{"orpha":727932,"name":"Hypocholesterolemia due to PCSK9 deficiency","type":"Biological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Hypocholesterolemia without low LDL cholesterol"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-727932/","orphanet_url":"https://www.orpha.net/en/disease/detail/727932","names":{"fr":{"name":"Hypocholestérolémie par déficit en PCSK9","synonyms":["Hypocholestérolémie sans faible taux de cholestérol LDL"]},"de":{"name":"Hypocholesterinämie durch PCSK9-Mangel","synonyms":["Hypocholesterinämie ohne niedriges LDL-Cholesterin"]},"es":{"name":"Hipocolesterolemia por deficiencia de PCSK9","synonyms":["Hipocolesterolemia sin niveles bajos de colesterol LDL"]},"it":{"name":"Ipocolesterolemia da deficit di PCSK9","synonyms":["Ipocolesterolemia senza livelli bassi di colesterolo LDL"]},"nl":{"name":"Hypocholesterolemie door PCSK9-deficiëntie","synonyms":["Hypocholesterolemie zonder laag LDL-cholesterol"]},"pt":{"name":"Hypocholesterolemia due to PCSK9 deficiency"},"pl":{"name":"Hypocholesterolemia due to PCSK9 deficiency","synonyms":["Hypocholesterolemia without low LDL cholesterol"]},"cs":{"name":"Hypocholesterolemia due to PCSK9 deficiency","synonyms":["Hypocholesterolemia without low LDL cholesterol"]}},"xrefs":[{"source":"OMIM","code":"603776","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":"PCSK9","name":"proprotein convertase subtilisin/kexin type 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18566665[PMID]","hgnc":"20001","ensembl":"ENSG00000169174","omim":"607786","loci":["1p32.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[],"phenotypes":null}