About: Quebec platelet disorder

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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

Attributes	Values
rdf:type	Item
description	حالة طبية (ar) 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 (en)
exact match	wds:Q7269853-7B4804F9-DF9A-4C55-989A-B37464957390 wds:Q7269853-806CC7EF-BE6A-4F17-A146-5D78FF6614C9 wds:Q7269853-986F5C0D-2A41-441A-B10B-FB1168FB6658
exact match	http://purl.obolibrary.org/obo/DOID_0111050 http://identifiers.org/doid/DOID:0111050 http://www.orpha.net/ORDO/Orphanet_220436
Mondo ID	wds:Q7269853-22A3114B-63F5-4E26-A2D0-C992B2FD4BC1
Disease Ontology ID	wds:Q7269853-9D6A1D4A-1462-4A4A-A661-181DB73E6A9A
symptoms and signs	wds:Q7269853-E7DE2495-51BA-4737-9D62-356603E4B2C9
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0011136
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0111050
Mondo ID	MONDO_0011136
Disease Ontology ID	DOID:0111050
symptoms and signs	bleeding
rdfs:label	Quebec platelet disorder (en) syndrome plaquettaire du Québec (fr) اضطراب الصفائح الدموية (ar)
skos:prefLabel	Quebec platelet disorder (en) syndrome plaquettaire du Québec (fr) اضطراب الصفائح الدموية (ar)
name	Quebec platelet disorder (en) syndrome plaquettaire du Québec (fr) اضطراب الصفائح الدموية (ar)
instance of	wds:Q7269853-CBDEE101-C765-4405-BF75-EF7F582AF728 wds:Q7269853-EDBA7C0C-D932-4D82-B84B-A88DB47747E6
instance of	class of disease rare disease
subclass of	wds:Q7269853-054798E0-F681-49FB-8479-D01736A4539A wds:Q7269853-0FD7F984-2047-4A16-8FBC-AF9F912D686D wds:Q7269853-6DC70FC9-2D44-42F0-B583-90E049DA7702
subclass of	blood platelet disease inherited blood coagulation disease alpha granule disease
UniProt disease ID	wds:Q7269853-0475e2ed-4ec8-6ae9-7894-e58d9e407bea
Orphanet ID	wds:Q7269853-21F4E709-3EC9-4E60-8713-F2B9CED2009D
genetic association	wds:Q7269853-6A136465-E53D-4D07-9D78-4C911536D684
ICD-10-CM	wds:Q7269853-8F4DDECB-27D2-4DA0-96A2-D422E881E041
GARD rare disease ID	wds:Q7269853-5AA78349-8654-4B57-A458-0FD3C0FD76E3
OMIM ID	wds:Q7269853-D7FD9CC2-C74A-4020-B07A-4DFF09DAC1D4
UniProt disease ID	DI-03256
Orphanet ID	220436
genetic association	wd:Q417169
ICD-10-CM	D69.1
GARD rare disease ID	8345
OMIM ID	601709
skos:altLabel	QPD (en) BDPLT5 (en) Bleeding Disorder, Platelet-Type, 5 (en) Factor 5 Quebec (en) QUEBEC PLATELET DISORDER (en) QUEBEC PLATELET DISORDER; QPD (en) factor V Quebec (en) platelet-type bleeding disorder 5 (en)
UMLS CUI	wds:Q7269853-8BCC2712-1792-4C7F-A6CB-720935F09B87
MeSH descriptor ID	wds:Q7269853-6EA75304-C6EA-451D-B429-189C5BEFE256 wds:Q7269853-DA9E6BD7-6898-4715-980F-112F64AA2ECE
on focus list of Wikimedia project	wds:Q7269853-691AD136-9947-4F35-8B49-C3180B5EA0CA
Microsoft Academic ID	wds:Q7269853-4ADEA88D-CEEC-4C9F-9DBD-9CE8886EBEBC
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C536260
Microsoft Academic ID	https://makg.org/entity/2778856701
UMLS CUI	C1866423
MeSH descriptor ID	C536260
on focus list of Wikimedia project	WikiProject Medicine
Microsoft Academic ID	2778856701
is owl:sameAs of	Quebec platelet disorder
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q7269853 Quebec platelet disorder https://fr.wikipedia.org/wiki/Syndrome_plaquettaire_du_Qu%C3%A9bec https://ar.wikipedia.org/wiki/%D8%A7%D8%B6%D8%B7%D8%B1%D8%A7%D8%A8_%D8%A7%D9%84%D8%B5%D9%81%D8%A7%D8%A6%D8%AD_%D8%A7%D9%84%D8%AF%D9%85%D9%88%D9%8A%D8%A9
is main subject of	Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene. The duplication mutation of Quebec platelet disorder dysregulates PLAU, but not C10orf55, selectively increasing production of normal PLAU transcripts by megakaryocytes but not granulocytes Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes Increased expression of urokinase plasminogen activator in Quebec platelet disorder is linked to megakaryocyte differentiation Platelets from patients with the Quebec platelet disorder contain and secrete abnormal amounts of urokinase-type plasminogen activator Insights into abnormal hemostasis in the Quebec platelet disorder from analyses of clot lysis. Studies of a second family with the Quebec platelet disorder: evidence that the degradation of the alpha-granule membrane and its soluble contents are not secondary to a defect in targeting proteins to alpha-granules Fibrinogen degradation products in patients with the Quebec platelet disorder Intracellular activation of the fibrinolytic cascade in the Quebec Platelet Disorder Evaluation of urokinase plasminogen activator in urine from individuals with Quebec platelet disorder Simultaneous measurement of adenosine triphosphate release and aggregation potentiates human platelet aggregation responses for some subjects, including persons with Quebec platelet disorder Quebec platelet disorder: features, pathogenesis and treatment Quebec platelet disorder: update on pathogenesis, diagnosis, and treatment Erratum: Quebec Platelet Disorder: Update on Pathogenesis, Diagnosis, and Treatment Breaking barriers: Quebec platelet disorder Management of Quebec Platelet Disorder for Cervical Facet Injections in the Outpatient Setting: A Case Report Thrombin generation abnormalities in Quebec platelet disorder Improved platelet counts during prolonged tranexamic therapy for Quebec platelet disorder implicate the underlying fibrinolytic defect as the cause of lower platelet counts Enhancer-gene rewiring in the pathogenesis of Quebec Platelet Disorder A case of Quebec platelet disorder with interstitial pneumonia
is main subject of	wds:Q36310829-806B5E74-D94E-4B55-AD4B-08E050D7EC9D wds:Q91039308-CD9F4EA8-4759-4B62-B9DE-6C456B037301 wds:Q104059876-A6301A0E-F466-4DB8-A9CB-D77CE8B1F56C wds:Q37085387-8E7B9654-5620-452F-B14E-B51D043DACC4 wds:Q90735028-62E3B15A-A0C1-454B-8CB0-A68DB5A5D840 wds:Q43660435-8700476E-40F0-4118-9FC2-267C3DC63BBD wds:Q43179394-A54CFC3F-80B2-4CAA-8314-936D0B7A57F2 wds:Q83206938-261F7280-775A-42C6-9253-A90460CB4761

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