{"orpha":168629,"name":"Autosomal isolated thrombocytopenia with normal platelets size","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-168629/","orphanet_url":"https://www.orpha.net/en/disease/detail/168629","names":{"fr":{"name":"Thrombocytopénie isolée autosomique avec plaquettes de taille normale"},"de":{"name":"Isolierte Thrombozytopenie mit normaler Thrombozytengröße, autosomale Form"},"es":{"name":"Trombocitopenia aislada autosómica con plaquetas de tamaño normal"},"it":{"name":"Trombocitopenia autosomica isolata con piastrine normali"},"nl":{"name":"Autosomale geïsoleerde trombocytopenie met normale bloedplaatjes","synonyms":["Autosomale geïsoleerde trombocytopenie met normale trombocyten"]},"pt":{"name":"Trombocitopenia autossómica com plaquetas normais"},"pl":{"name":"Autosomalna trombocytopenia z prawidłowymi płytkami krwi"},"cs":{"name":"Autozomální trombocytopenie s normálními krevními destičkami"},"uk":{"name":"Аутосомна тромбоцитопенія з нормальними тромбоцитами"},"zh":{"name":"常染色体血小板减少症伴血小板正常"},"tr":{"name":"Normal trombositler ile seyreden otozomal 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":"612004","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616216","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D69.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C5680462","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":268322,"name":"Hereditary isolated thrombocytopenia with normal platelets size","classifications":[156,194]}],"children":[],"genes":[{"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"]},{"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"]},{"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"]},{"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"]},{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}