{"Name":"Platelet-type bleeding disorder 11","DiseaseID__c":"GARD:0013293","id":13293,"encodedName":"platelet-type-bleeding-disorder-11","IsDeleted":false,"Disease_Name_Full__c":"Platelet-type bleeding disorder 11","Xref_IDs__c":"765977002; C3280120; DOID:0111057; MEDGEN:481750; MONDO:0013623; OMIM:614201; ORPHA:98885","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0013623","Disease_Description__c":"Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene.","GARD_Name__c":"Platelet-type bleeding disorder 11","GARD_Synonym__c":"bdplt11; bleeding diathesis due to glycoprotein vi deficiency; bleeding disorder due to glycoprotein vi deficiency; bleeding disorder platelet-type 11; glycoprotein vi deficiency; gp vi deficiency; gp6 inherited bleeding disorder, platelet-type; inherited bleeding disorder, platelet-type caused by mutation in gp6","Curated_Disease_Description_Source__c":"GARD:0013293","Curated_Disease_Description__c":"Glycoprotein VI deficiency is a bleeding disorder associated with a decreased ability to form blood clots. Normally, blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss. Because people with glycoprotein VI deficiency cannot form blood clots normally, they have an increased risk of nosebleeds (epistaxis) and may experience abnormally heavy or prolonged bleeding following minor injury or surgery. In some affected individuals, spontaneous bleeding under the skin causes areas of discoloration (ecchymosis). Women with glycoprotein VI deficiency often have heavy or prolonged menstrual periods (menorrhagia).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:98885","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013623","ORPHANET_ID__c":"ORPHA:98885","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Diátesis hemorrágica por deficiencia de glicoproteína vi","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"diátesis hemorrágica por deficiencia de glicoproteína vi","Spanish_GARD_Synonym__c":null,"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":"Glycoprotein VI deficiency is a bleeding disorder associated with a decreased ability to form blood clots. Normally, blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss. Because people with glycoprotein VI deficiency cannot form blood clots normally, they have an increased risk of nosebleeds (epistaxis) and may experience abnormally heavy or prolonged bleeding following minor injury or surgery. In some affected individuals, spontaneous bleeding under the skin causes areas of discoloration (ecchymosis). Women with glycoprotein VI deficiency often have heavy or prolonged menstrual periods (menorrhagia).","Curated_Disease_Description_Source__c":"GARD:0013293","GARD_Synonym__c":"bdplt11; bleeding diathesis due to glycoprotein vi deficiency; bleeding disorder due to glycoprotein vi deficiency; bleeding disorder platelet-type 11; glycoprotein vi deficiency; gp vi deficiency; gp6 inherited bleeding disorder, platelet-type; inherited bleeding disorder, platelet-type caused by mutation in gp6","Name":"Platelet-type bleeding disorder 11","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Bleeding Disorders Foundation","Website__c":"https://www.bleeding.org/"}],"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"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3280120"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0013293","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=765977002","Source__c":"C3280120; MONDO:0013623","Xref__c":"765977002"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3280120","Source__c":"C3280120","Xref__c":"C3280120"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111057","Source__c":"MONDO:0013623","Xref__c":"DOID:0111057"},{"URL__c":"https://www.orpha.net/en/disease/detail/98885","Source__c":"C3280120; MONDO:0013623; ORPHA:98885","Xref__c":"ORPHA:98885"},{"URL__c":"https://www.omim.org/entry/614201","Source__c":"C3280120; MONDO:0013623; ORPHA:98885","Xref__c":"OMIM:614201"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=481750","Source__c":"C3280120","Xref__c":"MEDGEN:481750"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013623","Source__c":"GARD:0013293","Xref__c":"MONDO:0013623"},{"URL__c":"https://medlineplus.gov/genetics/condition/glycoprotein-vi-deficiency","Source__c":"GARD:0013293","Xref__c":"https://medlineplus.gov/genetics/condition/glycoprotein-vi-deficiency"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GP6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gp6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614201","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:614201","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:614201","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003010","HPO_Synonym__c":"Increased bleeding time; Prolonged bleeding time","HPO_Name__c":"Prolonged bleeding time","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614201","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A purpuric lesion that is larger than 1 cm in diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031364","HPO_Synonym__c":"Ecchymoses","HPO_Name__c":"Ecchymosis","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614201","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008320","HPO_Name__c":"Impaired collagen-induced platelet aggregation","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614201","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology"]},"synonyms":["bdplt11"," bleeding diathesis due to glycoprotein vi deficiency"," bleeding disorder due to glycoprotein vi deficiency"," bleeding disorder platelet-type 11"," glycoprotein vi deficiency"," gp vi deficiency"," gp6 inherited bleeding disorder, platelet-type"," inherited bleeding disorder, platelet-type caused by mutation in gp6"]}