{"orpha":73271,"name":"Bleeding diathesis due to a collagen receptor defect","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic coagulation disorder characterized by a mild to moderate bleeding tendency due to impaired platelet activation and aggregation in response to collagen, or impaired platelet-vessel wall interaction, resulting from a collagen receptor defect. Patients manifest with ecchymoses, epistaxis, menorrhagia, and/or post-traumatic and post-surgery bleeding complications. Laboratory analysis reveals prolonged bleeding time and, occasionally, mild thrombocytopenia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-73271/","orphanet_url":"https://www.orpha.net/en/disease/detail/73271","names":{"fr":{"name":"Troubles hémorragiques par déficit en récepteur du collagène","definition":"Coagulopathie génétique rare caractérisée par une tendance aux hémorragies légères à modérées due à un défaut d'activation et d'agrégation des plaquettes en réponse au collagène ou à une altération de l'interaction entre la paroi du vaisseau et les plaquettes en raison d'un défaut des récepteurs du collagène. Les patients présentent des ecchymoses, des épistaxis, des ménorragies et/ou des complications hémorragiques post-traumatiques et post-chirurgicales. Les examens biologiques révèlent un temps de saignement allongé et, parfois, une légère thrombocytopénie."},"de":{"name":"Hämorrhagische Diathese durch Kollagen-Rezeptor-Mangel"},"es":{"name":"Diátesis hemorrágica por un defecto del receptor de colágeno","definition":"Es un trastorno genético de la coagulación poco frecuente, que se caracteriza por una tendencia al sangrado de leve a moderado, debida a una activación plaquetaria y agregación defectuosas en respuesta al colágeno, o a una interacción alterada entre la pared del vaso y las plaquetas como resultado de un defecto del receptor de colágeno. Los afectados manifiestan equimosis, epistaxis, menorragia y/o complicaciones hemorrágicas postraumáticas y postoperatorias. Las pruebas de laboratorio revelan un tiempo de sangrado prolongado y, ocasionalmente, trombocitopenia leve."},"it":{"name":"Diatesi emorragica da deficit dei recettori del collagene","definition":"La diatesi emorragica da deficit dei recettori del collagene è un difetto genetico raro della coagulazione, caratterizzato da tendenza lieve-moderata alle emorragie, causata dalla compromissione dell'attivazione e dell'aggregazione delle piastrine in risposta al collagene, oppure da un deficit dell'interazione piastrine-vasi, secondari a un difetto dei recettori del collagene. I pazienti presentano ecchimosi, epistassi, menorragia e/o complicanze emorragiche post-traumatiche e post-chirurgiche. Gli esami di laboratorio evidenziano un allungamento del tempo di sanguinamento e, occasionalmente, lieve trombocitopenia."},"nl":{"name":"Bloedingsdiathese als gevolg van een collageenreceptordefect","definition":"Bloedingsdiathese als gevolg van een collageenreceptordefect is een zeldzame, genetische coagulatiestoornis die gekarakteriseerd wordt door milde tot matige neiging tot bloeding als gevolg van een verstoorde activatie en aggregatie van bloedplaatjes als reactie op collageen of een verstoorde interactie tussen bloedplaatjes en bloedvatwanden, veroorzaakt door een defect van de collageenreceptor. Patiënten vertonen ecchymoses, epistaxis, menorragie, en/of bloedingscomplicaties na trauma of chirurgie. Laboratoriumanalyse toont langere bloedingstijd en, occasioneel, milde trombocytopenie."},"pt":{"name":"Doenças hemorrágicas por deficiência de recetores do colagénio"},"pl":{"name":"Skaza krwotoczna spowodowana defektem receptora kolagenu"},"cs":{"name":"Krvácivé diatézy způsobené poruchami kolagenního receptoru"},"uk":{"name":"Кровоточивий діатез внаслідок дефекту колагенових рецепторів","definition":"A rare, genetic coagulation disorder characterized by a mild to moderate bleeding tendency due to impaired platelet activation and aggregation in response to collagen, or impaired platelet-vessel wall interaction, resulting from a collagen receptor defect. Patients manifest with ecchymoses, epistaxis, menorrhagia, and/or post-traumatic and post-surgery bleeding complications. Laboratory analysis reveals prolonged bleeding time and, occasionally, mild thrombocytopenia."},"zh":{"name":"胶原受体缺乏所致自发性出血"},"tr":{"name":"Kolajen reseptör defektine bağlı kanama diyatezi"}},"xrefs":[{"source":"OMIM","code":"614200","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614201","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D69.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B62.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2048197131"},{"source":"MONDO","code":"0019138","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190736","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":[{"orpha":98885,"name":"Bleeding diathesis due to glycoprotein VI deficiency","type":"Etiological subtype"},{"orpha":98886,"name":"Bleeding diathesis due to integrin alpha2-beta1 deficiency","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"GP6","name":"glycoprotein VI platelet","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19549989[PMID]_19552682[PMID]","hgnc":"14388","ensembl":"ENSG00000088053","omim":"605546","loci":["19q13.42"],"via":{"orpha":98885,"name":"Bleeding diathesis due to glycoprotein VI deficiency"}}],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"7687896[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}