MCID: BRG013
MIFTS: 54

Buerger Disease malady

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

Aliases & Classifications for Buerger Disease

About this section

Aliases & Descriptions for Buerger Disease:

Name: Buerger Disease 50 46 52 48 33
Thromboangiitis Obliterans 33 11 46 13 52 37 66
Buerger's Disease 11 46
Inflammatory Occlusive Peripheral Vascular Disease 46
 
Occlusive Peripheral Vascular Disease 46
Thromboangiitis Obliterans Nos 11
Presenile Gangrene 11
Tao 46

Characteristics:

Orphanet epidemiological data:

52
thromboangiitis obliterans:
Prevalence: 1-5/10000 (Worldwide),1-5/10000 (Europe); Age of onset: Adult; Age of death: normal life expectancy

HPO:

62
buerger disease:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 211480
Disease Ontology11 DOID:12918
ICD1028 I73.1
ICD9CM30 443.1
MeSH37 D013919
NCIt43 C35070
Orphanet52 ORPHA36258
ICD10 via Orphanet29 I73.1

Summaries for Buerger Disease

About this section
NIH Rare Diseases:46 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 hydromyelia, 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 isoxsuprine and isoxsuprine 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:69 Thromboangiitis obliterans (also known as Buerger\'s disease, Buerger disease [English /bʌrɡər/;... more...

Description from OMIM:50 211480

Related Diseases for Buerger Disease

About this section

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

(show top 50)    (show all 126)
idRelated DiseaseScoreTop Affiliating Genes
1peripheral artery disease28.3F2, MTHFR, NOS3, SELE, SERPINE1
2hydromyelia10.5MTHFR, NOS3
3rasa1-related disorders10.5F2, MTHFR
4typhoid fever10.5F2, MTHFR
5acute zonal occult outer retinopathy10.5F2, MTHFR
6thyroid hyalinizing trabecular adenoma10.5F2, MTHFR
7homocystinuria due to defect in methylation cbl g10.5F2, MTHFR
8primary pigmented nodular adrenocortical disease10.5F2, MTHFR
9lymphatic system cancer10.5F2, MTHFR
10islet cell tumor10.5MTHFR, NOS3
11urinary bladder cancer10.5MTHFR, NOS3
12histoplasmosis10.5F2, MTHFR
13thrombocytopenia due to platelet alloimmunization10.5HLA-DRB1, NOS3
14angular blepharoconjunctivitis10.4F2, MTHFR
15classic congenital lipoid adrenal hyperplasia due to star deficency10.4APOH, F2
16pseudohermaphroditism10.4F2, MTHFR
17cholesterol embolism10.4APOH, F2
18thrombophilia due to thrombin defect10.4APOH, F2
19may-hegglin anomaly10.4APOH, F2
20idiopathic central precocious puberty10.4F2, HLA-DRB1
21transient cerebral ischemia10.4APOH, F2
22pregnancy loss, recurrent 110.4APOH, MTHFR
23lip carcinoma in situ10.3F2, MTHFR
24x-linked congenital generalized hypertrichosis10.3HLA-DRB1, MTHFR
25fibrous histiocytoma10.3F2, HLA-DRB1
26thrombocytopenia with elevated serum iga and renal disease10.3F2, MTHFR
27renal fibrosis10.3F2, NOS3
28hemophagocytic lymphohistiocytosis10.3HLA-DRB1, MTHFR
29keloids10.3MMP3, PLAU
30pes anserinus tendinitis or bursitis10.3F2, MTHFR
31lingual-facial-buccal dyskinesia10.3APOH, F2
32complex regional pain syndrome10.3APOH, MTHFR
33hepatic coma10.3F2, HLA-DRB1
34hepatocellular adenoma10.2F2, MTHFR, NOS3
35rhizomelic pseudopolyarthritis10.2HLA-DRB1, SELE
36dermatitis10.2F2, MTHFR, NOS3
37spastic paraplegia 3a10.2F2, MTHFR, NOS3
38alpha-2-plasmin inhibitor deficiency10.2F2, MTHFR, NOS3
39borderline glaucoma10.2F2, MTHFR, NOS3
40spastic paraplegia-paget disease of bone syndrome10.2HLA-DRB1, SELE
41thyroiditis10.2
42asphyxia neonatorum10.2APOH, SELE
43choroid necrotic melanoma10.2APOH, MTHFR
44bubonic plague10.1F2, NOS3
45spinal canal and spinal cord meningioma10.1F2, NOS3
46congenital stenosis of the inferior vena cava10.1MTHFR, SERPINE1
47lateral cystocele10.1F2, SERPINE1
48neuromyelitis optica10.1MTHFR, SERPINE1
49dentinogenesis imperfecta10.1F2, HLA-DRB1
50ameloblastic carcinoma10.1MTHFR, SERPINE1

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



Diseases related to buerger disease

Symptoms for Buerger Disease

About this section

Symptoms by clinical synopsis from OMIM:

211480

Clinical features from OMIM:

211480

Symptoms:

 52 (show all 10)
  • sensory neuropathy
  • hyperhidrosis
  • acrocyanosis
  • vasculitis
  • arthralgia
  • paresthesia
  • arterial thrombosis
  • gangrene
  • insomnia
  • skin ulcer

HPO human phenotypes related to Buerger Disease:

(show all 11)
id Description Frequency HPO Source Accession
1 vasculitis hallmark (90%) HP:0002633
2 arterial thrombosis hallmark (90%) HP:0004420
3 gangrene hallmark (90%) HP:0100758
4 skin ulcer hallmark (90%) HP:0200042
5 acrocyanosis typical (50%) HP:0001063
6 arthralgia typical (50%) HP:0002829
7 paresthesia typical (50%) HP:0003401
8 hyperhidrosis occasional (7.5%) HP:0000975
9 insomnia occasional (7.5%) HP:0100785
10 hyperhidrosis HP:0000975
11 limb pain HP:0009763

UMLS symptoms related to Buerger Disease:


vasculitic rash

Drugs & Therapeutics for Buerger Disease

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Citric AcidPhase 1, Phase 2106377-92-9311
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
2CitrateNutraceuticalPhase 1, Phase 21063
3
Bosentan102147536-97-8104865
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)

Interventional clinical trials:

(show all 12)
idNameStatusNCT IDPhase
1A 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
2Autologous Adipose Tissue Derived Mesenchymal Stem Cells Transplantation in Patient With Buerger's DiseaseCompletedNCT01302015Phase 1, Phase 2
3Autologous Endothelial Progenitor Cells (EPCs) From Peripheral Blood in the Treatment of Critical Limb IschemiaCompletedNCT01595776Phase 1, Phase 2
4TACT-NAGOYA: Therapeutic Angiogenesis Using Cell TransplantationRecruitingNCT00145262Phase 2
5Effectiveness and Safety of Adipose-Derived Regenerative Cells for the Treatment of Critical Lower Limb IschemiaEnrolling by invitationNCT02864654Phase 1, Phase 2
6Safety and Efficacy Study of Autologous BM-MNC Processed by Two Methods for Treating Patients With Chronic Limb IschemiaNot yet recruitingNCT01446055Phase 1, Phase 2
7Study to Assess the Efficacy and Safety of CLBS12 in Patients With Critical Limb Ischemia (CLI)Not yet recruitingNCT02501018Phase 2
8Treatment of Thromboangiitis Obliterans (Buerguer's Disease) With BosentanCompletedNCT01447550
9Contrast Enhanced Ultrasound and MuscleCompletedNCT02128750
10ADDICTAO: Psychological and Addictive Profile of Patients With Buerger's DiseaseRecruitingNCT01064206
11Purified CD34+ Cells Versus Peripheral Blood Mononuclear Cells in Treatment of Critical Limb IschemiaRecruitingNCT02089828
12Evaluation of a Combined Parent-student Programme for Smoking Prevention in Berlin SchoolsRecruitingNCT01306552

Search NIH Clinical Center for Buerger Disease

Inferred drug relations via UMLS66/NDF-RT44:

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

About this section

Anatomical Context for Buerger Disease

About this section

MalaCards organs/tissues related to Buerger Disease:

34
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

About this section

MGI Mouse Phenotypes related to Buerger Disease:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.0F2, NOS3, PLAU, SELE, SERPINE1
2MP:00053766.6APOH, F2, MMP3, MTHFR, NOS3, PLAU

Publications for Buerger Disease

About this section

Articles related to Buerger Disease:

(show all 30)
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
The Epidemiologic and Clinical Findings of Patients with Buerger Disease. (26370744)
2016
4
Corkscrew Collateral Vessels in Buerger Disease: Vasa Vasorum or Vasa Nervorum. (27013404)
2016
5
Effectiveness of intravenous ilomedin infusion and smoking cessation in the treatment of acutely symptomatic Buerger disease. (24366824)
2015
6
Effect of a Low-Intensity Pulsed Ultrasound Device, SX-1001, on Clinical Symptoms in Buerger Disease With Limb Ischemia. (26549399)
2015
7
Thromboangiitis obliterans (Buerger disease). (26649109)
2015
8
Buerger Disease (Thromboangiitis Obliterans). (25770636)
2014
9
The infrapopliteal arterial occlusions similar to buerger disease: report of two cases. (25431737)
2014
10
Current status of patients with buerger disease in Japan. (24130618)
2013
11
Are There Any Objections against Our Hypothesis That Buerger Disease Is an Infectious Disease? (23555529)
2012
12
Clinical Study of Phlebitis Migrans and Incompetence of the Leg's Superficial Vein in Buerger Disease. (23555485)
2012
13
Combined revascularization and free-tissue transfer for limb salvage in a Buerger disease patient. (22284776)
2012
14
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
15
Buerger disease (thromboangiitis obliterans): a clinical diagnosis. (21173586)
2011
16
Spinal cord stimulation for the treatment of Buerger disease: a report on 3 cases. (21593666)
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
Effectiveness of bosentan in the treatment of ischemic lesions in a case of thromboangiitis obliterans (Buerger disease): a case report. (21810389)
2011
19
New routing alternative for proximal anterior tibial artery bypass in patients with Buerger disease. (21944922)
2011
20
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
21
Trace elements and toxic heavy metals play a role in Buerger disease and atherosclerotic peripheral arterial occlusive disease. (21173730)
2010
22
The role of oxidative stress and antioxidant defenses in Buerger disease and atherosclerotic peripheral arterial occlusive disease. (19128930)
2010
23
Treatment of Buerger disease (thromboangiitis obliterans) with bosentan: a case report. (21686681)
2009
24
Compartment syndrome in patients with Buerger disease and anticardiolipin antibodies. (18580711)
2008
25
Thromboangiitis obliterans (Buerger disease). (17418073)
2007
26
Synergistic contribution of CD14 and HLA loci in the susceptibility to Buerger disease. (17653770)
2007
27
Thromboangiitis obliterans (Buerger disease) in a female mild smoker treated with spinal cord stimulation. (15201654)
2004
28
Intestinal type of thromboangiitis obliterans (Buerger disease) preceding symptoms of severe peripheral arterial disease. (11424329)
2001
29
Chronic ulcerations in the upper and lower extremities. Thromboangiitis obliterans (Buerger disease) (9722735)
1998
30
The problem of cerebral thromboangiitis obliterans (Winiwarter-Buerger disease). (13885472)
1960

Variations for Buerger Disease

About this section

Expression for genes affiliated with Buerger Disease

About this section
Search GEO for disease gene expression data for Buerger Disease.

Pathways for genes affiliated with Buerger Disease

About this section

GO Terms for genes affiliated with Buerger Disease

About this section

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:00310129.6APOH, F2, SERPINE1
2extracellular regionGO:00055768.2APOH, F2, MMP3, PLAU, SERPINE1
3extracellular spaceGO:00056157.7APOH, F2, MMP3, PLAU, SELE, SERPINE1
4plasma membraneGO:00058867.1APOH, F2, HLA-DRB1, 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:000759710.2APOH, F2
2negative regulation of platelet activationGO:001054410.2F2, NOS3
3regulation of blood coagulationGO:003019310.1APOH, F2
4negative regulation of blood coagulationGO:003019510.0APOH, SERPINE1
5regulation of receptor activityGO:00104699.7PLAU, SERPINE1
6negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:19020429.7NOS3, SERPINE1
7response to interleukin-1GO:00705559.6MTHFR, SELE
8positive regulation of reactive oxygen species metabolic processGO:20003799.6F2, PLAU
9negative regulation of fibrinolysisGO:00519189.6APOH, F2, SERPINE1
10fibrinolysisGO:00427309.1F2, PLAU, SERPINE1
11positive regulation of blood coagulationGO:00301949.0APOH, F2, SERPINE1
12angiogenesisGO:00015258.8NOS3, PLAU, SERPINE1

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

idNameGO IDScoreTop Affiliating Genes
1NADP bindingGO:00506619.2MTHFR, NOS3
2serine-type endopeptidase activityGO:00042528.9F2, MMP3, PLAU

Sources for Buerger Disease

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet