{"orpha":566192,"name":"Congenital autosomal recessive small-platelet thrombocytopenia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CARST"],"definition":"A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-566192/","orphanet_url":"https://www.orpha.net/en/disease/detail/566192","names":{"fr":{"name":"Thrombocytopénie à petites plaquettes congénitale autosomique récessive","synonyms":["CARST"],"definition":"Thrombocytopénie constitutionnelle isolée rare caractérisée par l'apparition néonatale d'une thrombocytopénie à petites plaquettes avec une tendance nettement plus importante aux saignements. Les symptômes hémorragiques sont une éruption pétéchiale, des saignements muqueux et des saignements menstruels abondants. La croissance et le développement, ainsi que la susceptibilité aux infections, sont normaux."},"de":{"name":"Kongenitale autosomal-rezessive Thrombozytopenie der kleinen Blutplättchen","synonyms":["ADAP-Defizienz","CARST","FYN-bindendes Protein-Defizienz"],"definition":"Eine isolierte konstitutionelle Thrombozytopenie, die durch eine im Neugeborenenalter einsetzende Thrombozytopenie mit kleinen Blutplättchen und deutlich erhöhter Blutungsneigung gekennzeichnet ist. Zu den Blutungssymptomen gehören petechialer Hautausschlag, Schleimhautblutungen und starke Menstruationsblutungen. Wachstum und Entwicklung sind normal, und es besteht keine erhöhte Anfälligkeit für Infektionen."},"es":{"name":"Trombocitopenia de plaquetas pequeñas congénita autosómica recesiva","synonyms":["CARST","Deficiencia de ADAP","Deficiencia de proteína adaptadora promotora de la adhesión y degranulación","Deficiencia de proteína de unión FYN"],"definition":"Es una trombocitopenia constitucional aislada poco frecuente caracterizada por una trombocitopenia de plaquetas pequeñas de inicio neonatal con una tendencia significativamente elevada al sangrado. Los síntomas hemorrágicos incluyen erupción petequial, sangrado de las mucosas y sangrado menstrual abundante. Tanto el crecimiento como el desarrollo son normales y no se describe una mayor susceptibilidad a las infecciones."},"it":{"name":"Trombocitopenia congenita autosomica recessiva con piastrine piccole","synonyms":["CARST"],"definition":"Si tratta di una trombocitopenia costituzionale isolata rara, caratterizzata da trombocitopenia con piastrine piccole, ad esordio neonatale, associata ad una significativa predisposizione alle emorragie. I sintomi emorragici comprendono le petecchie, l'emorragia delle mucose e l'ipermenorrea. La crescita e lo sviluppo sono normali. La malattia non predispone alle infezioni."},"nl":{"name":"Congenitale autosomaal recessieve trombocytopenie met kleine bloedplaatjes","synonyms":["ADAP-deficiëntie","CARST","Deficiëntie van FYN-bindingsproteïne","Deficiëntie van adhesie- en degranulatie-bevorderend adaptorproteïne"],"definition":"Een zeldzame geïsoleerde constitutionele trombocytopenie, gekarakteriseerd door neonatale aanvang van trombocytopenie met kleine bloedplaatjes met significant verhoogde bloedingsneiging. Symptomen van bloeding zijn onder meer petechiën van huid, bloeding van mucosa, en hevige menstruele bloeding. Groei en ontwikkeling zijn normaal, en er is geen verhoogde susceptibiliteit voor infectie."},"pt":{"name":"Trombocitopenia de plaquetas pequenas autossómica recessiva congénita"},"pl":{"name":"Wrodzona płytkowa trombocytopenia autosomalna recesywna","synonyms":["CARST"]},"cs":{"name":"Vrozená autozomálně recesivní trombocytopenie malých krevních destiček","synonyms":["CARST"]},"uk":{"name":"Вроджена аутосомно-рецесивна тромбоцитопенія дрібних тромбоцитів","synonyms":["CARST"],"definition":"A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections."},"zh":{"name":"先天性常染色体隐性遗传小血小板减少症","synonyms":["CARST"]},"tr":{"name":"Doğumsal otozomal resesif küçük trombosit trombositopeni","synonyms":["CARST"]}},"xrefs":[{"source":"OMIM","code":"273900","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"620484","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D69.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B64.01","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035441","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680129","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":[],"genes":[{"symbol":"FYB1","name":"FYN binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25876182[PMID]","hgnc":"4036","ensembl":"ENSG00000082074","omim":"602731","loci":["5p13.1"]},{"symbol":"PTPRJ","name":"protein tyrosine phosphatase receptor type J","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30591527[PMID]","hgnc":"9673","ensembl":"ENSG00000149177","omim":"600925","loci":["11p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"25876182[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25876182[PMID]"}],"phenotypes":null}