{"orpha":3319,"name":"Congenital amegakaryocytic thrombocytopenia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CAMT"],"definition":"An isolated constitutional thrombocytopenia characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3319/","orphanet_url":"https://www.orpha.net/en/disease/detail/3319","names":{"fr":{"name":"Thrombocytopénie amégacaryocytaire congénitale","synonyms":["CAMT"],"definition":"Thrombocytopénie constitutionnelle isolée, caractérisée par une diminution isolée et sévère du nombre de plaquettes et de mégacaryocytes au cours des premières années de vie, évoluant vers une insuffisance médullaire avec pancytopénie plus tard dans l'enfance."},"de":{"name":"Angeborene amegakaryozytäre Thrombozytopenie","synonyms":["CAMT","Kongenitale amegakaryozytäre thrombozytopenische Purpura","Thrombozytopenie, amegakaryozytäre, kongenitale"],"definition":"Eine isolierte konstitutionelle Thrombozytopenie, die durch eine isolierte und schwere Abnahme der Anzahl von Thrombozyten und Megakaryozyten während der ersten Lebensjahre gekennzeichnet ist, die sich später im Kindesalter zu einer Knochenmarkinsuffizienz mit Panzytopenie entwickelt."},"es":{"name":"Trombocitopenia amegacariocítica congénita","synonyms":["CAMT","Trombocitopenia púrpura amegacariocítica congénita"],"definition":"Es una trombocitopenia constitucional caracterizada por una disminución aislada y grave del número de plaquetas y megacariocitos durante los primeros años de vida que evoluciona posteriormente en la infancia a insuficiencia de la médula ósea con pancitopenia."},"it":{"name":"Trombocitopenia amegacariocitica congenita","synonyms":["CAMT","Porpora trombocitopenica amegacariocitica congenita"],"definition":"Si tratta di una trombocitopenia costituzionale isolata, caratterizzata da una riduzione marcata e isolata del numero delle piastrine e dei megacariociti nei primi anni di vita. Successivamente, durante l'infanzia, la malattia progredisce fino all'insufficienza del midollo osseo associata a pancitopenia."},"nl":{"name":"Congenitale amegakaryocytaire trombocytopenie","synonyms":["CAMT"],"definition":"Een geïsoleerde constitutionele trombocytopenie gekarakteriseerd door een geïsoleerde en ernstige daling van het aantal trombocyten en megakaryocyten tijdens de eerste levensjaren, die later in de kindertijd evolueert tot beenmergfalen met pancytopenie."},"pt":{"name":"Tombocitopenia amegacariocítica congénita","synonyms":["CAMT"]},"pl":{"name":"Wrodzona małopłytkowość amegakariocytowa","synonyms":["CAMT","Wrodzona plamica małopłytkowa amegakariocytowa"]},"cs":{"name":"Vrozená amegakaryocytová trombocytopenie","synonyms":["CAMT","Vrozená amegakaryocytová trombocytopenická purpura"]},"uk":{"name":"Вроджена амегакаріоцитарна тромбоцитопенія","synonyms":["CAMT"],"definition":"An isolated constitutional thrombocytopenia characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood."},"zh":{"name":"先天性无巨核细胞血小板减少症","synonyms":["CAMT"]},"tr":{"name":"Doğumsal amegakaryositik trombositopeni","synonyms":["CAMT"]}},"xrefs":[{"source":"OMIM","code":"604498","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620481","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D61.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B64.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"801723173"},{"source":"MONDO","code":"0011469","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"11469","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"800452","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535982","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1327915","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"640","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":397692,"name":"OBSOLETE: Hereditary isolated aplastic anemia","status":"inactive"}],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":477797,"name":"Isolated constitutional thrombocytopenia","classifications":[156,194]},{"orpha":68383,"name":"Rare constitutional aplastic anemia","classifications":[156,194,233]}],"children":[{"orpha":726053,"name":"Congenital amegakaryocytic thrombocytopenia without known causal genetic defect","type":"Etiological subtype"},{"orpha":726047,"name":"Congenital amegakaryocytic thrombocytopenia-MPL","type":"Clinical subtype"},{"orpha":726050,"name":"Congenital amegakaryocytic thrombocytopenia-THPO","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"MPL","name":"MPL proto-oncogene, thrombopoietin receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19302922[PMID]_24438083[PMID]","hgnc":"7217","ensembl":"ENSG00000117400","omim":"159530","loci":["1p34.2"],"via":{"orpha":726047,"name":"Congenital amegakaryocytic thrombocytopenia-MPL"}},{"symbol":"THPO","name":"thrombopoietin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29191945[PMID]","hgnc":"11795","ensembl":"ENSG00000090534","omim":"600044","loci":["3q27.1"],"via":{"orpha":726050,"name":"Congenital amegakaryocytic thrombocytopenia-THPO"}}],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"21337678[PMID]_22102270[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.15,"area":"United Kingdom","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011902","label":"Abnormal hemoglobin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004331","label":"Decreased skull ossification","frequency":"Occasional (29-5%)","criteria":null}]}}