{"orpha":309020,"name":"Familial apolipoprotein C-II deficiency","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Familial APOC2 deficiency","Familial apoC-II deficiency"],"definition":null,"note":"This disease is described under Familial chylomicronemia syndrome","url":"https://raremap.alftech.space/d/ORPHA-309020/","orphanet_url":"https://www.orpha.net/en/disease/detail/309020","names":{"fr":{"name":"Déficit familial en apolipoprotéine C-II","synonyms":["Déficit familial en apoC-II","Déficit familial en apoC2"]},"de":{"name":"Apolipoprotein CII-Mangel, familiärer","synonyms":["Familiärer APOC2-Mangel","Familiärer ApoC-II-Mangel"]},"es":{"name":"Deficiencia familiar de apolipoproteína C-II","synonyms":["Deficiencia familiar de apoC-II"]},"it":{"name":"Deficit familiare di apolipoproteina C-II","synonyms":["Deficit di apoC-II"]},"nl":{"name":"Familiale deficiëntie van apolipoproteïne C-II","synonyms":["Familiale APOC2-deficiëntie","Familiale apoC-II-deficiëntie"]},"pt":{"name":"Défice familiar de apolipoproteína C-II"},"pl":{"name":"Rodzinny niedobór apolipoproteiny C-II","synonyms":["Rodzinny Niedobór apoC-II"]},"cs":{"name":"Familiární deficit apoliproteinu C-II","synonyms":["Familiární deficit apoC-II"]},"uk":{"name":"Сімейний дефіцит аполіпопротеїну C-II","synonyms":["Сімейний дефіцит APOC2","Сімейний дефіцит апоС-ІІ"]},"zh":{"name":"家族性载脂蛋白C-II缺乏症","synonyms":["家族性载脂蛋白C-II缺乏症"]},"tr":{"name":"Ailesel apolipoprotein C-II eksikliği","synonyms":["Ailesel APOC2 eksikliği","Ailesel apoC-II eksikliği"]}},"xrefs":[{"source":"OMIM","code":"207750","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E78.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C80.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"877401371"},{"source":"MONDO","code":"0008810","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268199","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"759","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":444490,"name":"Familial chylomicronemia syndrome","classifications":[150,156,193]}],"children":[],"genes":[{"symbol":"APOC2","name":"apolipoprotein C2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24589565[PMID]","hgnc":"609","ensembl":"ENSG00000234906","omim":"608083","loci":["19q13.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"25732519[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25732519[PMID]"}],"phenotypes":null}