MCID: QLT001
MIFTS: 30

Qualitative Platelet Defect malady

Immune diseases, Blood diseases categories

Aliases & Classifications for Qualitative Platelet Defect

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Sources:
10Disease Ontology, 47Novoseek, 12DISEASES, 65UMLS, 59SNOMED-CT, 29ICD9CM, 27ICD10
See all sources

Aliases & Descriptions for Qualitative Platelet Defect:

Name: Qualitative Platelet Defect 10 12
Qualitative Platelet Deficiency Nos 10
 
Qualitative Platelet Deficiency 65
Qualitative Platelet Defects 47


Classifications:



External Ids:

Disease Ontology10 DOID:11125
ICD9CM29 287.1
ICD1027 D69.1

Summaries for Qualitative Platelet Defect

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MalaCards based summary: Qualitative Platelet Defect, also known as qualitative platelet deficiency nos, is related to gray platelet syndrome and bernard-soulier syndrome, type c. An important gene associated with Qualitative Platelet Defect is VWF (Von Willebrand Factor), and among its related pathways are Platelet Adhesion to exposed collagen and GP1b-IX-V activation signalling. Related mouse phenotypes are hematopoietic system and homeostasis/metabolism.

Related Diseases for Qualitative Platelet Defect

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Diseases related to Qualitative Platelet Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 150)
idRelated DiseaseScoreTop Affiliating Genes
1gray platelet syndrome30.4SELP, VWF
2bernard-soulier syndrome, type c30.2F2, GP1BA, ITGA2B, VWF
3split-hand/foot malformation with long bone deficiency 310.3GP1BA, VWF
4acral dysostosis dyserythropoiesis syndrome10.3GP1BA, VWF
5congenital chloride diarrhea10.3F3, VWF
6diffuse idiopathic skeletal hyperostosis10.3F2, F3
7relapsing polychondritis10.3F2, F3
8irritable bowel syndrome10.3F2, F3
9fowler's syndrome10.3F2, F3
10barrett's adenocarcinoma10.3F2, F3
11tall stature - scoliosis - macrodactyly of the great toes10.2F2, F3
12cervical alveolar soft part sarcoma10.2F2, F3
13sertoli cell tumor10.2F2, F3
14nephropathia epidemica10.2F2, F3
15suppurative uveitis10.2F2, F3
16cerebral neuroblastoma10.2F2, F3
17dic in newborn10.2F2, F3
18abducens nerve neoplasm10.2F2, F3
19anterior scleritis10.2F2, F3
20splenic manifestation of leukemia10.2F2, F3
21pulmonary valve agenesis - fallot's tetralogy - absence of ductus arteriosus10.2F2, VWF
22heterotopia, periventricular10.2F3, VWF
23middle ear adenocarcinoma10.2F2, F3
24factor xi deficiency, autosomal recessive10.2F2, F3
25lambert-eaton myasthenic syndrome10.2F2, F3
26cavernous sinus thrombosis10.2F2, F3
27sternum cancer10.2F2, VWF
28fetal antihypertensive drugs syndrome10.2GP1BA, ITGA2B
29moderately severe hemophilia a10.2F2, F3
30intestine carcinoma in situ10.2F2, F3
31peritoneal benign neoplasm10.2F2, F3
32granulomatous myositis10.2F3, ITGA2B
33hemorrhagic proctocolitis10.2F2, F3
34cutis gyrata - acanthosis nigricans - craniosynostosis10.2GP1BA, ITGA2B
35pyometritis10.2F2, GP1BA
36endocervical carcinoma10.2F2, F3
37inner ear disease10.2GP1BA, VWF
38central retinal vein occlusion10.2F2, F3
39venous insufficiency10.2F2, F3
40autoimmune disease of endocrine system10.2GP1BA, ITGA2B
41membranoproliferative glomerulonephritis10.2F2, ITGA2B
42islet cell tumor10.2F2, GP1BA
43thrombophilia, x-linked, due to factor ix defect10.2F2, F3
44factor x deficiency10.2F2, F3
45quebec platelet disorder10.2
46glanzmann thrombasthenia10.2
47thrombocytopenia10.2
48heparin-induced thrombocytopenia10.2
49white platelet syndrome10.2
50isolated delta-storage pool disease10.2

Graphical network of the top 20 diseases related to Qualitative Platelet Defect:



Diseases related to qualitative platelet defect

Symptoms for Qualitative Platelet Defect

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Drugs & Therapeutics for Qualitative Platelet Defect

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Drugs for Qualitative Platelet Defect (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1AstragalusNutraceuticalPhase 343

Interventional clinical trials:

idNameStatusNCT IDPhase
1"One-step" Bone Marrow Mononuclear Cell Transplantation in Talar Osteochondral LesionsRecruitingNCT02005861Phase 3
2Platelet Function in Minimal Extracorporeal Circulation in CABGCompletedNCT01935245
3Thrombocytopathy in Gaucher Disease PatientsRecruitingNCT01344096
4The Genetics and Functional Basis of Inherited Platelet, White Blood Cell, Red Blood Cell, and Blood Clotting Disorders.RecruitingNCT00230165
5Cohort Study Comparing Short Daily Hemodialysis (HD) With Conventional HDActive, not recruitingNCT00182156
6Comparison of the Effects of Gelatine Versus Balanced Crystalloid Solution for Volume TherapyNot yet recruitingNCT02461329

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Genetic Tests for Qualitative Platelet Defect

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Anatomical Context for Qualitative Platelet Defect

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Animal Models for Qualitative Platelet Defect or affiliated genes

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MGI Mouse Phenotypes related to Qualitative Platelet Defect:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053977.2F2, F3, GP1BA, HLA-B, ITGA2B, SELP
2MP:00053767.2F2, F3, GP1BA, ITGA2B, SELP, VWF

Publications for Qualitative Platelet Defect

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Articles related to Qualitative Platelet Defect:

idTitleAuthorsYear
1
Qualitative platelet defect and thrombohaemorrhagic complications in a patient with polycythaemia vera. Case 10. (12923585)
2003
2
Oozing and bruising: von Willebrand disease and qualitative platelet defect. (6606134)
1983
3
Qualitative platelet defect in a case of heparin-induced thrombocytopenia. (6407097)
1983
4
A qualitative platelet defect in severe vitamin B 12 deficiency. Response, hyperresponse, and thrombosis after vitamin B 12 therapy. (4632789)
1973
5
The bleeding disorder of uraemia. A qualitative platelet defect. (4161020)
1966
6
A hemorrhagic diathesis due to a qualitative platelet defect. (12997529)
1952

Variations for Qualitative Platelet Defect

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Expression for genes affiliated with Qualitative Platelet Defect

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Search GEO for disease gene expression data for Qualitative Platelet Defect.

Pathways for genes affiliated with Qualitative Platelet Defect

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Pathways related to Qualitative Platelet Defect according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8GP1BA, VWF
29.8GP1BA, VWF
39.7ITGA2B, VWF
4
Show member pathways
9.4F2, F3, VWF
59.3GP1BA, ITGA2B, VWF
69.3F2, ITGA2B, VWF
79.0HLA-A, HLA-B
8
Show member pathways
9.0F2, F3, GP1BA, VWF
9
Show member pathways
8.9F2, GP1BA, ITGA2B, VWF
10
Show member pathways
8.8F3, ITGA2B, SELP, VWF
118.5HLA-A, HLA-B, SELP
12
Show member pathways
8.0F2, F3, GP1BA, ITGA2B, SELP, VWF

GO Terms for genes affiliated with Qualitative Platelet Defect

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Cellular components related to Qualitative Platelet Defect according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule membraneGO:003109210.1ITGA2B, SELP
2MHC class I protein complexGO:00426129.8HLA-A, HLA-B
3external side of plasma membraneGO:00098979.7ITGA2B, SELP, VWF
4extracellular matrixGO:00310129.7F2, F3, VWF
5integral component of lumenal side of endoplasmic reticulum membraneGO:00715569.7HLA-A, HLA-B
6ER to Golgi transport vesicle membraneGO:00125079.6HLA-A, HLA-B
7integral component of plasma membraneGO:00058878.0GP1BA, HLA-A, HLA-B, ITGA2B, SELP
8cell surfaceGO:00099867.6F3, GP1BA, HLA-A, HLA-B, ITGA2B
9extracellular exosomeGO:00700627.1F2, F3, GP1BA, HLA-A, HLA-B, ITGA2B
10plasma membraneGO:00058866.8F2, F3, GP1BA, HLA-A, HLA-B, ITGA2B

Biological processes related to Qualitative Platelet Defect according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1hemostasisGO:000759910.3GP1BA, VWF
2fibrinolysisGO:004273010.3F2, GP1BA
3regulation of blood coagulationGO:003019310.1F2, GP1BA
4positive regulation of leukocyte migrationGO:000268710.0ITGA2B, SELP
5blood coagulation, intrinsic pathwayGO:00075979.9F2, GP1BA, VWF
6response to woundingGO:00096119.9F2, F3, VWF
7antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independentGO:00024809.7HLA-A, HLA-B
8antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independentGO:00024869.7HLA-A, HLA-B
9positive regulation of T cell mediated cytotoxicityGO:00019169.7HLA-A, HLA-B
10detection of bacteriumGO:00160459.6HLA-A, HLA-B
11platelet degranulationGO:00025769.6ITGA2B, SELP, VWF
12protection from natural killer cell mediated cytotoxicityGO:00422709.6HLA-A, HLA-B
13cell adhesionGO:00071559.1GP1BA, ITGA2B, SELP, VWF
14cytokine-mediated signaling pathwayGO:00192219.0F3, HLA-A, HLA-B
15platelet activationGO:00301688.4F2, GP1BA, ITGA2B, SELP, VWF
16blood coagulationGO:00075967.7F2, F3, GP1BA, ITGA2B, SELP, VWF

Molecular functions related to Qualitative Platelet Defect according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1TAP bindingGO:00469779.2HLA-A, HLA-B
2peptide antigen bindingGO:00426059.0HLA-A, HLA-B

Sources for Qualitative Platelet Defect

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet