Details of Disease

General Information of Disease (ID: DIS2BK72)

Disease Name Quebec platelet disorder
Synonyms QPD; factor 5 Quebec; bleeding disorder, platelet-type, 5; Quebec platelet disorder; platelet-type bleeding disorder 5; BDPLT5; factor V Quebec
Definition
Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.
Disease Hierarchy
DISIUNXT: Inherited bleeding disorder, platelet-type
DIS76YK5: Alpha granule disease
DIS2BK72: Quebec platelet disorder
Disease Identifiers
MONDO ID
MONDO_0011136
MESH ID
C536260
UMLS CUI
C1866423
OMIM ID
601709
MedGen ID
356528
Orphanet ID
220436

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PLAU TTGY7WI Moderate Autosomal dominant [1]
PLAU TTGY7WI Strong Biomarker [2]
PLG TTP86E2 Strong Genetic Variation [3]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PLAU OTX0QGKK Moderate Autosomal dominant [1]
PRAP1 OT48QD82 Strong Altered Expression [4]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2 Inherited disorders of the fibrinolytic pathway.Transfus Apher Sci. 2019 Oct;58(5):572-577. doi: 10.1016/j.transci.2019.08.007. Epub 2019 Aug 8.
3 Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene. Blood. 2010 Feb 11;115(6):1264-6. doi: 10.1182/blood-2009-07-233965. Epub 2009 Dec 9.
4 Increased expression of urokinase plasminogen activator in Quebec platelet disorder is linked to megakaryocyte differentiation.Blood. 2009 Feb 12;113(7):1535-42. doi: 10.1182/blood-2008-08-172338. Epub 2008 Nov 24.