{"orpha":209919,"name":"Idiopathic copper-associated cirrhosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Non-Wilsonian hepatic copper toxicosis of infancy and childhood"],"definition":"Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-209919/","orphanet_url":"https://www.orpha.net/en/disease/detail/209919","names":{"fr":{"name":"Cirrhose idiopathique associée au cuivre","synonyms":["Toxicose hépatique au cuivre du nourrisson et de l'enfant de type non-Wilson","Toxicose hépatique cuprique du nourisson et de l'enfant de type non-Wilson","Toxicose idiopathique au cuivre"],"definition":"Maladie hépatique rare caractérisée par une surcharge en cuivre. Elle se manifeste par une cirrhose hépatique à progression rapide dès les premières années de vie, conduisant à une insuffisance hépatique. Les résultats histopathologiques spécifiques sont les suivants : fibrose péricellulaire, infiltrats inflammatoires, nécrose des cellules hépatiques, absence de stéatose, régénération insuffisante et cuivre détectable par histochimie."},"de":{"name":"Leberzirrhose, idiopatische Kupfer-assoziierte","synonyms":["Hepatische Kupfertoxikose des Kindesalters (nicht-Wilson)","Idiopathische Kupfer-Zirrhose"],"definition":"Die Idiopathische Kupferzirrhose ist eine seltene, durch Kupfer-Überladung bedingte Lebererkrankung. Sie ist gekennzeichnet durch eine von den ersten Lebensjahren an schnell progrediente Leberzirrhose, die zur Leberinsuffizienz führt. Spezifische histopathologische Befunde sind: Perizelluläre Fibrose, entzündliche Infiltrate, Leberzellnekrose, Fehlen von Steatose, ungenügende Regeneration und histochemisch nachweisbares Kupfer."},"es":{"name":"Cirrosis idiopática asociada al cobre","synonyms":["Toxicosis hepática por cobre no Wilson infantil"],"definition":"La cirrosis idiopática asociada al cobre es una enfermedad rara del hígado por sobrecarga de cobre caracterizada por una cirrosis hepática rápidamente progresiva desde los primeros pocos años de vida que da lugar a una insuficiencia hepática, y alberga un aspecto patológico específico: fibrosis pericelular, infiltración inflamatoria, necrosis de hepatocitos, ausencia de esteatosis, escasa regeneración y tinción histoquímica con cobre."},"it":{"name":"Cirrosi idiopatica da rame","synonyms":["Tossicosi epatica da rame non-wilsoniana del periodo neonatale e dell'infanzia"],"definition":"La cirrosi idiopatica associata al rame è una malattia epatica rara da sovraccarico di rame, caratterizzata da cirrosi epatica a progressione rapida, dai primissimi anni di vita, che evolve in insufficienza epatica, caratterizzandosi per un peculiare aspetto anatomo-patologico: fibrosi pericellulare, infiltrazione infiammatoria, necrosi degli epatociti, assenza di steatosi, scarsa rigenerazione e colorazione istochimica del rame."},"nl":{"name":"Idiopathische kopergeassocieerde cirrose","synonyms":["Niet-Wilsoniaanse hepatische kopertoxicose bij baby's en kinderen"],"definition":"Een zeldzame aandoening van lever door koperstapeling, gekenmerkt door snel progressieve cirrose van lever vanaf de eerste levensjaren die leidt tot leverinsufficiëntie, en specifieke pathologische aspecten, met name pericellulaire fibrose, inflammatoire infiltratie, necrose van hepatocyten, afwezigheid van steatose, ondermaatse regeneratie, en histochemische kleuring van koper."},"pt":{"name":"Cirrose idiopática associada ao cobre"},"pl":{"name":"Idiopatyczna marskość wątroby związana z miedzią","synonyms":["Uszkodzenie wątroby przez miedź występujące u niemowląt i dzieci, nie związane z chorobą Wilsona"]},"cs":{"name":"Idiopatická toxikóza způsobená mědí","synonyms":["Newilsonovská dětská hepatická toxikóza z mědi"]},"uk":{"name":"Ідіопатичний мідь-асоційований цироз печінки","synonyms":["Невільсоновський печінковий мідний токсикоз немовлят та дітей раннього віку"],"definition":"Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining."},"zh":{"name":"特发性铜相关性肝硬化","synonyms":["非威尔逊型婴幼儿儿童肝性铜中毒"],"definition":"特发性铜相关肝硬化是一种罕见的铜超载性肝病，其主要临床表现为生后早期出现肝硬化，病情发展迅速，导致肝功能不全，并出现特异性病理学特征：细胞周围纤维化、炎性浸润、肝细胞坏死、无脂肪变性，再生障碍，组织化学铜染色。"},"tr":{"name":"İdiyopatik bakır -ilişkili siroz","synonyms":["Bebeklik ve çocukluk dönemi Wilsonyen olmayan hepatik bakır toksikozu"]}},"xrefs":[{"source":"OMIM","code":"215600","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K74.6","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"DB93.21","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1692504835"},{"source":"MONDO","code":"0016204","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274853","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":101939,"name":"Rare parenchymal liver disease","classifications":[183]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-12-07","source":"34321222[PMID]_21901654[PMID]_31161407[PMID]","terms":[{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0025321","label":"Copper accumulation in liver","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032254","label":"Increased circulating copper concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010839","label":"Increased urinary copper concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010837","label":"Decreased circulating ceruloplasmin concentration","frequency":"Excluded (0%)","criteria":null}]}}