{"orpha":535458,"name":"Familial GPIHBP1 deficiency","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency"],"definition":null,"note":"This disease is described under Familial chylomicronemia syndrome","url":"https://raremap.alftech.space/d/ORPHA-535458/","orphanet_url":"https://www.orpha.net/en/disease/detail/535458","names":{"fr":{"name":"Déficit familial en GPIHBP1","synonyms":["Déficit familial en protéine de liaison glycosylphosphatidylinositol HDL 1"]},"de":{"name":"GPIHBP1-Mangel, familiärer","synonyms":["Familiäre Glycosylphosphatidylinositol-verankertes High Density-Lipoprotein-Bindungsprotein-1-Defizienz","Familiärer GPI-verankertes HDL-Bindungsprotein 1-Mangel"]},"es":{"name":"Deficiencia familiar de GPIHBP1","synonyms":["Deficiencia familiar de la proteína 1 de unión a lipoproteinas de alta densidad anclada a glucosilfosfatidilinosito"]},"it":{"name":"Deficit familiare di GPIHBP1"},"nl":{"name":"Familiale GPIHBP1-deficiëntie","synonyms":["Familiale deficiëntie van glycosylfosfatidylinositol-verankerd hogedichtheidslipoproteïne-bindend proteïne 1"]},"pt":{"name":"Deficiência de GPIHBP1 familiar"},"pl":{"name":"Deficyt rodzinny GPIHBP1","synonyms":["Familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency"]},"cs":{"name":"Familiární deficit GPIHBP1","synonyms":["Familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency"]},"uk":{"name":"Сімейний дефіцит GPIHBP1","synonyms":["Сімейний дефіцит глікозилфосфатидилінозитол-звязуючого протеїну 1 ліпопротеїнів високої щільності"]},"zh":{"name":"家族性GPIHBP1基因缺乏症","synonyms":["家族性糖基磷脂酰肌醇固着性高密度脂蛋白结合蛋白1缺乏症"]},"tr":{"name":"Ailesel GPIHBP1 eksikliği","synonyms":["Ailesel glikozilfosfatidilinositol-bağlantılı yüksek yoğunluklu lipoprotein bağlayıcı protein 1 eksikliği"]}},"xrefs":[{"source":"OMIM","code":"615947","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E78.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014412","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":"GPIHBP1","name":"glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25732519[PMID]_29980054[PMID]","hgnc":"24945","ensembl":"ENSG00000277494","omim":"612757","loci":["8q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":10.0,"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}