ITP
MCID: ATM004
MIFTS: 68

Autoimmune Thrombocytopenic Purpura (ITP) malady

Immune diseases, Blood diseases categories

Summaries for Autoimmune Thrombocytopenic Purpura

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8Disease Ontology, 42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Idiopathic thrombocytopenic purpura (itp) is a bleeding disorder characterized by too few platelets in the blood. this is because platelets are being destroyed by the immune system. symptoms may include bruising, nosebleed or bleeding in the mouth, bleeding into the skin, and abnormally heavy menstruation. with treatment, the chance of remission (a symptom-free period) is good. rarely, itp may become a chronic ailment in adults and reappear, even after remission. last updated: 4/22/2011

MalaCards: Autoimmune Thrombocytopenic Purpura, also known as thrombocytopenic purpura, autoimmune, is related to purpura and thrombocytopenia. An important gene associated with Autoimmune Thrombocytopenic Purpura is FCGR2C (Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene)), and among its related pathways are Malaria and Primary immunodeficiency. The drugs immunoglobulins, intravenous and cyclophosphamide and the compounds aspartate and gamma globulin have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and skin, and related mouse phenotypes are integument and cellular.

Disease Ontology:8 A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies.

Description from OMIM:46 188030

Aliases & Classifications for Autoimmune Thrombocytopenic Purpura

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Immune diseases, Blood diseases


Characteristics (Orphanet epidemiological data):

48
thrombocytopenic purpura, autoimmune:
Inheritance: Sporadic; Prevalence: 1-5/10000; Age of onset: Variable


Aliases & Descriptions:

autoimmune thrombocytopenic purpura 8 42 10
thrombocytopenic purpura, autoimmune 9 46 48
immune thrombocytopenic purpura 8 48 60
idiopathic thrombocytopenic purpura 8 42
itp 42 48
thrombocytopenia due to platelet alloimmunization 60
purpura, thrombocytopenic, idiopathic 60
thrombocytopenic purpura autoimmune 42
purpura thrombocytopenic idiopathic 44
primary thrombocytopenic purpura 8
immune thrombocytopenia 48


External Ids:

Disease Ontology8 DOID:8924
NCIt39 C3446
OMIM46 188030
MeSH34 D016553
MESH via Orphanet35 D016553
ICD10 via Orphanet26 D69.3
SNOMED-CT via Orphanet57 234490009, 32273002
UMLS via Orphanet61 C0398650
ICD1025 D69.3

Related Diseases for Autoimmune Thrombocytopenic Purpura

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Autoimmune Thrombocytopenic Purpura via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 312)
idRelated DiseaseScoreTop Affiliating Genes
1purpura32.0ADAMTS13, THPO, CD79A
2thrombocytopenia30.8IFNA2, ADAMTS13, SELP, THPO, NAAA, RECK
3hepatitis30.7IFNA2, IFNA1, THPO, SELP
4graves' disease30.6CD40, IL2RA
5lupus erythematosus30.6CD40LG, CD79A
6hepatitis c30.6IFNA2, IFNA1, CD40LG, THPO
7systemic lupus erythematosus30.6IFNA1, MPL, CD40, CD40LG, CD79A, RECK
8autoimmune hemolytic anemia30.5CD79A, CD40LG
9evans' syndrome30.5ADAMTS13
10disseminated intravascular coagulation30.5ADAMTS13, THPO
11glomerulonephritis30.4CD79A, CD40LG
12neuropathy30.4CD79A
13ulcerative colitis30.4CD79A, IL2RA, THPO, SELP
14leukemia30.4IFNA2, IFNA1, ITGB3, ITGA2B, MPL, CD40
15hyperthyroidism30.3CD40
16sarcoma30.2RECK, THPO
17hypothyroidism30.2IFNA1
18mumps30.2CD79A
19kaposi's sarcoma30.2IFNA1
20chronic lymphocytic leukemia30.2CD40, CD40LG, IL2RA, THPO
21portal vein thrombosis30.2THPO
22arteriosclerosis30.2CD40
23stroke, ischemic30.2ITGA2B
24thrombocytosis30.2IFNA2, IFNA1, MPL, THPO, SELP
25acute leukemia30.2THPO, MPL
26vasculitis30.2SELP, CD79A, CD40LG, IFNA2
27polycythemia30.2THPO, MPL, ITGB3
28meningitis30.2CD79A
29viral hepatitis30.2IFNA2, IFNA1
30thrombocytopenia due to platelet alloimmunization30.2ITGA2B, MPL, THPO, SELP
31acute lymphocytic leukemia30.2THPO, RECK, CD40, MPL
32nephrotic syndrome30.2IL2RA, CD79A
33thyroiditis30.2IFNA1, CD79A
34celiac disease30.2CD79A
35bernard-soulier syndrome30.2ITGB3, ITGA2B, ITGA2, RECK, THPO
36pneumonia30.2CD79A, CD40
37rubella30.2CD79A, CD40LG
38neutropenia30.2IFNA2, IFNA1, MPL, CD40, THPO
39brucellosis30.2ITGA2, CD79A
40antiphospholipid syndrome30.2CD40LG, CD79A, SELP, ADAMTS13
41measles30.2RECK, CD79A, CD40LG
42polycythemia vera30.2IFNA2, IFNA1, ITGB3, MPL, THPO, SELP
43liver cirrhosis30.2IFNA2, IFNA1, THPO, ADAMTS13
44common variable immune deficiency30.2CD40, CD40LG, CD79A, IL2RA
45myocardial infarction30.2ITGB3, ITGA2B, ITGA2, RECK, SELP, ADAMTS13
46diabetes mellitus30.2ITGA2B, ITGA2, CD40LG, CD79A, RECK, SELP
47deficiency anemia30.2IFNA2, IFNA1, MPL, CD79A, NAAA, THPO
48sarcoidosis30.1SELP, IL2RA
49infectious mononucleosis30.1CD40LG, CD79A
50myeloid leukemia29.9THPO, MPL

Graphical network of the top 20 diseases related to Autoimmune Thrombocytopenic Purpura:



Diseases related to autoimmune thrombocytopenic purpura

Clinical Features for Autoimmune Thrombocytopenic Purpura

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Sources:
46OMIM
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Clinical features from OMIM:

188030

Clinical synopsis from OMIM:

188030

Drugs & Therapeutics for Autoimmune Thrombocytopenic Purpura

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Autoimmune Thrombocytopenic Purpura

Drug clinical trials:

Search ClinicalTrials for Autoimmune Thrombocytopenic Purpura

Search NIH Clinical Center for Autoimmune Thrombocytopenic Purpura

Search CenterWatch for Autoimmune Thrombocytopenic Purpura

Inferred drug relations via UMLS60/NDF-RT40:

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Genetic Tests for Autoimmune Thrombocytopenic Purpura

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Anatomical Context for Autoimmune Thrombocytopenic Purpura

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32MalaCards
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MalaCards organs/tissues related to Autoimmune Thrombocytopenic Purpura:

32
Bone marrow, Bone, Skin, T cells, Spleen, Liver, Thyroid, Breast, B cells

Animal Models for Autoimmune Thrombocytopenic Purpura or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Autoimmune Thrombocytopenic Purpura:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107719.0RECK, CD40LG, ITGA2, FOXG1
2MP:00053848.0FOXG1, MPL, POU2F3, CD40, CD79A, IL2RA
3MP:00053877.7MPL, ITGA2B, ITGB3, FOXG1, CD40, CD40LG
4MP:00053767.5FOXG1, ITGB3, ITGA2B, ITGA2, MPL, CD40
5MP:00053977.4ADAMTS13, FOXG1, ITGB3, ITGA2B, ITGA2, MPL

Publications for Autoimmune Thrombocytopenic Purpura

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Sources:
50PubMed
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Articles related to Autoimmune Thrombocytopenic Purpura:

(show top 50)    (show all 235)
idTitleAuthorsYear
1
Autoimmune hepatitis-primary biliary cirrhosis overlap syndrome concomitant with immune hemolytic anemia and immune thrombocytopenic purpura (Evans syndrome). (23273499)
2013
2
Rituximab in a child with autoimmune thrombotic thrombocytopenic purpura refractory to plasma exchange. (22552883)
2012
3
Autoimmune disorders in patients with idiopathic thrombotic thrombocytopenic purpura. (22960981)
2012
4
Polymyositis associated with autoimmune hepatitis, primary biliary cirrhosis, and autoimmune thrombocytopenic purpura. (21240621)
2011
5
The isotype of autoantibodies influences the phagocytosis of antibody-coated platelets in autoimmune thrombocytopenic purpura. (21790706)
2011
6
Autoimmune thrombocytopenic purpura in partial DiGeorge syndrome: case presentation. (21792043)
2011
7
Autoimmune thrombocytopenic purpura during pegylated interferon I+ treatment for chronic hepatitis C. (20558927)
2010
8
Splenic macrophages maintain the anti-platelet autoimmune response via uptake of opsonized platelets in patients with immune thrombocytopenic purpura. (18826388)
2009
9
A high rate of CLL phenotype lymphocytes in autoimmune hemolytic anemia and immune thrombocytopenic purpura. (18166805)
2008
10
Rituximab responsive immune thrombocytopenic purpura in an adult with underlying autoimmune lymphoproliferative syndrome due to a splice-site mutation (IVS7+2 T>C) affecting the Fas gene. (17725802)
2007
11
Crohn's disease associated with severe autoimmune thrombocytopenic purpura. (17119395)
2006
12
Efficiency of rituximab in the treatment of autoimmune thrombocytopenic purpura associated with common variable immunodeficiency. (16823831)
2006
13
Intravenous immunoglobulin for autoimmune thrombocytopenic purpura. (15866702)
2005
14
Autoimmune thrombocytopenic purpura after mumps infection. (16250314)
2005
15
Severe autoimmune thrombocytopenic purpura during interferon-alpha therapy for chronic myelogenous leukemia. (15564735)
2004
16
Refractory autoimmune thrombocytopenic purpura: responses to treatment with a recombinant antibody to lymphocyte membrane antigen CD20 (rituximab). (14635207)
2003
17
Splenunculectomy in autoimmune thrombocytopenic purpura. (14616992)
2003
18
Treatment of severe autoimmune thrombocytopenic purpura. (12103321)
2002
19
Transradial coronary stent placement in a patient with severe idiopathic autoimmune thrombocytopenic purpura. (10904444)
2000
20
Screening for autoimmune markers is unnecessary during follow-up of adults with autoimmune thrombocytopenic purpura and no autoimmune markers at onset. (10669152)
2000
21
Can drugs cause autoimmune thrombocytopenic purpura? (10942217)
2000
22
Splenectomy during pregnancy: an option in the treatment of autoimmune thrombocytopenic purpura. (10426247)
1999
23
Long-term follow-up of autoimmune thrombocytopenic purpura (ATP) patients submitted to splenectomy. (10227454)
1999
24
Plasma autoantibodies against platelet glycoprotein IIb/IIIa from patients with autoimmune thrombocytopenic purpura may recognize different antigenic determinants. (9820627)
1998
25
Autoimmune thrombocytopenic purpura and dermatomyositis associated with chronic hepatitis C. A therapeutic dilemma. (10349207)
1998
26
Differences in serum cytokine levels in acute and chronic autoimmune thrombocytopenic purpura: relationship to platelet phenotype and antiplatelet T-cell reactivity. (8639783)
1996
27
Autoimmune thrombocytopenic purpura. (7741979)
1995
28
Natural killer cell numbers and activity in patients with chronic autoimmune thrombocytopenic purpura. (8298145)
1994
29
Awake, blind nasotracheal intubation for cesarean section in a patient with autoimmune thrombocytopenic purpura and iatrogenic Cushing's syndrome. (8214677)
1993
30
Anti-glycoprotein IIb/IIIa autoantibodies are reversibly internalized into platelets in idiopathic (autoimmune) thrombocytopenic purpura. (1467434)
1992
31
Autoimmune thrombocytopenic purpura: maternal and fetal disease. (1396227)
1992
32
Misdiagnosis of a normal fetal platelet count after coagulation of intrapartum scalp samples in autoimmune thrombocytopenic purpura. (1760060)
1991
33
Human monoclonal antibody derived from an autoimmune thrombocytopenic purpura patient, recognizing an intermediate filament's determinant common to vimentin and desmin. (1689230)
1990
34
Platelet destruction in autoimmune thrombocytopenic purpura: kinetics and clearance of indium-111-labeled autologous platelets. (2497234)
1989
35
Autoimmune thrombocytopenic purpura (AITP) in Zimbabwe. (2635447)
1989
36
Effect of thymectomy on myasthenia gravis and autoimmune thrombocytopenic purpura in a 13-year-old girl. (2962873)
1987
37
Cartilage hair hypoplasia with thrombocytopenic purpura, autoimmune haemolytic anaemia and cell-mediated immunodeficiency. (3950893)
1986
38
Autoimmune thrombocytopenic purpura. (2413550)
1985
39
Platelet function in idiopathic (autoimmune) thrombocytopenic purpura. (4077821)
1985
40
Plasma exchange in autoimmune thrombocytopenic purpura. (6684835)
1983
41
Chronic autoimmune thrombocytopenic purpura. A 3-year study. (6576288)
1983
42
Autoimmune thrombocytopenic purpura. Comparison of three different methods for the detection of platelet antibodies. (6682624)
1983
43
Chronic autoimmune thrombocytopenic purpura associated with haemophilia A. (6892061)
1982
44
Autoimmune thrombocytopenic purpura in homosexual men. (6178333)
1982
45
Abnormal autologous mixed lymphocyte reaction in autoimmune thrombocytopenic purpura. (6459139)
1982
46
Autoimmune thrombocytopenic purpura-like syndrome in a patient with head and neck cancer. (7193267)
1981
47
Heavy-chain subclass of round antiplatelet IgG in autoimmune thrombocytopenic purpura. (6770931)
1980
48
Heterogeneity of human platelets. VII. Platelet monoamine oxidase activity in normals and patients with autoimmune thrombocytopenic purpura and reactive thrombocytosis: its relationship to platelet protein density. (563748)
1978
49
Letter: Autoimmune thrombocytopenic purpura in Hodgkin's disease. (4857630)
1974
50
SOME OBSERVATIONS ON THE SPLENIC PATHOLOGY IN AUTOIMMUNE THROMBOCYTOPENIC PURPURA. (14329496)
1965

Genetic Variations for Autoimmune Thrombocytopenic Purpura

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Expression for genes affiliated with Autoimmune Thrombocytopenic Purpura

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Autoimmune Thrombocytopenic Purpura

Search GEO for disease gene expression data for Autoimmune Thrombocytopenic Purpura.

Pathways for genes affiliated with Autoimmune Thrombocytopenic Purpura

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Sources:
29KEGG, 53Reactome, 37NCBI BioSystems Database, 49PharmGKB, 51QIAGEN
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Pathways related to Autoimmune Thrombocytopenic Purpura according to GeneCards/GeneDecks:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3CD40
210.1CD79A
3
Hide members
9.8ITGB3, ITGA2B, SELP
49.7ITGB3, CD40LG, SELP
59.7ITGA2, ITGA2B, ITGB3
69.7ITGA2, ITGA2B, ITGB3
79.7ITGB3, ITGA2B, ITGA2
89.7CD40, CD40LG, IL2RA
9
Hide members
9.6THPO, MPL, ITGA2B, ITGB3
10
Hide members
9.2IFNA1, MPL, CD40, IL2RA
11
Hide members
9.2THPO, IL2RA, ITGA2, ITGA2B, ITGB3
129.2ITGB3, ITGA2B, ITGA2, IL2RA, THPO
139.1IFNA2, IFNA1, MPL, IL2RA
14
Hide members
8.8THPO, IL2RA, CD79A, ITGA2, ITGA2B, ITGB3
15
Hide members
8.8ITGB3, ITGA2B, ITGA2, CD79A, IL2RA, THPO
16
Hide members
8.8IFNA2, IFNA1, CD40, CD40LG, IL2RA
17
Hide members
8.6IFNA2, IFNA1, ITGB3, ITGA2B, ITGA2, MPL
188.6IFNA2, IFNA1, ITGB3, ITGA2B, ITGA2, IL2RA
19
Hide members
8.5IFNA2, IFNA1, CD40, CD40LG, CD79A, IL2RA
20
Hide members
8.1THPO, IFNA2, IFNA1, ITGB3, ITGA2B, ITGA2

Compounds for genes affiliated with Autoimmune Thrombocytopenic Purpura

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 59Tocris Bioscience, 28IUPHAR, 49PharmGKB
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Compounds related to Autoimmune Thrombocytopenic Purpura according to GeneCards/GeneDecks:

(show top 50)    (show all 129)
idCompoundScoreTop Affiliating Genes
1aspartate4410.5CD40LG
2gamma globulin4410.5IFNA2
3estrogen4410.2CD79A, THPO
4daclizumab44 1110.9FCGR2C, IL2RA, CD40LG
5blys449.9CD40, CD40LG, CD79A
6hydroxychloroquine44 1110.8IFNA2, CD40LG, IL2RA
7creatinine449.7CD79A, THPO, SELP, ADAMTS13
8thromboxane44 2410.7SELP, THPO, MPL, ITGA2
9pentostatin44 59 28 1112.7IFNA2, IFNA1, IL2RA
10tuberculin449.6IL2RA, CD79A, CD40LG
11ivig449.6IL2RA, CD79A, CD40LG, CD40
12anagrelide44 1110.6IFNA2, IFNA1, MPL, THPO
13agar449.6MPL, CD79A, THPO
14tirofiban44 1110.6ITGB3, ITGA2B, ITGA2, CD40LG, SELP
15clopidogrel49 44 11 2412.6ITGB3, ITGA2, CD40, CD40LG, SELP
16adp44 28 2411.5ITGA2B, ITGA2, MPL, CD40, CD40LG
17ristocetin449.5ITGB3, RECK, SELP, ADAMTS13
18abciximab44 1110.5ITGB3, ITGA2B, CD40, CD40LG, FCGR2C, SELP
19reticulin449.5CD79A, MPL, IFNA1
20theophylline44 28 11 2412.4CD40LG, CD79A, IL2RA, SELP
21alemtuzumab44 1110.4CD40LG, IL2RA, FCGR2C
22mizoribine449.4IFNA2, IFNA1, CD79A, IL2RA
23formaldehyde44 2410.4ITGA2B, CD40LG, CD79A, IL2RA, SELP
24dexamethasone44 49 28 1112.3IFNA1, CD40LG, CD79A
25rantes449.3IFNA1, CD40, CD40LG, IL2RA, THPO
26cyclophosphamide44 49 1111.2ADAMTS13, IL2RA, CD40, IFNA1, IFNA2
27prednisolone44 28 1111.1IFNA2, IFNA1, CD40, CD79A, IL2RA
28thalidomide44 49 59 1112.0IL2RA, CD40LG, IFNA1, IFNA2
29mycophenolate mofetil44 49 1110.9IFNA1, CD40, CD40LG, CD79A, IL2RA, SELP
30phosphatidylserine44 28 1110.9ITGB3, CD40LG, CD79A, RECK, SELP
31polyethylene glycol448.9IFNA2, IFNA1, MPL, CD40LG, CD79A, THPO
325fluorouracil448.9THPO, IL2RA, MPL, IFNA1, IFNA2
33histamine44 28 2410.9IFNA2, CD40, CD40LG, CD79A, IL2RA, THPO
34neopterin448.9IFNA2, IFNA1, CD40, CD40LG, CD79A, IL2RA
35vincristine44 49 1110.8IFNA2, IFNA1, RECK, IL2RA, ADAMTS13
36steroid448.8IFNA2, ITGB3, CD40, CD79A, IL2RA, THPO
37epinephrine44 11 2410.8IFNA2, ITGA2, CD40LG, CD79A, IL2RA, THPO
38arachidonic acid44 28 11 2411.7IFNA2, ITGA2B, ITGA2, RECK, THPO, SELP
39aspirin44 49 28 2411.7ITGB3, ITGA2, MPL, CD40LG, CD79A, IL2RA
40doxorubicin44 49 1110.5IFNA2, IFNA1, CD40, CD40LG, RECK, IL2RA
41polysaccharide448.5ITGA2, CD40LG, CD79A, RECK, IL2RA, THPO
42rituximab44 49 1110.5ADAMTS13, IFNA2, IFNA1, CD40, CD40LG, CD79A
43lysine448.4IFNA2, ITGB3, ITGA2B, ITGA2, MPL, RECK
44cyclosporin a44 28 5910.0IFNA1, CD40, CD40LG, CD79A, RECK, IL2RA
45fibrinogen447.9ITGB3, ITGA2B, ITGA2, CD40, CD40LG, CD79A
46vegf447.9IFNA2, IFNA1, MPL, CD40, CD79A, RECK
47retinoic acid44 248.5IFNA2, IFNA1, ITGA2, POU2F3, CD40, CD40LG
48tyrosine447.4IFNA2, IFNA1, ITGB3, ITGA2, MPL, CD40
49heparin44 28 11 2410.4ITGA2, POU2F3, CD40LG, CD79A, RECK, IL2RA
50cysteine447.3IFNA2, ITGB3, ITGA2B, ITGA2, MPL, CD40

GO Terms for genes affiliated with Autoimmune Thrombocytopenic Purpura

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16Gene Ontology
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Cellular components related to Autoimmune Thrombocytopenic Purpura according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule membraneGO:0310929.7SELP, ITGA2B, ITGB3
2integrin complexGO:0083059.4ITGB3, ITGA2B, ITGA2
3external side of plasma membraneGO:0098978.5SELP, ITGA2B, ITGA2, CD40, CD40LG, CD79A
4plasma membraneGO:0058867.2ITGA2B, ITGA2, MPL, CD40, CD40LG, CD79A

Biological processes related to Autoimmune Thrombocytopenic Purpura according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1regulation of immunoglobulin secretionGO:05102310.0CD40LG, CD40
2positive regulation of endothelial cell apoptotic processGO:200035310.0CD40LG, CD40
3B cell proliferationGO:0421009.8CD79A, CD40LG, CD40
4platelet degranulationGO:0025769.7ITGB3, ITGA2B, SELP
5integrin-mediated signaling pathwayGO:0072299.6ITGB3, ITGA2B, ITGA2, ADAMTS13
6cell-matrix adhesionGO:0071609.5ITGB3, ITGA2B, ITGA2, ADAMTS13
7inflammatory responseGO:0069549.4SELP, CD40LG, CD40, IFNA2
8blood coagulationGO:0075968.9IFNA2, ITGB3, ITGA2B, ITGA2, MPL, THPO
9platelet activationGO:0301688.8ADAMTS13, ITGB3, ITGA2B, MPL, CD40, CD40LG
10extracellular matrix organizationGO:0301988.8RECK, ITGA2, ITGA2B, ITGB3

Products for genes affiliated with Autoimmune Thrombocytopenic Purpura

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Autoimmune Thrombocytopenic Purpura

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet