MCID: PRM225
MIFTS: 39

Primary Thrombocytopenia

Categories: Blood diseases, Bone diseases, Cancer diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases

Aliases & Classifications for Primary Thrombocytopenia

Summaries for Primary Thrombocytopenia

MalaCards based summary : Primary Thrombocytopenia is related to thrombocytopenic purpura, autoimmune and thrombocytosis. 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 TGF-Beta Pathway. The drugs Pharmaceutical Solutions and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and spleen, and related phenotypes are hematopoietic system and homeostasis/metabolism

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 441)
# Related Disease Score Top Affiliating Genes
1 thrombocytopenic purpura, autoimmune 31.0 THPO MPL ITGB3 ITGA2B ICOSLG FCGR2B
2 thrombocytosis 29.9 THPO MPL F3 F2
3 essential thrombocythemia 29.6 THPO MPL ITGB3 ITGA2B F3 F2
4 thrombosis 29.4 ITGB3 ITGA2B F3 F2 CD40LG ADAMTS13
5 thrombocytopenia 28.5 TNFSF13B THPO MPL ITGB3 ITGA2B IL10
6 thrombocytopenia 3 10.5 THPO MPL
7 cork-handlers' disease 10.4 CD8A CD4
8 necrotic uveal melanoma 10.4 CD8A CD4
9 early yaws 10.4 CD8A CD4
10 ventilation pneumonitis 10.4 CD8A CD4
11 acquired thrombocytopenia 10.4 THPO MPL ITGA2B
12 diffuse infiltrative lymphocytosis syndrome 10.4 CD8A CD4
13 fetal and neonatal alloimmune thrombocytopenia 10.4 ITGB3 ITGA2B
14 dyskeratosis congenita, autosomal dominant 6 10.4 THPO MPL
15 latent syphilis 10.4 CD8A CD4
16 type 1 diabetes mellitus 23 10.4 CD8A CD4
17 autoimmune lymphoproliferative syndrome, type iia 10.4 CD8A CD4
18 microscopic polyangiitis 10.4 FCGR2B FCGR2A
19 acute proliferative glomerulonephritis 10.4 ICOSLG CD4 CCR6
20 childhood type dermatomyositis 10.4 ICOSLG CD4 CCR6
21 lobomycosis 10.4 CD4 CD19
22 parapsoriasis 10.4 CD8A CD4
23 gastroduodenitis 10.4 CD8A CD4
24 autoimmune neuropathy 10.4 ICOSLG FCGR2B CD4
25 bullous skin disease 10.4 ICOSLG CD4 CCR6
26 primary syphilis 10.4 CD8A CD4
27 suppurative lymphadenitis 10.4 CD4 CCR6
28 norwegian scabies 10.4 CD8A CD4
29 anti-basement membrane glomerulonephritis 10.4 FCGR2B CD4 CCR6
30 bird fancier's lung 10.4 CD8A CD4
31 esophageal candidiasis 10.4 CD8A CD4 CCR6
32 syphilitic meningitis 10.4 MPL CD8A CD4
33 pneumonic tularemia 10.4 CD8A CD4 CCR6
34 tularemia 10.4 CD8A CD4 CCR6
35 scleral disease 10.4 CD8A CD4 CCR6
36 aspirin resistance 10.4 ITGB3 F2
37 basilar artery occlusion 10.4 ITGA2B F2
38 autoimmune cholangitis 10.4 CD8A CD4 CCR6
39 sudden sensorineural hearing loss 10.4 ITGB3 F2
40 listeria meningitis 10.4 CD8A CD52
41 geotrichosis 10.4 CD40LG CD4
42 anogenital venereal wart 10.4 CD8A CD4 CCR6
43 monoclonal gammopathy of uncertain significance 10.4 ICOSLG CD19 CCR6
44 blepharitis 10.4 CD8A CD4 CCR6
45 vulvar angiokeratoma 10.4 HP F3
46 cranial nerve disease 10.4 ICOSLG CD4 CCR6
47 penile disease 10.4 CD8A CD4 CCR6
48 achenbach syndrome 10.3 F3 F2
49 nail disease 10.3 CD8A CD4 CCR6
50 brachydactyly, type c 10.3 CD8A 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

MGI Mouse Phenotypes related to Primary Thrombocytopenia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.27 ADAMTS13 CCR6 CD19 CD4 CD40LG CD8A
2 homeostasis/metabolism MP:0005376 10.2 ADAMTS13 CCR6 CD19 CD4 CD40LG F2
3 immune system MP:0005387 10.19 ADAMTS13 CCR6 CD19 CD4 CD40LG CD8A
4 cellular MP:0005384 10.18 CD19 CD4 CD40LG CD8A F2 F3
5 integument MP:0010771 9.81 CD19 CD4 CD40LG CD8A F2 F3
6 mortality/aging MP:0010768 9.8 ADAMTS13 CD19 CD4 CD40LG CD8A F2
7 normal MP:0002873 9.32 ADAMTS13 CCR6 CD19 CD4 CD8A F2

Drugs & Therapeutics for Primary Thrombocytopenia

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 3
2 Immunoglobulins Phase 3
3 Antibodies Phase 3
4 Immunoglobulins, Intravenous Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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

Search NIH Clinical Center for Primary Thrombocytopenia

Genetic Tests for Primary Thrombocytopenia

Anatomical Context for Primary Thrombocytopenia

MalaCards organs/tissues related to Primary Thrombocytopenia:

40
Bone Marrow, Spleen

Publications for Primary Thrombocytopenia

Articles related to Primary Thrombocytopenia:

(show all 15)
# Title Authors PMID Year
1
Platelet polyphosphate level is elevated in patients with chronic primary thrombocytopenia: A preliminary study. 61
32946685 2020
2
[Clinical Characteristics and Bone Marrow Histopathology Features in Essential Thrombocythaemia Patients with Different Gene Mutation in China]. 61
32798421 2020
3
Romiplostim and Eltrombopag in Immune Thrombocytopenia as a Second-Line Treatment. 61
32968581 2020
4
Safety and Efficacy of Eltrombopag in Post-hematopoietic Stem Cell Transplantation (HSCT) Thrombocytopenia. 61
26306064 2015
5
Deep vein thrombosis after arthroscopic anterior cruciate ligament reconstruction in a patient with primary thrombocytopenia. 61
25230271 2014
6
Laparoscopic versus open splenectomy: the impact of spleen size on outcomes. 61
23781954 2013
7
[Economic evaluation of Thrombopoietin Receptor Agonists in the treatment of chronic primary immune thrombocytopenia]. 61
23789796 2013
8
Research and development of the effective components of panaxdiol saponin as new Chinese patent medicine for treating hemocytopenia. 61
23238997 2012
9
[Practical comments on the use of immunoglobulins]. 61
21751557 2011
10
Analysis of the impact and burden of illness of adult chronic ITP in the US. 61
19835465 2009
11
Attenuated form of Evans syndrome among pediatric ITP patients. 61
16651673 2006
12
Are there "Attenuated" Forms of Evans Syndrome? 61
27405699 2001
13
[A management program for primary thrombocytopenia]. 61
10553341 1999
14
[Recurrent hemolytic uremic syndrome (author's transl)]. 61
7421869 1980
15
Splenectomy for primary thrombocytopenia. 61
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 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.86 TNFSF13B ITGB3 ITGA2B IL10 ICOSLG HP
2
Show member pathways
13.43 TNFSF13B THPO MPL ITGB3 ITGA2B IL10
3
Show member pathways
13.3 TNFSF13B THPO ITGB3 ITGA2B IL10 CD40LG
4
Show member pathways
12.7 TNFSF13B IL10 ICOSLG CD8A CD40LG CD4
5 12.36 TNFSF13B MPL IL10 CD8A CD40LG CD19
6 12.03 ICOSLG CD8A CD40LG CD4
7 11.97 IL10 FCGR2A CD8A CD4
8 11.96 FCGR2B CD8A CD40LG CD19
9 11.89 ITGB3 ITGA2B FCGR2A F2
10 11.7 ITGB3 ITGA2B FCGR2A
11
Show member pathways
11.65 THPO MPL ITGB3 ITGA2B F2
12 11.64 IL10 CD8A CD4 CCR6
13 11.63 THPO ITGB3 ITGA2B CD8A CD4 CD19
14 11.57 IL10 CD8A CD4 CD19
15 11.56 ITGB3 IL10 CD40LG
16 11.46 ITGB3 ITGA2B F2
17 11.44 ITGB3 ITGA2B FCGR2A
18 11.34 THPO MPL ITGB3 ITGA2B IL10 FCGR2A
19 11.32 TNFSF13B IL10 ICOSLG FCGR2B FCGR2A CD40LG
20 11.2 CD8A CD40LG CD4 CD19
21 10.89 TNFSF13B THPO ITGB3 ITGA2B IL10 CD40LG

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 integral component of membrane GO:0016021 10.2 TNFSF13B RHCE MPL ITGB3 ITGA2B ICOSLG
2 extracellular region GO:0005576 10.07 TNFSF13B THPO IL10 HP F3 F2
3 plasma membrane GO:0005886 10.03 TNFSF13B MPL ITGB3 ITGA2B ICOSLG FCGR2B
4 extracellular space GO:0005615 10.01 TNFSF13B THPO IL10 HP F3 F2
5 integral component of plasma membrane GO:0005887 9.91 RHCE ITGB3 FCGR2B FCGR2A CD8A CD40LG
6 cell surface GO:0009986 9.56 MPL ITGB3 ITGA2B F3 CD40LG CD4
7 external side of plasma membrane GO:0009897 9.28 ITGA2B ICOSLG FCGR2B F2 CD8A CD40LG

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.87 TNFSF13B ICOSLG HP FCGR2A CD8A CD4
2 positive regulation of protein phosphorylation GO:0001934 9.83 THPO ITGB3 F2 CD4
3 blood coagulation GO:0007596 9.81 ITGB3 F3 F2 ADAMTS13
4 cell surface receptor signaling pathway GO:0007166 9.77 FCGR2B FCGR2A F2 CD8A CD4
5 positive regulation of endothelial cell proliferation GO:0001938 9.72 ITGB3 IL10 F3
6 positive regulation of T cell proliferation GO:0042102 9.71 TNFSF13B CD40LG CD4
7 hemostasis GO:0007599 9.67 F3 F2 ADAMTS13
8 T cell costimulation GO:0031295 9.65 TNFSF13B ICOSLG CD40LG
9 T cell activation GO:0042110 9.61 ICOSLG CD8A CD4
10 platelet aggregation GO:0070527 9.58 MPL ITGB3 ITGA2B
11 platelet activation GO:0030168 9.56 ITGB3 F2 CD40LG ADAMTS13
12 immune response GO:0006955 9.5 TNFSF13B IL10 FCGR2B CD8A CD40LG CD4
13 thrombopoietin-mediated signaling pathway GO:0038163 9.46 THPO MPL
14 integrin-mediated signaling pathway GO:0007229 9.46 ITGB3 ITGA2B CD40LG ADAMTS13
15 regulation of immune response GO:0050776 9.1 TNFSF13B FCGR2B FCGR2A CD8A CD40LG CD19

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.56 TNFSF13B THPO IL10 CD40LG
2 signaling receptor binding GO:0005102 9.55 TNFSF13B THPO ICOSLG F2 CD4
3 IgG binding GO:0019864 9.32 FCGR2B FCGR2A
4 fibrinogen binding GO:0070051 8.96 ITGB3 ITGA2B
5 coreceptor activity GO:0015026 8.8 ITGB3 CD8A CD4

Sources for Primary Thrombocytopenia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....