MCID: QLT001
MIFTS: 30

Qualitative Platelet Defect malady

Categories: Immune diseases, Blood diseases

Aliases & Classifications for Qualitative Platelet Defect

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Aliases & Descriptions for Qualitative Platelet Defect:

Name: Qualitative Platelet Defect 11 13
Qualitative Platelet Deficiency Nos 11
 
Qualitative Platelet Deficiency 66
Qualitative Platelet Defects 48

Classifications:



External Ids:

Disease Ontology11 DOID:11125
ICD1028 D69.1
ICD9CM30 287.1

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 bernard-soulier syndrome, type c and gray platelet syndrome. An important gene associated with Qualitative Platelet Defect is CD36 (CD36 Molecule), and among its related pathways are Malaria and Platelet Aggregation Inhibitor Pathway, Pharmacodynamics. Affiliated tissues include bone and bone marrow, and related mouse phenotype hematopoietic system.

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 105)
idRelated DiseaseScoreTop Affiliating Genes
1bernard-soulier syndrome, type c29.8F2, VWF
2gray platelet syndrome29.7CD36, SELP, VWF
3familial glomangioma10.4F2, F3
4ariboflavinosis10.4F2, F3
5myiasis10.4F2, F3
6cavernous hemangioma of face10.4F2, F3
7marek disease10.4F2, F3
8ovarian gonadoblastoma10.4F2, F3
9cerebral angioma10.4F2, F3
10classic congenital lipoid adrenal hyperplasia due to star deficency10.4F2, F3
11brill-zinsser disease10.4F2, F3
12ceroid lipofuscinosis, neuronal, 1110.4CD36, F3
13epididymo-orchitis10.4F2, F3
14chorea gravidarum10.4F2, F3
15central nervous system germinoma10.4F2, F3
16congenital nystagmus10.4F2, F3
17dmd-related dilated cardiomyopathy10.4F2, F3
18lateral cystocele10.4F2, F3
19peroneal neuropathy10.4F2, F3
20glanzmann thrombasthenia10.4
21transient cerebral ischemia10.4F2, F3
22splenic infarction10.4F2, F3
23lymphatic system cancer10.4F2, F3
24facioscapulohumeral muscular dystrophy 110.4F2, F3
25cercarial dermatitis10.4F2, F3
26inherited blood coagulation disease10.4F2, F3
27angular blepharoconjunctivitis10.3F2, F3
28idiopathic central precocious puberty10.3F2, F3
29lingual-facial-buccal dyskinesia10.3F2, F3
30artery disease10.3F2, F3
31factor x deficiency10.3F2, F3
32pseudohermaphroditism10.3F2, F3
33dermatitis10.3F2, F3
34ovarian cystic teratoma10.3F2, F3
35lip carcinoma in situ10.2F2, F3
36sitosterolemia10.2
37quebec platelet disorder10.2
38bleeding disorder, platelet-type, 1810.2
39white platelet syndrome10.2
40isolated delta-storage pool disease10.2
41medich giant platelet syndrome10.2
42alpha delta granule deficiency10.2
43glossopharyngeal nerve disease10.2F3, SELP
44scapuloperoneal myopathy, x-linked dominant10.2F2, F3
45cervical mullerian papilloma10.2F2, F3
46hepatic coma10.2F2, F3
47facial hemiatrophy10.2F2, SELP
48histoplasmosis10.2F2, SELP
49apocrine adenoma10.2F2, F3
50selective iga deficiency disease10.1F2, SELP

Comorbidity relations with Qualitative Platelet Defect via Phenotypic Disease Network (PDN):


Deficiency AnemiaActive Peptic Ulcer Disease
Acute CystitisHeart Disease
Ischemic Heart Disease

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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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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MalaCards organs/tissues related to Qualitative Platelet Defect:

34
Bone, Bone marrow

Animal Models for Qualitative Platelet Defect or affiliated genes

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MGI Mouse Phenotypes related to Qualitative Platelet Defect:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053977.3CD36, F2, F3, SELP, VWF, WDTC1

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
Qualitative platelet defect in a case of heparin-induced thrombocytopenia. (6407097)
1983
3
Oozing and bruising: von Willebrand disease and qualitative platelet defect. (6606134)
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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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:00310929.7CD36, SELP
2extracellular matrixGO:00310128.8F2, F3, VWF

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of reactive oxygen species metabolic processGO:200037910.0CD36, F2
2antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependentGO:00024799.9CD36, HLA-A
3positive regulation of blood coagulationGO:00301949.8CD36, F2
4blood coagulation, intrinsic pathwayGO:00075979.6F2, VWF
5positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.5F2, SELP
6platelet degranulationGO:00025768.9CD36, SELP, VWF
7blood coagulationGO:00075968.4CD36, F2, F3, VWF

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

idNameGO IDScoreTop Affiliating Genes
1thrombospondin receptor activityGO:00700539.9CD36, F2
2glycoprotein bindingGO:00019489.0SELP, VWF

Sources for Qualitative Platelet Defect

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet