndrome and thyroiditis, and has symptoms including seizures/epilepsy/absences/spasms/status epilepticus, hyperhidrosis/increased sweating and feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia. An important gene associated with Takayasu's Arteritis is HLA-B (major histocompatibility complex, class I, B), and among its related pathways are Malaria and Legionellosis. The drug alprostadil and the compounds endotoxin and stresson have been mentioned in the context of this disorder. Affiliated tissues include skin, spinal cord and kidney, and related mouse phenotypes are renal/urinary system and tumorigenesis.

Disease Ontology:8 A syndrome that involves inflammation of the aorta that carries blood from the heart to the rest of the body.

Description from OMIM:47 207600

Aliases & Classifications for Takayasu's Arteritis

Sources:
8Disease Ontology, 43NIH Rare Diseases, 49Orphanet, 47OMIM, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Cardiovascular, Nephrological, Respiratory, Bone, Endocrine


Characteristics (Orphanet epidemiological data):

49
takayasu arteritis:
Inheritance: Sporadic; Prevalence: 1-9/1000000; Age of onset: Adulthood
aortic arch defects:
Inheritance: Sporadic; Age of onset: Childhood


Aliases & Descriptions:

takayasu's arteritis 8
takayasu arteritis 43 49 47 61
aortic arch syndrome 8 43
idiopathic aortitis 8 61
thyroid hormone plasma membrane transport defect 61
takayasu's disease& pulseless 8
young female arteritis 43
aortic arch syndromes 61
aortic arch arteritis 8
aortic arches defect 43
aortic arch defects 49
takayasu's disease 8
pulseless disease 43
takayasu disease 43
ta 43


External Ids:

Disease Ontology8 DOID:2508
OMIM47 207600
NCIt40 C34391
MeSH35 D001015
MESH via Orphanet36 D013625
ICD10 via Orphanet26 M31.4, Q25.4
SNOMED-CT via Orphanet58 239937004, 359789008
UMLS via Orphanet62 C0039263
ICD1025 M31.4

Related Diseases for Takayasu's Arteritis

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Takayasu's Arteritis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 249)
idRelated DiseaseScoreTop Affiliating Genes
1antiphospholipid syndrome30.4CD40LG
2thyroiditis30.1PTPN22
3tuberculosis30.1IL12B, HP, MYD88, LBR
4systemic lupus erythematosus30.1PDCD1, TNFSF4, LBR, C4BPA, CD40LG, IL12B
5vasculitis30.1TNFSF4, HLA-B, CD40LG
6adenoma29.8TNFSF8, HLA-B
7atherosclerosis29.8MMP3, IL12B, HP, CD40LG, MYD88, ITGA2B
8thyroid hormone plasma membrane transport defect10.6
9renovascular hypertension10.5
10arc syndrome10.4
11cerebral arteritis10.4
12cerebral aneurysms10.4
13gilbert syndrome10.4
14patent foramen ovale10.4
15glanzmann's thrombasthenia10.4
16atrioventricular septal defect10.4
17congenital diaphragmatic hernia10.4
18atrial heart septal defect10.4
19urea cycle disorder10.4
20hereditary folate malabsorption10.4
21zap70-related severe combined immunodeficiency10.4
22acro-pectoro-renal field defect10.4
23ankle defects short stature10.4
24axial mesodermal dysplasia spectrum10.4
25branchial arch defects10.4
26cardioskeletal syndrome kuwaiti type10.4
27sacral defect with anterior meningocele10.4
28caudal regression syndrome10.4
29chylomicron retention disease10.4
30x-linked creatine deficiency10.4
31cystinosis, ocular nonnephropathic10.4
32hmg coa lyase deficiency10.4
33imerslund-grasbeck syndrome10.4
34defective apolipoprotein b-10010.4
35diaphragmatic hernia upper limb defects10.4
36peroxisome disorders10.4
37heart defect, tongue hamartoma and polysyndactyly10.4
38hermansky pudlak syndrome 210.4
39heterotaxy10.4
40red cell phospholipid defect with hemolysis10.4
41hyperthermia induced defects10.4
42lateral body wall defect10.4
43laterality defects dominant10.4
44limb reduction defect10.4
45overgrowth radial ray defect arthrogryposis10.4
46paraomphalocele10.4
47reductional transverse limb defects10.4
48renal agenesis meningomyelocele mullerian defect10.4
49trigonomacrocephaly tibial defect polydactyly10.4
50thyroid hormonogenesis defect i10.4

Graphical network of the top 20 diseases related to Takayasu's Arteritis:



Diseases related to takayasu's arteritis

Clinical Features for Takayasu's Arteritis

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

207600

Clinical synopsis from OMIM:

207600

Symptoms:

49 (show all 48)
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hyperhidrosis/increased sweating
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • apnea/sleep apnea
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • chronic arterial hypertension
  • muscle weakness/flaccidity
  • repeat respiratory infections
  • arthritis/synovitis/synovial proliferation
  • obnubilation/coma/lethargia/desorientation
  • visual loss/blindness/amblyopia
  • asthenia/fatigue/weakness
  • retinopathy
  • fever/chilling
  • articular/joint pain/arthralgia
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • cardiomyopathy/hypertrophic/dilated
  • anaemia
  • chronic skin infection/ulcerations/ulcers/cancrum
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • cardiac valvulopathy
  • thoracic/chest pain
  • gangrena/necrosis
  • myalgia/muscular pain
  • respiratory rhythm disorder
  • angor pectoris/myocardial infarction
  • pulmonary hypertension
  • insterstitial/subtelomeric microdeletion/deletion
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • facial pain/cephalalgia/migraine
  • transient cerebral ischemia/stroke
  • transient amaurosis/acute visual trouble
  • anorexia
  • aortic valve atresia/stenosis/narrowing/supra-aortic/supra-valvular stenosis
  • endocardium anomalies/fibroelastosis/endocarditis
  • aortic root dilatation/dilation/aneurysm
  • arterial aneurism (excluding aorta)
  • asthma/bronchospasm
  • acute arterial hypertension/hypertensive crisis
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • vascularitis/vasculitides/arteritis
  • arterial stenosis/occlusion
  • hemoptysis
  • mesenteric/intestinal infarction
  • arterial pulse abolition
  • acute ischemic syndrome

Drugs & Therapeutics for Takayasu's Arteritis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Takayasu's Arteritis

Drug clinical trials:

Search ClinicalTrials for Takayasu's Arteritis

Search NIH Clinical Center for Takayasu's Arteritis

Search CenterWatch for Takayasu's Arteritis

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Takayasu's Arteritis

Anatomical Context for Takayasu's Arteritis

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Takayasu's Arteritis:

33
Skin, Spinal cord, Kidney, Lung, Whole blood, Heart, Small intestine, Thyroid, T cells, B cells, Endothelial

Animal Models for Takayasu's Arteritis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Takayasu's Arteritis

Sources:
51PubMed
See all sources

Articles related to Takayasu's Arteritis:

(show top 50)    (show all 250)
idTitleAuthorsYear
1
A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis? (22821420)
2013
2
Development of a colour Doppler ultrasound scoring system in patients of Takayasu's arteritis and its correlation with clinical activity score (ITAS 2010). (24014648)
2013
3
Clinical and vascular features of Takayasu arteritis at the time of ischemic stroke. (24435029)
2013
4
Takayasu's arteritis and its role in causing renal artery stenosis. (23462245)
2013
5
Emergency renal artery stenting in acute anuric renal failure in children with Takayasu's arteritis. (24206884)
2013
6
Spontaneous Coronary Artery Dissection in a Male Patient with Takayasu's Arteritis and Antiphospholipid Antibody Syndrome. (23956914)
2013
7
Comparison of F18-FDG PET/CT findings with current clinical disease status in patients with Takayasu's arteritis. (23075530)
2013
8
Role of FDG-PET/CT in diagnosis of aortitis caused by Takayasu arteritis and IgG4-related systemic disease--the author's reply. (23945171)
2013
9
Self-reactivity against stress-induced cell molecules: the missing link between Takayasu's arteritis and tuberculosis? (22285197)
2012
10
Detection of IS6110 and HupB gene sequences of Mycobacterium tuberculosis and bovis in the aortic tissue of patients with Takayasu's arteritis. (22905864)
2012
11
Takayasu's arteritis mimicking Kawasaki disease in 7-month-old infant, successfully treated with glucocorticosteroids and intravenous immunoglobulins. (20473497)
2012
12
Takayasu's arteritis progression on anti-TNF biologics: a case series. (21221688)
2011
13
Outcomes after endovascular treatment of symptomatic patients with Takayasu's arteritis. (21696668)
2011
14
A case of Takayasu's arteritis associated with human leukocyte antigen A24 and B52 following resolution of ulcerative colitis and subacute thyroiditis. (21245641)
2011
15
Unusual presentation of Takayasu's arteritis as posterior reversible encephalopathy syndrome. (22028540)
2011
16
Diagnostic value of 3D contrast-enhanced magnetic resonance angiography in Takayasu's arteritis--a comparative study with digital subtraction angiography. (21344303)
2011
17
Pregnancy in Takayasu's arteritis with bilateral renal artery and abdominal aorta stents. (20522083)
2010
18
Successful Percutaneous Renal Artery Angioplasty and Stenting for Acute Oliguric Renal Failure in a Solitary Functioning Kidney Caused by Takayasu's Arteritis. (20830257)
2010
19
Long-term outcome of drug-eluting stent for coronary artery stenosis in Takayasu's arteritis. (20466445)
2010
20
Stenosis of the main stem of the left coronary artery in a teenager with Takayasu's arteritis. (19849872)
2009
21
Percutaneous transluminal angioplasty and stenting for pulmonary stenosis due to Takayasu's arteritis: clinical outcome and four-year follow-up. (19938051)
2009
22
Reoperation for aortic valve stenosis due to severe calcification of the bioprosthetic valve after modified Bentall operation in Takayasu arteritis. (18378027)
2009
23
Soluble endothelial cell adhesion molecules and their relationship to disease activity in Takayasu's arteritis. (18597403)
2008
24
Ostial stenosis of the left coronary artery in Takayasu's arteritis detected by multislice computed tomography. (18173817)
2008
25
Abnormal collateral arterial systems in Takayasu's arteritis and Leriche's syndrome evaluated by whole body acquisition using multislice computed tomography. (17156865)
2007
26
Takayasu's arteritis with ostial and left main coronary artery stenosis. (18172534)
2007
27
Posterior scleritis: an ominous sign of occult Takayasu's arteritis. (17947280)
2007
28
Surgical management of Takayasu's arteritis. (16479059)
2006
29
Successful coronary revascularization using the PAS-Port system in a patient with Takayasu's arteritis and Behcet's disease. (17062268)
2006
30
Successful management of left main coronary artery stenosis with a paclitaxel-eluting stent in Takayasu's arteritis. (16516707)
2006
31
Surgical treatment of atypical aortic coarctation complicating Takayasu's arteritis--experience with 33 cases over 44 years. (15874922)
2005
32
Sensorineural hearing loss combined with Takayasu's arteritis. (15750272)
2005
33
Endovascular stent implantation for severe pulmonary artery stenosis in aortoarteritis (Takayasu's arteritis). (14755829)
2004
34
Impact of multislice CT on coronary ostial stenosis in Takayasu's arteritis. (14729775)
2004
35
Horner's syndrome as an initial manifestation of Takayasu's arteritis. (12810438)
2003
36
Small vessel vasculitis in Takayasu's arteritis. (17041413)
2002
37
Epidural anaesthesia for arthroscopic knee surgery in a patient with Takayasu's arteritis. (12113618)
2002
38
Is a ventilation-perfusion mismatch in a lung scan always a sign of pulmonary embolism? A propA^s a case of Takayasu's arteritis. (12100336)
2002
39
Successful treatment in a patient with Takayasu's arteritis and Marfan syndrome. (12238861)
2002
40
Case 6/2001 - The patient is an 11-year-old girl with Takayasu's arteritis and heart failure (Instituto do CoraAsALo do Hospital das ClA-nicas - FMUSP - SALo Paulo). (11799433)
2001
41
Bilateral ostial coronary artery stenoses: an important presentation of Takayasu's arteritis. (11303009)
2001
42
Surgical treatment of Takayasu's arteritis. (10980350)
2000
43
Study of Takayasu's arteritis in children: clinical profile and management. (10855069)
2000
44
Surgical considerations of occlusive lesions associated with Takayasu's arteritis. (10793496)
2000
45
A surgically treated case of Takayasu's arteritis complicated by aortic dissections localized in the ascending and abdominal aortae. (10805898)
2000
46
Takayasu's arteritis with renovascular hypertension: results of surgical treatment. (10519671)
1999
47
Takayasu's arteritis on steroid therapy. Seven years follow-up. (10705719)
1999
48
AA amyloidosis in Takayasu's arteritis--long-term survival on maintenance haemodialysis. (10528678)
1999
49
Takayasu's arteritis and antiphospholipid antibody syndrome in pregnancy. (12179674)
1998
50
Successful pregnancy and long-term follow-up (12 years) in a patient with Takayasu arteritis and renovascular hypertension as a first clinical sign. (9247789)
1997

Genetic Variations for Takayasu's Arteritis

Expression for genes affiliated with Takayasu's Arteritis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Takayasu's Arteritis

Search GEO for disease gene expression data for Takayasu's Arteritis.

Pathways for genes affiliated with Takayasu's Arteritis

Sources:
30KEGG, 12EMD Millipore, 52QIAGEN, 56SinoBiological, 53R&D Systems, 54Reactome
See all sources

Pathways related to Takayasu's Arteritis according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4MYD88
210.2MYD88, IL12B, IL12A
310.2IL12A, IL12B, MYD88
4
Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway
Hide members
10.2CD40LG, TNFSF4, TNFSF8
5
Hide members
10.1IL12A, IL12B, MYD88, HLA-B
6
Hide members
10.1IL12A, IL12B, CD40LG, HLA-B
710.1C4BPA, MYD88, IL12B, IL12A
8
Hide members
10.1MYD88, CD40LG, IL12B, IL12A
9
Hide members
10.1TNFSF8, TNFSF4, TNFSF9, IL12A
10
Hide members
10.0CD40LG, TNFSF9, TNFSF4, TNFSF8
11
Hide members
9.9TNFSF8, TNFSF4, TNFSF9, ITGA2B, IL12B, IL12A
12
Hide members
9.9IL12A, IL12B, MYD88, TNFSF9, TNFSF4, TNFSF8
13
Hide members
9.8TNFSF8, TNFSF4, TNFSF9, IL12B, IL12A, PTPN22
14
Hide members
9.8PDCD1, C4BPA, HLA-B, MYD88, MICA, CD40LG
15
Hide members
9.8TNFSF8, TNFSF4, TNFSF9, ITGA2B, MYD88, IL12B

Compounds for genes affiliated with Takayasu's Arteritis

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 24HMDB, 60Tocris Bioscience
See all sources

Compounds related to Takayasu's Arteritis according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1endotoxin4510.8MYD88
2stresson4510.6TTR, CD40LG
3lipoteichoic acid4510.5IL12B, MYD88, HLA-B
4dexamethasone45 50 29 1113.5CD40LG, LBR
5rantes4510.5IL12B, CD40LG, HLA-B, LBR
6tuberculin4510.5HP, CD40LG, LBR
7ursodeoxycholic acid45 11 2412.4CD40LG, HLA-B, LBR
8sulfasalazine45 29 50 1113.4CD40LG, HP, IL12B, MMP3
9serine4510.4MMP3, HP, ITGA2B, HLA-B
10ribavirin45 50 1112.4LBR, HLA-B, CD40LG, HP
11pentoxifylline45 1111.4LBR, HP, IL12B
12neopterin4510.4TTR, HP, CD40LG, LBR
13carbohydrates4510.3TTR, HP, CD40LG, HLA-B
14vitamin b124510.3CD40LG, HP, TTR
15hyaluronic acid45 2411.3CD40LG, HP, MMP3, TTR
16glucose4510.3MLX, LBR
17polyacrylamide4510.3HLA-B, TRD, HP, IL12B, TTR
18vitamin d4510.3LBR, HP, IL12B, MMP3, TTR
19cyclosporin a45 29 6012.2LBR, HLA-B, CD40LG, HP, MMP3, TTR
20fibrinogen4510.2C4BPA, HLA-B, ITGA2B, CD40LG, HP, TTR
21epinephrine45 11 2412.2TTR, HP, CD40LG, LBR
22ascorbic acid45 2411.2CD40LG, HP, MMP3, TTR
23vitamin-e4510.2LBR, HP, TTR
24pneumococcal4510.2CD40LG, HLA-B
25methionine4510.2TTR, MMP3, HP, LBR
26lactate4510.2C4BPA, HLA-B, CD40LG, HP, MMP3, TTR
27creatinine4510.2TTR, MMP3, HP, CD40LG, HLA-B
28heparin45 29 11 2413.1LBR, C4BPA, CD40LG, HP, MMP3, CFHR1
29sodium dodecylsulfate4510.1TTR, IL12B, HP
30cholesterol45 29 11 2413.1LBR, C4BPA, HLA-B, HP, MMP3, TTR
31cysteine459.9LBR, ITGA2B, CD40LG, HP, MMP3, TTR
32testosterone45 60 11 2412.6LBR, HLA-B, CD40LG, HP, TTR

GO Terms for genes affiliated with Takayasu's Arteritis

Sources:
16Gene Ontology
See all sources

Cellular components related to Takayasu's Arteritis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1interleukin-12 complexGO:04351410.0IL12B, IL12A
2integral to plasma membraneGO:0058879.9CD40LG, MICA, ITGA2B, HLA-B, TNFSF4, TNFSF8
3extracellular spaceGO:0056159.2CFHR1, TNFSF8, TNFSF4, TNFSF9, MICA, CD40LG

Biological processes related to Takayasu's Arteritis according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of tyrosine phosphorylation of Stat4 proteinGO:04252010.6IL12A, IL12B
2positive regulation of NK T cell activationGO:05113510.5IL12B, IL12A
3positive regulation of T cell mediated cytotoxicityGO:00191610.5HLA-B, IL12B, IL12A
4positive regulation of memory T cell differentiationGO:04338210.5TNFSF4, IL12B
5negative regulation of interleukin-17 productionGO:03270010.5IL12A, IL12B, TNFSF4
6positive regulation of lymphocyte proliferationGO:05067110.5IL12B, IL12A
7positive regulation of interferon-gamma productionGO:03272910.5TNFSF4, IL12B, IL12A
8positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell targetGO:00286010.5IL12B, IL12A
9positive regulation of interleukin-12 productionGO:03273510.5IL12B, CD40LG, TNFSF4
10defense response to Gram-positive bacteriumGO:05083010.5IL12A, MYD88, TNFSF8
11positive regulation of natural killer cell activationGO:03281610.5IL12A, IL12B
12positive regulation of smooth muscle cell apoptotic processGO:03439310.4IL12A, IL12B
13response to UV-BGO:01022410.4IL12B, IL12A
14positive regulation of interleukin-17 productionGO:03274010.3IL12B, MYD88
15defense response to protozoanGO:04283210.2IL12B, IL12A
16immune responseGO:00695510.1IL12A, HLA-B, TNFSF9, TNFSF8
17positive regulation of interleukin-10 productionGO:03273310.0TNFSF4, IL12B

Molecular functions related to Takayasu's Arteritis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor bindingGO:00510210.1HLA-B, TNFSF9, TNFSF4, TNFSF8
2interleukin-12 receptor bindingGO:00514310.0IL12A, IL12B
3tumor necrosis factor receptor bindingGO:0051649.9TNFSF8, TNFSF4, TNFSF9, CD40LG
4cytokine activityGO:0051259.8IL12A, IL12B, CD40LG, TNFSF9, TNFSF4, TNFSF8

Products for genes affiliated with Takayasu's Arteritis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Takayasu's Arteritis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet