Glanzmann's Thrombasthenia malady

NIH Rare Diseases: Glanzmann thrombasthenia (GT) is a rare inherited blood clotting disorder that is present at birth. It is characterized by the impaired function of specialized blood cells, called platelets, that are essential for proper blood clotting. Signs and symptoms vary greatly from person to person. Symptoms usually include abnormal bleeding, which can be severe. Other symptoms may include easy bruising, nose bleeds, bleeding from the gums, and/or heavy menstrual bleeding. Rarely, internal bleeding and blood in the urine (hematuria) can occur. Prolonged untreated or unsuccessfully treated bleeding may be life threatening. This condition is inherited in an autosomal recessive fashion and is caused by mutations in either the ITGA2B or ITGB3 genes.³⁰

MalaCards: Glanzmann's Thrombasthenia, also known as glanzmann thrombasthenia, is related to thalassemia and macrothrombocytopenia. An important gene associated with Glanzmann's Thrombasthenia is ITGA2B (integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)), and among its related pathways are Gamma-carboxylation of protein precursors and Glioma Invasiveness. The compounds clopidogrel and glucose have been mentioned in the context of this disorder. Affiliated tissues include b cells, and related mouse phenotypes are hematopoietic system and liver/biliary system.

OMIM: 273800

Aliases & Descriptions:

glanzmann's thrombasthenia 6 glanzmann thrombasthenia 7 30 32 platelet fibrinogen receptor, deficiency of 30 thrombasthenia of glanzmann and naegeli 30 platelet glycoprotein 2b 3a deficiency 30 glanzmann thrombasthenia, type a 33 glanzmann thrombasthenia type a 30

deficiency of gp 2b 3a complex 30 glycoprotein iib/iiia defect 6 diacyclothrombopathia 2b 3a 30 glanzmanns thrombasthenia 8 thrombocytasthenia 6 thrombasthenia 43 gt 30

Disease types for glanzmann's thrombasthenia family:

glanzmann thrombasthenia, type b

Diseases related to glanzmann's thrombasthenia by text searches and GeneDecks gene sharing:

(show top 50)    (show all 729)

id	Related Disease	Score	Top Affiliating Genes
1	thalassemia	31.5	VWF, NAGLU, MTHFR, GP1BA, F5, F2
2	macrothrombocytopenia	31.1	ITGA2B, ITGB3, GP9, GP1BA
3	bernard-soulier syndrome	31.0	RECK, VWF, ITGA2, ITGA2B, ITGB3, GP9
4	von willebrand's disease	30.6	VWF, ITGA2B, GP1BA, F9, F8, F7
5	thrombosis	30.3	MTHFR, F8, F5, F2
6	beta thalassemia	29.3	NAGLU, MTHFR, F5, F2, F10
7	protein s deficiency	28.9	RECK, MTHFR, CD9, F9, F8, F5
8	dysfibrinogenemia	28.6	F5, F2, F10
9	homocysteine	28.6	VWF, NAGLU, MTHFR, ITGA2, ITGB3, F9
10	thrombasthenia	28.3	RECK, VWF, VTN, SEBOX, NAGLU, RAP1A
11	asthma	27.9	RECK, VTN, LPO, MTHFR, ITGA2, ITGB3
12	systemic lupus erythematosus	27.9	RECK, VWF, VTN, F8, F3, F2
13	type 2 diabetes mellitus	27.9	RECK, VWF, NAGLU, MTHFR, F9, F8
14	hemoglobinopathy	27.9	VWF, GP1BA, PECAM1
15	squamous cell carcinoma	27.9	RECK, VTN, RAP1A, CD9, ITGA2, FN1
16	hyperlipidemia	27.7	VWF, MTHFR, FN1, GP1BA, F7, F2
17	glycogen storage disease	27.6	VWF, NAGLU, MTHFR, F3, F2
18	liver cirrhosis	27.6	VTN, GP1BA, F9, F3, F2, F2R
19	venous thrombosis	27.5	VWF, MTHFR, F9, F8, F5, F3
20	familial hypercholesterolemia	27.5	MTHFR, ITGB3, F7, F2, EGF
21	obesity	27.4	RECK, VWF, MTHFR, ITGB3, F9, F8
22	insulin resistance	27.3	VWF, NAGLU, MTHFR, F9, F8, F7
23	hemolytic anemia	27.3	VWF, CD47, F5, F3, F2
24	polycythemia	27.3	VWF, ITGA2, ITGB3, GP1BA, F5, F3
25	dermatitis	27.2	F5, F3, PTK2, PF4, EGF, PRL
26	osteoarthritis	26.9	VTN, ITGB3, FN1, PF4, EGF, THBS1
27	iron overload	26.9	NAGLU, F5, F2, PRL
28	thromboembolism	26.9	VWF, MTHFR, ITGA2, F9, F8, F7
29	hypofibrinogenemia	26.9	VWF, F3, F2
30	neuronitis	26.8	RECK, VWF, RAP1A, CD47, ITGA2, ITGB3
31	cholestasis	26.8	F5, F3, F2, F2R, HLA-DPA1
32	polycystic ovary syndrome	26.7	VWF, MTHFR, ITGB3, F5, F3, F2
33	hypercholesterolemia	26.7	VWF, MTHFR, ITGB3, GP1BA, F9, F8
34	essential thrombocythemia	26.6	VWF, ITGA2, ITGB3, GP1BA, F8, F5
35	infertility	26.5	MTHFR, CD9, ITGB3, FN1, F5, F2
36	astrocytoma	26.5	RECK, VTN, RAP1A, FN1, F2R, PTK2
37	prothrombin deficiency	26.4	F5, F2
38	spontaneous abortion	26.3	MTHFR, ITGB3, F5, F3, F2, F10
39	polycythemia vera	26.3	VWF, ITGA2, ITGB3, GP1BA, F5, F3
40	hyperglycemia	26.2	VWF, VTN, NAGLU, CD47, FN1, GP1BA
41	esophagitis	26.2	RECK, MTHFR, ITGA2, F5, F3, F2
42	congenital heart defect	26.2	VWF, MTHFR, FN1, F9, F8, F7
43	colorectal cancer	26.2	RECK, VWF, RAP1A, RALGDS, MTHFR, ITGA2
44	amyloidosis	26.1	VWF, VTN, F9, F8, F5, F10
45	cystic fibrosis	26.1	RECK, VWF, NAGLU, LPO, FN1, F9
46	gaucher's disease	26.1	MTHFR, F9, F5, F2, F2R
47	hyperhomocysteinemia	26.1	VWF, MTHFR, ITGB3, GP1BA, F9, F8
48	sensorineural hearing loss	26.1	MTHFR, ITGB3, F5, F3, F2
49	neuropathy	26.0	VWF, NAGLU, MTHFR, ITGB3, GP1BA, F8
50	headache	26.0	MTHFR, F5, PF4, PRL

Clinical features from OMIM: 273800

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to glanzmann's thrombasthenia:

²²

MGI Mouse Phenotypes related to glanzmann's thrombasthenia:

²⁵ (show all 17)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system phenotype	MP:0005397	10.3	RAP1A, ITGA2, ITGA2B, GP1BA
2	liver/biliary system phenotype	MP:0005370	9.1	PRL, PSMG1, THRA, F9, RECK
3	limbs/digits/tail phenotype	MP:0005371	8.7	THRA, THBS1, PTK2, F2R, FN1, CD47
4	reproductive system phenotype	MP:0005389	8.6	PRL, THRA, THBS1, PTK2, F10, F8
5	skeleton phenotype	MP:0005390	8.5	FN1, THBS1, THRA, PECAM1, ITGB3, CD9
6	embryogenesis phenotype	MP:0005380	8.4	PRL, PSMG1, PTK2, F2, RECK
7	digestive/alimentary phenotype	MP:0005381	8.3	EGF, THBS1, THRA, PECAM1, PTK2, F2R
8	tumorigenesis	MP:0002006	8.2	PRL, THRA, THBS1, PTK2, F2R, F3
9	vision/eye phenotype	MP:0005391	8.0	F2R, EGF, THBS1, THRA, F3, ITGB3
10	growth/size phenotype	MP:0005378	7.8	THBS1, EGF, PTK2, F2R, F3, ITGB3
11	cellular phenotype	MP:0005384	7.2	F2, F2R, PTK2, THBS1, THRA, PSMG1
12	immune system phenotype	MP:0005387	7.2	F2, PTK2, THBS1, THRA, PRL, PECAM1
13	integument phenotype	MP:0010771	6.9	PTK2, EGF, THRA, PRL, POU2F3, F2
14	cardiovascular system phenotype	MP:0005385	6.6	F3, F2, F2R, F10, PTK2, THBS1
15	nervous system phenotype	MP:0003631	6.0	F2, F2R, PTK2, THRA, PSMG1, PRL
16	mortality/aging	MP:0010768	5.5	F3, F2, F2R, F10, PTK2, THBS1
17	homeostasis/metabolism phenotype	MP:0005376	4.8	F5, F3, F2, F2R, F10, PTK2

Articles related to glanzmann's thrombasthenia:

(show top 50)    (show all 92)

id	Title	Authors	Year	Affiliating Genes
1	Glanzmann thrombasthenia: a review of ITGA2B and ITGB 3 defects with emphasis on variants, phenotypic variability, and mouse models. (21917754)	Nurden A.T.... Pillois X.	2011	ITGA2B, ITGB3
2	Variant type Glanzmann thrombasthenia caused by homoz ygous p.724R>X mutation in beta3 integrin. (20106508)	Bagoly Z.... Muszbek L.	2010	ITGB3
3	Novel homozygous mutation (c.175delG) in platelet gly coprotein ITGA2B gene as cause of Glanzmann's thrombasthenia type I. (20514618)	Vannier C.... Zieger B.	2010	ITGA2B, ITGB3
4	Glanzmann's thrombasthenia: report of a case and revi ew of the literature. (20490335)	Sebastiano C.... Hurford M.T.	2010	ITGA2B, ITGB3
5	A novel Pro126His beta propeller mutation in integrin alphaIIb causes Glanzmann thrombasthenia by impairing progression of pro-alphaIIbbeta3 from endoplasmic reticulum to Golgi. (18976939)	Shen W.Z.... Wang H.L.	2009	ITGA2B
6	Novel mutations in GP IIb gene in Glanzmann's thrombasthenia from India. (19172520)	Vijapurkar M.... Shetty S.	2009	ITGA2B, ITGB3
7	A beta3 Asp217-->Val substitution in a patient with variant Glanzmann Thrombasthenia severely affects integrin alphaIIBbeta3 functions. (18832906)	D'Andrea G.... Margaglione M.	2008	ITGB3
8	Glanzmann thrombasthenia in an Oldenbourg filly. (17523098)	Macieira S.... BAcdard C.	2007	F3
9	Three novel mutations in the glycoprotein IIb gene in a patient with type II Glanzmann thrombasthenia. (17488698)	Losonczy G.... Muszbek L.	2007	ITGA2B
10	Disulfide bond disruption by a beta 3-Cys549Arg mutation in six Jordanian families with Glanzmann thrombasthenia causes diminished production of constitutively active alpha IIb beta 3. (18064323)	Mor-Cohen R.... Seligsohn U.	2007	EGF, ITGA2B, ITGB3
11	Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of alphaIIbbeta3 integrin (ITGA2B, ITGB3). (16463284)	Peretz H.... Seligsohn U.	2006	ITGA2B, ITGB3
12	Mutations in GPIIIa molecule as a cause for Glanzmann thrombasthenia in Indian patients. (15748237)	Nair S.... Mohanty D.	2005	ITGB3
13	Double heterozygosity for a novel missense mutation of Ile304 to Asn in addition to the missense mutation His280 to Pro in the integrin beta3 gene as a cause of the absence of platelet alphaIIbbeta3 in Glanzmann's thrombasthenia. (15634267)	Tanaka S.... Tani Y.	2005	ITGA2B, ITGB3
14	Three novel beta-propeller mutations causing Glanzmann thrombasthenia result in production of normally stable pro-alphaIIb, but variably impaired progression of pro-alphaIIbbeta3 from endoplasmic reticulum to Golgi. (16359515)	Nelson E.J.... Coller B.S.	2005	ITGA2B, ITGB3
15	Insertion of a C in the exon 28 of integrin alphaIIb gene leading to a frameshift mutation is responsible for Glanzmann thrombasthenia in a Japanese case. (15748238)	Hayashi T.... Tani Y.	2005	ITGA2B
16	Triple heterozygosity in the integrin alphaIIb subunit in a patient with Glanzmann's thrombasthenia. (15099289)	Nurden A.T.... Rand M.L.	2004	ITGA2B
17	The use of recombinant factor VIla in a primigravida with Glanzmann's thrombasthenia during delivery. (15493726)	Kale A.... Yayla M.	2004	F3
18	A novel Ser123Pro substitution in the MIDAS domain of integrin 3 associated with variant Glanzmann's thrombasthenia in an Indian patient. (15590407)	Nair S.... Mohanty D.	2004	ITGB3
19	Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients. (12083483)	D'Andrea G.... Margaglione M.	2002	ITGA2B, ITGB3
20	Two different beta3 cysteine substitutions alter alphaIIb beta3 maturation and result in Glanzmann thrombasthenia. (12152649)	Milet-Marsal S.... Bourre F.	2002	EGF, ITGB3
21	A point mutation in the cysteine-rich domain of glycoprotein (GP) IIIa results in the expression of a GPIIb-IIIa (alphaIIbbeta3) integrin receptor locked in a high-affinity state and a Glanzmann thrombasthenia-like phenotype. (11588040)	Ruiz C.... Valentin N.	2001	ITGB3
22	Glanzmann's thrombasthenia in pregnancy: a case and review of the literature. (10586983)	Sherer D.M.... Lerner R.	1999	F2, F3
23	A Ser162-->Leu mutation within glycoprotein (GP) IIIa (integrin beta3) results in an unstable alphaIIbbeta3 complex that retains partial function in a novel form of type II Glanzmann thrombasthenia. (9684783)	Jackson D.E.... Newman P.J.	1998	ITGB3
24	A Gln747-->Pro substitution in the IIb subunit is responsible for a moderate IIbbeta3 deficiency in Glanzmann thrombasthenia. (9763559)	Tadokoro S.... Matsuzawa Y.	1998	ITGA2B
25	Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia. (9734640)	Ruan J.... Nurden A.T.	1998	ITGA2B
26	Family screening for a Glanzmann's thrombasthenia mutation using PCR-SSCP. (16793688)	Ruan J.... Nurden A.T.	1998	ITGA2B, ITGB3
27	Truncation of the cytoplasmic domain of beta3 in a variant form of Glanzmann thrombasthenia abrogates signaling through the integrin alpha(IIb)beta3 complex. (9351872)	Wang R.... Newman P.J.	1997	PTK2
28	A Leu117-->Trp mutation within the RGD-peptide cross-linking region of beta3 results in Glanzmann thrombasthenia by preventing alphaIIb beta3 export to the platelet surface. (9376589)	Basani R.B.... Poncz M.	1997	ITGB3
29	Glanzmann thrombasthenia caused by an 11.2-kb deletion in the glycoprotein IIIa (beta3) is a second mutation in Iraqi Jews that stemmed from a distinct founder. (9160670)	Rosenberg N.... Seligsohn U.	1997	ITGB3
30	PMA induces platelet activation of specific antigens (CD62/CD63) in GpIIb-IIIa deficient platelets from Glanzmann's thrombasthenia. (16793673)	Baudouin-Brignole F.... Philip P.J.	1997	ITGA2B
31	Glanzmann thrombasthenia due to a two amino acid deletion in the fourth calcium-binding domain of alpha IIb: demonstration of the importance of calcium-binding domains in the conformation of alpha IIb beta 3. (8704171)	Basani R.B.... Poncz M.	1996	ITGA2B
32	A Cys374Tyr homozygous mutation of platelet glycoprotein IIIa (beta 3) in a Chinese patient with Glanzmann's thrombasthenia. (8781422)	Grimaldi C.M.... French D.L.	1996	ITGB3
33	Detection by PCR and HphI restriction analysis of a splice site mutation at the 5' end of intron 15 of the platelet GPIIb (alpha IIb integrin) gene responsible for Glanzmann's thrombasthenia type I in Gypsies originating from the Strasbourg area. (8571335)	de la Salle C.... Cazenave J.P.	1995	ITGA2B
34	Glanzmann's thrombasthenia associated with deletion-insertion and alternative splicing in the glycoprotein IIb gene. (7529063)	Peretz H.... Seligsohn U.	1995	ITGA2B
35	Glanzmann thrombasthenia resulting from a single amino acid substitution between the second and third calcium-binding domains of GPIIb. Role of the GPIIb amino terminus in integrin subunit association. (7706461)	Wilcox D.A.... Newman P.J.	1995	ITGA2B
36	Abnormal processing of the glycoprotein IIb transcript due to a nonsense mutation in exon 17 associated with Glanzmann's thrombasthenia. (7482399)	Tomiyama Y.... Matsuzawa Y.	1995	ITGA2B
37	Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb. (8282784)	Poncz M.... Bennett J.S.	1994	ITGA2B
38	An exon 28 mutation resulting in alternative splicing of the glycoprotein IIb transcript and Glanzmann's thrombasthenia. (8111043)	Iwamoto S.... Ikemoto S.	1994	ITGA2B
39	Molecular abnormalities in Glanzmann's thrombasthenia, Bernard-Soulier syndrome, and platelet-type von Willebrand's disease. (9371310)	Clemetson K.J.... Clemetson J.M.	1994	GP9, GP1BA
40	Glanzmann's thrombasthenia with mild von Willebrand's disease. (8282841)	Nounou R.... Spence D.	1993	F2, F3
41	Platelet-derived microparticle formation involves glycoprotein IIb-IIIa. Inhibition by RGDS and a Glanzmann's thrombasthenia defect. (8325838)	Gemmell C.H.... Yeo E.L.	1993	PSMG1
42	Identification of a nonsense mutation at amino acid 584-arginine of platelet glycoprotein IIb in patients with type I Glanzmann thrombasthenia. (8485050)	Gu J.M.... Ruan C.G.	1993	ITGA2B
43	Application of GPIIIa gene Taq I polymorphism to determination of carrier status in Glanzmann's thrombasthenia families of Chinese origin. (8095357)	Ruan C.... Pan J.	1993	ITGB3
44	Glanzmann's thrombasthenia: a rare example of an integrin deficit (1462042)	Perutelli P.... Mori P.G.	1992	ITGA2B, ITGB3
45	Characterization of an antibody to the integrin beta 3 subunit (GP IIIa) from a patient with neonatal thrombocytopenia and an inherited deficiency of GP IIb-IIIa complexes in platelets (Glanzmann's thrombasthenia). (1633270)	Jallu V.... Nurden A.T.	1992	ITGB3
46	Biochemical and molecular basis of Glanzmann's thrombasthenia. (1483593)	Perutelli P.... Mori P.G.	1992	ITGA2B, VTN
47	Molecular pathology of inherited Glanzmann's thrombasthenia. Report of 11 cases (1306460)	Ruan C.G.... Li J.Y.	1992	ITGA2B
48	Molecular basis for Glanzmann's thrombasthenia (GT) in a compound heterozygote with glycoprotein IIb gene: a proposal for the classification of GT based on the biosynthetic pathway of glycoprotein IIb-IIIa complex. (1317725)	Kato A.... Aoki N.	1992	ITGA2B, ITGB3
49	The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel. (2014236)	Newman P.J.... Coller B.S.	1991	ITGA2B, ITGB3
50	A deletion in the gene for glycoprotein IIb associated with Glanzmann's thrombasthenia. (1702098)	Burk C.D.... Poncz M.	1991	ITGA2B, ITGB3

Genes related to glanzmann's thrombasthenia according to GeneCards:

(show all 38)

id	Symbol	Description	Score	GeneCards Section Context
1	ITGA2B	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	11.1	Publications
2	ITGB3	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	11.1	Publications
3	TNXA	tenascin XA (pseudogene)	11.0
4	CD47	CD47 molecule	11.0
5	GP1BA	glycoprotein Ib (platelet), alpha polypeptide	11.0	Publications
6	RECK	reversion-inducing-cysteine-rich protein with kazal motifs	11.0	Publications
7	PF4	platelet factor 4	11.0
8	RAP1A	RAP1A, member of RAS oncogene family	11.0
9	PECAM1	platelet/endothelial cell adhesion molecule 1	11.0
10	VTN	vitronectin	11.0	Publications
11	ITGA2	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	11.0	Publications
12	F10	coagulation factor X	11.0
13	CD9	CD9 molecule	11.0
14	THBS1	thrombospondin 1	11.0
15	F2R	coagulation factor II (thrombin) receptor	11.0
16	FN1	fibronectin 1	11.0
17	F9	coagulation factor IX	11.0
18	F3	coagulation factor III (thromboplastin, tissue factor)	11.0	Publications
19	VWF	von Willebrand factor	11.0
20	PTK2	PTK2 protein tyrosine kinase 2	11.0	Publications
21	F8	coagulation factor VIII, procoagulant component	11.0
22	SEBOX	SEBOX homeobox	11.0
23	C16orf53	chromosome 16 open reading frame 53	11.0
24	PSMG1	proteasome (prosome, macropain) assembly chaperone 1	11.0	Publications
25	GP9	glycoprotein IX (platelet)	11.0	Publications
26	GTF3A	general transcription factor IIIA	11.0	Publications
27	THRA	thyroid hormone receptor, alpha	11.0	Publications
28	LPO	lactoperoxidase	11.0
29	RALGDS	ral guanine nucleotide dissociation stimulator	11.0
30	POU2F3	POU class 2 homeobox 3	11.0
31	NAGLU	N-acetylglucosaminidase, alpha	11.0	Publications
32	HLA-DPA1	major histocompatibility complex, class II, DP alpha 1	11.0
33	F7	coagulation factor VII (serum prothrombin conversion accelerator)	11.0
34	F2	coagulation factor II (thrombin)	11.0	Publications
35	MTHFR	methylenetetrahydrofolate reductase (NAD(P)H)	11.0	Publications
36	F5	coagulation factor V (proaccelerin, labile factor)	11.0	Publications
37	PRL	prolactin	11.0	Publications
38	EGF	epidermal growth factor	11.0	Publications

Pathways related to glanzmann's thrombasthenia according to GeneDecks:

(show all 41)

id	Pathway	Score	Top Affiliating Genes
1	Gamma-carboxylation of protein precursors38	10.4	F9, F10
2	Glioma Invasiveness36	10.3	PTK2, F2R, ITGA2B, VTN
3	Phagocytosis of Microbes36	10.2	FN1, ITGB3, ITGA2B, ITGA2, VTN
4	Cell adhesion_Endothelial cell contacts by non-junctional mechanisms41	10.2	PECAM1, FN1, ITGB3, ITGA2, VTN
5	Cell adhesion Endothelial cell contacts by non-junctional mechanisms10	10.2	PECAM1, FN1, ITGB3, ITGA2, VTN
6	HGF Pathway36	10.1	PTK2, ITGB3, ITGA2B, ITGA2, RAP1A
7	Cell adhesion_Integrin inside-out signaling41	10.1	PTK2, F2R, FN1, ITGB3, ITGA2
8	Cytoskeleton remodeling_Integrin outside-in signaling41	10.1	PTK2, FN1, ITGB3, ITGA2, VTN
9	Cytoskeleton remodeling_FAK signaling41	10.1	PTK2, FN1, ITGA2, RAP1A
10	Cytoskeleton remodeling Integrin outside-in signaling10	10.1	PTK2, FN1, ITGB3, ITGA2, VTN
11	Cytoskeleton remodeling FAK signaling10	10.1	PTK2, FN1, ITGA2, RAP1A
12	Cell surface interactions at the vascular wall38	10.0	CD47, F2
13	Hematopoietic cell lineage20	10.0	GP1BA, GP9, ITGB3, ITGA2B, ITGA2, CD9
14	UPA-UPAR Pathway36	10.0	PTK2, FN1, ITGB3, ITGA2B, ITGA2, VTN
15	Integrin Pathway36	10.0	PTK2, FN1, ITGB3, ITGA2B, ITGA2, CD47
16	Small cell lung cancer20	9.9	PTK2, FN1, ITGA2B, ITGA2
17	Calpain Protease Regulates Cellular Mechanics36	9.7	EGF, PTK2, ITGB3, ITGA2B, ITGA2
18	Response to elevated platelet cytosolic Ca2+38	9.7	THBS1, F8, CD9
19	Warfarin Pathway, Pharmacodynamics34	9.7	F10, F2, F7, F9
20	Regulation of actin cytoskeleton20	9.6	EGF, PTK2, F2R, FN1, ITGA2B, ITGA2
21	FAK1 Signaling36	9.6	EGF, PTK2, FN1, ITGB3, ITGA2B, ITGA2
22	Cell adhesion Integrin inside-out signaling10	9.6	PTK2, F2R, F2, FN1, ITGB3, ITGA2B
23	ERK Signaling36	9.5	EGF, PF4, PTK2, FN1, ITGA2B, RAP1A
24	GnRH Signaling36	9.5	EGF, PTK2, FN1, ITGB3, ITGA2B, ITGA2
25	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics34	9.5	F2R, F2, GP9, ITGB3, ITGA2B, ITGA2
26	ECM-receptor interaction20	9.4	THBS1, GP1BA, GP9, FN1, ITGB3, ITGA2B
27	Ras Pathway36	9.4	EGF, ITGB3, ITGA2B, ITGA2, RALGDS, RAP1A
28	Rac1 Pathway36	9.4	ITGA2, ITGA2B, ITGB3, PTK2, EGF
29	PTEN Pathway36	9.4	EGF, PTK2, FN1, ITGB3, ITGA2B, ITGA2
30	MAPK Signaling36	9.3	EGF, PTK2, FN1, ITGB3, ITGA2B, ITGA2
31	Phospholipase-C Pathway36	9.3	EGF, FN1, ITGB3, ITGA2B, ITGA2, RALGDS
32	Intrinsic Prothrombin Activation Pathway36	9.2	F9, F8, F5, F2, F10
33	Rho Family GTPases36	9.2	EGF, PF4, PTK2, FN1, ITGB3, ITGA2B
34	Transendothelial Migration of Leukocytes36	9.2	PECAM1, PF4, PTK2, F2R, F2, FN1
35	Pathways in cancer20	9.1	RALGDS, ITGA2, ITGA2B, PTK2, EGF
36	Molecular Mechanisms of Cancer36	9.1	EGF, PF4, PTK2, FN1, ITGA2B, ITGA2
37	Extrinsic Prothrombin Activation Pathway36	9.1	F10, F2, F3, F5, F7
38	Focal adhesion20	9.1	THBS1, EGF, PTK2, FN1, ITGB3, ITGA2B
39	Blood Coagulation Cascade36	8.7	F10, F2, F3, F5, F7, F8
40	Complement and coagulation cascades20	8.4	F10, F2R, F2, F3, F5, F7
41	Blood Coagulation Signaling Pathways37	8.2	VWF, F10, F2, F3, F5, F7

Compounds related to glanzmann's thrombasthenia according to GeneDecks:

(show top 50)    (show all 241)

id	Compound	Score	Top Affiliating Genes
1	clopidogrel32 34 9 18 9	14.2	F10, TNXA, F2R, PECAM1
2	glucose32	10.0	GTF3A, ITGA2, LPO, GP1BA
3	polyethylene glycol32	9.9	PF4, F10, F8, FN1, CD9, VTN
4	citrate32	9.6	NAGLU, F9, F8, F10, PF4
5	abciximab32 9 9	11.5	VWF, F2R, VTN, ITGA2B, F3, F2
6	hirudin32	9.5	GP1BA, F9, F5, F10, TNXA, PF4
7	rfviii32	9.4	F8, F9, VWF, F5, F10
8	grgds32	9.3	PTK2, F3, VTN, FN1, THBS1
9	danaparoid32	9.2	PF4, TNXA, F5, F3, F10, F2
10	cacl232	9.2	F8, F9, THBS1, F5, F3, F10
11	tirofiban32 9 9	11.2	VWF, F3, F2, F2R, F10, PF4
12	thromboxane a232 18	10.1	F8, ITGA2, NAGLU, VWF, CD9, F2R
13	bivalirudin32 9 9	11.1	F5, F3, F2, F2R, F10, TNXA
14	fondaparinux32	9.1	F5, F9, F3, F2, F10, TNXA
15	kaolin32	9.0	F10, F2, F3, F5, F8, F9
16	dextran sulfate32	9.0	THBS1, CD9, FN1, F9, PF4, F10
17	cytochalasin d32 42	9.9	PECAM1, THBS1, EGF, PTK2, F2R, GP1BA
18	phosphatidylserine32 9 9	10.7	RECK, VWF, CD47, GP1BA, F9, F5
19	latex32	8.7	THBS1, PF4, PTK2, F2R, F8, F9
20	pge132	8.7	RAP1A, CD9, PTK2, PF4, VWF, F2R
21	epinephrine32 9 18 9	11.6	F2, F2R, F3, F5, F8, GP1BA
22	dermatan sulfate32	8.6	TNXA, VWF, VTN, FN1, F9, F5
23	desmopressin32 42 9 9	11.6	F8, GP1BA, F5, F3, NAGLU, VWF
24	polysaccharide32	8.6	VTN, CD9, F5, FN1, RECK, F3
25	aprotinin32 9 9	10.4	F5, F2, F2R, F10, PF4, F9
26	prostacyclin32	8.4	F8, F5, F3, F2R, PTK2, PF4
27	kininogen32	8.3	THBS1, VWF, VTN, PF4, F2, F3
28	ristocetin32	8.3	F2, F3, F5, F2R, F8, F9
29	gamma-carboxyglutamic acid32	8.1	F9, F7, F5, F3, F2, F10
30	aspartate32	8.1	F2, F10, F8, F7, F5, NAGLU
31	phospholipid32	8.1	POU2F3, F3, PECAM1, F2, TNXA, F10
32	warfarin32 34 9 18 9	11.9	VWF, PF4, MTHFR, F9, F8, F7
33	heparin32 9 18 9	10.8	F3, F2, F2R, F10, TNXA, PTK2
34	cyclosporin a32 42	8.8	RECK, NAGLU, MTHFR, FN1, F9, F8
35	levonorgestrel32 9 9	9.7	F3, F7, PRL, F2R, F2, F5
36	lactate32	7.6	PF4, LPO, NAGLU, F10, VWF, RECK
37	adp32 18	8.6	RECK, VWF, VTN, F10, PTK2, PF4
38	cysteine32	7.4	RECK, VTN, NAGLU, THBS1, EGF, PF4
39	aspirin32 34 18	9.4	F2R, F2, F3, F5, F8, GP1BA
40	vegf32	7.2	F3, F2R, F10, PTK2, PF4, EGF
41	tyrosine32	7.2	VTN, LPO, RAP1A, CD47, ITGA2, F8
42	cholesterol32 9 18 9	10.1	PF4, F2R, F5, F7, RECK, VWF
43	arginine32	7.1	PF4, ITGA2, FN1, F9, PTK2, TNXA
44	creatinine32	7.0	PF4, TNXA, F2, F3, F5, VWF
45	fibrinogen32	6.8	ITGA2B, TNXA, PF4, THBS1, PSMG1, PECAM1
46	retinoic acid32 42 18	8.8	PTK2, ITGA2, CD9, CD47, MTHFR, VTN
47	alanine32	6.4	F9, FN1, GP1BA, GTF3A, ITGB3, CD9
48	estrogen32	5.8	THBS1, F5, F2R, F9, FN1, ITGB3
49	calcium32 9 18 9	8.8	F2R, F8, F9, GP1BA, ITGB3, ITGA2B
50	serine32	5.2	GTF3A, FN1, ITGB3, ITGA2B, CD47, MTHFR

Cellular components related to glanzmann's thrombasthenia according to GeneDecks:

(show all 11)

id	Name	GO ID	Score	Top Affiliating Genes
1	platelet alpha granule membrane	GO:031092	10.2	PECAM1, ITGB3, ITGA2B, CD9
2	intrinsic to external side of plasma membrane	GO:031233	10.2	F3, F10
3	alphav-beta3 integrin-vitronectin complex	GO:071062	10.1	ITGB3, VTN
4	integrin complex	GO:008305	9.8	ITGA2, ITGA2B, ITGB3
5	external side of plasma membrane	GO:009897	9.8	THBS1, ITGA2B, ITGA2, CD9, VWF
6	extracellular matrix	GO:031012	9.8	THBS1, F3, FN1, VTN, VWF
7	Golgi lumen	GO:005796	9.3	F9, F7, F2, F10
8	platelet alpha granule lumen	GO:031093	8.7	VWF, FN1, F8, F5, PF4, EGF
9	extracellular space	GO:005615	7.3	PECAM1, THBS1, EGF, PF4, F2, F3
10	extracellular region	GO:005576	6.3	F2R, F10, PF4, EGF, THBS1, PRL
11	plasma membrane	GO:005886	6.1	F7, F5, F3, F2, F2R, F10

Biological processes related to glanzmann's thrombasthenia according to GeneDecks:

(show all 18)

id	Name	GO ID	Score	Top Affiliating Genes
1	integrin-mediated signaling pathway	GO:007229	10.0	CD47, ITGA2, ITGA2B, ITGB3, PTK2
2	cell-matrix adhesion	GO:007160	9.9	ITGB3, ITGA2B, ITGA2, VTN
3	regulation of blood coagulation	GO:030193	9.9	F2R, F2, GP1BA
4	positive regulation of platelet-derived growth factor receptor signaling pathway	GO:010641	9.9	F7, F3
5	blood coagulation, extrinsic pathway	GO:007598	9.8	F10, F3, F7, F9
6	acute-phase response	GO:006953	9.7	FN1, F8, F2
7	leukocyte migration	GO:050900	9.6	CD47, ITGB3, FN1, F2, PECAM1
8	positive regulation of protein kinase B signaling cascade	GO:051897	9.6	THBS1, PTK2, F10, F3, F7
9	response to wounding	GO:009611	9.6	F2R, F2, FN1, VWF
10	positive regulation of blood coagulation	GO:030194	9.5	THBS1, F2R, F2, F7
11	peptidyl-glutamic acid carboxylation	GO:017187	9.5	F9, F7, F2, F10
12	STAT protein import into nucleus	GO:007262	9.5	F2R, EGF
13	positive regulation of cell migration	GO:030335	9.5	THBS1, PTK2, F10, F2R, F3, F7
14	blood coagulation, intrinsic pathway	GO:007597	9.2	VWF, GP9, GP1BA, F9, F8, F2
15	platelet degranulation	GO:002576	8.3	PECAM1, THBS1, EGF, PF4, F5, F8
16	cell adhesion	GO:007155	8.2	THBS1, PECAM1, F5, F8, GP1BA, VWF
17	platelet activation	GO:030168	7.0	PF4, PTK2, F2R, F2, F5, F8
18	blood coagulation	GO:007596	5.9	F9, GP1BA, GP9, FN1, ITGB3, ITGA2B

Molecular functions related to glanzmann's thrombasthenia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	thrombin receptor activity	GO:015057	10.2	GP1BA, F2R
2	integrin binding	GO:005178	9.9	THBS1, CD9, VTN, VWF
3	thrombospondin receptor activity	GO:070053	9.8	CD47, F2
4	glycoprotein binding	GO:001948	9.4	VWF, F7, THBS1
5	protein binding	GO:005515	5.5	VWF, F2R, F10, PTK2, C16orf53, EGF