{"orpha":238475,"name":"Familial hypercholanemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hereditary hypercholanemia"],"definition":"Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-238475/","orphanet_url":"https://www.orpha.net/en/disease/detail/238475","names":{"fr":{"name":"Hypercholanémie familiale","synonyms":["Hypercholanémie héréditaire"],"definition":"Maladie génétique très rare caractérisée sur le plan clinique par des taux sériques élevées d'acides biliaires, des démangeaisons et une malabsorption des graisses, rapportée chez des patients d'ascendance amish traditionnelle (Amish de l'Ancien Ordre)."},"de":{"name":"Hypercholanämie, familiäre","synonyms":["Hypercholanämie, hereditäre"],"definition":"Die Familiäre Hypercholanämie ist eine sehr seltene genetische Störung mit erhöhten Serum-Konzentrationen der Gallensäuren, mit Juckreiz und Fett-Malabsorption. Die beschriebenen Patienten kamen aus der Gruppe der Old Order Amish."},"es":{"name":"Hipercolanemia familiar","synonyms":["Hipercolanemia hereditaria"],"definition":"La hipercolanemia familiar es un trastorno genético muy poco frecuente que se caracteriza clínicamente por concentraciones séricas elevadas de ácidos biliares, picazón, y malabsorción de grasas. Ha sido descrita en pacientes descendientes de la Vieja Orden Amish."},"it":{"name":"Ipercolanemia familiare","synonyms":["Ipercolanemia ereditaria"],"definition":"L'ipercolanemia familiare è una malattia genetica molto rara, caratterizzata da concentrazioni elevate di acidi biliari nel siero, prurito e malassorbimento dei grassi; è stata descritta in pazienti discendenti dagli Amish del Vecchio Ordine."},"nl":{"name":"Familiale hypercholanemie","synonyms":["Erfelijke hypercholanemie"],"definition":"Een zeer zeldzame, genetische aandoening, klinisch gekenmerkt door verhoogde concentraties van galzuur in serum, jeuk, en malabsorptie van vet, gerapporteerd bij patiënten afkomstig van de Old Order Amish."},"pt":{"name":"Hipercolanemia familiar"},"pl":{"name":"Rodzinna hipercholanemia/podwyższone stężenie kwasów żółciowych w osoczu","synonyms":["Dziedziczna hipercholanemia"]},"cs":{"name":"Familiární hypercholanemie","synonyms":["Hereditární hypercholanemie"]},"uk":{"name":"Сімейна гіперхоланемія","synonyms":["Спадкова гіперхоланемія"],"definition":"Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent."},"zh":{"name":"家族性高胆烷血症","synonyms":["遗传性高胆烷血症"],"definition":"家族性高胆固醇血症是一种非常罕见的遗传性疾病，临床上表现为血清胆汁酸浓度升高、瘙痒和脂肪吸收障碍（在阿米什人中被报道）。"},"tr":{"name":"Ailesel hiperkolanemi","synonyms":["Kalıtsal hiperkolanemi"]}},"xrefs":[{"source":"OMIM","code":"607748","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619232","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619256","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K76.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C52.11","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"31446","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1843139","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":163631,"name":"Bile acid synthesis defect with cholestasis and malabsorption","classifications":[150,156,183,233]}],"children":[],"genes":[{"symbol":"BAAT","name":"bile acid-CoA:amino acid N-acyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12704386[PMID]","hgnc":"932","ensembl":"ENSG00000136881","omim":"602938","loci":["9q31.1"]},{"symbol":"EPHX1","name":"epoxide hydrolase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12878321[PMID]_25992604[PMID]","hgnc":"3401","ensembl":"ENSG00000143819","omim":"132810","loci":["1q42.12"]},{"symbol":"SLC10A1","name":"solute carrier family 10 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28835676[PMID]","hgnc":"10905","ensembl":"ENSG00000100652","omim":"182396","loci":["14q24.1"]},{"symbol":"SLC10A5","name":"solute carrier family 10 member 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"38986003[PMID]","hgnc":"22981","ensembl":null,"omim":null,"loci":["8q21.13"]},{"symbol":"TJP2","name":"tight junction protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12704386[PMID]","hgnc":"11828","ensembl":"ENSG00000119139","omim":"607709","loci":["9q21.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":23.0,"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}