MCID: THR035
MIFTS: 37

Thrombasthenia malady

Blood diseases category

Summaries for Thrombasthenia

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63Wikipedia, 32MalaCards
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Wikipedia:63 Glanzmann\'s thrombasthenia is an abnormality of platelets. It is an extremely rare coagulopathy... more...

MalaCards: Thrombasthenia is related to glanzmann's thrombasthenia and bernard-soulier syndrome. An important gene associated with Thrombasthenia is ITGA2B (integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)), and among its related pathways are PECAM1 interactions and Platelet Adhesion to exposed collagen. The compounds estrogen and epinephrine have been mentioned in the context of this disorder. Related mouse phenotypes are limbs/digits/tail and embryogenesis.

Aliases & Classifications for Thrombasthenia

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42NIH Rare Diseases, 60UMLS
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Classifications:

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Anatomical: Blood diseases


Aliases & Descriptions:

thrombasthenia 42 60


Related Diseases for Thrombasthenia

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17GeneCards, 18GeneDecks
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Diseases related to Thrombasthenia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 171)
idRelated DiseaseScoreTop Affiliating Genes
1glanzmann's thrombasthenia31.6ITGA2B, ITGB3
2bernard-soulier syndrome30.6F2R, GP1BA, RECK, ITGA2, ITGA2B, ITGB3
3von willebrand's disease30.4GP1BA, F3, ITGA2B, F8, F9
4thrombocytopenia30.3PECAM1, F2R, GP1BA, F3, RECK, PF4
5hemarthrosis30.1F3, F10, F8, F9
6leukemia30.1PECAM1, PTK2, RAP1A, F2R, RECK, PF4
7atherosclerosis30.0PECAM1, VTN, PTK2, THBS1, F2R, F3
8lupus erythematosus29.8F3
9hepatitis a29.8F8
10myeloid leukemia29.8RAP1A, FN1
11autoimmune thrombocytopenic purpura29.8GP1BA, ITGB3, F8
12amyloidosis29.8F10, F9
13endometriosis29.8VTN, FN1, ITGB3
14factor xi deficiency29.8F3, F8, F9
15hepatitis29.8F2R, F10, F8, F9
16systemic lupus erythematosus29.8VTN, F3, RECK, F10, F8
17duodenitis10.1
18acquired thrombocytopenia10.0
19hermansky-pudlak syndrome10.0
20acute leukemia10.0
21gingivitis10.0
22purpura10.0
23thrombasthenia of glanzmann and naegeli, itgb3-related10.0
24thrombasthenia of glanzmann and naegeli, itga2b-related10.0
25hemorrhagic disease10.0F9
26peritonitis10.0PECAM1
27cerebrovascular disease10.0RECK
28polycythemia10.0ITGB3
29liver cirrhosis10.0ITGB3
30protein c deficiency10.0F9
31oral cancer10.0ITGA2
32kaposi's sarcoma10.0F8
33wiskott-aldrich syndrome10.0RECK
34hypertension10.0FN1
35acquired immunodeficiency syndrome10.0F8
36hyperglycemia10.0PECAM1, VTN
37polycythemia vera10.0PF4, ITGB3
38nephrotic syndrome10.0VTN, F9
39coronary thrombosis10.0F3, ITGB3
40hyperhomocysteinemia10.0F8, F9
41colon adenocarcinoma10.0PTK2
42protein s deficiency10.0F3, F8
43proliferative diabetic retinopathy10.0VTN, THBS1
44factor xii deficiency10.0F3, F9
45primary hyperoxaluria10.0FN1, F8
46obesity10.0THBS1, F2R
47factor v deficiency10.0F3, F8
48sickle cell disease10.0THBS1, PF4, F9
49carotid artery thrombosis10.0F3
50pneumonia10.0VTN, F2R, CD9

Graphical network of the top 20 diseases related to Thrombasthenia:



Diseases related to thrombasthenia

Clinical Features for Thrombasthenia

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Drugs & Therapeutics for Thrombasthenia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Genetic Tests for Thrombasthenia

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Anatomical Context for Thrombasthenia

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Animal Models for Thrombasthenia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Thrombasthenia:

36 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537110.3CD47
2MP:000538010.1F2R, F3, ITGA2B
3MP:000200610.1F3, F2R, THBS1, PTK2
4MP:000536910.0THBS1, F3, CD47
5MP:00053899.9F8, ITGB3, ITGA2B, F10, CD9, THBS1
6MP:00107719.8ITGA2, FN1, CD47, RECK, PTK2
7MP:00053709.7F9, ITGB3, RECK, F2R, THBS1, PTK2
8MP:00053849.6FN1, CD47, F3, GP1BA, F2R, RAP1A
9MP:00053909.6FN1, CD9, CD47, PECAM1
10MP:00053858.9F9, ITGB3, ITGA2B, F10, FN1, CD47
11MP:00053878.9FN1, ITGA2B, ITGB3, F8, F9, CD9
12MP:00107688.9F9, F8, ITGB3, F10, FN1, CD47
13MP:00053768.7FN1, F10, ITGA2, ITGA2B, ITGB3, F8
14MP:00053978.5PECAM1, F9, F8, ITGB3, ITGA2B, ITGA2

Publications for Thrombasthenia

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Genetic Variations for Thrombasthenia

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Expression for genes affiliated with Thrombasthenia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Thrombasthenia

Search GEO for disease gene expression data for Thrombasthenia.

Pathways for genes affiliated with Thrombasthenia

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Sources:
53Reactome, 51QIAGEN, 37NCBI BioSystems Database, 52R&D Systems, 4Cell Signaling Technology, 49PharmGKB, 29KEGG, 12EMD Millipore
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Pathways related to Thrombasthenia according to GeneCards/GeneDecks:

(show all 42)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3PECAM1, ITGB3
210.3GP1BA, ITGA2
3
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10.2VTN, PTK2
410.2ITGB3, ITGA2B, ITGA2
5
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10.1ITGB3, FN1, VTN
610.1VTN, GP1BA, FN1
710.1FN1, ITGA2, ITGA2B
810.1FN1, THBS1, VTN
910.1ITGB3, RECK, PECAM1
10
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10.1F9, F10, F3
1110.0ITGB3, ITGA2B, ITGA2, F2R
12
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10.0ITGB3, ITGA2B, ITGA2, PTK2
13
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10.0ITGB3, ITGA2B, ITGA2, PTK2
1410.0VTN, CD47, FN1, ITGB3
1510.0PECAM1, CD47, FN1, ITGB3
16
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10.0RAP1A, FN1, ITGA2B, ITGB3
179.9ITGA2B, ITGA2, FN1, PTK2
189.9PTK2, RAP1A, ITGA2B, ITGB3
199.9VTN, FN1, ITGA2, ITGA2B, ITGB3
20
Cell adhesion Endothelial cell contacts by non-junctional mechanisms
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9.9ITGB3, ITGA2, FN1, VTN, PECAM1
219.9ITGB3, ITGA2B, ITGA2, CD9, GP1BA
22
Development Endothelin-1/EDNRA signaling
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9.8ITGA2, FN1, RAP1A, PTK2
23
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9.8F9, F8, F10, F3, GP1BA
24
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9.8F9, F8, F10, F3, F2R
25
Cell adhesion Integrin-mediated cell adhesion and migration
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9.8ITGB3, ITGA2, FN1, PTK2, VTN
26
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9.8PTK2, PF4, ITGA2, ITGA2B, ITGB3
27
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9.7ITGB3, ITGA2B, ITGA2, FN1, F2R, PTK2
289.7ITGB3, ITGA2, FN1, THBS1, PTK2, VTN
29
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9.7ITGB3, ITGA2B, FN1, GP1BA, RAP1A, PTK2
30
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9.6ITGB3, ITGA2B, ITGA2, FN1, RAP1A, PTK2
31
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9.6ITGB3, ITGA2B, ITGA2, F2R, RAP1A, PTK2
32
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9.5ITGB3, ITGA2B, ITGA2, FN1, F2R, RAP1A
33
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9.5F3, GP1BA, F2R, RAP1A, THBS1, PTK2
34
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9.5ITGB3, ITGA2B, ITGA2, FN1, PF4, RAP1A
359.5ITGB3, ITGA2B, ITGA2, FN1, F2R, THBS1
36
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9.4F8, ITGB3, ITGA2B, FN1, CD9, PF4
37
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9.4ITGB3, ITGA2B, ITGA2, FN1, RAP1A, THBS1
38
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9.2VTN, THBS1, F3, FN1, F10, ITGA2
39
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9.2PECAM1, ITGB3, ITGA2B, ITGA2, FN1, CD47
40
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9.1F9, F8, ITGB3, ITGA2B, ITGA2, F10
41
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9.0ITGB3, ITGA2B, ITGA2, FN1, PF4, F2R
42
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8.9ITGB3, ITGA2B, PECAM1, VTN, PTK2, THBS1

Compounds for genes affiliated with Thrombasthenia

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Thrombasthenia according to GeneCards/GeneDecks:

(show top 50)    (show all 186)
idCompoundScoreTop Affiliating Genes
1estrogen4410.4F8, F9
2epinephrine44 11 2412.3F8, PF4, F3, GP1BA
3danaparoid4410.2TNXA, F10, PF4, F3
4kaolin4410.2F8, F10, F3, F9
5cacl24410.2F10, F8, F3, THBS1, F9
6fondaparinux4410.1F9, PF4, TNXA, F10, F3
7grgds4410.1F3, FN1, PTK2, THBS1, VTN
8bivalirudin44 1111.1F3, F2R, TNXA, F10
9adp44 28 2412.1ITGA2B, ITGA2, CD9, PF4, F2R, PECAM1
10gamma-carboxyglutamic acid4410.1PF4, F10, F3, TNXA, F9
11kininogen4410.0VTN, GP1BA, F3, PF4, F9, THBS1
12clopidogrel49 44 11 2413.0ITGA2, F10, ITGB3, F3, PECAM1, TNXA
13ristocetin4410.0F2R, GP1BA, F3, RECK, ITGB3, F8
14grgdsp4410.0FN1, THBS1, VTN, ITGA2
15aspartate4410.0F8, F10, F2R, VTN
16glucose4410.0F2R, PF4, RECK, GP1BA, THBS1, PTK2
17abciximab44 1110.9VTN, F2R, GP1BA, F3, PF4, F10
18tirofiban44 1110.9ITGB3, ITGA2B, ITGA2, F10, VTN, F2R
19dermatan sulfate449.9TNXA, F9, F10, FN1, PF4, F3
20cytochalasin d44 5910.9PECAM1, GP1BA, F2R, THBS1, PTK2, VTN
21aprotinin44 1110.9F3, F9, F10, FN1, PF4, RECK
22thromboxane a244 2410.9F8, ITGA2, PF4, F2R, PTK2, CD9
23polyethylene glycol449.8VTN, F10, FN1, CD9, PF4, F8
24dextran sulfate449.8VTN, THBS1, F3, PF4, CD9, FN1
25phospholipid449.7F8, TNXA, F9, ITGA2, F10, F3
26polyacrylamide449.7ITGA2, F9, TNXA, F8, FN1, RECK
27hirudin449.7THBS1, F2R, GP1BA, F3, PF4, F10
28matrigel449.7ITGA2, PECAM1, VTN, PTK2, THBS1, FN1
29phosphatidylserine44 28 1111.6GP1BA, F3, RECK, CD47, F10, PTK2
30ly294002449.5VTN, PTK2, RAP1A, F2R, THBS1, CD9
31serine449.4F10, FN1, CD47, GP1BA, THBS1, PTK2
32latex449.4F2R, GP1BA, PF4, CD9, FN1, ITGA2
33prostacyclin449.4PECAM1, VTN, PTK2, THBS1, RAP1A, F2R
34vegf449.4PF4, RECK, F3, F2R, RAP1A, THBS1
35lysine449.4F8, F9, VTN, TNXA, RECK, PF4
36polysaccharide449.4TNXA, F8, ITGA2, F10, FN1, CD9
3712-o-tetradecanoylphorbol 13-acetate449.3PF4, CD9, ITGA2, ITGA2B, PTK2, RAP1A
38phosphatidylinositol449.3THBS1, ITGA2, PTK2, CD9, CD47, GP1BA
39cholesterol44 28 11 2412.3PTK2, F8, F9, CD47, PF4, RECK
40heparin44 28 11 2412.3F9, F8, ITGA2, F10, FN1, PF4
41methionine449.3F9, RECK, ITGA2, THBS1, FN1, F8
42aspirin44 49 28 2412.2TNXA, PECAM1, VTN, F8, ITGB3, ITGA2
43retinoic acid44 2410.2PTK2, CD47, CD9, ITGA2, FN1, F3
44lipid449.2RAP1A, THBS1, RECK, PF4, VTN, ITGA2
45arginine449.1VTN, RAP1A, F10, F2R, RECK, PTK2
46alanine449.0ITGB3, F10, FN1, CD9, PF4, F3
47cysteine448.8F9, VTN, PECAM1, PTK2, THBS1, F2R
48tyrosine448.7RAP1A, F9, VTN, PTK2, THBS1, CD9
49calcium44 49 11 2411.5F9, TNXA, PTK2, VTN, PECAM1, THBS1
50fibrinogen448.4F9, TNXA, RECK, PF4, GP1BA, CD47

GO Terms for genes affiliated with Thrombasthenia

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16Gene Ontology
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Cellular components related to Thrombasthenia according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1alphav-beta3 integrin-vitronectin complexGO:07106210.4VTN, ITGB3
2integrin complexGO:00830510.3ITGB3, ITGA2B, ITGA2
3platelet alpha granule membraneGO:03109210.2PECAM1, CD9, ITGA2B, ITGB3
4intrinsic to external side of plasma membraneGO:03123310.2F3, F10
5platelet alpha granule lumenGO:03109310.1F8, FN1, PF4, THBS1
6extracellular matrixGO:03101210.1FN1, F3, THBS1, VTN
7fibrinogen complexGO:0055779.9THBS1, FN1
8external side of plasma membraneGO:0098979.9ITGA2B, ITGA2, CD9, THBS1
9extracellular spaceGO:0056159.8F8, FN1, PF4, F3, THBS1, VTN
10integral to plasma membraneGO:0058879.7ITGA2B, CD9, CD47, GP1BA, F2R, ITGB3
11extracellular regionGO:0055769.5F9, F8, F10, FN1, PF4, F2R
12plasma membraneGO:0058868.8F10, ITGA2, ITGA2B, ITGB3, F8, F9

Biological processes related to Thrombasthenia according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1blood coagulation, extrinsic pathwayGO:00759810.3F10, F3, F9
2cell-substrate junction assemblyGO:00704410.3FN1, ITGB3
3regulation of blood coagulationGO:03019310.3GP1BA, F2R
4blood coagulation, intrinsic pathwayGO:00759710.2F10, GP1BA, F8, F9
5positive regulation of blood coagulationGO:03019410.2F2R, THBS1
6cell-matrix adhesionGO:00716010.2ITGB3, ITGA2B, VTN, ITGA2
7peptidyl-glutamic acid carboxylationGO:01718710.1F9, F10
8positive regulation of protein kinase B signaling cascadeGO:05189710.1F10, THBS1, PTK2, F3
9leukocyte migrationGO:05090010.1FN1, ITGB3, PECAM1, CD47
10integrin-mediated signaling pathwayGO:00722910.1ITGA2B, ITGA2, CD47, PTK2, ITGB3
11positive regulation of cell migrationGO:03033510.0PTK2, THBS1, F2R, F3, F10
12positive regulation of smooth muscle cell migrationGO:0149119.9VTN, PTK2
13platelet degranulationGO:0025769.7THBS1, PF4, CD9, FN1, ITGA2B, ITGB3
14extracellular matrix organizationGO:0301989.7VTN, PTK2, THBS1, RECK, FN1, ITGB3
15cell adhesionGO:0071559.4VTN, GP1BA, F8, PECAM1, THBS1, ITGB3
16platelet activationGO:0301689.1PTK2, THBS1, RAP1A, F8, ITGB3, ITGA2B
17blood coagulationGO:0075968.5PF4, F9, F8, ITGB3, ITGA2B, ITGA2

Molecular functions related to Thrombasthenia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1thrombin receptor activityGO:01505710.3F2R, GP1BA
2integrin bindingGO:0051789.8CD9, THBS1, PTK2, VTN
3heparin bindingGO:0082019.6VTN, THBS1, PF4, FN1
4protein bindingGO:0055158.2PECAM1, F8, ITGB3, ITGA2B, ITGA2, F10

Products for genes affiliated with Thrombasthenia

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Sources for Thrombasthenia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet