TAO
MCID: BRG013
MIFTS: 61

Buerger Disease (TAO)

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

Aliases & Classifications for Buerger Disease

MalaCards integrated aliases for Buerger Disease:

Name: Buerger Disease 58 54 60 38 56 39
Thromboangiitis Obliterans 58 39 12 54 60 45 15 17 74
Buerger's Disease 12 77 54
Inflammatory Occlusive Peripheral Vascular Disease 54
Occlusive Peripheral Vascular Disease 54
Presenile Gangrene 12
Tao 54

Characteristics:

Orphanet epidemiological data:

60
buerger disease
Prevalence: 1-5/10000 (Worldwide),1-5/10000 (Europe); Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
buerger disease:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:12918
OMIM 58 211480
KEGG 38 H01625
ICD9CM 36 443.1
MeSH 45 D013919
NCIt 51 C35070
SNOMED-CT 69 52403007
ICD10 34 I73.1
ICD10 via Orphanet 35 I73.1
UMLS via Orphanet 75 C0040021
Orphanet 60 ORPHA36258
MedGen 43 C0040021
UMLS 74 C0040021

Summaries for Buerger Disease

NIH Rare Diseases : 54 Buerger disease is a disease in which small and medium-sized blood vessels in the arms and/or legs become inflamed and blocked (vasculitis). This reduces blood flow to affected areas of the body, eventually resulting damage to tissues. Symptoms of Buerger disease may include coldness, numbness, tingling or burning, and pain. Symptoms may first be felt in the fingertips or toes, and then move further up the arms or legs. Additional symptoms that may develop include changes in the texture and color of the skin, Raynaud's phenomenon, painful muscle cramps, swelling (edema), skin ulcers, and gangrene. Rare complications that have been reported include transient ischemic attacks or stroke, and heart attack. Buerger disease almost always occurs in people who use tobacco, but it is not known exactly how tobacco plays a role in the development of the disease. Some people may have a genetic predisposition to Buerger disease. It is also possible that Buerger disease is an autoimmune disease, as the immune system seems to play a large role in its development. More research is needed to identify the exact underlying causes. Quitting all forms of tobacco is an essential part of stopping the progression of the disease. There are no definitive treatments, but certain therapies may improve symptoms in some people. Therapies that have been reported with varying success include medications to improve blood flow and reduce the risk of clots, pain medicines, compression of the arms and legs, spinal cord stimulation, and surgery to control pain and increase blood flow. Amputation may be necessary if gangrene or a serious infection develops.

MalaCards based summary : Buerger Disease, also known as thromboangiitis obliterans, is related to peripheral vascular disease and thrombosis. An important gene associated with Buerger Disease is APOH (Apolipoprotein H), and among its related pathways/superpathways are Integrin Pathway and Response to elevated platelet cytosolic Ca2+. The drugs Sodium Citrate and Citric Acid have been mentioned in the context of this disorder. Affiliated tissues include Adipose and Adipose, and related phenotypes are skin ulcer and vasculitis

Wikipedia : 77 Thromboangiitis obliterans, also known as Buerger disease (English /bɜːrɡər/, German /byrgər/), is a... more...

Description from OMIM: 211480

Related Diseases for Buerger Disease

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

(show top 50) (show all 160)
# Related Disease Score Top Affiliating Genes
1 peripheral vascular disease 30.8 F2 SELE SERPINE1
2 thrombosis 30.4 APOH F2 MTHFR SERPINE1
3 ischemic heart disease 30.4 MTHFR NOS3
4 thrombophlebitis 30.3 APOH F2 MTHFR SERPINE1
5 venous insufficiency 30.2 F2 SERPINE1
6 arteries, anomalies of 30.1 NOS3 SELE SERPINE1
7 thrombotic thrombocytopenic purpura 30.0 APOH SELE
8 nonarteritic anterior ischemic optic neuropathy 30.0 F2 MTHFR NOS3
9 polyarteritis nodosa 30.0 APOH SELE
10 ischemic colitis 29.9 APOH F2 SERPINE1
11 retinal artery occlusion 29.8 APOH F2 MTHFR SERPINE1
12 thrombophilia 29.8 APOH F2 MTHFR SERPINE1
13 homocysteinemia 29.8 F2 MTHFR NOS3
14 thrombophilia due to thrombin defect 29.8 APOH F2 MTHFR SERPINE1
15 pulmonary embolism 29.8 APOH F2 MTHFR SERPINE1
16 heart disease 29.7 F2 MMP3 MTHFR NOS3 SERPINE1
17 protein s deficiency 29.7 APOH F2 MTHFR
18 ischemic optic neuropathy 29.7 APOH F2 MTHFR NOS3
19 budd-chiari syndrome 29.7 APOH F2 MTHFR
20 aortic aneurysm, familial abdominal, 1 29.6 MMP3 PLAU
21 intermittent claudication 29.5 APOH F2 HTR2A SERPINE1
22 antiphospholipid syndrome 29.4 APOH F2 MTHFR SELE
23 vascular disease 29.3 APOH F2 MMP3 MTHFR NOS3 SELE
24 myocardial infarction 28.8 F2 ITGA2 MMP3 MTHFR NOS3 SERPINE1
25 endocrine exophthalmos 11.1
26 thyrotoxic exophthalmos 11.1
27 arteriosclerosis 10.5
28 arteriosclerosis obliterans 10.5
29 carotid artery thrombosis 10.3 NOS3 SERPINE1
30 takayasu arteritis 10.3
31 carotid artery occlusion 10.3 APOH NOS3
32 blue toe syndrome 10.2 F2 SERPINE1
33 periodontitis 10.2
34 hemifacial spasm 10.2 MTHFR NOS3
35 arthritis 10.2
36 vasculitis 10.2
37 inferior vena cava interruption 10.2 MTHFR SERPINE1
38 neonatal stroke 10.2 MTHFR SERPINE1
39 amaurosis fugax 10.2 MTHFR SERPINE1
40 cerebral sinovenous thrombosis 10.2 APOH F2
41 prothrombin deficiency, congenital 10.2 APOH F2
42 legg-calve-perthes disease 10.2 APOH SERPINE1
43 coronary artery vasospasm 10.2 HTR2A NOS3
44 papilledema 10.2 APOH F2
45 post-thrombotic syndrome 10.2 F2 SERPINE1
46 sneddon syndrome 10.2 APOH F2
47 peripheral vertigo 10.2 APOH F2
48 myoclonic-atonic epilepsy 10.1
49 lemierre's syndrome 10.1 MTHFR SERPINE1
50 limb ischemia 10.1

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


Hypertension, Essential Ischemic Heart Disease
Peripheral Vascular Disease

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



Diseases related to Buerger Disease

Symptoms & Phenotypes for Buerger Disease

Human phenotypes related to Buerger Disease:

60 33 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skin ulcer 60 33 hallmark (90%) Very frequent (99-80%) HP:0200042
2 vasculitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002633
3 arterial thrombosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0004420
4 gangrene 60 33 hallmark (90%) Very frequent (99-80%) HP:0100758
5 arthralgia 60 33 frequent (33%) Frequent (79-30%) HP:0002829
6 acrocyanosis 60 33 frequent (33%) Frequent (79-30%) HP:0001063
7 paresthesia 60 33 frequent (33%) Frequent (79-30%) HP:0003401
8 hyperhidrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000975
9 insomnia 60 33 occasional (7.5%) Occasional (29-5%) HP:0100785
10 sensory neuropathy 60 Very frequent (99-80%)
11 pain 33 HP:0012531
12 raynaud phenomenon 33 HP:0030880
13 limb pain 33 HP:0009763

Symptoms via clinical synopsis from OMIM:

58
Limbs:
pain
coldness
raynaud's phenomenon
hyperhydrosis

Skin:
red, elevated areas over venous valves
digital ulcers

Clinical features from OMIM:

211480

MGI Mouse Phenotypes related to Buerger Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.97 APOH F2 ITGA2 MMP3 MTHFR NOS3
2 hematopoietic system MP:0005397 9.91 F2 ITGA2 MMP3 NOS3 PLAU SELE
3 integument MP:0010771 9.73 F2 ITGA2 MTHFR PLAU SELE SERPINE1
4 liver/biliary system MP:0005370 9.55 MTHFR NOS3 PLAU SELE SERPINE1
5 respiratory system MP:0005388 9.35 F2 NOS3 PLAU SELE SERPINE1
6 skeleton MP:0005390 9.1 F2 HTR2A MMP3 MTHFR NOS3 PLAU

Drugs & Therapeutics for Buerger Disease

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium Citrate Approved, Investigational Phase 1, Phase 2 68-04-2
2
Citric Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 77-92-9 311
3 Anesthetics Phase 1, Phase 2,Phase 2
4 Citrate Phase 1, Phase 2
5 Pharmaceutical Solutions Phase 1, Phase 2
6 Anticoagulants Phase 2
7 Vasodilator Agents Phase 2
8
Bosentan Approved, Investigational 147536-97-8 104865
9 Endothelin Receptor Antagonists
10 Antihypertensive Agents

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy Study of Autologous BM-MNC Processed by Two Methods for Treating Patients With Chronic Limb Ischemia Unknown status NCT01446055 Phase 1, Phase 2
2 Effectiveness and Safety of Adipose-Derived Regenerative Cells for the Treatment of Critical Lower Limb Ischemia Unknown status NCT02864654 Phase 1, Phase 2
3 Autologous Adipose Tissue Derived Mesenchymal Stem Cells Transplantation in Patient With Buerger's Disease Completed NCT01302015 Phase 1, Phase 2
4 A 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 Disease Completed NCT01484574 Phase 2
5 Autologous Endothelial Progenitor Cells (EPCs) From Peripheral Blood in the Treatment of Critical Limb Ischemia Completed NCT01595776 Phase 1, Phase 2
6 Study to Assess the Efficacy and Safety of CLBS12 in Patients With Critical Limb Ischemia (CLI) Recruiting NCT02501018 Phase 2 SOC
7 A Clinical Trial to Study the Efficacy and Safety of Stempeucel® in Patients With CLI Due to Buergers Disease Withdrawn NCT03056742 Phase 2
8 TACT-NAGOYA: Therapeutic Angiogenesis Using Cell Transplantation Unknown status NCT00145262
9 Purified CD34+ Cells Versus Peripheral Blood Mononuclear Cells in Treatment of Critical Limb Ischemia Unknown status NCT02089828 Not Applicable
10 ADDICTAO: Psychological and Addictive Profile of Patients With Buerger's Disease Completed NCT01064206
11 Treatment of Thromboangiitis Obliterans (Buerguer's Disease) With Bosentan Completed NCT01447550 Bosentan
12 Contrast Enhanced Ultrasound and Muscle Completed NCT02128750 Not Applicable

Search NIH Clinical Center for Buerger Disease

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cell-based therapeutics:


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

Cochrane evidence based reviews: thromboangiitis obliterans

Genetic Tests for Buerger Disease

Anatomical Context for Buerger Disease

MalaCards organs/tissues related to Buerger Disease:

42
Skin, Bone, Spinal Cord, Heart, Endothelial, Bone Marrow, Colon
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Buerger Disease:
# Tissue Anatomical CompartmentCell Relevance
1 Adipose Subcutaneous White Adipose Mesenchymal Stem Cells Potential therapeutic candidate
2 Adipose Subcutaneous White Adipose Stromal Cells Potential therapeutic candidate

Publications for Buerger Disease

Articles related to Buerger Disease:

(show top 50) (show all 423)
# Title Authors Year
1
Homozygous Factor V Leiden Thrombophilia in a Patient With Histologically Confirmed Thromboangiitis Obliterans. ( 30792584 )
2019
2
Endovascular Recanalization of Thromboangiitis Obliterans (Buerger's Disease) in Twenty-Eight Consecutive Patients and Combined Antegrade-Retrograde Intervention in Eight Patients. ( 30834476 )
2019
3
Thromboangiitis Obliterans: Changing Demographics for a Preventable Disease. ( 30899620 )
2019
4
Four-extremity salvage with long vein grafts in buerger disease. ( 29076321 )
2018
5
Vascular Changes of Complex Regional Pain Syndrome Unmask Buerger's Disease (Thromboangiitis Obliterans): A Letter to the Editor. ( 29800280 )
2018
6
Three cases of dorsal metatarsal artery bypass in patients with Buerger disease. ( 30148235 )
2018
7
Performance of noninvasive laser Doppler flowmetry and laser speckle contrast imaging methods in diagnosis of Buerger disease: A case report. ( 30412126 )
2018
8
Outcomes of endovascular treatment versus bypass surgery for critical limb ischemia in patients with thromboangiitis obliterans. ( 30300407 )
2018
9
Autologous bone marrow-derived mononuclear cell therapy in Chinese patients with critical limb ischemia due to thromboangiitis obliterans: 10-year results. ( 29471870 )
2018
10
Endovascular Treatment of Thromboangiitis Obliterans (Buerger's Disease). ( 29237360 )
2018
11
The IL-6/STAT3 pathway regulates adhesion molecules and cytoskeleton of endothelial cells in thromboangiitis obliterans. ( 29339086 )
2018
12
How to Treat a Patient with Thromboangiitis Obliterans: A Systematic Review. ( 29421414 )
2018
13
Effect of revascularization on IL-6 and TNF-α in patients with thromboangiitis obliterans. ( 29556267 )
2018
14
Hyperbaric oxygen treatment in thromboangiitis obliterans: a retrospective clinical audit. ( 29557099 )
2018
15
The Status of Nitric Oxide and its Backup, Heme Oxygenase 1, in Thromboangiitis Obliterans. ( 29766003 )
2018
16
Treatment of multiple refractory ankle ulcerations in thromboangiitis obliterans: A case report. ( 29768374 )
2018
17
Sequential intravenous allogeneic mesenchymal stromal cells as a potential treatment for thromboangiitis obliterans (Buerger's disease). ( 29848379 )
2018
18
Cilostazol on the expression of ICAM-1, VCAM-1 and inflammatory factors in plasma in patients with thromboangiitis obliterans. ( 30186478 )
2018
19
Alleviation of A disintegrin and metalloprotease 10 (ADAM10) on thromboangiitis obliterans involves the HMGB1/RAGE/ NF-κB pathway. ( 30245136 )
2018
20
Thromboangiitis obliterans episode: autoimmune flare-up or reinfection? ( 30319267 )
2018
21
Thromboangiitis obliterans - what do we know 110 years after the description of the disease by Leo Buerger. ( 30345778 )
2018
22
Stem cell therapy for treatment of thromboangiitis obliterans (Buerger's disease). ( 30378681 )
2018
23
Effects of aspirin combined with cilostazol on thromboangiitis obliterans in diabetic patients. ( 30546409 )
2018
24
Long-Term Outcome and Prognostic Factors of Complications in Thromboangiitis Obliterans (Buerger's Disease): A Multicenter Study of 224 Patients. ( 30571594 )
2018
25
Thromboangiitis Obliterans: 110 Years Old and Little Progress Made. ( 30571606 )
2018
26
Endothelial dysfunction in patients with Buerger disease. ( 28860792 )
2017
27
Immediate and late outcomes of endovascular therapy for lower extremity arteries in Buerger disease. ( 29157680 )
2017
28
Buerger Disease (Thromboangiitis Obliterans) ( 28613608 )
2017
29
Retinal Artery Occlusion Secondary to Buerger's Disease (Thromboangiitis Obliterans). ( 28491481 )
2017
30
Endovascular Therapy Outcomes and Intravascular Ultrasound Findings in Thromboangiitis Obliterans (Buerger's Disease). ( 28743226 )
2017
31
Outcomes of endovascular recanalization versus autogenous venous bypass for thromboangiitis obliterans patients with critical limb ischemia due to tibioperoneal arterial occlusion. ( 28697938 )
2017
32
Very distal vein bypass in patients with thromboangiitis obliterans. ( 28271745 )
2017
33
Efficacy of Endovascular Radiofrequency Ablation for Thromboangiitis Obliterans (Buerger's Disease). ( 28341508 )
2017
34
Sympathetic Denervation Using Endovascular Radiofrequency Ablation in Patients with Thromboangiitis Obliterans (Buerger's Disease). ( 28688879 )
2017
35
Conservative treatment of patients with thromboangiitis obliterans or cannabis-associated arteritis presenting with critical lower limb ischaemia. ( 28753096 )
2017
36
Treatment of Thromboangiitis Obliterans Using Smoking Cessation and Far-infrared Therapy: A Case Study. ( 28759424 )
2017
37
Pathogenesis of thromboangiitis obliterans: Gene polymorphism and immunoregulation of human vascular endothelial cells. ( 28864202 )
2017
38
Successful Percutaneous Transcatheter Angioplasty of Radial Artery in Thromboangiitis Obliterans (Buerger's Disease). ( 28917511 )
2017
39
Unexpected Inflammation in the Sympathetic Ganglia in Thromboangiitis Obliterans. ( 29142485 )
2017
40
Smoking, Periodontitis, and Buerger Disease. ( 26965810 )
2016
41
Efficacy of bosentan in patients with refractory thromboangiitis obliterans (Buerger disease): A case series and review of the literature. ( 27902617 )
2016
42
[Thromboangiitis obliterans (Buerger's disease): state of the art]. ( 27935900 )
2016
43
Autologous peripheral blood stem cell transplantation to treat thromboangiitis obliterans: preliminary results. ( 26914127 )
2016
44
Corkscrew Collateral Vessels in Buerger Disease: Vasa Vasorum or Vasa Nervorum. ( 27013404 )
2016
45
Thromboangiitis obliterans (Buerger's disease). ( 27144003 )
2016
46
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
47
The Epidemiologic and Clinical Findings of Patients with Buerger Disease. ( 26370744 )
2016
48
Association Between Three SNPs and Thromboangiitis Obliterans in Xinjiang Uyghur Population. ( 26829209 )
2016
49
The Incidence and Prevalence of Thromboangiitis Obliterans in Taiwan: A Nationwide, Population-based Analysis of Data Collected from 2002 to 2011. ( 27464297 )
2016
50
Vasa Nervorum as the Source of Corkscrew Collaterals in Thromboangiitis Obliterans (Buerger's Disease). ( 27515062 )
2016

Variations for Buerger Disease

Expression for Buerger Disease

Search GEO for disease gene expression data for Buerger Disease.

Pathways for Buerger Disease

Pathways related to Buerger Disease according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.99 F2 ITGA2 MMP3 PLAU SERPINE1
2
Show member pathways
12.25 APOH F2 ITGA2 NOS3 PLAU SELE
3
Show member pathways
12.04 NOS3 PLAU SELE
4
Show member pathways
11.91 F2 MTHFR SERPINE1
5
Show member pathways
11.75 F2 PLAU SERPINE1
6 11.64 F2 PLAU SERPINE1
7 11.33 NOS3 SELE SERPINE1
8 11.16 NOS3 SELE
9 11.09 MMP3 SELE
10 10.96 NOS3 PLAU
11 10.92 MMP3 PLAU SERPINE1
12 10.37 PLAU SERPINE1

GO Terms for Buerger Disease

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.43 APOH F2 MMP3 PLAU SELE SERPINE1
2 caveola GO:0005901 8.8 HTR2A NOS3 SELE

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.7 F2 ITGA2 PLAU
2 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.56 NOS3 SERPINE1
3 response to interleukin-1 GO:0070555 9.55 MTHFR SELE
4 activation of phospholipase C activity GO:0007202 9.54 HTR2A SELE
5 positive regulation of collagen biosynthetic process GO:0032967 9.51 F2 ITGA2
6 blood coagulation, intrinsic pathway GO:0007597 9.49 APOH F2
7 negative regulation of blood coagulation GO:0030195 9.48 APOH SERPINE1
8 regulation of blood coagulation GO:0030193 9.46 APOH F2
9 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.43 HTR2A ITGA2
10 response to hypoxia GO:0001666 9.43 ITGA2 MTHFR PLAU
11 plasminogen activation GO:0031639 9.4 APOH PLAU
12 negative regulation of potassium ion transport GO:0043267 9.37 HTR2A NOS3
13 fibrinolysis GO:0042730 9.33 F2 PLAU SERPINE1
14 negative regulation of platelet activation GO:0010544 9.32 F2 NOS3
15 positive regulation of blood coagulation GO:0030194 9.13 APOH F2 SERPINE1
16 negative regulation of fibrinolysis GO:0051918 8.8 APOH F2 SERPINE1

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

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 9.13 F2 MMP3 PLAU
2 NADP binding GO:0050661 8.62 MTHFR NOS3

Sources for Buerger Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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