{"orpha":530849,"name":"Familial apolipoprotein A5 deficiency","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Familial APOA5 deficiency","Familial apolipoprotein A-V deficiency"],"definition":null,"note":"This disease is described under Familial chylomicronemia syndrome","url":"https://raremap.alftech.space/d/ORPHA-530849/","orphanet_url":"https://www.orpha.net/en/disease/detail/530849","names":{"fr":{"name":"Déficit familial en apolipoprotéine A5","synonyms":["Déficit familial en apolipoprotéine A-V"]},"de":{"name":"Familiärer Apolipoprotein A5-Mangel","synonyms":["Familiäre APOA5-Defizienz","Familiäre Apolipoprotein-A-V-Defizienz","Familiärer APOA5-Mangel","Familiärer Apolipoprotein A-V-Mangel"]},"es":{"name":"Deficiencia de apolipoproteína A5 familiar","synonyms":["Deficiencia de APOA5 familiar","Deficiencia de apolipoproteína A-V familiar"]},"it":{"name":"Chilomicronemia familiare a esordio nell'età adulta"},"nl":{"name":"Familiale apolipoproteïne A5-deficiëntie","synonyms":["Familiale APOA5-deficiëntie","Familiale apolipoproteïne A-V-deficiëntie"]},"pt":{"name":"Deficiência de apolipoproteína A5 familiar"},"pl":{"name":"Niedobór rodzinny apolipoproteiny A5","synonyms":["Rodzinny niedobór APOA5"]},"cs":{"name":"Familiární deficit apolipoproteinu A5","synonyms":["Familial APOA5 deficiency","Familial apolipoprotein A-V deficiency"]},"uk":{"name":"Сімейний дефіцит аполіпопротеїну А5","synonyms":["Сімейний дефіцит APOA5","Сімейний дефіцит аполіпопротеїнів A-V"]},"zh":{"name":"家族性载脂蛋白A5缺乏症","synonyms":["Familial apolipoprotein A-V deficiency"]},"tr":{"name":"Ailesel apolipoprotein A5 eksikliği","synonyms":["Ailesel APOA5 eksikliği","Ailesel apolipoprotein A-V eksikliği"]}},"xrefs":[{"source":"OMIM","code":"144650","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"145750","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E78.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007762","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680141","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6704","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":"APOA5","name":"apolipoprotein A5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25732519[PMID]_29980054[PMID]","hgnc":"17288","ensembl":"ENSG00000110243","omim":"606368","loci":["11q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25732519[PMID]"},{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"25732519[PMID]"}],"phenotypes":null}