{"orpha":268322,"name":"Hereditary isolated thrombocytopenia with normal platelets size","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, isolated constitutional thrombocytopenia disease characterized by decreased platelet counts, not associated with platelet morphology or function impairment, in multiple members of a family. Manifestations are variable, typically ranging from asymptomatic to mild bleeding diathesis (e.g. easy bruising, epistaxis, petechiae). Occasionally, a more severe bleeding tendency has been associated and a mild predisposition to infection and eczema has been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-268322/","orphanet_url":"https://www.orpha.net/en/disease/detail/268322","names":{"fr":{"name":"Thrombocytopénie héréditaire isolée avec plaquettes de taille normale","definition":"Thrombocytopénie constitutionnelle isolée rare d'origine génétique caractérisée par une diminution du nombre de plaquettes, en l'absence d'association avec une altération de la morphologie ou de la fonction plaquettaire, observée chez plusieurs membres d'une même famille. Inconstante dans ses manifestations, la maladie varie typiquement de l'asymptomatique à la diathèse hémorragique légère (par exemple, tendance aux ecchymoses, épistaxis, pétéchies). Dans certains cas rapportés, s'observe l'association avec une tendance hémorragique plus sévère et une légère prédisposition aux infections et à l'eczéma."},"de":{"name":"Hereditäre isolierte Thrombozytopenie mit normaler Thrombozytengröße"},"es":{"name":"Trombocitopenia aislada hereditaria con plaquetas de tamaño normal","definition":"Es una enfermedad trombocitopénica constitucional aislada, genética y poco frecuente, caracterizada por un descenso en el recuento de plaquetas, no asociado a su morfología y sin afectación de su función, que se presenta en varios miembros de una misma familia. Las manifestaciones son variables y, por lo general, oscilan desde una diátesis hemorrágica asintomática a leve (p. ej., hematomas fáciles, epistaxis, petequias). En ocasiones, se ha asociado a una mayor tendencia al sangrado y se ha descrito una ligera predisposición a las infecciones y eccemas."},"it":{"name":"Trombocitopenia ereditaria isolata con piastrine normali","definition":"È una trombocitopenia costituzionale isolata rara di origine genetica, caratterizzata da una diminuzione del numero delle piastrine, che non presentano né anomalie morfologiche né funzionali, in più membri della stessa famiglia. I segni clinici sono variabili; i pazienti possono essere asintomatici o presentare diatesi emorragica lieve (tendenza alle ecchimosi, epistassi, petecchie). Raramente i pazienti vanno incontro ad emorragie più gravi e sono predisposti alle infezioni e all'eczema."},"nl":{"name":"Erfelijke geïsoleerde trombocytopenie met normale bloedplaatjes","synonyms":["Hereditaire geïsoleerde trombocytopenie met normale trombocyten"],"definition":"Een zeldzame, genetische, geïsoleerde constitutionele trombocytopenie die gekarakteriseerd wordt door een verlaagd aantal bloedplaatjes, niet geassocieerd met verstoorde morfologie of functie van bloedplaatjes, bij meerdere leden van een familie. Manifestaties zijn variabel, doorgaans gaande van asymptomatisch tot milde aanleg voor bloedingen (e.g. makkelijk kneuzen, neusbloeding, petechiën). Occasioneel is een ernstigere bloedingsneiging geassocieerd en er werd ook reeds een milde vatbaarheid voor infectie en eczeem gerapporteerd."},"pt":{"name":"Trombocitopenia hereditária com plaquetas normais"},"pl":{"name":"Dziedziczna małopłytkowość z prawidłowymi płytkami krwi"},"cs":{"name":"Dědičná trombocytopenie s normálními destičkami"},"uk":{"name":"Спадкова тромбоцитопенія з нормальними тромбоцитами","definition":"A rare, genetic, isolated constitutional thrombocytopenia disease characterized by decreased platelet counts, not associated with platelet morphology or function impairment, in multiple members of a family. Manifestations are variable, typically ranging from asymptomatic to mild bleeding diathesis (e.g. easy bruising, epistaxis, petechiae). Occasionally, a more severe bleeding tendency has been associated and a mild predisposition to infection and eczema has been reported."},"zh":{"name":"血小板正常的遗传性血小板减少症","definition":"一种罕见的遗传性孤立体质血小板减少性疾病，其特征是血小板数量减少，与血小板形态或功能受损无关，发生在一个家庭的多个成员中。表现多种多样，通常从无症状到轻度出血(如易擦伤、鼻出血、瘀斑)不等。偶尔会有更严重的出血倾向，并有轻微的感染和湿疹易感性的报道。"},"tr":{"name":"Normal trombositler ile seyreden kalıtsal trombositopeni"}},"xrefs":[{"source":"OMIM","code":"188000","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"273900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"313900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612004","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":"0017057","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190888","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":[{"orpha":168629,"name":"Autosomal isolated thrombocytopenia with normal platelets size","type":"Etiological subtype"},{"orpha":852,"name":"X-linked isolated thrombocytopenia with normal platelets size","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"ANKRD26","name":"ankyrin repeat domain 26","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26175287[PMID]","hgnc":"29186","ensembl":"ENSG00000107890","omim":"610855","loci":["10p12.1"],"via":{"orpha":168629,"name":"Autosomal isolated thrombocytopenia with normal platelets size"}},{"symbol":"CYCS","name":"cytochrome c, somatic","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18345000[PMID]_24326104[PMID]","hgnc":"19986","ensembl":"ENSG00000172115","omim":"123970","loci":["7p15.3"],"via":{"orpha":168629,"name":"Autosomal isolated thrombocytopenia with normal platelets size"}},{"symbol":"ETV6","name":"ETS variant transcription factor 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27365488[PMID]","hgnc":"3495","ensembl":"ENSG00000139083","omim":"600618","loci":["12p13.2"],"via":{"orpha":168629,"name":"Autosomal isolated thrombocytopenia with normal platelets size"}},{"symbol":"IKZF5","name":"IKAROS family zinc finger 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31217188[PMID]","hgnc":"14283","ensembl":"ENSG00000095574","omim":"606238","loci":["10q26.13"],"via":{"orpha":168629,"name":"Autosomal isolated thrombocytopenia with normal platelets size"}},{"symbol":"MASTL","name":"microtubule associated serine/threonine kinase like","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12890928[PMID]","hgnc":"19042","ensembl":"ENSG00000120539","omim":"608221","loci":["10p12.1"],"via":{"orpha":168629,"name":"Autosomal isolated thrombocytopenia with normal platelets size"}},{"symbol":"WAS","name":"WASP actin nucleation promoting factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301357[PMID]","hgnc":"12731","ensembl":"ENSG00000015285","omim":"300392","loci":["Xp11.23"],"via":{"orpha":852,"name":"X-linked isolated thrombocytopenia with normal platelets size"}}],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}