{"orpha":209902,"name":"Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare sterol metabolism disorder characterized by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertriglyceridemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-209902/","orphanet_url":"https://www.orpha.net/en/disease/detail/209902","names":{"fr":{"name":"Hypercholestérolémie par déficit en cholesterol 7alpha-hydroxylase","definition":"Anomalie rare du métabolisme des stérols caractérisée par une augmentation du taux sérique de cholestérol LDL (qui résiste au traitement par les inhibiteurs de la 3-hydroxy-3-méthylglutaryl-coenzyme A réductase), une hypertriglycéridémie et une diminution du taux d'excrétion d'acides biliaires, résultant d'un déficit en cholestérol 7alpha-hydroxylase. Une cholélithiase et/ou une maladie coronarienne et vasculaire périphérique précoce(s) sont fréquemment associées."},"de":{"name":"Hypercholesterinämie durch Cholesterol 7-alpha-Hydroxylase-Mangel","definition":"Eine seltene Störung des Lipidstoffwechsels, die durch erhöhte Serum-LDL-Cholesterinspiegel (resistent gegen Behandlung mit 3-Hydroxy-3-methylglutaryl-Coenzym-A-Reduktase-Hemmern), Hypertriglyzeridämie und verminderte Gallensäurenausscheidung gekennzeichnet ist und auf einem Mangel an Cholesterin-7-alpha-Hydroxylase beruht. Häufig treten Gallensteine und/oder koronare und periphere Gefäßerkrankungen auf."},"es":{"name":"Hipercolesterolemia por deficiencia de colesterol 7-alfa-hidroxilasa","definition":"Es un trastorno poco frecuente del metabolismo de los esteroles caracterizado por un aumento de los niveles séricos de colesterol LDL (resistentes al tratamiento con inhibidores de la 3-hidroxi-3-metilglutaril-coenzima A reductasa), hipertrigliceridemia y disminución de la tasa de excreción de ácidos biliares, como resultado de la deficiencia de colesterol 7-alfa-hidroxilasa. Suele asociar enfermedad precoz de cálculos biliares y/o enfermedad arterial periférica y coronaria."},"it":{"name":"Ipercolesterolemia da deficit di colesterolo 7alfa-idrossilasi","definition":"L'ipercolesterolemia da deficit di colesterolo 7alfa-idrossilasi è una malattia genetica rara del metabolismo degli steroli, caratterizzata da un aumento dei livelli di colesterolo LDL nel siero (resistente al trattamento con gli inibitori della 3-idrossi-3-metilglutaril-coenzima A reduttasi), ipertrigliceridemia e livelli bassi di acidi biliari, secondari al deficit di colesterolo 7-alfa-idrossilasi. Spesso si associa a calcoli biliari precoci e/o a malattia vascolare coronarica e periferica ad esordio precoce."},"nl":{"name":"Hypercholesterolemie door deficiëntie van cholesterol-7-alfa-hydroxylase","definition":"Een zeldzame stoornis van sterolmetabolisme, gekenmerkt door verhoogde gehaltes van LDL-cholesterol in serum (die resistent zijn tegen behandeling met remmers van 3-hydroxy-3-methylglutaryl-co-enzym A-reductase), hypertriglyceridemie, en een verminderde snelheid van excretie van galzuur, als gevolg van deficiëntie van cholesterol 7-alfa-hydroxylase. Premature galsteenziekte en/of premature coronaire en perifere vasculaire ziekte zijn vaak geassocieerd."},"pt":{"name":"Hipercolesterolemia por deficiência da colesterol 7alfa-hidroxilase","definition":"Patologia rara do metabolismo do esterol caracterizada por aumento dos níveis séricos de colesterol LDL (que são resistentes à terapêutica com inibidores da 3-hidroxi-3-metilglutaril-coenzima A redutase), hipertrigliceridemia e diminuição da taxa de excreção dos ácidos biliares, como resultado de deficiência da 7alfa-hidroxilase do colesterol. Estão frequentemente associadas doença biliar prematura e/ou doença coronária e vascular periférica prematura."},"pl":{"name":"Hipercholesterolemia z powodu niedoboru 7alfa-hydroksylazy cholesterolu","definition":"*Hipercholesterolemia z powodu niedoboru 7alfa-hydroksylazy cholesterolu jest rzadkim, genetycznie uwarunkowanym zaburzeniem metabolizmu steroli, który charakteryzuje się podwyższonym stężeniem frakcji cholesterolu LDL w surowicy (wykazuje oporność na leczenie inhibitorami reduktazy 3-hydroksy-3-metyloglutarylo-koenzymu A), hipertriglicerydemią i zmniejszonym współczynnikiem wydzielania kwasów żółciowych, wynikającym z niedoboru 7alfa-hydroksylazy cholesterolu. Często towarzyszy przedwczesna kamica żółciowa i/lub przedwczesna choroba naczyń wieńcowych i obwodowych."},"cs":{"name":"Hypercholesterolémie způsobená deficitem cholesterol 7alfa-hydroxylázy"},"uk":{"name":"Гіперхолестеринемія внаслідок дефіциту холестерол 7-альфа-гідроксилази","definition":"A rare sterol metabolism disorder characterized by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertriglyceridemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated."},"zh":{"name":"胆固醇7α-羟化酶缺陷所致高胆固醇血症","definition":"胆固醇7α羟化酶缺乏所致高胆固醇血症是一种罕见的遗传性固醇代谢紊乱，由于胆固醇7α羟化酶缺乏所致，其主要临床表现为血清LDL胆固醇水平升高（对3-羟基-3-甲基戊二酰辅酶A还原酶抑制剂的治疗有效）、高胆固醇血症和胆汁酸排泄率降低。该病与早发性胆石症和（或）冠状动脉和外周血管疾病常有关。"},"tr":{"name":"Kolesterol 7 alfa-hidroksilaz eksikliğine bağlı hiperkolesterolemi"}},"xrefs":[{"source":"ICD-10","code":"E78.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C80.00","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016203","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751204","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":79168,"name":"Disorder of bile acid synthesis","classifications":[150,156]},{"orpha":477811,"name":"Rare hypercholesterolemia","classifications":[150,156,193]}],"children":[],"genes":[{"symbol":"CYP7A1","name":"cytochrome P450 family 7 subfamily A member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12093894[PMID]","hgnc":"2651","ensembl":"ENSG00000167910","omim":"118455","loci":["8q12.1"]}],"genes_via_subtypes":[],"inheritance":["Semi-dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":24.0,"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":{"validation_status":"y","online":"y","validation_date":"2016-03-02","source":"11967256[PMID]_2384150[PMID]_12093894[PMID]_12093884[PMID]","terms":[{"hpo":"HP:0006573","label":"Acute hepatic steatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001396","label":"Cholestasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011980","label":"Cholesterol gallstones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003124","label":"Hypercholesterolemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003141","label":"Increased LDL cholesterol concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001403","label":"Macrovesicular hepatic steatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008372","label":"Abnormality of vitamin A metabolism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100514","label":"Abnormality of vitamin E metabolism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004943","label":"Accelerated atherosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012397","label":"Aortic atherosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001677","label":"Coronaryartery atherosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null}]}}