{"orpha":675767,"name":"Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCN-developmental delay syndrome due to SRP54 deficiency","Severe congenital neutropenia-developmental delay syndrome due to signal recognition protein 54 deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-675767/","orphanet_url":"https://www.orpha.net/en/disease/detail/675767","names":{"fr":{"name":"Syndrome de neutropénie congénitale sévère-retard du développement par déficit en SRP54","synonyms":["Syndrome de NCS-retard du développement par déficit en SRP54","Syndrome de neutropénie congénitale sévère-retard du développement par déficit en signal recognition protein 54"]},"de":{"name":"Schwere kongenitale Neutropenie-Entwicklungsverzögerung-Syndrom durch SRP54-Mangel","synonyms":["SCN-Entwicklungsverzögerung-Syndrom durch SRP54-Defizienz"]},"es":{"name":"Síndrome de neutropenia congénita grave-retraso del desarrollo por deficiencia de SRP54","synonyms":["Síndrome de NCG-retraso del desarrollo por deficiencia de SRP54","Síndrome de neutropenia congénita grave-retraso del desarrollo por deficiencia de la proteína 54 de reconocimiento de señales"]},"it":{"name":"Sindrome neutropenia congenita grave-ritardo dello sviluppo-insufficienza pancreatica da deficit di SRP54","synonyms":["Sindrome NCG-ritardo dello sviluppo-insufficienza pancreatica da deficit di SRP54","Sindrome neutropenia congenita grave-ritardo dello sviluppo-insufficienza pancreatica da deficit della proteina di riconoscimento del segnale 54"]},"nl":{"name":"Ernstige congenitale neutropenie - ontwikkelingsachterstand-syndroom door SRP54-deficiëntie","synonyms":["Ernstige congenitale neutropenie - ontwikkelingsachterstand-syndroom door deficiëntie van 'signal recognition'- proteïne 54","SCN - ontwikkelingsachterstand-syndroom door SRP54-deficiëntie"]},"pt":{"name":"Síndrome de neutropenia congénita grave-perturbação do desenvolvimento-insuficiência pancreática devida a deficiência SRP54","synonyms":["Síndrome de SCN-perturbação do desenvolvimento-insuficiência devida a deficiência SRP54","Síndrome de neutropenia congénita grave-perturbação do desenvolvimento por deficiência da proteína 54 de reconhecimento de sinal"]},"pl":{"name":"Zespół ciężkiej wrodzonej neutropenii, opóźnienia rozwoju i niewydolności trzustki spowodowanej niedoborem SRP54","synonyms":["SCN-developmental delay syndrome due to SRP54 deficiency","Severe congenital neutropenia-developmental delay syndrome due to signal recognition protein 54 deficiency"]},"cs":{"name":"Syndrom související s deficitem SRP54 zahrnující těžkou vrozenou neutropenii, opožděný vývoj a pankreatickou insuficienci","synonyms":["SCN-developmental delay syndrome due to SRP54 deficiency","Severe congenital neutropenia-developmental delay syndrome due to signal recognition protein 54 deficiency"]},"uk":{"name":"Синдром тяжкої вродженої нейтропенії-затримки розвитку-недостатності підшлункової залози, зумовлений дефіцитом SRP54","synonyms":["Синдром затримки розвитку підшлункової залози - панкреатична недостатність внаслідок дефіциту SRP54","Тяжка вроджена нейтропенія - синдром затримки розвитку та недостатності підшлункової залози внаслідок дефіциту білка розпізнавання сигналів 54"]}},"xrefs":[{"source":"OMIM","code":"618752","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"0032899","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"32899","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925083","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":331184,"name":"Syndrome with congenital neutropenia as a major feature","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"SRP54","name":"signal recognition particle 54","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"29914977[PMID]_30237254[PMID]","hgnc":"11301","ensembl":"ENSG00000100883","omim":"604857","loci":["14q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":26.0,"area":"Worldwide","status":"Validated","source":"28972538[PMID]_29914977[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"28972538[PMID]_29914977[PMID]_ORPHANET"}],"phenotypes":null}