MCID: BRG013
MIFTS: 53

Buerger Disease 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 51 47 53 49 34
Thromboangiitis Obliterans 34 11 47 53 38 13 67
Buerger's Disease 11 47
Inflammatory Occlusive Peripheral Vascular Disease 47
 
Occlusive Peripheral Vascular Disease 47
Thromboangiitis Obliterans Nos 11
Presenile Gangrene 11
Tao 47

Characteristics:

Orphanet epidemiological data:

53
thromboangiitis obliterans:
Prevalence: 1-5/10000 (Worldwide),1-5/10000 (Europe); Age of onset: Adult; Age of death: normal life expectancy

HPO:

63
buerger disease:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 211480
Disease Ontology11 DOID:12918
ICD1029 I73.1
ICD9CM31 443.1
MeSH38 D013919
NCIt44 C35070
Orphanet53 ORPHA36258
ICD10 via Orphanet30 I73.1

Summaries for Buerger Disease

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NIH Rare Diseases:47 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 peripheral artery disease and asphyxia neonatorum, and has symptoms including vasculitis, arterial thrombosis and gangrene. 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 tolazoline and tolazoline hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include bone, endothelial and skin, and related mouse phenotypes are respiratory system and homeostasis/metabolism.

Wikipedia:70 Thromboangiitis obliterans, also known as Buerger disease (English /bʌrɡər/, German /byrgər/), is a... more...

Description from OMIM:51 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 113)
idRelated DiseaseScoreTop Affiliating Genes
1peripheral artery disease28.3F2, MTHFR, NOS3, SELE, SERPINE1
2asphyxia neonatorum10.4APOH, SELE
3classic congenital lipoid adrenal hyperplasia due to star deficency10.4APOH, F2
4cholesterol embolism10.4APOH, F2
5thrombophilia due to thrombin defect10.4APOH, F2
6may-hegglin anomaly10.4APOH, F2
7transient cerebral ischemia10.4APOH, F2
8central gyrate choroidal dystrophy10.3APOH, SELE
9lingual-facial-buccal dyskinesia10.3APOH, F2
10casr-related disorders10.3SELE, SERPINE1
11stickler sydrome, type i, nonsyndromic ocular10.2SELE, SERPINE1
12lateral cystocele10.2F2, SERPINE1
13chromophobe adenoma10.2SELE, SERPINE1
14west nile fever10.2F2, SERPINE1
15inherited blood coagulation disease10.2F2, SERPINE1
16orbital periostitis10.2HLA-B, MMP3
17keloids10.2MMP3, PLAU
18renal fibrosis10.1F2, NOS3
19bone resorption disease10.1F2, SERPINE1
20factor v deficiency10.1APOH, F2
21pregnancy loss, recurrent 110.1APOH, MTHFR
22hydromyelia10.1MTHFR, NOS3
23retinal dystrophy, iris coloboma, and comedogenic acne syndrome10.1PLAU, SERPINE1
24thyroiditis10.0
25alcohol abuse10.0F2, SERPINE1
26emphysema, congenital lobar10.0HLA-B, MMP3, SELE
27complex regional pain syndrome10.0APOH, MTHFR
28leprosy 410.0HLA-B, MMP3, SELE
29collagenous colitis10.0APOH, F2, SERPINE1
30islet cell tumor10.0MTHFR, NOS3
31rasa1-related disorders10.0F2, MTHFR
32bubonic plague10.0F2, NOS3
33microcytic anemia10.0F2, SERPINE1
34typhoid fever10.0F2, MTHFR
35acute zonal occult outer retinopathy10.0F2, MTHFR
36thyroid hyalinizing trabecular adenoma10.0F2, MTHFR
37ischemic heart disease10.0APOH, F2, SERPINE1
38goodpasture syndrome10.0APOH, HLA-B, SELE
39c1 inhibitor deficiency10.0APOH, F2, SERPINE1
40tetanus neonatorum10.0PLAU, SERPINE1
41homocystinuria due to defect in methylation cbl g10.0F2, MTHFR
42angina pectoris10.0F2, SELE
43primary pigmented nodular adrenocortical disease10.0F2, MTHFR
44lymphatic system cancer10.0F2, MTHFR
45artery disease10.0
46histoplasmosis10.0F2, MTHFR
47congenital stenosis of the inferior vena cava9.9MTHFR, SERPINE1
48neuromyelitis optica9.9MTHFR, SERPINE1
49posterolateral myocardial infarction9.9F2, SELE, SERPINE1
50ameloblastic carcinoma9.9MTHFR, SERPINE1

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



Diseases related to buerger disease

Symptoms 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:

 63 53 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vasculitis63 53 hallmark (90%) Very frequent (99-80%) HP:0002633
2 arterial thrombosis63 53 hallmark (90%) Very frequent (99-80%) HP:0004420
3 gangrene63 53 hallmark (90%) Very frequent (99-80%) HP:0100758
4 skin ulcer63 53 hallmark (90%) Very frequent (99-80%) HP:0200042
5 acrocyanosis63 53 typical (50%) Frequent (79-30%) HP:0001063
6 arthralgia63 53 typical (50%) Frequent (79-30%) HP:0002829
7 paresthesia63 53 typical (50%) Frequent (79-30%) HP:0003401
8 hyperhidrosis63 53 occasional (7.5%) Occasional (29-5%) HP:0000975
9 insomnia63 53 occasional (7.5%) Occasional (29-5%) HP:0100785
10 limb pain63 HP:0009763
11 sensory neuropathy53 Very frequent (99-80%)

UMLS symptoms related to Buerger Disease:


vasculitic rash

Drugs & Therapeutics for Buerger Disease

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

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Pharmaceutical SolutionsPhase 1, Phase 27793
2AnestheticsPhase 1, Phase 29001
3Vasodilator AgentsPhase 23438
4AnticoagulantsPhase 22516
5
Citric Acidnutraceutical, vet_approvedPhase 1, Phase 2110677-92-9311
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
6CitrateNutraceuticalPhase 1, Phase 21106
7
Bosentanapproved, investigational103147536-97-8104865
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)
8Endothelin Receptor Antagonists215
9Antihypertensive Agents4095

Interventional clinical trials:

(show all 13)
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
9ADDICTAO: Psychological and Addictive Profile of Patients With Buerger's DiseaseCompletedNCT01064206
10Treatment of Thromboangiitis Obliterans (Buerguer's Disease) With BosentanCompletedNCT01447550
11Contrast Enhanced Ultrasound and MuscleCompletedNCT02128750
12Outcome Predictors of a Cognitive Intervention in aMCICompletedNCT01525368
13Purified CD34+ Cells Versus Peripheral Blood Mononuclear Cells in Treatment of Critical Limb IschemiaRecruitingNCT02089828

Search NIH Clinical Center for Buerger Disease

Inferred drug relations via UMLS67/NDF-RT45:

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:

35
Bone, Endothelial, 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

Animal Models for Buerger Disease or affiliated genes

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MGI Mouse Phenotypes related to Buerger Disease:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.1F2, NOS3, PLAU, SELE, SERPINE1
2MP:00053767.3APOH, F2, MMP3, MTHFR, NOS3, PLAU

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
Smoking, Periodontitis, and Buerger Disease. (26965810)
2016
3
Efficacy of bosentan in patients with refractory thromboangiitis obliterans (Buerger disease): A case series and review of the literature. (27902617)
2016
4
The Epidemiologic and Clinical Findings of Patients with Buerger Disease. (26370744)
2016
5
Corkscrew Collateral Vessels in Buerger Disease: Vasa Vasorum or Vasa Nervorum. (27013404)
2016
6
Effectiveness of intravenous ilomedin infusion and smoking cessation in the treatment of acutely symptomatic Buerger disease. (24366824)
2015
7
Effect of a Low-Intensity Pulsed Ultrasound Device, SX-1001, on Clinical Symptoms in Buerger Disease With Limb Ischemia. (26549399)
2015
8
Thromboangiitis obliterans (Buerger disease). (26649109)
2015
9
Buerger Disease (Thromboangiitis Obliterans). (25770636)
2014
10
The infrapopliteal arterial occlusions similar to buerger disease: report of two cases. (25431737)
2014
11
Current status of patients with buerger disease in Japan. (24130618)
2013
12
Are There Any Objections against Our Hypothesis That Buerger Disease Is an Infectious Disease? (23555529)
2012
13
Clinical Study of Phlebitis Migrans and Incompetence of the Leg's Superficial Vein in Buerger Disease. (23555485)
2012
14
Combined revascularization and free-tissue transfer for limb salvage in a Buerger disease patient. (22284776)
2012
15
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
16
Buerger disease (thromboangiitis obliterans): a clinical diagnosis. (21173586)
2011
17
Spinal cord stimulation for the treatment of Buerger disease: a report on 3 cases. (21593666)
2011
18
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
19
Effectiveness of bosentan in the treatment of ischemic lesions in a case of thromboangiitis obliterans (Buerger disease): a case report. (21810389)
2011
20
New routing alternative for proximal anterior tibial artery bypass in patients with Buerger disease. (21944922)
2011
21
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
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 matrixGO:00310129.6APOH, F2, SERPINE1
2extracellular regionGO:00055768.4APOH, F2, MMP3, PLAU, SERPINE1
3extracellular spaceGO:00056157.8APOH, F2, MMP3, PLAU, SELE, SERPINE1
4plasma membraneGO:00058867.3APOH, F2, HLA-B, NOS3, PLAU, SELE

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1blood coagulation, intrinsic pathwayGO:000759710.1APOH, F2
2negative regulation of platelet activationGO:001054410.1F2, NOS3
3negative regulation of blood coagulationGO:003019510.0APOH, SERPINE1
4regulation of blood coagulationGO:003019310.0APOH, F2
5regulation of receptor activityGO:00104699.9PLAU, SERPINE1
6positive regulation of reactive oxygen species metabolic processGO:20003799.8F2, PLAU
7negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:19020429.7NOS3, SERPINE1
8response to interleukin-1GO:00705559.4MTHFR, SELE
9negative regulation of fibrinolysisGO:00519189.4APOH, F2, SERPINE1
10positive regulation of blood coagulationGO:00301949.2APOH, F2, SERPINE1
11fibrinolysisGO:00427309.1F2, PLAU, SERPINE1
12angiogenesisGO:00015258.7NOS3, PLAU, SERPINE1

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

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:00042529.0F2, MMP3, PLAU
2NADP bindingGO:00506619.0MTHFR, NOS3

Sources for Buerger Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet