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MCID: PRM225
MIFTS: 39

Primary Thrombocytopenia

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Primary Thrombocytopenia

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MalaCards integrated aliases for Primary Thrombocytopenia:

Name: Primary Thrombocytopenia 12 15 73

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases Blood diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:8925
ICD10 33 D69.4 D69.49
ICD9CM 35 287.39
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Summaries for Primary Thrombocytopenia

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MalaCards based summary : Primary Thrombocytopenia is related to thrombocytopenic purpura, autoimmune and bleeding disorder, platelet-type, 16. An important gene associated with Primary Thrombocytopenia is THPO (Thrombopoietin), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Phospholipase-C Pathway. The drugs Dimethyl sulfoxide and Free Radical Scavengers have been mentioned in the context of this disorder. Affiliated tissues include bone, colon and myeloid, and related phenotypes are hematopoietic system and cellular

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Related Diseases for Primary Thrombocytopenia

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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 Ankrd26-Related Thrombocytopenia
Myh9 Related Thrombocytopenia

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

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 thrombocytopenic purpura, autoimmune 30.9 GP1BA GP6 ITGA2B ITGB3 MPL SELP
2 bleeding disorder, platelet-type, 16 30.6 ITGA2B ITGB3
3 myh-9 related disease 30.2 GP1BA MYH9
4 autosomal dominant macrothrombocytopenia 30.0 GP1BA ITGA2B ITGB3 MYH9
5 thrombosis 29.0 ADAMTS13 GP1BA GP6 SELP VWF
6 thrombocytopenia 28.8 ADAMTS13 GP1BA ITGA2 ITGA2B ITGB3 MPL
7 bleeding disorder, platelet-type, 19 10.3
8 thrombocytopenia 3 10.3 MPL THPO
9 thrombocythemia 1 10.3 MPL THPO
10 dyskeratosis congenita, autosomal dominant 6 10.2 MPL THPO
11 aspirin resistance 10.2 ITGA2 ITGB3
12 amegakaryocytic thrombocytopenia, congenital 10.2 MPL THPO
13 carotid artery thrombosis 10.2 ITGA2B SELP
14 thrombocytopenia, paris-trousseau type 10.2
15 thrombocytopenia, x-linked, with or without dyserythropoietic anemia 10.2
16 thrombocytopenia 1 10.2
17 thrombocytopenia with beta-thalassemia, x-linked 10.2
18 platelet disorder, familial, with associated myeloid malignancy 10.2
19 macrothrombocytopenia, autosomal dominant, tubb1-related 10.2
20 autosomal thrombocytopenia with normal platelets 10.2
21 hereditary thrombocytopenia with normal platelets 10.2
22 macrothrombocytopenia with mitral valve insufficiency 10.2
23 bombay phenotype 10.1 ADAMTS13 VWF
24 thrombocytosis 10.1 MPL SELP THPO
25 thrombocytopenia-absent radius syndrome 10.1 GP1BA MPL THPO
26 sticky platelet syndrome 10.1 GP6 ITGB3
27 qualitative platelet defect 10.1 SELP VWF
28 platelet aggregation, spontaneous 10.1 SELP VWF
29 acquired von willebrand syndrome 10.1 GP1BA VWF
30 megakaryocytic leukemia 10.1 ITGA2B THPO VWF
31 pseudo-von willebrand disease 10.1 GP1BA VWF
32 intermediate coronary syndrome 10.1 ITGA2B SELP VWF
33 infective endocarditis 10.1 FCGR2A GP1BA ITGB3
34 intracranial thrombosis 10.1 ITGA2B VWF
35 arteries, anomalies of 10.1 ITGA2B SELP VWF
36 catastrophic antiphospholipid syndrome 10.0 ADAMTS13 CD40LG
37 polycythemia vera 10.0 ITGB3 MPL SELP THPO
38 heparin-induced thrombocytopenia 10.0 CD40LG FCGR2A
39 exanthema subitum 10.0 CD40LG ITGA2B THPO
40 thrombotic thrombocytopenic purpura 10.0 ADAMTS13 SELP VWF
41 von willebrand disease, type 1 10.0 GP6 VWF
42 cerebrovascular disease 10.0 ITGA2B SELP VWF
43 intestine carcinoma in situ 10.0 CD40LG ITGA2
44 fetal and neonatal alloimmune thrombocytopenia 10.0 GP1BA ITGA2 ITGA2B ITGB3
45 acute myocardial infarction 10.0 ITGA2B SELP VWF
46 colon carcinoma in situ 10.0 CD40LG ITGA2
47 adult lymphoma 10.0 FCGR2A FCGR3A
48 bleeding disorder, platelet-type, 11 10.0 FCGR2A GP6 ITGA2
49 inherited blood coagulation disease 10.0 GP1BA ITGA2B ITGB3 VWF
50 leukocyte adhesion deficiency, type iii 10.0 ITGA2B SELP

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
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Symptoms & Phenotypes for Primary Thrombocytopenia

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MGI Mouse Phenotypes related to Primary Thrombocytopenia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.1 ADAMTS13 CD40LG FCGR2A FOXG1 GP1BA GP6
2 cellular MP:0005384 10.02 CD40LG FOXG1 GP1BA ITGA2 ITGA2B ITGB3
3 homeostasis/metabolism MP:0005376 9.97 ADAMTS13 CD40LG FOXG1 GP1BA GP6 ITGA2
4 immune system MP:0005387 9.73 ADAMTS13 CD40LG FCGR2A FOXG1 GP6 ITGA2B
5 mortality/aging MP:0010768 9.32 ADAMTS13 CD40LG FCGR2A FOXG1 GP6 ITGB3
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Drugs & Therapeutics for Primary Thrombocytopenia

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dimethyl sulfoxide Approved, Vet_approved Phase 4 67-68-5 679
2 Free Radical Scavengers Phase 4
3 Antioxidants Phase 4
4 Protective Agents Phase 4
5 Immunoglobulins Phase 3
6 Immunologic Factors Phase 3
7 Antibodies Phase 3
8 Pharmaceutical Solutions 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

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Genetic Tests for Primary Thrombocytopenia

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Anatomical Context for Primary Thrombocytopenia

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MalaCards organs/tissues related to Primary Thrombocytopenia:

41
Bone, Colon, Myeloid, Bone Marrow
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Publications for Primary Thrombocytopenia

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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
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Variations for Primary Thrombocytopenia

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Expression for Primary Thrombocytopenia

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Search GEO for disease gene expression data for Primary Thrombocytopenia.
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Pathways for Primary Thrombocytopenia

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

(show all 33)
# Super pathways Score Top Affiliating Genes
1
Response to elevated platelet cytosolic Ca2+ 66
Show member pathways
 13.16 GP1BA GP6 ITGA2 ITGA2B ITGB3 MPL
2
Phospholipase-C Pathway 64
Show member pathways
 12.9 FCGR2A ITGA2 ITGA2B ITGB3 THPO
3
Regulation of actin cytoskeleton 1 37
12.46 ITGA2 ITGA2B ITGB3 MYH9
4
G-protein signaling RAC1 in cellular process 22
Show member pathways
 12.25 ITGA2 ITGA2B ITGB3 THPO
5
Cell surface interactions at the vascular wall 66
Show member pathways
 12.08 GP6 ITGB3 SELP
6
Dilated cardiomyopathy (DCM) 37
Show member pathways
 12.06 ITGA2 ITGA2B ITGB3
7
Formation of Fibrin Clot (Clotting Cascade) 66
Show member pathways
 12.02 GP1BA GP6 VWF
8
ECM-receptor interaction 37
Show member pathways
 12.02 GP1BA GP6 ITGA2 ITGA2B ITGB3 VWF
9
AKT Signaling Pathway 67
11.99 ITGA2 ITGA2B ITGB3
10
Phagosome 37
11.96 FCGR2A FCGR3A ITGA2 ITGB3
11
Oncogenic MAPK signaling 66
Show member pathways
 11.93 ITGA2B ITGB3 VWF
12
Osteoclast differentiation 37
11.89 FCGR2A FCGR3A ITGB3
13
L1CAM interactions 66
Show member pathways
 11.87 ITGA2 ITGA2B ITGB3
14
Reelin Pathway (Cajal-Retzius cells) 64
11.81 ITGA2 ITGA2B ITGB3
15
Hematopoietic cell lineage 37
11.79 GP1BA ITGA2 ITGA2B ITGB3 THPO
16
Phagocytosis of Microbes 64
11.69 FCGR2A ITGA2 ITGA2B ITGB3
17
Integrin alphaIIb beta3 signaling 66
Show member pathways
 11.62 GP1BA ITGA2B ITGB3 MPL THPO VWF
18
Microglia Activation During Neuroinflammation: Microglia Polarization 65
11.59 FCGR2A FCGR3A ITGB3
19
Platelet activation 37
11.59 FCGR2A GP1BA GP6 ITGA2 ITGA2B ITGB3
20
G-protein signaling_RhoA regulation pathway 22
11.58 ITGA2 ITGA2B ITGB3 THPO
21
IL4-mediated signaling events 1
11.52 CD40LG ITGB3 SELP
22
G-protein signaling_Regulation of RAC1 activity 22
11.49 ITGA2 ITGA2B ITGB3
23
ECM proteoglycans 66
11.47 ITGA2 ITGA2B ITGB3
24
Staphylococcus aureus infection 37
11.45 FCGR2A FCGR3A SELP
25
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 61
11.43 GP6 ITGA2 ITGA2B ITGB3 VWF
26
Signaling events mediated by PTP1B 1
11.37 FCGR2A ITGA2B ITGB3
27
Cytoskeleton remodeling_RalA regulation pathway 22
11.36 ITGA2 ITGA2B ITGB3 MYH9
28
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.23 FCGR2A GP1BA ITGA2 ITGA2B ITGB3 MPL
29
Ephrin B reverse signaling 1
11.07 ITGA2B ITGB3
30
Signal transduction by L1 66
10.94 ITGA2B ITGB3
31
G-protein signaling_Rap2B regulation pathway 22
10.87 CD40LG ITGA2 ITGA2B ITGB3 THPO
32
Platelet Adhesion to exposed collagen 66
10.67 GP1BA GP6 ITGA2 VWF
33
GP1b-IX-V activation signalling 66
10.58 GP1BA VWF
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GO Terms for Primary Thrombocytopenia

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.98 FCGR3A GP1BA GP6 ITGA2B ITGB3 MYH9
2 integral component of plasma membrane GO:0005887 9.88 CD40LG GP1BA GP6 ITGB3 MPL SELP
3 focal adhesion GO:0005925 9.67 ITGA2 ITGA2B ITGB3 MYH9
4 external side of plasma membrane GO:0009897 9.65 CD40LG FCGR3A ITGA2 ITGA2B SELP
5 integrin complex GO:0008305 9.33 ITGA2 ITGA2B ITGB3
6 cell surface GO:0009986 9.23 ADAMTS13 CD40LG GP1BA GP6 ITGA2 ITGA2B
7 platelet alpha granule membrane GO:0031092 9.13 ITGA2B ITGB3 SELP
8 plasma membrane GO:0005886 10.06 CD40LG FCGR2A FCGR3A GP1BA GP6 ITGA2

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.87 GP1BA ITGA2 ITGA2B ITGB3 MYH9 SELP
2 extracellular matrix organization GO:0030198 9.83 ITGA2 ITGA2B ITGB3 VWF
3 leukocyte migration GO:0050900 9.81 GP6 ITGB3 MYH9 SELP
4 platelet degranulation GO:0002576 9.78 ITGA2B ITGB3 SELP VWF
5 cell-matrix adhesion GO:0007160 9.76 ADAMTS13 ITGA2 ITGA2B ITGB3
6 hemostasis GO:0007599 9.67 ADAMTS13 GP1BA GP6 VWF
7 integrin-mediated signaling pathway GO:0007229 9.65 ADAMTS13 ITGA2 ITGA2B ITGB3 MYH9
8 blood coagulation GO:0007596 9.63 ADAMTS13 GP1BA GP6 ITGA2 ITGB3 VWF
9 cell-substrate adhesion GO:0031589 9.61 ITGA2 ITGB3 VWF
10 leukocyte cell-cell adhesion GO:0007159 9.58 CD40LG SELP
11 positive regulation of leukocyte migration GO:0002687 9.58 ITGA2 ITGA2B SELP
12 cell adhesion mediated by integrin GO:0033627 9.57 ITGA2 ITGB3
13 blood coagulation, intrinsic pathway GO:0007597 9.56 GP1BA VWF
14 mesodermal cell differentiation GO:0048333 9.55 ITGA2 ITGB3
15 response to amine GO:0014075 9.54 ADAMTS13 ITGA2
16 thrombopoietin-mediated signaling pathway GO:0038163 9.49 MPL THPO
17 platelet aggregation GO:0070527 9.35 GP1BA ITGA2B ITGB3 MPL MYH9
18 platelet activation GO:0030168 9.1 ADAMTS13 CD40LG GP1BA GP6 ITGB3 VWF

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix binding GO:0050840 9.37 ITGA2B ITGB3
2 collagen binding GO:0005518 9.33 GP6 ITGA2 VWF
3 IgG binding GO:0019864 9.26 FCGR2A FCGR3A
4 integrin binding GO:0005178 9.02 ADAMTS13 ITGA2 ITGB3 MYH9 VWF
5 fibrinogen binding GO:0070051 8.96 ITGA2B ITGB3
6 protein binding GO:0005515 10.13 ADAMTS13 CD40LG FCGR2A FOXG1 GP1BA GP6
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Sources for Primary Thrombocytopenia

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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