{"orpha":727925,"name":"Familial combined hypolipidemia","type":"Biological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Angiopoietin-like 3 deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-727925/","orphanet_url":"https://www.orpha.net/en/disease/detail/727925","names":{"fr":{"name":"Hypolipémie familiale combinée","synonyms":["Déficit en angiopoïétine-like 3"]},"de":{"name":"Familiäre kombinierte Hypolipidämie","synonyms":["Angiopoetin-ähnliches Protein 3-Mangel"]},"es":{"name":"Hipolipidemia combinada familiar","synonyms":["Deficiencia similar a angiopoyetina 3"]},"it":{"name":"Ipolipidemia combinata familiare","synonyms":["Deficit simile all’angiopoietina 3"]},"nl":{"name":"Familiale gecombineerde hypolipidemie","synonyms":["Deficiëntie van angiopoëtine-achtig eiwit 3"]},"pt":{"name":"Familial combined hypolipidemia"},"pl":{"name":"Familial combined hypolipidemia","synonyms":["Angiopoietin-like 3 deficiency"]},"cs":{"name":"Familial combined hypolipidemia","synonyms":["Angiopoietin-like 3 deficiency"]}},"xrefs":[{"source":"OMIM","code":"605019","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":31154,"name":"Hypobetalipoproteinemia","classifications":[150,156,193]}],"children":[],"genes":[{"symbol":"ANGPTL3","name":"angiopoietin like 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22062970[PMID]_22659251[PMID]","hgnc":"491","ensembl":"ENSG00000132855","omim":"604774","loci":["1p31.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}