MCID: PRM225
MIFTS: 37

Primary Thrombocytopenia

Categories: Immune diseases, Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Primary Thrombocytopenia

Summaries for Primary Thrombocytopenia

MalaCards based summary : Primary Thrombocytopenia is related to bleeding disorder, platelet-type, 16 and thrombocytopenia 1. An important gene associated with Primary Thrombocytopenia is ITGA2B (Integrin Subunit Alpha 2b), and among its related pathways/superpathways are TGF-Beta Pathway and Akt Signaling. The drugs Dimethyl sulfoxide and Antioxidants have been mentioned in the context of this disorder. Related phenotypes are cellular and hematopoietic system

Related Diseases for Primary Thrombocytopenia

Diseases in the Thrombocytopenia family:

Thrombocytopenia 2 Thrombocytopenia 3
Thrombocytopenia 1 Thrombocytopenia 4
Thrombocytopenia 5 Thrombocytopenia 6
Acquired Thrombocytopenia Thrombocytopenia Due to Platelet Alloimmunization
Primary Thrombocytopenia Myh9 Related Thrombocytopenia

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

(show top 50) (show all 150)
# Related Disease Score Top Affiliating Genes
1 bleeding disorder, platelet-type, 16 31.3 ITGA2B ITGB3
2 thrombocytopenia 1 30.7 SELP THPO
3 myh-9 related disease 29.7 GP1BA MYH9
4 thrombocytopenic purpura, autoimmune 29.6 GP1BA ITGA2B ITGB3 MPL SELP THPO
5 autosomal dominant macrothrombocytopenia 28.8 GP1BA ITGA2B ITGB3 MYH9
6 thrombosis 28.8 GP1BA SELP VWF
7 thrombocytopenia 26.1 ADAMTS13 GP1BA ITGA2 ITGA2B ITGB3 MPL
8 thrombocytopenia 3 10.9 MPL THPO
9 thrombocythemia 1 10.9 MPL THPO
10 amegakaryocytic thrombocytopenia, congenital 10.9 MPL THPO
11 dyskeratosis congenita, autosomal dominant 6 10.8 MPL THPO
12 selective igg deficiency disease 10.8 CD40LG CD79A
13 c1q nephropathy 10.8 CD40LG CD79A
14 meningovascular neurosyphilis 10.8 CD40LG CD79A
15 alpha chain disease 10.8 CD40LG CD79A
16 brill-zinsser disease 10.8 CD40LG CD79A
17 exudative glomerulonephritis 10.8 CD40LG CD79A
18 cork-handlers' disease 10.8 CD40LG CD79A
19 salpingo-oophoritis 10.8 CD40LG CD79A
20 early yaws 10.8 CD40LG CD79A
21 ventilation pneumonitis 10.8 CD40LG CD79A
22 chronic interstitial cystitis 10.8 CD40LG CD79A
23 axillary adenitis 10.8 CD40LG CD79A
24 cryofibrinogenemia 10.8 CD40LG CD79A
25 trichostrongyloidiasis 10.8 CD40LG CD79A
26 subacute bacterial endocarditis 10.8 CD40LG CD79A
27 heterophyiasis 10.8 CD40LG CD79A
28 immunoglobulin g deficiency 10.8 CD40LG CD79A
29 orbital granuloma 10.8 CD40LG CD79A
30 transient hypogammaglobulinemia of infancy 10.8 CD40LG CD79A
31 hyperglobulinemic purpura 10.8 CD40LG CD79A
32 gastroduodenitis 10.8 CD40LG CD79A
33 bacterial conjunctivitis 10.8 CD40LG CD79A
34 heavy chain disease 10.8 CD40LG CD79A
35 ophthalmia neonatorum 10.8 CD40LG CD79A
36 immunoglobulin a deficiency 1 10.8 CD40LG CD79A
37 parotid disease 10.8 CD40LG CD79A
38 selective immunoglobulin deficiency disease 10.8 CD40LG CD79A
39 geniculate herpes zoster 10.8 CD40LG CD79A
40 erythema elevatum diutinum 10.7 CD40LG CD79A
41 sporotrichosis 10.7 CD40LG CD79A
42 fallopian tube disease 10.7 CD40LG CD79A
43 hyperimmunoglobulin syndrome 10.7 CD40LG CD79A
44 polyclonal hypergammaglobulinemia 10.7 CD40LG CD79A
45 salpingitis 10.7 CD40LG CD79A
46 ocular toxoplasmosis 10.7 CD40LG CD79A
47 dysgammaglobulinemia 10.7 CD40LG CD79A
48 congenital hypogammaglobulinemia 10.7 CD40LG CD79A
49 acute maxillary sinusitis 10.7 CD40LG CD79A
50 chronic polyneuropathy 10.7 CD40LG CD79A

Comorbidity relations with Primary Thrombocytopenia via Phenotypic Disease Network (PDN): (show all 11)


Acquired Thrombocytopenia Active Peptic Ulcer Disease
Acute Cystitis Deficiency Anemia
Familial Atrial Fibrillation Heart Disease
Hypersplenism Hypothyroidism
Ischemic Heart Disease 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 cellular MP:0005384 10 CD79A SELP FOXG1 GP1BA ITGA2 VWF
2 hematopoietic system MP:0005397 10 FOXG1 THPO GP1BA TNFSF13B VWF ITGA2
3 homeostasis/metabolism MP:0005376 9.77 SELP FOXG1 THPO GP1BA ITGA2 VWF
4 immune system MP:0005387 9.4 SELP FOXG1 THPO TNFSF13B VWF ITGA2B

Drugs & Therapeutics for Primary Thrombocytopenia

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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Protocol for the Infusion of Buffy Coat-derived Cryopreserved Platelets in Patients With Severe Thrombocytopenia Terminated NCT02032134 Phase 4
2 Efficacy and Safety of Immunoglobulin Intravenous (Human) 10% (NewGam) in Primary Immune Thrombocytopenia Completed NCT01349790 Phase 3 NewGam
3 TPO-mimetics Before Splenectomy in Adult Primary Immune Thrombocytopenia Patients. Recruiting NCT02063763

Search NIH Clinical Center for Primary Thrombocytopenia

Genetic Tests for Primary Thrombocytopenia

Anatomical Context for Primary Thrombocytopenia

Publications for Primary Thrombocytopenia

Articles related to Primary Thrombocytopenia:

# Title Authors Year
1
Deep vein thrombosis after arthroscopic anterior cruciate ligament reconstruction in a patient with primary thrombocytopenia. ( 25230271 )
2014
2
Splenectomy for primary thrombocytopenia. ( 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 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.33 ITGA2 ITGA2B ITGB3 MPL THPO TNFSF13B
2
Show member pathways
13.21 CD40LG ITGA2 ITGA2B ITGB3 THPO TNFSF13B
3
Show member pathways
13.11 GP1BA ITGA2 ITGA2B ITGB3 MPL SELP
4
Show member pathways
12.86 CD79A ITGA2 ITGA2B ITGB3 THPO
5
Show member pathways
12.69 CD40LG CD79A ITGA2 ITGA2B ITGB3 TNFSF13B
6 12.42 ITGA2 ITGA2B ITGB3 MYH9
7 12.36 CD40LG CD79A MPL TNFSF13B
8
Show member pathways
11.9 GP1BA ITGA2 ITGA2B ITGB3 VWF
9
Show member pathways
11.89 ITGA2B ITGB3 VWF
10
Show member pathways
11.84 ITGA2 ITGA2B ITGB3
11 11.74 GP1BA ITGA2 ITGA2B ITGB3 VWF
12 11.63 ITGA2 ITGA2B ITGB3
13 11.54 GP1BA ITGA2 ITGA2B ITGB3 THPO
14 11.49 CD40LG ITGB3 SELP
15 11.46 ITGA2 ITGA2B ITGB3
16 11.43 ITGA2 ITGA2B ITGB3
17
Show member pathways
11.42 GP1BA ITGA2B ITGB3 MPL THPO VWF
18 11.38 ITGA2 ITGA2B ITGB3 VWF
19 11.32 ITGA2 ITGA2B ITGB3 MYH9
20 11.23 CD79A GP1BA ITGA2 ITGA2B ITGB3 MPL
21 11.05 ITGA2B ITGB3
22 10.92 ITGA2B ITGB3
23 10.69 GP1BA ITGA2 VWF
24 10.54 GP1BA VWF

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 plasma membrane GO:0005887 9.88 CD40LG CD79A GP1BA ITGB3 MPL SELP
2 focal adhesion GO:0005925 9.67 ITGA2 ITGA2B ITGB3 MYH9
3 external side of plasma membrane GO:0009897 9.65 CD40LG CD79A ITGA2 ITGA2B SELP
4 cell surface GO:0009986 9.5 ADAMTS13 CD40LG GP1BA ITGA2 ITGA2B ITGB3
5 platelet alpha granule membrane GO:0031092 9.33 ITGA2B ITGB3 SELP
6 integrin complex GO:0008305 8.92 ITGA2 ITGA2B ITGB3 MYH9
7 plasma membrane GO:0005886 10.02 CD40LG CD79A GP1BA ITGA2 ITGA2B ITGB3

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cell proliferation GO:0008283 9.88 ITGA2 MPL THPO TNFSF13B
2 extracellular matrix organization GO:0030198 9.83 ITGA2 ITGA2B ITGB3 VWF
3 cell adhesion GO:0007155 9.8 GP1BA ITGA2 ITGA2B ITGB3 MYH9 SELP
4 platelet degranulation GO:0002576 9.76 ITGA2B ITGB3 SELP VWF
5 cell-matrix adhesion GO:0007160 9.73 ADAMTS13 ITGA2 ITGA2B ITGB3
6 blood coagulation GO:0007596 9.72 ADAMTS13 GP1BA ITGA2 ITGB3 VWF
7 hemostasis GO:0007599 9.69 ADAMTS13 GP1BA VWF
8 leukocyte cell-cell adhesion GO:0007159 9.58 CD40LG SELP
9 cell-substrate adhesion GO:0031589 9.58 ITGA2 ITGB3 VWF
10 blood coagulation, intrinsic pathway GO:0007597 9.57 GP1BA VWF
11 cell adhesion mediated by integrin GO:0033627 9.56 ITGA2 ITGB3
12 mesodermal cell differentiation GO:0048333 9.55 ITGA2 ITGB3
13 platelet activation GO:0030168 9.55 ADAMTS13 CD40LG GP1BA ITGB3 VWF
14 response to amine GO:0014075 9.54 ADAMTS13 ITGA2
15 positive regulation of leukocyte migration GO:0002687 9.54 ITGA2 ITGA2B SELP
16 immunoglobulin secretion GO:0048305 9.49 CD40LG TNFSF13B
17 thrombopoietin-mediated signaling pathway GO:0038163 9.48 MPL THPO
18 integrin-mediated signaling pathway GO:0007229 9.35 ADAMTS13 ITGA2 ITGA2B ITGB3 MYH9
19 platelet aggregation GO:0070527 9.02 GP1BA ITGA2B ITGB3 MPL MYH9

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.77 ADAMTS13 CD40LG CD79A FOXG1 GP1BA ITGA2
2 integrin binding GO:0005178 8.92 ADAMTS13 ITGA2 ITGB3 VWF

Sources for Primary Thrombocytopenia

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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