{"orpha":648562,"name":"Ferroportin disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare disorder of iron metabolism and transport characterized by iron retention in macrophages (particularly of the liver and spleen), with a clinical picture of mild anemia and elevated of serum ferritin levels. Ferroportin disease is distinct from hemochromatosis as it is not associated with high transferrin saturation or low hepcidin concentrations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-648562/","orphanet_url":"https://www.orpha.net/en/disease/detail/648562","names":{"fr":{"name":"Maladie de la ferroportine","definition":"Anomalie rare du transport et du métabolisme du fer caractérisé par une rétention du fer dans les macrophages (en particulier du foie et de la rate), avec un tableau clinique d'anémie légère et des taux élevés de ferritine sérique. La maladie de la ferroportine se distingue de l'hémochromatose car elle n'est pas associée à une saturation élevée de la transferrine ou à de faibles concentrations d'hepcidine."},"de":{"name":"Ferroportin-Krankheit","definition":"Eine seltene Störung des Eisenstoffwechsels und -transports, die durch Eiseneinlagerungen in Makrophagen (insbesondere in Leber und Milz) gekennzeichnet ist, mit einem klinischen Bild von leichter Anämie und erhöhten Serumferritinwerten. Die Ferroportin-Krankheit unterscheidet sich von der Hämochromatose, da sie nicht mit einer hohen Transferrinsättigung oder niedrigen Hepcidin-Konzentrationen verbunden ist."},"es":{"name":"Enfermedad de la ferroportina","definition":"Es un trastorno poco frecuente del metabolismo y transporte del hierro caracterizado por un acúmulo de hierro en los macrófagos (particularmente del hígado y del bazo), con un cuadro clínico de anemia leve y niveles elevados de ferritina sérica. La enfermedad por ferroportina se diferencia de la hemocromatosis en que no se asocia con una saturación elevada de transferrina o concentraciones bajas de hepcidina."},"it":{"name":"Malattia correlata alla ferroportina"},"nl":{"name":"Ferroportine-ziekte","definition":"Een zeldzame aandoening van metabolisme en transport van ijzer, gekenmerkt door retentie van ijzer in macrofagen (vooral van lever en milt) en een klinisch beeld van milde anemie en verhoogde gehaltes van ferritine in serum. Ferroportine-ziekte verschilt van hemochromatose aangezien het niet geassocieerd is met hoge transferrinesaturatie of lage concentraties van hepcidine."},"pt":{"name":"Doença da ferroportina","definition":"Patologia rara do metabolismo e do transporte de ferro caracterizada por retenção de ferro nos macrófagos (particularmente do fígado e do baço), com um quadro clínico de anemia ligeira e níveis elevados de ferritina sérica. A doença da ferroportina é diferente da hemocromatose, uma vez que não está associada a elevação da saturação da transferrina ou a baixas concentrações de hepcidina."},"pl":{"name":"Choroba ferroportyny","definition":"Rzadkie zaburzenie metabolizmu i transportu żelaza charakteryzujące się gromadzeniem żelaza w makrofagach (szczególnie wątroby i śledziony), z obrazem klinicznym łagodnej niedokrwistości i podwyższonym poziomem ferrytyny w surowicy. W przeciwieństwie do hemochromatozy w chorobie ferroportynowej nie występuje wysokie wysycenie transferryny lub niskie stężenie hepcydyny."},"cs":{"name":"Ferroportinové onemocnění"},"uk":{"name":"Ферропортінова хвороба","definition":"A rare disorder of iron metabolism and transport characterized by iron retention in macrophages (particularly of the liver and spleen), with a clinical picture of mild anemia and elevated of serum ferritin levels. Ferroportin disease is distinct from hemochromatosis as it is not associated with high transferrin saturation or low hepcidin concentrations."}},"xrefs":[{"source":"OMIM","code":"606069","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C64.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1541297428"},{"source":"UMLS","code":"C1853733","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":309842,"name":"Disorder of iron metabolism and transport","classifications":[150,156]},{"orpha":101940,"name":"Rare metabolic liver disease","classifications":[156,183]}],"children":[],"genes":[{"symbol":"SLC40A1","name":"solute carrier family 40 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"34601591[PMID]","hgnc":"10909","ensembl":"ENSG00000138449","omim":"604653","loci":["2q32.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}