{"orpha":648569,"name":"Non-HFE-related hemochromatosis","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A group of genetic disorders of iron overload comprising the rarer forms of hemochromatosis (HC), characterized by a phenotype of severe tissue iron deposition. These rare forms are HJV or HAMP-related hemochromatosis, TFR2-related hemochromatosis and SLC40A1-related hemochromatosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-648569/","orphanet_url":"https://www.orpha.net/en/disease/detail/648569","names":{"fr":{"name":"Hémochromatose non associée à HFE","definition":"Groupe de maladies génétiques de surcharge en fer comprenant les formes les plus rares d'hémochromatose (HC), caractérisées par un phénotype sévère de dépôt de fer dans les tissus. Ces formes rares sont l'hémochromatose associée à <i>HJV</i> ou à <i>HAMP</i>, l'hémochromatose associée à <i>TFR2</i> et l'hémochromatose associée à <i>SLC40A1</i>."},"de":{"name":"Hämochromatose, nicht-HFE-assoziierte","definition":"Eine Gruppe genetisch bedingter Störungen mit Eisenüberladung, zu der die selteneren Formen der Hämochromatose (HC) gehören, die durch einen Phänotyp schwerer Eisenablagerungen im Gewebe gekennzeichnet sind. Diese seltenen Formen sind die HJV- oder HAMP-assoziierte Hämochromatose, die TFR2-assoziierte Hämochromatose und die SLC40A1-assoziierte Hämochromatose."},"es":{"name":"Hemocromatosis no asociada a HFE","definition":"Es un grupo de trastornos genéticos de sobrecarga de hierro que comprende las formas menos frecuentes de hemocromatosis (HC), caracterizadas por un fenotipo grave de depósito tisular de hierro. Estas formas de baja prevalencia son la hemocromatosis asociada a HJV o a HAMP, la hemocromatosis asociada a TFR2 y la hemocromatosis asociada a SLC40A1."},"it":{"name":"Emocromatosi non correlata a HFE"},"nl":{"name":"Niet-HFE-gerelateerde hemochromatose","definition":"Een groep van genetische aandoeningen met ijzerstapeling bestaande uit de zeldzamere vormen van hemochromatose (HC), gekenmerkt door een fenotype van ernstige depositie van ijzer in weefsels. Deze zeldzame vormen zijn HJV- of HAMP-gerelateerde hemochromatose, TFR2-gerelateerde hemochromatose en SLC40A1-gerelateerde hemochromatose."},"pt":{"name":"Hemocromatose não-relacionada a HFE","definition":"Grupo de doenças genéticos de sobrecarga de ferro que compreende as formas mais raras de hemocromatose (HC), caracterizadas por um fenótipo de deposição grave de ferro nos tecidos. Estas formas raras são a hemocromatose relacionada com o HJV ou o HAMP, a hemocromatose relacionada com o TFR2 e a hemocromatose relacionada com o SLC40A1."},"pl":{"name":"Hemochromatoza niezwiązana z HFE"},"cs":{"name":"Hemochromatóza nesouvisející s HFE"},"uk":{"name":"Гемохроматоз, не повязаний з HFE","definition":"A group of genetic disorders of iron overload comprising the rarer forms of hemochromatosis (HC), characterized by a phenotype of severe tissue iron deposition. These rare forms are HJV or HAMP-related hemochromatosis, TFR2-related hemochromatosis and SLC40A1-related hemochromatosis."}},"xrefs":[{"source":"UMLS","code":"C5816745","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":220489,"name":"Rare hereditary hemochromatosis","classifications":[150,156,183,233]}],"children":[{"orpha":79230,"name":"HJV or HAMP-related hemochromatosis","type":"Disease"},{"orpha":647834,"name":"SLC40A1-related hemochromatosis","type":"Disease"},{"orpha":225123,"name":"TFR2-related hemochromatosis","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}