{"orpha":329319,"name":"Thrombocythemia with distal limb defects","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial thrombocytosis with transverse limb defect","Hereditary thrombocytosis with transverse limb defect"],"definition":"Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-329319/","orphanet_url":"https://www.orpha.net/en/disease/detail/329319","names":{"fr":{"name":"Thrombocytémie avec anomalies distales des membres","synonyms":["Thrombocytose familiale avec anomalie réductionnelle transverse des membres","Thrombocytose héréditaire avec anomalie réductionnelle transverse des membres"],"definition":"Syndrome rare avec anomalies réductionnelles des membres caractérisé par une thrombocytose, des anomalies transversales unilatérales des membres (allant de l'absence de phalanges à l'absence de main ou d'avant-bras) et une splénomégalie."},"de":{"name":"Hereditäre Thrombozytose mit transversalen Extremitätendefekt","synonyms":["Thrombozytose, familiäre, mit transversalen Extremitätendefekt"]},"es":{"name":"Trombocitopenia con defectos distales de las extremidades","synonyms":["Trombocitosis familiar con un defecto trasversal de las extremidades"],"definition":"Es un síndrome genético poco frecuente con defectos por reducción de las extremidades caracterizado por trombocitosis, defectos transversales unilaterales de las extremidades (que van desde la ausencia de falanges hasta la ausencia de mano o antebrazo) y esplenomegalia."},"it":{"name":"Trombocitemia con difetti della porzione distale degli arti","synonyms":["Trombocitosi familiare con difetto trasversale degli arti"],"definition":"La trombocitemia con difetti della porzione distale degli arti è una malattia genetica rara con difetti in riduzione degli arti, caratterizzata da trombocitosi, difetti trasversali monolaterali degli arti (che vanno dall'aplasia delle falangi fino all'aplasia della mano o dell'avambraccio) e splenomegalia."},"nl":{"name":"Trombocytemie met distale ledemaatdefecten","synonyms":["Familiale trombocytose met transversaal ledemaatdefect","Hereditaire trombocytose met transversaal ledemaatdefect"],"definition":"Trombocytemie met defecten aan distale ledematen is een zeldzaam, genetisch syndroom met ledemaatreductiedefecten, en wordt gekarakteriseerd door trombocytose, unilaterale transversale defecten aan de ledematen (gaande van afwezigheid van falangen tot afwezigheid van hand of onderarm) en splenomegalie."},"pt":{"name":"Trombocitose hereditária com defeitos terminais transversos dos membros"},"pl":{"name":"Nadpłytkowość z wadami dystalnymi kończyn","synonyms":["Nadpłytkowość rodzinna z odwróconą wadą kończyn"],"definition":"*Nadpłytkowość z wadami dystalnymi kończyn jest rzadkim, genetycznie uwarunkowanym zespołem wadami ubytkowych kończyn, który charakteryzuje się trombocytozą, jednostronnymi poprzecznymi wadami ubytkowymi kończyn (od braku paliczków do braku ręki lub przedramienia) oraz powiększeniem śledziony."},"cs":{"name":"Hereditární trombocytóza s transverzní končetinovou poruchou","synonyms":["Familiární trombocytóza s transverzní končetinovou poruchou"]},"uk":{"name":"Тромбоцитемія з дистальними ураженнями кінцівок","synonyms":["Сімейний тромбоцитоз з поперечним дефектом кінцівок","Спадковий тромбоцитоз з поперечним дефектом кінцівок"],"definition":"Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly."},"zh":{"name":"伴有远端肢体缺损的血小板增多症","synonyms":["遗传性血小板增多症伴横向肢体缺损"],"definition":"血小板增多症伴有远端肢体缺损是一种罕见的遗传性综合征，以血小板增多、单侧横断肢体缺损（从没有指骨到手或前臂缺失均可见）和脾肿大为特征。"},"tr":{"name":"Distal ekstremite defekti ile seyreden trombositemi","synonyms":["Enine ekstremite defekti ile seyreden ailesel trombositoz","Enine ekstremite defekti ile seyreden kalıtsal trombositoz"]}},"xrefs":[{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018000","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749944","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":248401,"name":"Rare thrombotic disorder due to a constitutional platelet anomaly","classifications":[156,194]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]}],"children":[],"genes":[{"symbol":"THPO","name":"thrombopoietin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19553636[PMID]","hgnc":"11795","ensembl":"ENSG00000090534","omim":"600044","loci":["3q27.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"19553636[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}