{"orpha":85212,"name":"Fetal Gaucher disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Perinatal lethal Gaucher disease"],"definition":"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85212/","orphanet_url":"https://www.orpha.net/en/disease/detail/85212","names":{"fr":{"name":"Maladie de Gaucher périnatale létale","definition":"La forme foetale de la maladie de Gaucher est la forme périnatale létale de la maladie de Gaucher (MG)."},"de":{"name":"Gaucher-Krankheit, fetale","synonyms":["Gaucher-Krankheit, fötale","Gaucher-Krankheit, perinatal-letale Form"]},"es":{"name":"Enfermedad de Gaucher, forma fetal","synonyms":["Enfermedad de Gaucher perinatal letal"],"definition":"La enfermedad de Gaucher fetal es la forma letal perinatal de la enfermedad de Gaucher (EG; consulte este término)."},"it":{"name":"Malattia di Gaucher fetale","synonyms":["Malattia di Gaucher perinatale letale"]},"nl":{"name":"Ziekte van Gaucher, foetale vorm","synonyms":["Ziekte van Gaucher, perinatale letale vorm"],"definition":"Ziekte van Gaucher, foetale vorm is de perinatale letale vorm van ziekte van Gaucher (GD)."},"pt":{"name":"Doença de Gaucher perinatal letal"},"pl":{"name":"Choroba Gauchera u płodu","synonyms":["Prenatalna śmiertelna choroba Gauchera"]},"cs":{"name":"Fetální Gaucherova choroba","synonyms":["Perinatální letální Gaucherova choroba"]},"uk":{"name":"Фетальна хвороба Гоше","synonyms":["Перинатальна летальна хвороба Гоше"],"definition":"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)."},"zh":{"name":"胎儿戈谢病","synonyms":["围产期致死性戈谢病"]},"tr":{"name":"Fetal Gaucher hastalığı","synonyms":["Perinatal letal Gaucher hastalığı"]}},"xrefs":[{"source":"OMIM","code":"608013","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C56.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1292099818"},{"source":"MONDO","code":"0011945","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564306","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1842704","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10675","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":281241,"name":"Autosomal ichthyosis syndrome with fatal disease course","classifications":[156,187]},{"orpha":355,"name":"Gaucher disease","classifications":[150,156,233]}],"children":[],"genes":[{"symbol":"GBA1","name":"glucosylceramidase beta 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20946052[PMID]_20301446[PMID]","hgnc":"4177","ensembl":"ENSG00000177628","omim":"606463","loci":["1q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"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":{"validation_status":"y","online":"y","validation_date":"2024-11-29","source":"20301446[PMID]_36220738[PMID]_20301446[PMID]_12838552[PMID]","terms":[{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Very 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(79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001790","label":"Nonimmune hydrops fetalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002179","label":"Opisthotonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Occasional 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