MCID: PRM225
MIFTS: 39

Primary Thrombocytopenia

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Infectious diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Primary Thrombocytopenia

Summaries for Primary Thrombocytopenia

MalaCards based summary: Primary Thrombocytopenia is related to bleeding disorder, platelet-type, 16 and autosomal dominant macrothrombocytopenia. An important gene associated with Primary Thrombocytopenia is ICOSLG (Inducible T Cell Costimulator Ligand), and among its related pathways/superpathways are Innate Immune System and Akt Signaling. The drugs Dimethyl sulfoxide and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, spleen and bone, and related phenotypes are no effect and no effect

Related Diseases for Primary Thrombocytopenia

Diseases in the Thrombocytopenia family:

Thrombocytopenia 2 Thrombocytopenia 3
Thrombocytopenia 1 Thrombocytopenia 4
Thrombocytopenia 5 Thrombocytopenia 6
Thrombocytopenia 7 Acquired Thrombocytopenia
Thrombocytopenia Due to Platelet Alloimmunization Primary Thrombocytopenia
Ankrd26-Related Thrombocytopenia

Diseases related to Primary Thrombocytopenia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 522)
# Related Disease Score Top Affiliating Genes
1 bleeding disorder, platelet-type, 16 30.6 ITGB3 ITGA2B
2 autosomal dominant macrothrombocytopenia 30.6 ITGB3 ITGA2B
3 thrombocytopenic purpura, autoimmune 30.1 THPO PF4 MPL LRBA ITGB3 ITGA2B
4 essential thrombocythemia 29.9 VWF THPO PF4 MPL ITGB3 ITGA2B
5 thrombophilia due to thrombin defect 29.8 VWF PF4 F3 F2
6 thrombocythemia 1 29.8 THPO MPL
7 myeloproliferative neoplasm 29.8 VWF THPO PF4 MPL ITGB3
8 thrombocytosis 29.7 VWF THPO PF4 MPL F3 F2
9 myelodysplastic syndrome 29.6 THPO MPL ICOSLG CD8A CD4 CD19
10 thrombosis 29.4 VWF PF4 MPL ITGB3 ITGA2B F3
11 thrombocytopenia 28.9 VWF TNFSF13B THPO PF4 MPL ITGB3
12 hilar lung neoplasm 10.4 CD8A CD4
13 dyskeratosis congenita, autosomal dominant 6 10.4 THPO MPL
14 oral tuberculosis 10.4 CD8A CD4
15 early yaws 10.4 CD8A CD4
16 fetal and neonatal alloimmune thrombocytopenia 10.4 ITGB3 ITGA2B
17 ventilation pneumonitis 10.4 CD8A CD4
18 diffuse infiltrative lymphocytosis syndrome 10.4 CD8A CD4
19 wissler-fanconi syndrome 10.4 CD8A CD4
20 basilar artery occlusion 10.4 ITGA2B F3
21 autoimmune lymphoproliferative syndrome, type iia 10.4 CD8A CD4
22 achenbach syndrome 10.4 F3 F2
23 encephalitozoonosis 10.4 CD8A CD4
24 type 1 diabetes mellitus 23 10.4 CD8A CD4
25 pollen allergy 10.4 ICOSLG CD4 CCR6
26 cork-handlers' disease 10.4 CD8A CD4
27 legume allergy 10.4 ICOSLG CD4 CCR6
28 fruit allergy 10.4 ICOSLG CD4 CCR6
29 myelitis 10.4 ITGB3 ITGA2B CCR6
30 peanut allergy 10.4 ICOSLG CD4 CCR6
31 chronic conjunctivitis 10.4 ICOSLG CD4 CCR6
32 congenital hypogammaglobulinemia 10.4 CD4 CD19
33 amegakaryocytic thrombocytopenia, congenital 10.4 THPO MPL ITGA2B
34 synovial angioma 10.4 F3 F2
35 acute asthma 10.4 ICOSLG CD4 CCR6
36 intestinal schistosomiasis 10.4 ICOSLG CD4 CCR6
37 thymic dysplasia 10.4 ICOSLG CD8A CD4
38 malignant gastric germ cell tumor 10.4 ITGB3 ITGA2B
39 childhood type dermatomyositis 10.4 ICOSLG CD4 CCR6
40 autoimmune peripheral neuropathy 10.4 ICOSLG CD8A CD4
41 autoimmune pancreatitis 10.4 ICOSLG CD4 CCR6
42 follicular mucinosis 10.4 CD8A CD4
43 emphysematous cholecystitis 10.4 F3 F2
44 posterior uveitis 10.4 ICOSLG CD4 CCR6
45 autoimmune polyendocrine syndrome type 1 10.4 ICOSLG CD4 CCR6
46 femoral neuropathy 10.4 F3 F2
47 immunodeficiency 13 10.4 ICOSLG CD8A CD4
48 suppurative lymphadenitis 10.4 CD8A CD4
49 blue toe syndrome 10.4 F3 F2
50 henoch-schoenlein purpura 10.4 ICOSLG CD4 CCR6

Comorbidity relations with Primary Thrombocytopenia via Phenotypic Disease Network (PDN):


Acquired Thrombocytopenia Active Peptic Ulcer Disease
Acute Cystitis Deficiency Anemia
Familial Atrial Fibrillation Heart Disease
Hypersplenism Hypothyroidism
Neutropenia Retinitis Pigmentosa and Erythrocytic Microcytosis

Graphical network of the top 20 diseases related to Primary Thrombocytopenia:



Diseases related to Primary Thrombocytopenia

Symptoms & Phenotypes for Primary Thrombocytopenia

GenomeRNAi Phenotypes related to Primary Thrombocytopenia according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.17 ADAMTS13 CCR6 CD19 CD4 CD52 CD8A
2 no effect GR00402-S-2 10.17 ADAMTS13 CCR6 CD19 CD4 F2 F3

MGI Mouse Phenotypes related to Primary Thrombocytopenia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.25 ADAMTS13 CCR6 CD19 CD4 F2 F3
2 normal MP:0002873 10.07 ADAMTS13 CCR6 CD19 CD52 CD8A F2
3 cellular MP:0005384 9.93 CD19 CD4 CD8A F2 F3 FCGR2A
4 digestive/alimentary MP:0005381 9.91 CD19 CD4 F2 FCGR2A FCGR2B ITGA2B
5 immune system MP:0005387 9.91 ADAMTS13 CCR6 CD19 CD4 CD8A F2
6 hematopoietic system MP:0005397 9.6 ADAMTS13 CCR6 CD19 CD4 CD8A F2

Drugs & Therapeutics for Primary Thrombocytopenia

Drugs for Primary Thrombocytopenia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dimethyl sulfoxide Approved, Vet_approved Phase 4 67-68-5 679
2 Protective Agents Phase 4
3 Antioxidants Phase 4
4 Antibodies Phase 3
5 Pharmaceutical Solutions Phase 3
6 Immunoglobulins, Intravenous Phase 3
7 Immunoglobulins Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Experimental Protocol for the Infusion of Platelets,Cryopreserved With Dimethyl Sulphoxide (DMSO) and Obtained From Multiple Donors Buffy Coats, in Patients With Severe Thrombocytopenia Terminated NCT02032134 Phase 4
2 Prospective, Open-label, Non-controlled, Multicenter, Phase III Clinical Study to Evaluate the Efficacy and Safety of Immunoglobulin Intravenous (Human) 10% (NewGam) in Primary Immune Thrombocytopenia Completed NCT01349790 Phase 3 NewGam
3 Use of TPO-mimetics to Prepare for Splenectomy in Adult Patients With Primary Immune Thrombocytopenia. Brooklyn Observational Retrospective Study. Completed NCT02063763

Search NIH Clinical Center for Primary Thrombocytopenia

Genetic Tests for Primary Thrombocytopenia

Anatomical Context for Primary Thrombocytopenia

Organs/tissues related to Primary Thrombocytopenia:

MalaCards : Bone Marrow, Spleen, Bone

Publications for Primary Thrombocytopenia

Articles related to Primary Thrombocytopenia:

(show all 18)
# Title Authors PMID Year
1
Patterns of Outpatient Phecodes Predating the Diagnosis of Systemic Lupus Erythematosus in Taiwanese Women. 62
36143053 2022
2
Successful treatment in one myelodysplastic syndrome patient with primary thrombocytopenia and secondary deep vein thrombosis: A case report. 62
35663076 2022
3
Eltrombopag post autologous hematopoietic stem cell transplant - an emerging indication in younger pediatric patients. 62
34079631 2021
4
Platelet polyphosphate level is elevated in patients with chronic primary thrombocytopenia: A preliminary study. 62
32946685 2020
5
[Clinical Characteristics and Bone Marrow Histopathology Features in Essential Thrombocythaemia Patients with Different Gene Mutation in China]. 62
32798421 2020
6
Romiplostim and Eltrombopag in Immune Thrombocytopenia as a Second-Line Treatment. 62
32968581 2020
7
Safety and Efficacy of Eltrombopag in Post-hematopoietic Stem Cell Transplantation (HSCT) Thrombocytopenia. 62
26306064 2015
8
Deep vein thrombosis after arthroscopic anterior cruciate ligament reconstruction in a patient with primary thrombocytopenia. 62
25230271 2014
9
Laparoscopic versus open splenectomy: the impact of spleen size on outcomes. 62
23781954 2013
10
[Economic evaluation of Thrombopoietin Receptor Agonists in the treatment of chronic primary immune thrombocytopenia]. 62
23789796 2013
11
Research and development of the effective components of panaxdiol saponin as new Chinese patent medicine for treating hemocytopenia. 62
23238997 2012
12
[Practical comments on the use of immunoglobulins]. 62
21751557 2011
13
Analysis of the impact and burden of illness of adult chronic ITP in the US. 62
19835465 2009
14
Attenuated form of Evans syndrome among pediatric ITP patients. 62
16651673 2006
15
Are there "Attenuated" Forms of Evans Syndrome? 62
27405699 2001
16
[A management program for primary thrombocytopenia]. 62
10553341 1999
17
[Recurrent hemolytic uremic syndrome (author's transl)]. 62
7421869 1980
18
Splenectomy for primary thrombocytopenia. 62
14811367 1951

Variations for Primary Thrombocytopenia

Expression for Primary Thrombocytopenia

Search GEO for disease gene expression data for Primary Thrombocytopenia.

Pathways for Primary Thrombocytopenia

Pathways related to Primary Thrombocytopenia according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.78 TNFSF13B ICOSLG HP FCGR2B FCGR2A F2
2
Show member pathways
13.15 TNFSF13B THPO PF4 ITGB3 ITGA2B CD4
3
Show member pathways
12.99 VWF THPO PF4 MPL ITGB3 ITGA2B
4
Show member pathways
12.27 VWF PF4 F3 F2
5 11.62 VWF ITGB3 F3
6
Show member pathways
11.62 VWF THPO MPL ITGB3 ITGA2B F2
7 11.62 THPO MPL ITGB3 ITGA2B FCGR2A CD8A
8 11.51 CD8A CD4 CCR6
9 11.45 CD8A CD4 CD19
10 11.27 VWF ITGB3 ITGA2B F2
11 11.21 FCGR2A ITGA2B ITGB3
12 10.78 TNFSF13B THPO PF4 ITGB3 ITGA2B
13 10.74 PF4 ITGB3 ITGA2B FCGR2A F3 F2

GO Terms for Primary Thrombocytopenia

Cellular components related to Primary Thrombocytopenia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.23 CCR6 CD19 CD4 CD8A F3 FCGR2A
2 plasma membrane GO:0005887 10.23 CCR6 CD19 CD4 CD8A F3 FCGR2A
3 membrane GO:0016021 10.17 CCR6 CD19 CD4 CD52 CD8A F3
4 membrane GO:0016020 10.17 CCR6 CD19 CD4 CD52 CD8A F3
5 cell surface GO:0009986 10.07 MPL ITGB3 ITGA2B F3 CD4 CCR6
6 external side of plasma membrane GO:0009897 9.64 MPL ITGB3 ITGA2B ICOSLG FCGR2B F3

Biological processes related to Primary Thrombocytopenia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 10.1 TNFSF13B PF4 FCGR2B CD8A CD4 CCR6
2 immune system process GO:0002376 9.91 CD19 CD4 CD8A FCGR2A HP ICOSLG
3 defense response GO:0006952 9.87 PF4 ICOSLG HP FCGR2B
4 regulation of immune response GO:0050776 9.83 TNFSF13B FCGR2B FCGR2A
5 blood coagulation GO:0007596 9.81 VWF ITGB3 F3 F2 ADAMTS13
6 thrombopoietin-mediated signaling pathway GO:0038163 9.67 THPO MPL
7 hemostasis GO:0007599 9.35 VWF F3 F2 ADAMTS13
8 platelet activation GO:0030168 9.32 VWF PF4 ITGB3 F2 ADAMTS13

Molecular functions related to Primary Thrombocytopenia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 coreceptor activity GO:0015026 9.1 ITGB3 CD8A CD4

Sources for Primary Thrombocytopenia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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