{"orpha":163,"name":"Hereditary hyperferritinemia-cataract syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HHCS","Hereditary hyperferritinemia with cataracts","Hereditary hyperferritinemia-cataract disease"],"definition":"A rare genetic disease characterized by the association of early onset cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-163/","orphanet_url":"https://www.orpha.net/en/disease/detail/163","names":{"fr":{"name":"Syndrome d'hyperferritinémie-cataracte héréditaire","synonyms":["HHCS","Maladie d'hyperferritinémie-cataracte héréditaire"],"definition":"Maladie génétique rare caractérisée par l'association d'une cataracte précoce et d'une persistance de concentrations élevées de ferritine plasmatique en l'absence de surcharge en fer."},"de":{"name":"Hereditäre Hyperferritinämie-Katarakt-Syndrom","synonyms":["HHCS","Hyperferritinämie, hereditäre, mit kongenitaler Katarakt"],"definition":"Eine seltene genetische Erkrankung, die durch die Kombination von früh einsetzendem Katarakt mit anhaltend erhöhten Plasmaferritin-Konzentrationen bei fehlender Eisenüberladung gekennzeichnet"},"es":{"name":"Síndrome de hiperferritinemia hereditaria-catarata","synonyms":["Enfermedad de hiperferritinemia hereditaria-cataratas","HHCS","Hiperferritinemia hereditaria con cataratas"],"definition":"Es una enfermedad genética poco frecuente caracterizada por la asociación de cataratas de inicio precoz con concentraciones persistentemente elevadas de ferritina plasmática en ausencia de sobrecarga de hierro."},"it":{"name":"Sindrome iperferritinemia ereditaria-cataratta","synonyms":["HHCS","Iperferritinemia ereditaria con cataratta","Iperferritinemia ereditaria-cataratta","Sindrome di Bonneau-Beaumont","Sindrome iperferritinemia ereditaria-cataratta"]},"nl":{"name":"Hereditaire hyperferritinemie - cataract-syndroom","synonyms":["HHCS","Hereditaire hyperferritinemie - cataract-ziekte","Hereditaire hyperferritinemie met cataract"],"definition":"Een zeldzame genetische aandoening, gekenmerkt door de associatie van vroeg optredend cataract met aanhoudend verhoogde concentraties van ferritine in plasma in afwezigheid van ijzerstapeling."},"pt":{"name":"Síndrome de hiperferritinemia hereditária-catarata","synonyms":["Doença de hiperferritinemia hereditária-catarata","HHCS","Hiperferritinemia hereditária com cataratas"],"definition":"Doença genética rara caracterizada pela associação de catarata de início precoce com concentrações plasmáticas persistentemente elevadas de ferritina na ausência de sobrecarga de ferro."},"pl":{"name":"Hiperferrytynemia dziedziczna z wrodzoną zaćmą","synonyms":["HHCS","Zespół hiperferrytemia dziedziczna-zaćma","Zespół Bonneau i Beaumont","Dziedziczny zespół hiperferrytynemii i zaćmy"]},"cs":{"name":"Dědičná hyperferitinémie s vrozenou kataraktou","synonyms":["HHCS","Bonneauův-Beaumontové syndrom","Syndrom zahrnující dědičnou hyperferitinémii a kataraktu","Bonneau-Beaumontové syndrom"]},"uk":{"name":"Синдром спадкової гіперферритинемії - катаракти","synonyms":["Спадкова гіперферритинемія з катарактою","Спадкова гіперферритинемія - катаракта","HHCS"],"definition":"A rare genetic disease characterized by the association of early onset cataract with persistently raised plasma ferritin concentrations in the absence of iron overload."},"zh":{"name":"遗传性高铁蛋白血症-白内障综合征","synonyms":["遗传性高铁蛋白血症伴先天性白内障"]},"tr":{"name":"Kalıtsal hiperferritinemi-katarakt sendromu","synonyms":["HHCS","Bonneau-Beaumont sendromu","Doğumsal kataraktlı kalıtsal hiperferritinemi"]}},"xrefs":[{"source":"OMIM","code":"600886","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H26.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B10.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0010952","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538137","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1833213","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2806","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":309842,"name":"Disorder of iron metabolism and transport","classifications":[150,156]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"FTL","name":"ferritin light chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"10759702[PMID]","hgnc":"3999","ensembl":"ENSG00000087086","omim":"134790","loci":["19q13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":120.0,"area":"Worldwide","status":"Validated","source":"34789084[PMID]_36287435[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"34789084[PMID]_36287435[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001939","label":"Abnormality of metabolism/homeostasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null}]}}