{"orpha":535453,"name":"Familial lipase maturation factor 1 deficiency","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Familial LMF1 deficiency"],"definition":null,"note":"This disease is described under Familial chylomicronemia syndrome","url":"https://raremap.alftech.space/d/ORPHA-535453/","orphanet_url":"https://www.orpha.net/en/disease/detail/535453","names":{"fr":{"name":"Déficit familial en LMF1","synonyms":["Déficit familial en facteur 1 de maturation de la lipase"]},"de":{"name":"Familiärer Lipase-Reifungsfaktor 1-Mangel","synonyms":["Familiäre LMF1-Defizienz","LMF1-Mangel, familiärer"]},"es":{"name":"Deficiencia familiar del factor de maduración de lipasa 1","synonyms":["Deficiencia familiar de LMF1"]},"it":{"name":"Deficit familiare del fattore 1 di maturazione della lipasi"},"nl":{"name":"Familiale lipase-maturatiefactor 1-deficiëntie","synonyms":["Familiale LMF1-deficiëntie"]},"pt":{"name":"Deficiência do factor 1 de maturação da lipase familiar"},"pl":{"name":"Niedobór rodzinny czynnika 1 dojrzewania lipazy","synonyms":["Rodzinny niedobór LMF1"]},"cs":{"name":"Familiární deficit lipázového maturačního faktoru 1","synonyms":["Familial LMF1 deficiency"]},"uk":{"name":"Сімейний дефіцит фактора дозрівання ліпази 1","synonyms":["Сімейний дефіцит LMF1"]},"zh":{"name":"家族性脂肪酶成熟因子1缺乏症","synonyms":["家族性LMF1缺乏症"]},"tr":{"name":"Ailesel lipaz olgunlaşma faktörü 1 eksikliği","synonyms":["Ailesel LMF1 eksikliği"]}},"xrefs":[{"source":"OMIM","code":"246650","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E78.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009527","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855498","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10244","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":"LMF1","name":"lipase maturation factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25732519[PMID]_29980054[PMID]","hgnc":"14154","ensembl":"ENSG00000103227","omim":"611761","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"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}