{"orpha":36355,"name":"Bleeding disorder due to P2Y12 defect","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Bleeding disorder due to ADP platelet receptor P2Y12 defect"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-36355/","orphanet_url":"https://www.orpha.net/en/disease/detail/36355","names":{"fr":{"name":"Troubles hémorragiques par anomalie du récepteur P2Y12","synonyms":["Troubles hémorragiques par anomalie du récepteur plaquettaire P2Y12 de l'ADP"],"definition":"L'anomalie du récepteur P2Y12 est un trouble hémorragique rare caractérisé par une diathèse hémorragique légère à modérée avec des ecchymoses survenant facilement, des saignements de muqueuses et une hémorragie post-opératoire excessive, dû à un défaut du récepteur des plaquettes P2Y12 qui conduit à une altération sélective de la réponse plaquettaire à l'adénosine diphosphate (ADP)."},"de":{"name":"Blutgerinnungsstörung durch P2Y12-Defekt","synonyms":["Blutgerinnungsstörung durch P2Y12-ADP-Rezeptor-Defekt"],"definition":"Der P2Y12-Defekt ist eine seltene Gerinnungsstörung. Symptome der leichten bis mittelschweren Blutungsneigung sind leicht auftretende Hauteinblutungen ('blaue Flecken'), Schleimhautblutungen und schwere postoperative Blutungen. Der ursächliche Defekt des Thrombozyten-Rezeptors P2Y12 stört selektiv die Reaktion der Thrombozyten auf Adenosin-Diphosphat (ADP)."},"es":{"name":"Trastorno de sangrado por un defecto de P2Y12","synonyms":["Trastorno de sangrado por un defecto del receptor plaquetario de ADP P2Y12"],"definition":"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)."},"it":{"name":"Deficit di P2Y12","synonyms":["Deficit del recettore piastrinico di ADP P2Y12"],"definition":"Il difetto di P2Y12 è una malattia emorragica rara caratterizzata da diatesi emorragica moderata associata a predisposizione alle ecchimosi, emorragie mucose e sanguinamento post-operatorio eccessivo, da difetto del recettore piastrinico P2Y12, che provoca un'anomalia selettiva della risposta delle piastrine all'adenosina difosfato (ADP)."},"nl":{"name":"Bloedingsstoornis door P2Y12-defect","synonyms":["Bloedingsstoornis door ADP-bloedplaatjesreceptor P2Y12-defect"],"definition":"P2Y12-defect is een zeldzame bloedingsstoornis gekenmerkt door milde tot matige bloedingsdiathese met gemakkelijk ontstaan van kneuzingen, mucosale bloedingen, en overmatige postoperatieve bloeding als gevolg van een defect van de P2Y12-receptor van bloedplaatjes, wat resulteert in de selectieve uitschakeling van de bloedplaatjesrespons op adenosinedifosfaat (ADP)."},"pt":{"name":"Doença hemorrágica por defeito de P2Y12","synonyms":["Doença hemorrágica por defeito do recetor plaquetário do ADP P2Y12"]},"pl":{"name":"Zaburzenie krzepnięcia wywołane uszkodzeniem P2Y12","synonyms":["Niedobór ADP receptora płytkowego P2Y12"]},"cs":{"name":"Defekt P2Y12","synonyms":["Defekt destičkového receptoru P2Y12 pro ADP"]},"uk":{"name":"Порушення кровотворення через дефект P2Y12","synonyms":["Порушення згортання крові через дефект P2Y12 рецептора тромбоцитів до АДФ"],"definition":"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."},"zh":{"name":"P2Y12缺乏所致出血","synonyms":["ADP血小板受体P2Y12缺陷所致出血性疾病"]},"tr":{"name":"P2Y12 defektine bağlı kanama bozukluğu","synonyms":["ADP trombosit reseptörü P2Y12 defektine bağlı kanama bozukluğu"]}},"xrefs":[{"source":"OMIM","code":"609821","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D69.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B62.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"121084770"},{"source":"MONDO","code":"0012354","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510945","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12478","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":275736,"name":"Rare hemorrhagic disorder due to a qualitative platelet defect","classifications":[156,194]}],"children":[],"genes":[{"symbol":"P2RY12","name":"purinergic receptor P2Y12","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11196645[PMID]_12578987[PMID]","hgnc":"18124","ensembl":"ENSG00000169313","omim":"600515","loci":["3q25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"15852220[PMID]_19229056[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}