{"Name":"Platelet-type bleeding disorder 8","DiseaseID__c":"GARD:0012478","id":12478,"encodedName":"platelet-type-bleeding-disorder-8","IsDeleted":false,"Disease_Name_Full__c":"Platelet-type bleeding disorder 8","Xref_IDs__c":"725291001; C1853278; C565220; DOID:0060692; MEDGEN:344008; MONDO:0012354; OMIM:609821; ORPHA:36355","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012354","Disease_Description__c":"P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.","GARD_Name__c":"Platelet-type bleeding disorder 8","GARD_Synonym__c":"adp platelet receptor p2y12 defect; bdplt8; bleeding disorder due to adp platelet receptor p2y12 defect; bleeding disorder due to p2rx1 defect, somatic; bleeding disorder due to p2ry12 defect; bleeding disorder due to p2y12 defect; p2y12 defect","Curated_Disease_Description_Source__c":"MONDO:0012354","Curated_Disease_Description__c":"P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:36355","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012354","ORPHANET_ID__c":"ORPHA:36355","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trastorno de sangrado por un defecto de p2y12","Spanish_Description_Source__c":"ORPHA:36355","Spanish_Description__c":"La anomalía de P2Y12 es una enfermedad hemorrágica rara caracterizada por la diátesis hemorrágica de leve a moderada con facilidad de producir hematomas, sangrado de las mucosas y hemorragia postoperatoria excesiva a causa de un defecto en el receptor P2Y12 que provoca una deficiencia selectiva de respuesta de las plaquetas a la adenosín difosfato (ADP).","Spanish_Disease_Name__c":"trastorno de sangrado por un defecto de p2y12","Spanish_GARD_Synonym__c":"trastorno de sangrado por un defecto del receptor plaquetario de adp p2y12","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":"P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.","Curated_Disease_Description_Source__c":"MONDO:0012354","GARD_Synonym__c":"adp platelet receptor p2y12 defect; bdplt8; bleeding disorder due to adp platelet receptor p2y12 defect; bleeding disorder due to p2rx1 defect, somatic; bleeding disorder due to p2ry12 defect; bleeding disorder due to p2y12 defect; p2y12 defect","Name":"Platelet-type bleeding disorder 8","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Platelet Disorder Support Association","Website__c":"https://www.pdsa.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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:36355"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1853278"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012478","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/609821","Source__c":"C1853278; MONDO:0012354; ORPHA:36355","Xref__c":"OMIM:609821"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1853278","Source__c":"C1853278","Xref__c":"C1853278"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060692","Source__c":"MONDO:0012354","Xref__c":"DOID:0060692"},{"URL__c":"https://www.orpha.net/en/disease/detail/36355","Source__c":"C1853278; MONDO:0012354","Xref__c":"ORPHA:36355"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=344008","Source__c":"C1853278","Xref__c":"MEDGEN:344008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565220","Source__c":"MONDO:0012354","Xref__c":"C565220"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725291001","Source__c":"MONDO:0012354","Xref__c":"725291001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012354","Source__c":"GARD:0012478","Xref__c":"MONDO:0012354"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"P2RY12","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:609821","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001934","HPO_Synonym__c":"Excessive bleeding after minor trauma; Frequent bleeding with trauma; Prolonged bleeding after minor trauma","HPO_Name__c":"Persistent bleeding after trauma","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609821","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:609821","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:609821","Feature__r":{"HPO_Description__c":"Bleeding that persists longer than the normal time following a surgical procedure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004846","HPO_Synonym__c":"Excessive bleeding during surgery; Prolonged bleeding after surgery; Protracted bleeding after surgery","HPO_Name__c":"Prolonged bleeding after surgery","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609821","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:609821","Feature__r":{"HPO_Description__c":"An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001892","HPO_Synonym__c":"Bleeding diathesis; Bleeding tendency; Hemorrhagic diathesis","HPO_Name__c":"Abnormal bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609821","Feature__r":{"HPO_Description__c":"Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004866","HPO_Name__c":"Impaired ADP-induced platelet aggregation","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["adp platelet receptor p2y12 defect"," bdplt8"," bleeding disorder due to adp platelet receptor p2y12 defect"," bleeding disorder due to p2rx1 defect, somatic"," bleeding disorder due to p2ry12 defect"," bleeding disorder due to p2y12 defect"," p2y12 defect"]}