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 57 53 59 37 55 38
Thromboangiitis Obliterans 57 38 12 53 59 44 15 73
Buerger's Disease 12 76 53
Inflammatory Occlusive Peripheral Vascular Disease 53
Occlusive Peripheral Vascular Disease 53
Presenile Gangrene 12
Tao 53

Characteristics:

Orphanet epidemiological data:

59
buerger disease
Prevalence: 1-5/10000 (Worldwide),1-5/10000 (Europe); Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
buerger disease:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 211480
Disease Ontology 12 DOID:12918
ICD10 33 I73.1
ICD9CM 35 443.1
MeSH 44 D013919
NCIt 50 C35070
SNOMED-CT 68 52403007
Orphanet 59 ORPHA36258
UMLS via Orphanet 74 C0040021
ICD10 via Orphanet 34 I73.1
MedGen 42 C0040021
KEGG 37 H01625
UMLS 73 C0040021

Summaries for Buerger Disease

NIH Rare Diseases : 53 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 thrombosis and peripheral vascular disease. 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 Citric Acid and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include Adipose and Adipose, and related phenotypes are hyperhidrosis and arthralgia

Wikipedia : 76 Thromboangiitis obliterans, also known as Buerger disease (English /b�?ːrɡ�?r/, German /byrg�?r/), 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 141)
# Related Disease Score Top Affiliating Genes
1 thrombosis 30.5 APOH F2 MTHFR SERPINE1
2 peripheral vascular disease 30.5 F2 SELE SERPINE1
3 thrombophlebitis 30.4 APOH F2 MTHFR SERPINE1
4 ischemic heart disease 30.2 MTHFR NOS3
5 venous insufficiency 30.1 F2 SERPINE1
6 heart disease 29.9 F2 MMP3 MTHFR NOS3 SERPINE1
7 thrombotic thrombocytopenic purpura 29.9 APOH SELE
8 arteries, anomalies of 29.9 NOS3 SELE SERPINE1
9 retinal artery occlusion 29.9 APOH F2 MTHFR SERPINE1
10 thrombophilia due to thrombin defect 29.9 APOH F2 MTHFR SERPINE1
11 pulmonary embolism 29.9 APOH F2 MTHFR SERPINE1
12 vascular disease 29.7 APOH F2 MMP3 MTHFR NOS3 SELE
13 stroke, ischemic 29.4 APOH F2 MTHFR NOS3 SERPINE1
14 myocardial infarction 29.2 F2 ITGA2 MMP3 MTHFR NOS3 SERPINE1
15 endocrine exophthalmos 11.1
16 thyrotoxic exophthalmos 11.1
17 arteriosclerosis 10.5
18 arteriosclerosis obliterans 10.4
19 carotid artery thrombosis 10.2 NOS3 SERPINE1
20 arthritis 10.2
21 vasculitis 10.2
22 carotid artery occlusion 10.2 APOH NOS3
23 takayasu arteritis 10.2
24 blue toe syndrome 10.2 F2 SERPINE1
25 hemifacial spasm 10.1 MTHFR NOS3
26 inferior vena cava interruption 10.1 MTHFR SERPINE1
27 neonatal stroke 10.1 MTHFR SERPINE1
28 amaurosis fugax 10.1 MTHFR SERPINE1
29 cerebral sinovenous thrombosis 10.1 APOH F2
30 prothrombin deficiency, congenital 10.1 APOH F2
31 coronary artery vasospasm 10.1 HTR2A NOS3
32 papilledema 10.1 APOH F2
33 myoclonic-atonic epilepsy 10.1
34 legg-calve-perthes disease 10.1 APOH SERPINE1
35 sneddon syndrome 10.1 APOH F2
36 post-thrombotic syndrome 10.1 F2 SERPINE1
37 peripheral vertigo 10.1 APOH F2
38 periodontitis 10.1
39 lemierre's syndrome 10.1 MTHFR SERPINE1
40 raynaud phenomenon 10.1 APOH HTR2A
41 mesenteric vascular occlusion 10.1 F2 MTHFR
42 ischemic neuropathy 10.1 F2 MTHFR
43 quebec platelet disorder 10.1 PLAU SERPINE1
44 conjunctivochalasis 10.1 MMP3 PLAU
45 porencephaly 10.1 F2 MTHFR
46 atherosclerosis susceptibility 10.1 NOS3 SELE SERPINE1
47 intracranial thrombosis 10.1 APOH MTHFR
48 marantic endocarditis 10.1 F2 MTHFR
49 gastroschisis 10.1 F2 MTHFR
50 polyarteritis nodosa 10.1 APOH SELE

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

Symptoms via clinical synopsis from OMIM:

57
Limbs:
pain
coldness
raynaud's phenomenon
hyperhydrosis

Skin:
red, elevated areas over venous valves
digital ulcers


Clinical features from OMIM:

211480

Human phenotypes related to Buerger Disease:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000975
2 arthralgia 59 32 frequent (33%) Frequent (79-30%) HP:0002829
3 acrocyanosis 59 32 frequent (33%) Frequent (79-30%) HP:0001063
4 skin ulcer 59 32 hallmark (90%) Very frequent (99-80%) HP:0200042
5 paresthesia 59 32 frequent (33%) Frequent (79-30%) HP:0003401
6 vasculitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002633
7 insomnia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100785
8 arterial thrombosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004420
9 gangrene 59 32 hallmark (90%) Very frequent (99-80%) HP:0100758
10 sensory neuropathy 59 Very frequent (99-80%)
11 pain 32 HP:0012531
12 raynaud phenomenon 32 HP:0030880
13 limb pain 32 HP:0009763

MGI Mouse Phenotypes related to Buerger Disease:

46
# 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 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citric Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 77-92-9 311
2 Anesthetics Phase 1, Phase 2,Phase 2
3 Pharmaceutical Solutions Phase 1, Phase 2
4 Citrate Phase 1, Phase 2
5 Anticoagulants Phase 2
6 Vasodilator Agents Phase 2
7
Bosentan Approved, Investigational 147536-97-8 104865
8 Antihypertensive Agents
9 Endothelin Receptor Antagonists

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 73 / NDF-RT 51 :


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:

41
Skin, Bone, Spinal Cord, Heart, Endothelial, Bone Marrow, Placenta
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 418)
# Title Authors Year
1
Four-extremity salvage with long vein grafts in buerger disease. ( 29076321 )
2018
2
Vascular Changes of Complex Regional Pain Syndrome Unmask Buerger's Disease (Thromboangiitis Obliterans): A Letter to the Editor. ( 29800280 )
2018
3
Three cases of dorsal metatarsal artery bypass in patients with Buerger disease. ( 30148235 )
2018
4
Performance of noninvasive laser Doppler flowmetry and laser speckle contrast imaging methods in diagnosis of Buerger disease: A case report. ( 30412126 )
2018
5
Outcomes of endovascular treatment versus bypass surgery for critical limb ischemia in patients with thromboangiitis obliterans. ( 30300407 )
2018
6
Autologous bone marrow-derived mononuclear cell therapy in Chinese patients with critical limb ischemia due to thromboangiitis obliterans: 10-year results. ( 29471870 )
2018
7
Endovascular Treatment of Thromboangiitis Obliterans (Buerger's Disease). ( 29237360 )
2018
8
The IL-6/STAT3 pathway regulates adhesion molecules and cytoskeleton of endothelial cells in thromboangiitis obliterans. ( 29339086 )
2018
9
How to Treat a Patient with Thromboangiitis Obliterans: A Systematic Review. ( 29421414 )
2018
10
Effect of revascularization on IL-6 and TNF-α in patients with thromboangiitis obliterans. ( 29556267 )
2018
11
Hyperbaric oxygen treatment in thromboangiitis obliterans: a retrospective clinical audit. ( 29557099 )
2018
12
The Status of Nitric Oxide and its Backup, Heme Oxygenase 1, in Thromboangiitis Obliterans. ( 29766003 )
2018
13
Treatment of multiple refractory ankle ulcerations in thromboangiitis obliterans: A case report. ( 29768374 )
2018
14
Sequential intravenous allogeneic mesenchymal stromal cells as a potential treatment for thromboangiitis obliterans (Buerger's disease). ( 29848379 )
2018
15
Cilostazol on the expression of ICAM-1, VCAM-1 and inflammatory factors in plasma in patients with thromboangiitis obliterans. ( 30186478 )
2018
16
Alleviation of A disintegrin and metalloprotease 10 (ADAM10) on thromboangiitis obliterans involves the HMGB1/RAGE/ NF-κB pathway. ( 30245136 )
2018
17
Thromboangiitis obliterans episode: autoimmune flare-up or reinfection? ( 30319267 )
2018
18
Thromboangiitis obliterans - what do we know 110 years after the description of the disease by Leo Buerger. ( 30345778 )
2018
19
Stem cell therapy for treatment of thromboangiitis obliterans (Buerger's disease). ( 30378681 )
2018
20
Effects of aspirin combined with cilostazol on thromboangiitis obliterans in diabetic patients. ( 30546409 )
2018
21
Endothelial dysfunction in patients with Buerger disease. ( 28860792 )
2017
22
Immediate and late outcomes of endovascular therapy for lower extremity arteries in Buerger disease. ( 29157680 )
2017
23
Buerger Disease (Thromboangiitis Obliterans) ( 28613608 )
2017
24
Retinal Artery Occlusion Secondary to Buerger's Disease (Thromboangiitis Obliterans). ( 28491481 )
2017
25
Endovascular Therapy Outcomes and Intravascular Ultrasound Findings in Thromboangiitis Obliterans (Buerger's Disease). ( 28743226 )
2017
26
Outcomes of endovascular recanalization versus autogenous venous bypass for thromboangiitis obliterans patients with critical limb ischemia due to tibioperoneal arterial occlusion. ( 28697938 )
2017
27
Very distal vein bypass in patients with thromboangiitis obliterans. ( 28271745 )
2017
28
Efficacy of Endovascular Radiofrequency Ablation for Thromboangiitis Obliterans (Buerger's Disease). ( 28341508 )
2017
29
Sympathetic Denervation Using Endovascular Radiofrequency Ablation in Patients with Thromboangiitis Obliterans (Buerger's Disease). ( 28688879 )
2017
30
Conservative treatment of patients with thromboangiitis obliterans or cannabis-associated arteritis presenting with critical lower limb ischaemia. ( 28753096 )
2017
31
Treatment of Thromboangiitis Obliterans Using Smoking Cessation and Far-infrared Therapy: A Case Study. ( 28759424 )
2017
32
Pathogenesis of thromboangiitis obliterans: Gene polymorphism and immunoregulation of human vascular endothelial cells. ( 28864202 )
2017
33
Successful Percutaneous Transcatheter Angioplasty of Radial Artery in Thromboangiitis Obliterans (Buerger's Disease). ( 28917511 )
2017
34
Unexpected Inflammation in the Sympathetic Ganglia in Thromboangiitis Obliterans. ( 29142485 )
2017
35
Smoking, Periodontitis, and Buerger Disease. ( 26965810 )
2016
36
Efficacy of bosentan in patients with refractory thromboangiitis obliterans (Buerger disease): A case series and review of the literature. ( 27902617 )
2016
37
[Thromboangiitis obliterans (Buerger's disease): state of the art]. ( 27935900 )
2016
38
Autologous peripheral blood stem cell transplantation to treat thromboangiitis obliterans: preliminary results. ( 26914127 )
2016
39
Corkscrew Collateral Vessels in Buerger Disease: Vasa Vasorum or Vasa Nervorum. ( 27013404 )
2016
40
Thromboangiitis obliterans (Buerger's disease). ( 27144003 )
2016
41
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
42
The Epidemiologic and Clinical Findings of Patients with Buerger Disease. ( 26370744 )
2016
43
Association Between Three SNPs and Thromboangiitis Obliterans in Xinjiang Uyghur Population. ( 26829209 )
2016
44
The Incidence and Prevalence of Thromboangiitis Obliterans in Taiwan: A Nationwide, Population-based Analysis of Data Collected from 2002 to 2011. ( 27464297 )
2016
45
Vasa Nervorum as the Source of Corkscrew Collaterals in Thromboangiitis Obliterans (Buerger's Disease). ( 27515062 )
2016
46
Investigation of the Etiology of Anemia in Thromboangiitis Obliterans. ( 27574381 )
2016
47
Hyperbaric Oxygen Therapy in the Treatment of Fontaine Stage IV Thromboangiitis Obliterans. ( 27647524 )
2016
48
Hypoxia-inducible factor-1I+ expression in the different stages of rat thromboangiitis obliterans. ( 26125880 )
2015
49
Mechanisms of thrombosis, available treatments and management challenges presented by thromboangiitis obliterans. ( 25921644 )
2015
50
Effect of a Low-Intensity Pulsed Ultrasound Device, SX-1001, on Clinical Symptoms in Buerger Disease With Limb Ischemia. ( 26549399 )
2015

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 hypoxia GO:0001666 9.56 ITGA2 MMP3 MTHFR PLAU
4 response to interleukin-1 GO:0070555 9.55 MTHFR SELE
5 activation of phospholipase C activity GO:0007202 9.54 HTR2A SELE
6 positive regulation of collagen biosynthetic process GO:0032967 9.51 F2 ITGA2
7 blood coagulation, intrinsic pathway GO:0007597 9.49 APOH F2
8 negative regulation of blood coagulation GO:0030195 9.48 APOH SERPINE1
9 regulation of blood coagulation GO:0030193 9.46 APOH F2
10 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.43 HTR2A ITGA2
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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