{"orpha":309015,"name":"Familial lipoprotein lipase deficiency","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["LPL deficiency"],"definition":null,"note":"This disease is described under Familial chylomicronemia syndrome","url":"https://raremap.alftech.space/d/ORPHA-309015/","orphanet_url":"https://www.orpha.net/en/disease/detail/309015","names":{"fr":{"name":"Déficit familial en lipoprotéine lipase","synonyms":["Déficit en LPL"]},"de":{"name":"Lipoprotein-Lipase-Mangel, familiärer","synonyms":["LPL-Mangel"]},"es":{"name":"Deficiencia familiar de lipoproteína lipasa","synonyms":["Deficiencia de LPL"]},"it":{"name":"Deficit familiare di lipoproteina lipasi","synonyms":["Deficit di LPL"]},"nl":{"name":"Familiale deficiëntie van lipoproteïnelipase","synonyms":["LPL-deficiëntie"]},"pt":{"name":"Défice de lipoproteina lipase, forma familiar"},"pl":{"name":"Rodzinny Niedobór lipazy lipoproteinowej","synonyms":["Niedobór Lpl"]},"cs":{"name":"Familiární deficit lipoproteinové lipázy","synonyms":["Deficit LPL"]},"uk":{"name":"Сімейний дефіцит ліпопротеїнліпази","synonyms":["Дефіцит LPL"]},"zh":{"name":"家族性脂蛋白脂酶缺乏症","synonyms":["脂蛋白脂酶缺乏症"]},"tr":{"name":"Ailesel lipoprotein lipaz eksikliği","synonyms":["LPL eksikliği"]}},"xrefs":[{"source":"OMIM","code":"144250","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"238600","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":"1829539217"},{"source":"MONDO","code":"0009387","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12241","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":"LPL","name":"lipoprotein lipase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24589565[PMID]","hgnc":"6677","ensembl":"ENSG00000175445","omim":"609708","loci":["8p21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"United States","status":"Validated","source":"20301485[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}