{"orpha":480851,"name":"Hereditary thrombocytopenia with early-onset myelofibrosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare syndromic constitutional thrombocytopenia characterized by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and splenomegaly. Platelets may be abnormally large or small and partly hypo- or agranular, plasma thrombopoietin is elevated, and the number of megakaryocytes in the bone marrow increased. Additional non-hematologic manifestations have been described in some patients, including mild bone abnormalities and facial dysmorphism with large forehead, hypertelorism, deep-set eyes, and wide nostrils.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-480851/","orphanet_url":"https://www.orpha.net/en/disease/detail/480851","names":{"fr":{"name":"Thrombocytopénie héréditaire avec myélofibrose à début précoce","definition":"Thrombocytopénie constitutionnelle syndromique rare caractérisée par une thrombocytopénie avec une tendance accrue aux saignements (à l'origine des épistaxis, ménorragies et pétéchies), en association avec une myélofibrose et une splénomégalie. Les plaquettes sont anormalement grandes ou petites et partiellement hypo- ou agranulaires, le taux de thrombopoïétine plasmatique, ainsi que le taux de mégacaryocytes dans la moelle osseuse sont élevés. D'autres signes cliniques non hématologiques ont été décrits chez certains patients, notamment de légères anomalies osseuses et une dysmorphie faciale avec un grand front, un hypertélorisme, des yeux profondément situés dans les orbites et des narines larges."},"de":{"name":"Hereditäre Thrombozytopenie mit früh-beginnender Myelofibrose","definition":"Eine syndromale konstitutionelle Störung der Blutgerinnung&#8206;, die durch Thrombozytopathie mit erhöhter Blutungsneigung (die zu Epistaxis, Menorrhagie und Petechien führt) in Kombination mit Myelofibrose und Splenomegalie gekennzeichnet ist. Die Thrombozyten können abnorm groß oder klein und teilweise hypo- oder agranulär sein, das Thrombopoietin im Plasma ist erhöht, und die Zahl der Megakaryozyten im Knochenmark ist erhöht. Bei einigen Patienten sind zusätzliche nicht-hämatologische Manifestationen beschrieben worden, darunter leichte Knochenanomalien und Gesichtsdysmorphien mit großer Stirn, Hypertelorismus, tiefliegenden Augen und breiten Nasenlöchern."},"es":{"name":"Trombocitopenia hereditaria con mielofibrosis de inicio precoz","definition":"Es una trombocitopenia constitucional sindrómica poco frecuente caracterizada por trombocitopenia con incremento de la tendencia al sangrado (que conduce a epistaxis, menorragia y petequias), en combinación con mielofibrosis y esplenomegalia. Las plaquetas pueden ser anormalmente grandes o pequeñas y parcialmente hipogranulares o agranulares, la trombopoyetina plasmática está elevada y el recuento de megacariocitos en la médula ósea está aumentado. En algunos pacientes se han descrito otras manifestaciones no hematológicas que incluyen anomalías óseas leves y dismorfia facial con frente ancha, hipertelorismo, ojos hundidos y narinas anchas."},"it":{"name":"Trombocitopenia ereditaria con mielofibrosi ad esordio precoce","definition":"Si tratta di una trombocitopenia costituzionale sindromica rara, caratterizzata da trombocitopenia con tendenza alle emorragie (che causa epistassi, menorragia e petecchie), associata a mielofibrosi e splenomegalia. Le piastrine possono essere abnormemente grandi o piccole, e parzialmente ipogranulari o agranulari. I livelli di trombopoietina nel plasma sono elevati e il numero di megacariociti nel midollo osseo è aumentato. Alcuni pazienti presentano anche altri sintomi non ematologici che comprendono lievi anomalie ossee e dismorfismi facciali (fronte ampia, ipertelorismo, occhi infossati e narici larghe)."},"nl":{"name":"Erfelijke trombocytopenie met myelofibrose met vroege aanvang","definition":"Een zeldzame syndromale constitutionele trombocytopenie, gekarakteriseerd door trombocytopenie met verhoogde bloedingsneiging (wat leidt tot epistaxis, menorragie, en petechiën), in combinatie met myelofibrose en splenomegalie. Bloedplaatjes kunnen abnormaal groot of klein zijn en deels hypo- of agranulair, trombopoëtine in plasma is toegenomen, en het aantal megakaryocyten in beenmerg is verhoogd. Bij sommige patiënten werden bijkomende niet-hematologische manifestaties beschreven, waaronder milde botanomalieën en faciale dysmorfie met groot voorhoofd, hypertelorisme, diepliggende ogen, en brede neusgaten."},"pt":{"name":"Trombocitopenia hereditária com mielofibrose de início precoce"},"pl":{"name":"Dziedziczna małopłytkowość z mielofibrozą o wczesnym początku"},"cs":{"name":"Hereditární trombocytopénie s časnou myelofibrózou"},"uk":{"name":"Спадкова тромбоцитопенія з раннім мієлофіброзом","definition":"A rare syndromic constitutional thrombocytopenia characterized by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and splenomegaly. Platelets may be abnormally large or small and partly hypo- or agranular, plasma thrombopoietin is elevated, and the number of megakaryocytes in the bone marrow increased. Additional non-hematologic manifestations have been described in some patients, including mild bone abnormalities and facial dysmorphism with large forehead, hypertelorism, deep-set eyes, and wide nostrils."},"zh":{"name":"遗传性血小板减少伴早发性骨髓纤维化","definition":"是一种少见的综合征性全身血小板减少症，其特点是血小板减少，出血倾向增加（导致鼻出血、月经过多和瘀斑），同时伴有骨髓纤维化和脾脏肿大。血小板可异常变大或变小，部分呈低颗粒或无颗粒，血浆凝血酶升高，骨髓中巨核细胞数量增加。部分患者还有其他非血液学表现，包括轻度骨质异常和面部畸形，大额头、器官间距过远、眼深凹、宽大鼻孔。"},"tr":{"name":"Erken başlangıçlı miyelofibroz ile seyreden kalıtsal trombositopeni"}},"xrefs":[{"source":"OMIM","code":"616937","qualifier":"E","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":"0014837","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4310789","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":98274,"name":"Myeloproliferative neoplasm","classifications":[194,202,233]},{"orpha":477794,"name":"Syndromic constitutional thrombocytopenia","classifications":[156,194]}],"children":[],"genes":[{"symbol":"SRC","name":"SRC proto-oncogene, non-receptor tyrosine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"26936507[PMID]","hgnc":"11283","ensembl":"ENSG00000197122","omim":"190090","loci":["20q11.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"26936507[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26936507[PMID]"}],"phenotypes":null}