{"orpha":309252,"name":"Atypical Gaucher disease due to saposin C deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Gaucher disease","url":"https://raremap.alftech.space/d/ORPHA-309252/","orphanet_url":"https://www.orpha.net/en/disease/detail/309252","names":{"fr":{"name":"Maladie de Gaucher atypique par déficit en saposine C"},"de":{"name":"Gaucher-Krankheit, atypische, durch to Saposin C-Mangel"},"es":{"name":"Enfermedad de Gaucher atípica por deficiencia de saposina C"},"it":{"name":"Malattia atipica di Gaucher da deficit di saposina C"},"nl":{"name":"Atypische ziekte van Gaucher door saposine C-deficiëntie"},"pt":{"name":"Doença de Gaucher atípica, défice de saposinaC"},"pl":{"name":"Atypowa choroba Gauchera z powodu niedoboru saposiny C"},"cs":{"name":"Atypická Gaucherova nemoc způsobená deficitem saposinu C"},"uk":{"name":"Атипова хвороба Гоше, зумовлена дефіцитом сапозину С"},"zh":{"name":"鞘脂C缺乏症所致非典型戈谢病"},"tr":{"name":"Saposin C eksikliğine bağlı atipik Gaucher hastalığı"}},"xrefs":[{"source":"OMIM","code":"610539","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":"1092756118"},{"source":"MONDO","code":"0012517","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566435","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1864651","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":355,"name":"Gaucher disease","classifications":[150,156,233]}],"children":[],"genes":[{"symbol":"PSAP","name":"prosaposin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9498","ensembl":"ENSG00000197746","omim":"176801","loci":["10q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-12-11","source":"35456468[PMID]_28457694[PMID]_26831127[PMID]_17919309[PMID]","terms":[{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:6000611","label":"Elevated circulating chitotriosidase activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6001185","label":"Elevated circulating glucosylsphingosine concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001751","label":"Abnormal vestibular function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003656","label":"Decreased beta-glucocerebrosidase level","frequency":"Excluded (0%)","criteria":null}]}}