{"orpha":466806,"name":"Autosomal dominant thrombocytopenia with platelet secretion defect","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare isolated constitutional thrombocytopenia characterized by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle hematoma, and potential postpartum hemorrhage, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-466806/","orphanet_url":"https://www.orpha.net/en/disease/detail/466806","names":{"fr":{"name":"Thrombocytopénie autosomique dominante avec défaut de sécrétion plaquettaire","definition":"Thrombocytopénie constitutionnelle isolée rare caractérisée par un nombre réduit de plaquettes et un défaut de sécrétion d'ATP plaquettaire, augmentant la tendance aux saignements. Les signes cliniques sont une tendance aux ecchymoses, des saignements des gencives, des ménorragies, des épistaxis spontanées, des hématomes musculaires spontanés et des hémorragies post-partum potentielles notamment."},"de":{"name":"Autosomal-dominante Thrombozytopenie mit Defekt der Plättchensekretion","definition":"Eine seltene isolierte konstitutionelle Thrombozytopenie, die durch eine verminderte Thrombozytenzahl und eine gestörte ATP-Sekretion der Thrombozyten gekennzeichnet ist und zu einer erhöhten Blutungsneigung führt. Klinische Manifestationen sind u. a. leichte Blutergüsse, Zahnfleischbluten, Menorrhagie, spontane Epistaxis, spontane Muskelhämatome und mögliche postpartale Blutungen."},"es":{"name":"Trombocitopenia autosómica dominante con defecto de la secreción plaquetaria","definition":"Es una trombocitopenia constitucional aislada, poco frecuente, caracterizada por un descenso del recuento plaquetario y un defecto en la secreción de ATP plaquetario, cuya consecuencia es la tendencia a sangrar con facilidad. Las manifestaciones clínicas incluyen propensión a hematomas, sangrado gingival, menorragia, epistaxis espontánea, hematoma muscular espontáneo y una posible hemorragia post-parto, entre otras."},"it":{"name":"Trombocitopenia autosomica dominante con difetto della secrezione delle piastrine","definition":"Si tratta di una trombocitopenia costituzionale isolata rara, caratterizzata da un numero ridotto di piastrine e da un difetto nella secrezione dell'ATP piastrinico, in associazione con una tendenza alle emorragie. I segni clinici comprendono le ecchimosi, il sanguinamento delle gengive, la menorragia, l'epistassi spontanea, gli ematomi muscolari spontanei e il rischio di emorragia postpartum."},"nl":{"name":"Autosomaal dominante trombocytopenie met defect van bloedplaatjessecretie","definition":"Een zeldzame, geïsoleerde constitutionele trombocytopenie, gekarakteriseerd door verminderd aantal trombocyten en verstoorde ATP-secretie door trombocyten, met verhoogde bloedingsneiging tot gevolg. Klinische manifestaties zijn onder meer gevoeligheid voor kneuzing, bloeding van tandvlees, menorragie, spontane epistaxis, spontaan hematoom van spier, en potentiële hemorragie postpartum."},"pt":{"name":"Trombocitopenia autossómica dominante com defeito da secreção plaquetária"},"pl":{"name":"Autosomalna dominująca małopłytkowość z defektem sekrecji płytkowej"},"cs":{"name":"Autozomálně dominantní trombocytopenie s poruchou sekrece destiček"},"uk":{"name":"Аутосомно-домінантна тромбоцитопенія з дефектом секреції тромбоцитів","definition":"A rare isolated constitutional thrombocytopenia characterized by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle hematoma, and potential postpartum hemorrhage, among others."},"zh":{"name":"常染色体显性血小板减少症伴血小板分泌缺陷","definition":"是一种罕见的孤立性全身性血小板减少症，其特点是血小板数量减少，血小板ATP分泌缺陷，导致出血倾向增加。临床表现为易挫伤、牙龈出血、闭经、自发性鼻出血、自发性肌肉血肿和潜在的产后出血等。"},"tr":{"name":"Trombosit sekresyon defekti ile seyreden otozomal dominant trombositopeni"}},"xrefs":[{"source":"OMIM","code":"616913","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619130","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D69.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B64.01","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"14830","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568864","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":477797,"name":"Isolated constitutional thrombocytopenia","classifications":[156,194]}],"children":[],"genes":[{"symbol":"SLFN14","name":"schlafen family member 14","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26280575[PMID]","hgnc":"32689","ensembl":"ENSG00000236320","omim":"614958","loci":["17q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"26280575[PMID]_26769223[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26280575[PMID]_26769223[PMID]"}],"phenotypes":null}