{"orpha":727915,"name":"APOB-related familial hypobetalipoproteinemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["APOB-FHBL","Homozygous familial hypobetalipoproteinemia","Apolipoprotein B deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-727915/","orphanet_url":"https://www.orpha.net/en/disease/detail/727915","names":{"fr":{"name":"Hypobêtalipoprotéinémie familiale associée à APOB","synonyms":["Hypobêtalipoprotéinémie familiale homozygote","Déficit en apolipoprotéine B"]},"de":{"name":"APOB-assoziierte familiäre Hypobetalipoproteinämie","synonyms":["APOB-FHBL","Apolipoprotein-B-Mangel","Homozygote familiäre Hypobetalipoproteinämie"]},"es":{"name":"Hipobetalipoproteinemia familiar asociada al gen APOB","synonyms":["APOB-FHBL","Deficiencia de apolipoproteína B","Hipobetalipoproteinemia familiar homocigótica"]},"it":{"name":"Ipobetalipoproteinemia familiare correlata ad APOB","synonyms":["APOB-FHBL","Deficienza di apolipoproteina B","Ipobetalipoproteinemia familiare omozigote"]},"nl":{"name":"APOB-gerelateerde familiale hypobètalipoproteïnemie","synonyms":["APOB-FHBL","Deficiëntie van apolipoproteïne B","Homozygote familiale hypobètalipoproteïnemie"]},"pt":{"name":"APOB-related familial hypobetalipoproteinemia"},"pl":{"name":"APOB-related familial hypobetalipoproteinemia","synonyms":["APOB-FHBL","Homozygous familial hypobetalipoproteinemia","Apolipoprotein B deficiency"]},"cs":{"name":"APOB-related familial hypobetalipoproteinemia","synonyms":["APOB-FHBL","Homozygous familial hypobetalipoproteinemia","Apolipoprotein B deficiency"]}},"xrefs":[{"source":"OMIM","code":"615558","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":363306,"name":"Genetic intestinal disease due to fat malabsorption","classifications":[156]},{"orpha":31154,"name":"Hypobetalipoproteinemia","classifications":[150,156,193]},{"orpha":104005,"name":"Intestinal disease due to fat malabsorption","classifications":[152]},{"orpha":101940,"name":"Rare metabolic liver disease","classifications":[156,183]}],"children":[],"genes":[{"symbol":"APOB","name":"apolipoprotein B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33983694[PMID]_40155282[PMID]_21874758[PMID]","hgnc":"603","ensembl":"ENSG00000084674","omim":"107730","loci":["2p24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"40155282[PMID]_ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"40155282[PMID]"}],"phenotypes":null}