TAO
MCID: BRG013
MIFTS: 53

Buerger Disease (TAO) malady

Categories: Rare diseases, Cardiovascular diseases, Nephrological diseases, Bone diseases, Blood diseases

Aliases & Classifications for Buerger Disease

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Aliases & Descriptions for Buerger Disease:

Name: Buerger Disease 52 48 54 50 35
Thromboangiitis Obliterans 35 11 48 54 39 13 68
Buerger's Disease 11 48
Inflammatory Occlusive Peripheral Vascular Disease 48
 
Occlusive Peripheral Vascular Disease 48
Thromboangiitis Obliterans Nos 11
Presenile Gangrene 11
Tao 48

Characteristics:

Orphanet epidemiological data:

54
thromboangiitis obliterans:
Prevalence: 1-5/10000 (Worldwide),1-5/10000 (Europe); Age of onset: Adult; Age of death: normal life expectancy

HPO:

64
buerger disease:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 211480
Disease Ontology11 DOID:12918
ICD1030 I73.1
ICD9CM32 443.1
MeSH39 D013919
NCIt45 C35070
Orphanet54 ORPHA36258
ICD10 via Orphanet31 I73.1

Summaries for Buerger Disease

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NIH Rare Diseases:48 Buerger disease is a disease of the arteries and veins in the arms and legs. the arteries and veins become inflamed which can lead to narrowed and blocked vessels. this reduces blood flow resulting in pain and eventually damage to affected tissues. buerger disease nearly always occurs in association with cigarette or other tobacco use. quitting all forms of tobacco is an essential part of treatment. last updated: 6/16/2015

MalaCards based summary: Buerger Disease, also known as thromboangiitis obliterans, is related to subclavian artery aneurysm and atherosclerosis, and has symptoms including Array, Array and Array. An important gene associated with Buerger Disease is APOH (Apolipoprotein H), and among its related pathways are Thromboxane A2 receptor signaling and Cell adhesion_Cell-matrix glycoconjugates. The drugs isoxsuprine and isoxsuprine hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and spinal cord, and related mouse phenotypes are respiratory system and homeostasis/metabolism.

Wikipedia:71 Thromboangiitis obliterans, also known as Buerger disease (English /bɜːrɡər/, German... more...

Description from OMIM:52 211480

Related Diseases for Buerger Disease

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Diseases related to Buerger Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 107)
idRelated DiseaseScoreTop Affiliating Genes
1subclavian artery aneurysm10.2NOS3, SERPINE1
2atherosclerosis10.2APOH, SELE
3cetp-related hyperalphalipoproteinemia10.2SELE, SERPINE1
4midline cystocele10.2F2, SERPINE1
5neuroaxonal dystrophy10.2F2, SERPINE1
6landau-kleffner syndrome10.2APOH, F2
7hendra virus infection10.1APOH, F2
8may-hegglin anomaly10.1APOH, F2
9craniopharyngioma10.1SELE, SERPINE1
10prostatitis10.1APOH, F2
11esotropia10.1APOH, SELE
12angiomyoma10.1MMP3, PLAU
13microphthalmia, isolated, with coloboma 1010.1PLAU, SERPINE1
14intestinal disaccharidase deficiency10.1APOH, F2
15xerophthalmia10.1F2, SERPINE1
16intracranial cysts10.1MTHFR, NOS3
17kartagener syndrome10.1MTHFR, NOS3
18czech dysplasia10.1APOH, SELE, SERPINE1
19absence of innominate vein10.1MTHFR, SERPINE1
20neutropenia10.1MTHFR, SERPINE1
21thyroid cancer, anaplastic10.1APOH, SELE, SERPINE1
22aminoaciduria10.1MTHFR, SERPINE1
23lymphocytic colitis10.1APOH, F2, SERPINE1
24autoimmune disease of central nervous system10.0APOH, F2, SERPINE1
25ischemic optic neuropathy10.0APOH, F2, SERPINE1
26lung cancer10.0APOH, MTHFR
27meckel syndrome 1010.0NOS3, PLAU
28thyroiditis10.0
29periosteal chondrosarcoma10.0F2, SELE, SERPINE1
30hypertrichosis10.0APOH, MTHFR
31chromosomal disease10.0F2, SERPINE1
32congenital chloride diarrhea10.0F2, SELE, SERPINE1
33arcus senilis10.0MTHFR, SERPINE1
34pemphigus vulgaris, familial10.0HLA-B, MMP3, SELE
35scn8a-related epilepsy with encephalopathy10.0F2, MTHFR
36molybdenum cofactor deficiency a10.0HLA-B, MMP3, SELE
37keratoconus10.0MMP3, PLAU
38porphyria10.0F2, MTHFR
39mixed epithelial tumor of ovary10.0F2, MTHFR
40sydenham chorea10.0F2, NOS3, SERPINE1
41loiasis10.0PLAU, SERPINE1
42photosensitive epilepsy10.0F2, MTHFR
43pregnancy loss, recurrent 210.0APOH, F2
44ductal carcinoma in situ10.0F2, MTHFR
45autoimmune-related retinopathy and optic neuropathy10.0MMP3, NOS3, SELE, SERPINE1
46neurofibroma of the heart10.0MTHFR, NOS3, SERPINE1
47houlston ironton temple syndrome10.0F2, MTHFR
48goodpasture syndrome10.0APOH, HLA-B, SELE
49artery disease9.9
50peripheral artery disease9.9

Comorbidity relations with Buerger Disease via Phenotypic Disease Network (PDN):


Hypertension, EssentialPeripheral Vascular Disease
Ischemic Heart Disease

Graphical network of the top 20 diseases related to Buerger Disease:



Diseases related to buerger disease

Symptoms & Phenotypes for Buerger Disease

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Symptoms by clinical synopsis from OMIM:

211480

Clinical features from OMIM:

211480

Human phenotypes related to Buerger Disease:

 54 64 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensory neuropathy54 Very frequent (99-80%)
2 hyperhidrosis64 54 Occasional (29-5%) HP:0000975
3 acrocyanosis64 54 Frequent (79-30%) HP:0001063
4 vasculitis64 54 Very frequent (99-80%) HP:0002633
5 arthralgia64 54 Frequent (79-30%) HP:0002829
6 paresthesia64 54 Frequent (79-30%) HP:0003401
7 arterial thrombosis64 54 Very frequent (99-80%) HP:0004420
8 gangrene64 54 Very frequent (99-80%) HP:0100758
9 insomnia64 54 Occasional (29-5%) HP:0100785
10 skin ulcer64 54 Very frequent (99-80%) HP:0200042
11 limb pain64 HP:0009763

MGI Mouse Phenotypes related to Buerger Disease according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.3F2, NOS3, PLAU, SELE, SERPINE1
2MP:00053767.3APOH, F2, MMP3, MTHFR, NOS3, PLAU

Drugs & Therapeutics for Buerger Disease

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Drugs for Buerger Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Pharmaceutical SolutionsPhase 1, Phase 28192
2AnestheticsPhase 1, Phase 29596
3AnticoagulantsPhase 22623
4Vasodilator AgentsPhase 23543
5CitrateNutraceuticalPhase 1, Phase 21160
6
Citric Acidnutraceutical, vet_approvedPhase 1, Phase 2116077-92-9311
Synonyms:
2-Hydroxy-1,2,3-propanetricarboxylate
2-Hydroxy-1,2,3-propanetricarboxylic acid
2-Hydroxytricarballylic acid
3-Carboxy-3-hydroxypentane-1,5-dioate
3-Carboxy-3-hydroxypentane-1,5-dioic acid
Aciletten
Anhydrous citrate
Anhydrous citric acid
Chemfill
Citraclean
 
Citrate
Citretten
Citric acid
Citro
Citronensäure
E 330
Hydrocerol A
Kyselina citronova
Suby G
Uro-trainer
beta-Hydroxytricarballylate
beta-Hydroxytricarballylic acid
7
Bosentanapproved, investigational104147536-97-8104865
Synonyms:
-5-(o-methoxyphenoxy)-2-(2-pyrimidinyl)-4-pyrimidinyl]benzenesulfonamide
147536-97-8
174227-18-0
4-(1,1-Dimethylethyl)-N-(6-(2-hydroxyethoxy)-5-(2-methoxyphenoxy)-(2,2'-bipyrimidin)-4-yl) benzenesulfornamide
4-(1,1-Dimethylethyl)-N-(6-(2-hydroxyethoxy)-5-(2-methoxyphenoxy)-(2,2'-bipyrimidin)-4-yl)benzenesulfornamide
4-t-butyl-N-(6-(2-hydroxyethoxy)-5-(2-methoxyphenoxy)-2,2'-bipyrimidin-4-yl)benzenesulfonamide
4-tert-butyl-N-[6-(2-hydroxyethoxy)-5-(2-methoxyphenoxy)-2,2'-bipyrimidin-4-yl]benzenesulfonamide
4-tert-butyl-N-[6-(2-hydroxyethoxy)-5-(2-methoxyphenoxy)-2-pyrimidin-2-ylpyrimidin-4-yl]benzenesulfonamide
AC-148
AC1L2XN2
Actelion
Bosentan
Bosentan (INN)
Bosentan [USAN:INN:BAN]
Bosentan hydrate
C27H29N5O6S
CHEBI:51450
CHEMBL957
CID104865
D07538
DB00559
 
EN002863
HMS2090N14
I06-1873
KS-5062
L001086
LS-31532
MolPort-003-845-300
NCGC00167440-01
PDSP1_001731
PDSP2_001714
Ro 47-0203
Ro 47-0203/039
Ro-47-0203
Ro-47-0203/029
Ro-47-0203/039
TL8001039
Tracleer
UNII-XUL93R30K2
bosentan
bosentanum
bosentán
p-tert-Butyl-N-(6-(2-hydroxyethoxy)-5-(o-methoxyphenoxy)-2-(2-pyrimidinyl)-4-pyrimidinyl)benzenesulfonamide
p-tert-Butyl-N-[6-(2-hydroxyethoxy)
8
Adalimumabapproved494331731-18-116219006
Synonyms:
331731-18-1
Adalimumab
Adalimumab (USAN/INN)
Adalimumab (genetical recombination)
 
Adalimumab (genetical recombination) (JAN)
D02597
Humira
Humira (TN)
Humira Pen
Ig gamma-1 chain C region
9Endothelin Receptor Antagonists218
10Antihypertensive Agents4207
11Antirheumatic Agents10956
12Anti-Inflammatory Agents10729

Interventional clinical trials:

(show all 16)
idNameStatusNCT IDPhase
1The Evaluation of Bococizumab (PF-04950615;RN316) in Reducing the Occurrence of Major Cardiovascular Events in High Risk SubjectsTerminatedNCT01975376Phase 3
2TACT-NAGOYA: Therapeutic Angiogenesis Using Cell TransplantationUnknown statusNCT00145262Phase 2
3Safety and Efficacy Study of Autologous BM-MNC Processed by Two Methods for Treating Patients With Chronic Limb IschemiaUnknown statusNCT01446055Phase 1, Phase 2
4Autologous Adipose Tissue Derived Mesenchymal Stem Cells Transplantation in Patient With Buerger's DiseaseCompletedNCT01302015Phase 1, Phase 2
5A Clinical Trial to Study the Efficacy and Safety of Different Doses of Bone Marrow Derived Mesenchymal Stem Cells in Patients With Critical Limb Ischemia Due to Buergers DiseaseCompletedNCT01484574Phase 2
6Autologous Endothelial Progenitor Cells (EPCs) From Peripheral Blood in the Treatment of Critical Limb IschemiaCompletedNCT01595776Phase 1, Phase 2
7Effectiveness and Safety of Adipose-Derived Regenerative Cells for the Treatment of Critical Lower Limb IschemiaEnrolling by invitationNCT02864654Phase 1, Phase 2
8Study to Assess the Efficacy and Safety of CLBS12 in Patients With Critical Limb Ischemia (CLI)Not yet recruitingNCT02501018Phase 2
9A Clinical Trial to Study the Efficacy and Safety of Stempeucel® in Patients With CLI Due to Buergers DiseaseWithdrawnNCT03056742Phase 2
10Evaluation of a Combined Parent-student Programme for Smoking Prevention in Berlin SchoolsUnknown statusNCT01306552
11ADDICTAO: Psychological and Addictive Profile of Patients With Buerger's DiseaseCompletedNCT01064206
12Treatment of Thromboangiitis Obliterans (Buerguer's Disease) With BosentanCompletedNCT01447550
13Contrast Enhanced Ultrasound and MuscleCompletedNCT02128750
14Outcome Predictors of a Cognitive Intervention in aMCICompletedNCT01525368
15Purified CD34+ Cells Versus Peripheral Blood Mononuclear Cells in Treatment of Critical Limb IschemiaRecruitingNCT02089828
16Documentation of Humira in Psoriasis Patients in Routine Clinical PracticeRecruitingNCT01077232

Search NIH Clinical Center for Buerger Disease

Inferred drug relations via UMLS68/NDF-RT46:

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Buerger Disease cell therapies at LifeMap Discovery.

Genetic Tests for Buerger Disease

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Anatomical Context for Buerger Disease

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MalaCards organs/tissues related to Buerger Disease:

36
Bone, Skin, Spinal cord, Bone marrow

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Buerger Disease:
id TissueAnatomical CompartmentCell Relevance
1 AdiposeSubcutaneous White AdiposeMesenchymal Stem Cells Potential therapeutic candidate
2 AdiposeSubcutaneous White AdiposeStromal Cells Potential therapeutic candidate

Publications for Buerger Disease

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Articles related to Buerger Disease:

(show all 31)
idTitleAuthorsYear
1
Vascular Function and Intima-media Thickness of a Leg Artery in Peripheral Artery Disease: A Comparison of Buerger Disease and Atherosclerotic Peripheral Artery Disease. (27169920)
2016
2
Efficacy of bosentan in patients with refractory thromboangiitis obliterans (Buerger disease): A case series and review of the literature. (27902617)
2016
3
Corkscrew Collateral Vessels in Buerger Disease: Vasa Vasorum or Vasa Nervorum. (27013404)
2016
4
The Epidemiologic and Clinical Findings of Patients with Buerger Disease. (26370744)
2016
5
Smoking, Periodontitis, and Buerger Disease. (26965810)
2016
6
Effectiveness of intravenous ilomedin infusion and smoking cessation in the treatment of acutely symptomatic Buerger disease. (24366824)
2015
7
Thromboangiitis obliterans (Buerger disease). (26649109)
2015
8
Effect of a Low-Intensity Pulsed Ultrasound Device, SX-1001, on Clinical Symptoms in Buerger Disease With Limb Ischemia. (26549399)
2015
9
The infrapopliteal arterial occlusions similar to buerger disease: report of two cases. (25431737)
2014
10
Buerger Disease (Thromboangiitis Obliterans). (25770636)
2014
11
Current status of patients with buerger disease in Japan. (24130618)
2013
12
Clinical Study of Phlebitis Migrans and Incompetence of the Leg's Superficial Vein in Buerger Disease. (23555485)
2012
13
Are There Any Objections against Our Hypothesis That Buerger Disease Is an Infectious Disease? (23555529)
2012
14
Combined revascularization and free-tissue transfer for limb salvage in a Buerger disease patient. (22284776)
2012
15
New routing alternative for proximal anterior tibial artery bypass in patients with Buerger disease. (21944922)
2011
16
Buerger disease (thromboangiitis obliterans): a clinical diagnosis. (21173586)
2011
17
Autologous bone-marrow mononuclear cell implantation reduces long-term major amputation risk in patients with critical limb ischemia: a comparison of atherosclerotic peripheral arterial disease and Buerger disease. (21205941)
2011
18
A single nucleotide polymorphism in the 3'-untranslated region of MyD88 gene is associated with Buerger disease but not with Takayasu arteritis in Japanese. (21525878)
2011
19
Flow-mediated vasodilation is augmented in a corkscrew collateral artery compared with that in a native artery in patients with thromboangiitis obliterans (Buerger disease). (21908145)
2011
20
Spinal cord stimulation for the treatment of Buerger disease: a report on 3 cases. (21593666)
2011
21
Effectiveness of bosentan in the treatment of ischemic lesions in a case of thromboangiitis obliterans (Buerger disease): a case report. (21810389)
2011
22
Trace elements and toxic heavy metals play a role in Buerger disease and atherosclerotic peripheral arterial occlusive disease. (21173730)
2010
23
The role of oxidative stress and antioxidant defenses in Buerger disease and atherosclerotic peripheral arterial occlusive disease. (19128930)
2010
24
Treatment of Buerger disease (thromboangiitis obliterans) with bosentan: a case report. (21686681)
2009
25
Compartment syndrome in patients with Buerger disease and anticardiolipin antibodies. (18580711)
2008
26
Thromboangiitis obliterans (Buerger disease). (17418073)
2007
27
Synergistic contribution of CD14 and HLA loci in the susceptibility to Buerger disease. (17653770)
2007
28
Thromboangiitis obliterans (Buerger disease) in a female mild smoker treated with spinal cord stimulation. (15201654)
2004
29
Intestinal type of thromboangiitis obliterans (Buerger disease) preceding symptoms of severe peripheral arterial disease. (11424329)
2001
30
Chronic ulcerations in the upper and lower extremities. Thromboangiitis obliterans (Buerger disease) (9722735)
1998
31
The problem of cerebral thromboangiitis obliterans (Winiwarter-Buerger disease). (13885472)
1960

Variations for Buerger Disease

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Expression for genes affiliated with Buerger Disease

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Search GEO for disease gene expression data for Buerger Disease.

Pathways for genes affiliated with Buerger Disease

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GO Terms for genes affiliated with Buerger Disease

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Cellular components related to Buerger Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056157.8APOH, F2, MMP3, PLAU, SELE, SERPINE1

Biological processes related to Buerger Disease according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of blood coagulationGO:003019510.3APOH, SERPINE1
2negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:190204210.3NOS3, SERPINE1
3blood coagulation, intrinsic pathwayGO:000759710.3APOH, F2
4negative regulation of platelet activationGO:001054410.2F2, NOS3
5regulation of blood coagulationGO:003019310.1APOH, F2
6plasminogen activationGO:003163910.0APOH, PLAU
7regulation of receptor activityGO:00104699.9PLAU, SERPINE1
8negative regulation of fibrinolysisGO:00519189.8APOH, F2, SERPINE1
9positive regulation of blood coagulationGO:00301949.8APOH, F2, SERPINE1
10fibrinolysisGO:00427309.6F2, PLAU, SERPINE1
11response to interleukin-1GO:00705559.2MTHFR, SELE

Molecular functions related to Buerger Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1NADP bindingGO:00506619.9MTHFR, NOS3
2serine-type endopeptidase activityGO:00042528.9F2, MMP3, PLAU

Sources for Buerger Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet