Primary Thrombocytopenia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Primary Thrombocytopenia

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

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Coagulation defects, purpura and other haemorrhagic conditions

Purpura and other haemorrhagic conditions

Other primary thrombocytopenia

External Ids:

Disease Ontology ¹² DOID:8925

ICD10 ³³ D69.4 D69.49

ICD9CM ³⁵ 287.39

SNOMED-CT ⁶⁸ 191435001

UMLS ⁷³ C0477317 C0701157

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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

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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:

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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

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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

Synonyms:

(CH3)2SO

(Methylsulfinyl)methane

Dimethyl sulfoxide

Dimethyl sulfoxixde

Dimethyl sulfur oxide

Dimethyl sulphoxide

Dimethyl sulphur oxide

Dimethyl sulpoxide

Dimethyli sulfoxidum

Dimethyli sulphoxidum

Dimethylsulfoxid

Dimethylsulfoxide

Dimethylsulfoxyde

Dimethylsulphinyl

Dimethylsulphoxid

Dimethylsulphoxide

Dimethylsulphoxyde

Dimetil sulfoxido

Dimetil sulphoxido

Dimexide

DMSO

Merckle brand OF dimethyl sulfoxide

Methylsulfinylmethane

Methylsulphinylmethane

Research ind. corp. brand 1 OF dimethyl sulfoxide

Research ind. corp. brand 2 OF dimethyl sulfoxide

Rheumabene

Rimso

rimso 100

rimso-50

S(O)Me2

Sclerosol

Shire brand OF dimethyl sulfoxide

Sulfinylbis(methane)

Sulfoxide, dimethyl

Sulphinylbis(methane)

Sulphoxide, dimethyl

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

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Genetic Tests for Primary Thrombocytopenia

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Anatomical Context for Primary Thrombocytopenia

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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 )	Kang H....Yu D.	2014
2	Splenectomy for primary thrombocytopenia. ( 14811367 )	RINGER N.E....INGALA A.	1951

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Genes for Primary Thrombocytopenia

Genes related to Primary Thrombocytopenia (0 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ITGA2B	Integrin Subunit Alpha 2b	Protein Coding	17.89	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
2	THPO	Thrombopoietin	Protein Coding	17.87	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	CD40LG	CD40 Ligand	Protein Coding	16.9	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	MPL	MPL Proto-Oncogene, Thrombopoietin Receptor	Protein Coding	16.63	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	ITGB3	Integrin Subunit Beta 3	Protein Coding	16.45	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	ADAMTS13	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 13	Protein Coding	15.88	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	CD79A	CD79a Molecule	Protein Coding	15.7	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	ITGA2	Integrin Subunit Alpha 2	Protein Coding	15.6	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	VWF	Von Willebrand Factor	Protein Coding	15.38	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	FOXG1	Forkhead Box G1	Protein Coding	15.37	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
11	SELP	Selectin P	Protein Coding	15.33	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
12	GP1BA	Glycoprotein Ib Platelet Subunit Alpha	Protein Coding	15.12	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
13	MYH9	Myosin Heavy Chain 9	Protein Coding	15.05	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
14	TNFSF13B	TNF Superfamily Member 13b	Protein Coding	15	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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Variations for Primary Thrombocytopenia

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Expression for Primary Thrombocytopenia

Search GEO for disease gene expression data for Primary Thrombocytopenia.

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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	TGF-Beta Pathway ⁶⁴ Show member pathways JAK-STAT Pathway ⁶⁴ JNK Pathway ⁶⁴ MAPK Family Pathway ⁶⁴ Regulation of eIF4 and p70S6K ⁶⁴ SOCS Pathway ⁶⁴	13.33	ITGA2 ITGA2B ITGB3 MPL THPO TNFSF13B
2	Akt Signaling ⁶⁴ Show member pathways p38 Signaling ⁶⁴ Tec Kinases Signaling ⁶⁴	13.21	CD40LG ITGA2 ITGA2B ITGB3 THPO TNFSF13B
3	Response to elevated platelet cytosolic Ca2+ ⁶⁶ Show member pathways Disinhibition of SNARE formation ⁶⁶ Hemostasis ⁶⁶ Platelet activation, signaling and aggregation ⁶⁶ Platelet degranulation ⁶⁶	13.11	GP1BA ITGA2 ITGA2B ITGB3 MPL SELP
4	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	12.86	CD79A ITGA2 ITGA2B ITGB3 THPO
5	Development Angiotensin activation of ERK ²² Show member pathways Cell adhesion Integrin inside-out signaling ²² Development ACM2 and ACM4 activation of ERK ²² Development Angiotensin signaling via PYK2 ²² Development EDNRB signaling ²² Development EPO-induced MAPK pathway ²² Development G-Proteins mediated regulation MARK-ERK signaling ²² Signal transduction IP3 signaling ²²	12.69	CD40LG CD79A ITGA2 ITGA2B ITGB3 TNFSF13B
6	Regulation of actin cytoskeleton ³⁷ ¹	12.42	ITGA2 ITGA2B ITGB3 MYH9
7	NF-kappaB Signaling ⁴	12.36	CD40LG CD79A MPL TNFSF13B
8	ECM-receptor interaction ³⁷ Show member pathways Integrin cell surface interactions ⁶⁶	11.9	GP1BA ITGA2 ITGA2B ITGB3 VWF
9	Oncogenic MAPK signaling ⁶⁶ Show member pathways Signaling by BRAF and RAF fusions ⁶⁶	11.89	ITGA2B ITGB3 VWF
10	L1CAM interactions ⁶⁶ Show member pathways CHL1 interactions ⁶⁶ Neurofascin interactions ⁶⁶ NrCAM interactions ⁶⁶	11.84	ITGA2 ITGA2B ITGB3
11	Platelet activation ³⁷	11.74	GP1BA ITGA2 ITGA2B ITGB3 VWF
12	Phagocytosis of Microbes ⁶⁴	11.63	ITGA2 ITGA2B ITGB3
13	Hematopoietic cell lineage ³⁷	11.54	GP1BA ITGA2 ITGA2B ITGB3 THPO
14	IL4-mediated signaling events ¹	11.49	CD40LG ITGB3 SELP
15	G-protein signaling_Regulation of RAC1 activity ²²	11.46	ITGA2 ITGA2B ITGB3
16	ECM proteoglycans ⁶⁶	11.43	ITGA2 ITGA2B ITGB3
17	Integrin alphaIIb beta3 signaling ⁶⁶ Show member pathways GRB2-SOS provides linkage to MAPK signaling for Integrins ⁶⁶ p130Cas linkage to MAPK signaling for integrins ⁶⁶ Platelet Aggregation (Plug Formation) ⁶⁶	11.42	GP1BA ITGA2B ITGB3 MPL THPO VWF
18	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics ⁶¹	11.38	ITGA2 ITGA2B ITGB3 VWF
19	Cytoskeleton remodeling_RalA regulation pathway ²²	11.32	ITGA2 ITGA2B ITGB3 MYH9
20	Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁵	11.23	CD79A GP1BA ITGA2 ITGA2B ITGB3 MPL
21	Ephrin B reverse signaling ¹	11.05	ITGA2B ITGB3
22	Signal transduction by L1 ⁶⁶	10.92	ITGA2B ITGB3
23	Platelet Adhesion to exposed collagen ⁶⁶	10.69	GP1BA ITGA2 VWF
24	GP1b-IX-V activation signalling ⁶⁶	10.54	GP1BA VWF

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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

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