{"orpha":425,"name":"Apolipoprotein A-I deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ApoA-I deficiency","Familial apoA-I deficiency","Familial hypoalphalipoproteinemia"],"definition":"A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-425/","orphanet_url":"https://www.orpha.net/en/disease/detail/425","names":{"fr":{"name":"Déficit en apolipoprotéine A-I","synonyms":["Déficit en ApoA-I","Déficit familial en ApoA-I","Hypoalphalipoprotéinémie familiale"],"definition":"Le déficit en apolipoprotéine AI (Apo A-I) est un trouble rare du métabolisme des lipoprotéines, caractérisé au niveau biochimique par une absence complète en apolipoprotéine AI et un taux de lipoprotéine de haute densité (HDL) cholestérol plasmatique extrêmement bas. Au niveau clinique, il est caractérisé par des opacités cornéennes et des xanthomes, compliqués par une maladie cardiaque coronarienne (MCC) précoce."},"de":{"name":"Apolipoprotein A-I-Mangel","synonyms":["Apo A I-Mangel","Familiärer Apolipoprotein A-I-Mangel","Hypoalphalipoproteinämie, familiäre"],"definition":"Der Apolipoprotein AI (Apo A-I)-Mangel ist eine seltene Störung des Lipoprotein-Stoffwechsels und biochemisch charakterisiert durch das vollständige Fehlen des Apolipoproteins AI und extrem niedrige Plasmaspiegel von HDL (<i>high density lipoprotein</i>)-Cholesterin. Klinische Symptome sind: Hornhauttrübungen, Xanthome und verfrüht einsetzende koronare Herzkrankheit (CHD)."},"es":{"name":"Deficiencia de apolipoproteína A-I","synonyms":["Deficiencia de apoA-I","Deficiencia de apoA-I familiar","Hipoalfalipoproteinemia familiar"],"definition":"Es un trastorno poco frecuente del metabolismo de las liporpoteínas caracterizado bioquímicamente por la ausencia total de apolipoproteína A1 y una concentración extremadamente baja de lipoproteínas de alta densidad (HDL) en plasma, y clínicamente por opacidades corneales y xantomas complicados con enfermedad coronaria prematura."},"it":{"name":"Deficit di apolipoproteina A-I","synonyms":["Deficit familiare di apoA-I","Deficiti di ApoA-I","Ipoalfalipoproteinemia familiare"],"definition":"Il deficit di apolipoproteina AI (Apo A-I) è un difetto raro del metabolismo delle lipoproteine caratterizzato, dal punto di vista biochimico, dalla completa assenza dell'apolipoproteina AI e da livelli estremamente bassi di colesterolo lipoproteico ad alta densità (HDL) e, dal punto di vista clinico, da opacità corneali e xantomi complicati dalla cardiopatia coronarica (CHD) prematura."},"nl":{"name":"Apolipoproteïne A-I-deficiëntie","synonyms":["ApoA-I-deficiëntie","Familiale apoA-I-deficiëntie","Familiale hypoalfalipoproteïnemie"],"definition":"Een zeldzame stoornis van het lipoproteïnemetabolisme, biochemisch gekarakteriseerd door volledige afwezigheid van apolipoproteïne A-I en extreem lage gehaltes van cholesterol gebonden aan lipoproteïne met hoge densiteit (HDL) in plasma, en klinisch door hoornvliestroebelingen en xanthomen gecompliceerd door premature coronaire hartziekte (CHD)."},"pt":{"name":"Deficiência de apolipoproteina A-I","synonyms":["Deficiência de apoA-I","Deficiência de apoA-I familiar","Hipoalfalipoproteinemia familiar"]},"pl":{"name":"Niedobór apolipoproteiny A-I","synonyms":["Hipoalfalipoproteinemia rodzinna","Niedobór ApoA-I","Rodzinny Niedobór apoA-I"]},"cs":{"name":"Deficit apolipoproteinu A-I","synonyms":["Deficit apoA-I","Familiární deficit apoA-I","Familiární hypoalfalipoproteinémie"]},"uk":{"name":"Дефіцит аполіпопротеїну A-I","synonyms":["Дефіцит ApoA-I","Сімейний дефіцит апоА-I","Сімейна гіпоальфаліпопротеїнемія"],"definition":"A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD)."},"zh":{"name":"载脂蛋白A-Ⅰ缺乏","synonyms":["家族性低α脂蛋白血症"]},"tr":{"name":"Apolipoprotein A-I eksikliği","synonyms":["ApoA-I eksikliği","Ailesel apoA-I eksikliği","Ailesel hipoalfalipoproteinemi"]}},"xrefs":[{"source":"OMIM","code":"604091","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618463","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E78.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C81.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"104825191"},{"source":"MONDO","code":"0100189","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342898","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2872","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10065133","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":31153,"name":"Hypoalphalipoproteinemia","classifications":[150,156,193]}],"children":[],"genes":[{"symbol":"ABCA1","name":"ATP binding cassette subfamily A member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15158913[PMID]_22959828[PMID]","hgnc":"29","ensembl":"ENSG00000165029","omim":"600046","loci":["9q31.1"]},{"symbol":"APOA1","name":"apolipoprotein A1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8240372[PMID]_8282791[PMID]","hgnc":"600","ensembl":"ENSG00000118137","omim":"107680","loci":["11q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"17991756[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2014[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-10-29","source":"28178939[PMID]_31003938[PMID]_32022753[PMID]","terms":[{"hpo":"HP:0003119","label":"Abnormal circulating lipid concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002621","label":"Atherosclerosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003233","label":"Decreased HDL cholesterol concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007759","label":"Opacification of the corneal stroma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001681","label":"Angina pectoris","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000622","label":"Blurred vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005181","label":"Premature coronary artery atherosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001114","label":"Xanthelasma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000991","label":"Xanthomatosis","frequency":"Frequent (79-30%)","criteria":null}]}}