MCID: QLT001
MIFTS: 32

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 68
Qualitative Platelet Defects 50

Classifications:



External Ids:

Disease Ontology11 DOID:11125
ICD1030 D69.1
ICD9CM32 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 VWF (Von Willebrand Factor), 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 101)
idRelated DiseaseScoreTop Affiliating Genes
1bernard-soulier syndrome, type c30.1F2, VWF
2gray platelet syndrome29.9CD36, SELP, VWF
3chronic diarrhea due to guanylate cyclase 2c overactivity10.4F3, VWF
4central epithelioid sarcoma10.3F2, VWF
5tympanosclerosis10.3F2, VWF
6otopalatodigital syndrome, type i10.3F3, VWF
7ceroid lipofuscinosis, neuronal, 1110.3CD36, F3
8glanzmann thrombasthenia10.3
9familial glomangioma10.3F2, F3
10ariboflavinosis10.3F2, F3
11myiasis10.3F2, F3
12cavernous hemangioma of face10.3F2, F3
13psychologic dyspareunia10.3F2, VWF
14marek disease10.3F2, F3
15ovarian gonadoblastoma10.3F2, F3
16cerebral angioma10.3F2, F3
17classic congenital lipoid adrenal hyperplasia due to star deficency10.3F2, F3
18brill-zinsser disease10.2F2, F3
19epididymo-orchitis10.2F2, F3
20chorea gravidarum10.2F2, F3
21central nervous system germinoma10.2F2, F3
22congenital nystagmus10.2F2, F3
23dmd-related dilated cardiomyopathy10.2F2, F3
24lateral cystocele10.2F2, F3
25peroneal neuropathy10.2F2, F3
26transient cerebral ischemia10.2F2, F3
27splenic infarction10.2F2, F3
28lymphatic system cancer10.2F2, F3
29facioscapulohumeral muscular dystrophy 110.2F2, F3
30cercarial dermatitis10.2F2, F3
31inherited blood coagulation disease10.2F2, F3
32van maldergem syndrome 210.2F2, VWF
33angular blepharoconjunctivitis10.2F2, F3
34idiopathic central precocious puberty10.2F2, F3
35lingual-facial-buccal dyskinesia10.2F2, F3
36artery disease10.2F2, F3
37factor x deficiency10.1F2, F3
38pseudohermaphroditism10.1F2, F3
39sitosterolemia10.1
40quebec platelet disorder10.1
41bleeding disorder, platelet-type, 1810.1
42white platelet syndrome10.1
43isolated delta-storage pool disease10.1
44medich giant platelet syndrome10.1
45alpha delta granule deficiency10.1
46dermatitis10.1F2, F3
47ovarian cystic teratoma10.1F2, F3
48type 2n von willebrand disease10.1SELP, VWF
49lip carcinoma in situ10.1F2, F3
50renal fibrosis10.1F2, VWF

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 & Phenotypes for Qualitative Platelet Defect

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MGI Mouse Phenotypes related to Qualitative Platelet Defect according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053977.4CD36, F2, F3, SELP, VWF, WDTC1

Drugs & Therapeutics for Qualitative Platelet Defect

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

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1MitogensPhase 31526
2AstragalusNutraceuticalPhase 352
3Polygeline12
4Plasma Substitutes233
5Blood Substitutes246
6Pharmaceutical Solutions7793

Interventional clinical trials:

idNameStatusNCT IDPhase
1"One-step" Bone Marrow Mononuclear Cell Transplantation in Talar Osteochondral LesionsRecruitingNCT02005861Phase 3
2Cohort Study Comparing Short Daily Hemodialysis (HD) With Conventional HDUnknown statusNCT00182156
3Platelet Function in Minimal Extracorporeal Circulation in CABGCompletedNCT01935245
4Thrombocytopathy in Gaucher Disease PatientsRecruitingNCT01344096
5The Genetics and Functional Basis of Inherited Platelet, White Blood Cell, Red Blood Cell, and Blood Clotting Disorders.RecruitingNCT00230165
6Comparison of the Effects of Gelatine Versus Balanced Crystalloid Solution for Volume TherapyNot yet recruitingNCT02461329

Search NIH Clinical Center for Qualitative Platelet Defect

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:

36
Bone, Bone marrow

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
1extracellular matrixGO:00310129.4F2, F3, VWF
2platelet alpha granule membraneGO:00310929.3CD36, SELP

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1blood coagulation, intrinsic pathwayGO:000759710.2F2, VWF
2antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependentGO:000247910.1CD36, HLA-A
3positive regulation of blood coagulationGO:003019410.1CD36, F2
4positive regulation of reactive oxygen species metabolic processGO:20003799.6CD36, F2
5positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.5F2, SELP
6platelet degranulationGO:00025769.5CD36, SELP, VWF
7blood coagulationGO:00075969.4CD36, F2, F3, VWF

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

idNameGO IDScoreTop Affiliating Genes
1thrombospondin receptor activityGO:00700539.6CD36, F2
2glycoprotein bindingGO:00019489.4SELP, VWF

Sources for Qualitative Platelet Defect

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet