{"orpha":168583,"name":"Hereditary North American Indian childhood cirrhosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-168583/","orphanet_url":"https://www.orpha.net/en/disease/detail/168583","names":{"fr":{"name":"Cirrhose héréditaire des enfants indiens d'Amérique du Nord","definition":"Cholestase intrahépatique grave, transmise selon le mode autosomique récessif décrite uniquement chez les enfants originaires des populations autochtones du nord-ouest du Québec. La maladie se manifeste d'abord par un ictère néonatal transitoire. Pendant la période allant de l'enfance à l'adolescence, elle évolue vers une fibrose périportale et une cirrhose."},"de":{"name":"Hereditäre infantile Zirrhose der nordamerikanischen Indianer","definition":"Die Hereditäre infantile Zirrhose der nordamerikanischen Indianer ist eine schwere, autosomal-rezessiv vererbte intrahepatische Cholestase, die nur bei Kindern der Ureinwohner im Nordwesten Quebecs beschrieben wurde. Die Krankheit manifestiert sich zuerst als transienter Neugeborenen-Ikterus. Von der Kindheit bis zur Adoleszenz entwickelt sie sich zur periportalen Fibrose und Zirrhose."},"es":{"name":"Cirrosis hereditaria de los niños indios de América del Norte","definition":"La cirrosis hereditaria de los niños indios de Norteamérica es una colestasis intrahepática autosómica recesiva grave que tan solo ha sido descrita en niños aborígenes del noroeste de Quebec. Manifestándose primero como una ictericia neonatal transitoria, la enfermedad evoluciona a una fibrosis periportal y a cirrosis durante un periodo que va desde la infancia hasta la adolescencia."},"it":{"name":"Cirrosi infantile ereditaria degli Indiani del Nord America","definition":"La cirrosi infantile ereditaria degli indiani del Nord America è una grave colestasi intraepatica autosomica recessiva, descritta esclusivamente nei bambini aborigeni del Quebec nord-occidentale. La malattia si presenta inizialmente con un ittero neonatale transitorio ed evolve in una fibrosi e cirrosi periportale in un periodo che va dall'infanzia all'adolescenza."},"nl":{"name":"Erfelijke cirrose op kinderleeftijd bij Noord-Amerikaanse Indianen","definition":"Een ernstige autosomaal recessieve intrahepatische cholestase, uitsluitend beschreven bij kinderen van de inheemse bevolking in het noordwesten van Quebec. De ziekte manifesteert zich eerst als transiënte neonatale geelzucht, en evolueert dan naar periportale fibrose en cirrose gedurende een periode gaande van de kindertijd tot adolescentie."},"pt":{"name":"Cirrose infantil hereditária em índios norte-americanos"},"pl":{"name":"Dziedziczna marskość wątroby u Indian Ameryki Północnej"},"cs":{"name":"Dědičná forma cirhózy dětí severoamerických indiánů"},"uk":{"name":"Спадковий дитячий цироз печінки північноамериканських індіанців","definition":"Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence."},"zh":{"name":"遗传性北美印第安人儿童肝硬化","definition":"遗传性北美洲儿童肝硬化是一种重度肝内胆汁淤积症，仅在魁北克西北部的土著儿童中有过报道，多以常染色体隐性遗传。首发症状为一过性的新生儿黄疸，在儿童期到青春期，该病演变为门静脉周围纤维化和肝硬化。"},"tr":{"name":"Kalıtsal Kuzey Amerika Kızılderili çocukluk sirozu"}},"xrefs":[{"source":"OMIM","code":"604901","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K74.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DB93.20","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1992710077"},{"source":"MONDO","code":"0011497","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565737","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1858051","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":172,"name":"Progressive familial intrahepatic cholestasis","classifications":[150,156,183,233]}],"children":[],"genes":[{"symbol":"UTP4","name":"UTP4 small subunit processome component","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12417987[PMID]","hgnc":"1983","ensembl":"ENSG00000141076","omim":"607456","loci":["16q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":36.0,"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}