MCID: QLT001
MIFTS: 19

Qualitative Platelet Defect malady

Immune diseases, Blood diseases categories

Summaries for Qualitative Platelet Defect

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MalaCards: Qualitative Platelet Defect, also known as qualitative platelet deficiency nos, is related to glanzmann's thrombasthenia and thrombocytopenia. An important gene associated with Qualitative Platelet Defect is VWF (von Willebrand factor).

Aliases & Classifications for Qualitative Platelet Defect

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8Disease Ontology, 44Novoseek, 60UMLS, 56SNOMED-CT, 27ICD9CM, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Immune diseases, Blood diseases


Aliases & Descriptions:

qualitative platelet defect 8
qualitative platelet deficiency nos 8
qualitative platelet deficiency 60
qualitative platelet defects 44


External Ids:

Disease Ontology8 DOID:11125
ICD9CM27 287.1
ICD1025 D69.1

Related Diseases for Qualitative Platelet Defect

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

idRelated DiseaseScoreTop Affiliating Genes
1glanzmann's thrombasthenia10.1
2thrombocytopenia10.1
3sitosterolemia10.1
4quebec platelet disorder10.1
5gray platelet syndrome10.1
6white platelet syndrome10.1
7bernard-soulier syndrome, type a210.1
8isolated delta-storage pool disease10.1
9medich giant platelet syndrome10.1
10alpha delta granule deficiency10.1

Graphical network of diseases related to Qualitative Platelet Defect:



Diseases related to qualitative platelet defect

Clinical Features for Qualitative Platelet Defect

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Drugs & Therapeutics for Qualitative Platelet Defect

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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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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Publications for Qualitative Platelet Defect

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50PubMed
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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
An autosomal dominant, qualitative platelet disorder associated with multimerin deficiency, abnormalities in platelet factor V, thrombospondin, von Willebrand factor, and fibrinogen and an epinephrine aggregation defect. (8652809)
1996
3
Oozing and bruising: von Willebrand disease and qualitative platelet defect. (6606134)
1983
4
Qualitative platelet defect in a case of heparin-induced thrombocytopenia. (6407097)
1983
5
Studies on a new variant of the Hermansky-Pudlak syndrome: qualitative, ultrastructural, and functional abnormalities of the platelet-dense bodies associated with a phospholipase A defect. (717398)
1978
6
A qualitative platelet defect in severe vitamin B 12 deficiency. Response, hyperresponse, and thrombosis after vitamin B 12 therapy. (4632789)
1973
7
The bleeding disorder of uraemia. A qualitative platelet defect. (4161020)
1966
8
A hemorrhagic diathesis due to a qualitative platelet defect. (12997529)
1952

Genetic Variations for Qualitative Platelet Defect

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Expression for genes affiliated with Qualitative Platelet Defect

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

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Pathways for genes affiliated with Qualitative Platelet Defect

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Compounds for genes affiliated with Qualitative Platelet Defect

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GO Terms for genes affiliated with Qualitative Platelet Defect

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Products for genes affiliated with Qualitative Platelet Defect

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Qualitative Platelet Defect

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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