{"Name":"Quebec platelet disorder","DiseaseID__c":"GARD:0008345","id":8345,"encodedName":"quebec-platelet-disorder","IsDeleted":false,"Disease_Name_Full__c":"Quebec platelet disorder","Xref_IDs__c":"C1866423; C536260; DOID:0111050; MEDGEN:356528; MONDO:0011136; OMIM:601709; ORPHA:220436","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011136","Disease_Description__c":"A rare platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.","GARD_Name__c":"Quebec platelet disorder","GARD_Synonym__c":"bdplt5; bleeding disorder, platelet-type, 5; factor v quebec; platelet-type bleeding disorder 5; qpd","Curated_Disease_Description_Source__c":"MONDO:0011136","Curated_Disease_Description__c":"A rare platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:220436","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011136","ORPHANET_ID__c":"ORPHA:220436","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad plaquetaria de quebec","Spanish_Description_Source__c":"ORPHA:220436","Spanish_Description__c":"Es un trastorno poco frecuente de los gránulos plaquetarios caracterizado por sangrado de moderado a grave después de un traumatismo, cirugía o intervención obstétrica, equimosis frecuentes, sangrado mucocutáneo y sangrado muscular y articular.","Spanish_Disease_Name__c":"enfermedad plaquetaria de quebec","Spanish_GARD_Synonym__c":"factor v quebec","Category_Linearization__c":"ORPHA:97992","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.","Curated_Disease_Description_Source__c":"MONDO:0011136","GARD_Synonym__c":"bdplt5; bleeding disorder, platelet-type, 5; factor v quebec; platelet-type bleeding disorder 5; qpd","Name":"Quebec platelet disorder","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:220436"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1866423"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008345","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111050","Source__c":"MONDO:0011136","Xref__c":"DOID:0111050"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1866423","Source__c":"C1866423","Xref__c":"C1866423"},{"URL__c":"https://www.omim.org/entry/601709","Source__c":"C1866423; MONDO:0011136; ORPHA:220436","Xref__c":"OMIM:601709"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536260","Source__c":"MONDO:0011136","Xref__c":"C536260"},{"URL__c":"https://www.orpha.net/en/disease/detail/220436","Source__c":"C1866423; MONDO:0011136; ORPHA:220436","Xref__c":"ORPHA:220436"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=356528","Source__c":"C1866423","Xref__c":"MEDGEN:356528"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011136","Source__c":"GARD:0008345","Xref__c":"MONDO:0011136"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PLAU","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:601709","Feature__r":{"HPO_Description__c":"Hemorrhage occurring within a joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005261","HPO_Synonym__c":"Bleeding within a joint; Hemarthroses; Hemarthrosis; Joint hemorrhage; Spontaneous joint hemorrhage","HPO_Name__c":"Joint hemorrhage","Feature_System__c":"Musculoskeletal System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601709","Feature__r":{"HPO_Description__c":"Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000421","HPO_Synonym__c":"Bloody nose; Frequent nosebleeds; Nasal hemorrhage; Nose bleed; Nose bleeding; Nosebleed","HPO_Name__c":"Epistaxis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601709","Feature__r":{"HPO_Description__c":"Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008148","HPO_Name__c":"Impaired epinephrine-induced platelet aggregation","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601709","Feature__r":{"HPO_Description__c":"Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000132","HPO_Synonym__c":"Abnormally heavy bleeding during menstruation; Abnormally heavy periods; Hypermenorrhea","HPO_Name__c":"Menorrhagia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601709","Feature__r":{"HPO_Description__c":"An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000978","HPO_Synonym__c":"Bruisability; Bruise easily; Bruising susceptibility; Easy bruisability; Easy bruising","HPO_Name__c":"Bruising susceptibility","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601709","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology"]},"synonyms":["bdplt5"," bleeding disorder, platelet-type, 5"," factor v quebec"," platelet-type bleeding disorder 5"," qpd"]}