{"orpha":726036,"name":"Red cell aplasia-microcephaly-seizure-developmental delay syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BMFS due to TP53 gain-of-function variant","RCA-microcephaly-seizure-developmental delay syndrome","Germline p53 activation syndrome","BMFS5"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-726036/","orphanet_url":"https://www.orpha.net/en/disease/detail/726036","names":{"fr":{"name":"Syndrome d'anémie aplasique-microcéphalie-épilepsie-retard de développement","synonyms":["Syndrome d'anémie aplasique dû à un variant gain de fonction de TP53"]},"de":{"name":"Erythrozytenaplasie-Mikrozephalie-Krampfanfälle-Entwicklungsverzögerung-Syndrom","synonyms":["Keimbahn-p53-Aktivierungs-Syndrom","Knochenmarkversagen-Syndrom durch TP53-GOF-Mutation","BMFS durch gain-of-function-Mutation im TP53-Gen","BMFS5"]},"es":{"name":"Síndrome de aplasia de glóbulos rojos-microcefalia-crisis-retraso del desarrollo","synonyms":["SFM por una variante con ganancia de función del gen TP53","SFM5","Síndrome de activación germinal del gen p53","Síndrome de AGR-microcefalia-crisis-retraso del desarrollo"]},"it":{"name":"Sindrome aplasia degli eritrociti-microcefalia-crisi epilettiche-ritardo dello sviluppo","synonyms":["BMFS5","Sindrome da attivazione della linea germinale di p53","BMFS da mutazione con Guadagno di funzione di TP53","Sindrome RCA-microcefalia-crisi epilettiche-ritardo dello sviluppo"]},"nl":{"name":"Erytrocytaire aplasie - microcefalie - insult - ontwikkelingsachterstand-syndroom","synonyms":["BMFS5","Kiembaan p53-activatiesyndroom","BMFS door TP53-variant met functiewinst","RCA - microcefalie - insult - ontwikkelingsachterstand-syndroom","Rodebloedcelaplasie - microcefalie - insult - ontwikkelingsachterstand-syndroom"]},"pt":{"name":"Red cell aplasia-microcephaly-seizure-developmental delay syndrome"},"pl":{"name":"Red cell aplasia-microcephaly-seizure-developmental delay syndrome","synonyms":["BMFS due to TP53 gain-of-function variant","RCA-microcephaly-seizure-developmental delay syndrome","Germline p53 activation syndrome","BMFS5"]},"cs":{"name":"Red cell aplasia-microcephaly-seizure-developmental delay syndrome","synonyms":["BMFS due to TP53 gain-of-function variant","RCA-microcephaly-seizure-developmental delay syndrome","Germline p53 activation syndrome","BMFS5"]}},"xrefs":[{"source":"OMIM","code":"618165","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":728475,"name":"Inherited bone marrow failure disorder with immune defect","classifications":[156,195]},{"orpha":68383,"name":"Rare constitutional aplastic anemia","classifications":[156,194,233]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TP53","name":"tumor protein p53","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30146126[PMID]","hgnc":"11998","ensembl":"ENSG00000141510","omim":"191170","loci":["17p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}