{"orpha":648581,"name":"Digenic hemochromatosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare subtype of hemochromatosis characterized by the combination of pathogenic variants in two genes involved in iron metabolism (usually a combination of HFE and non-HFE mutations), where the classical HFE-related hemochromatosis is not enough to fully explain the clinical picture of the patient.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-648581/","orphanet_url":"https://www.orpha.net/en/disease/detail/648581","names":{"fr":{"name":"Hémochromatose digénique","definition":"Sous-type rare d'hémochromatose caractérisé par la combinaison de variants pathogènes dans deux gènes impliqués dans le métabolisme du fer (généralement une combinaison de mutations de <i>HFE</i> et non <i>HFE</i>), lorsque l'hémochromatose classique liée à HFE ne suffit pas à expliquer de manière exhaustive le tableau clinique du patient."},"de":{"name":"Hämochromatose, digene","definition":"Ein seltener Subtyp der Hämochromatose, der durch die Kombination von pathogenen Varianten in zwei am Eisenstoffwechsel beteiligten Genen gekennzeichnet ist (in der Regel eine Kombination von <i>HFE</i>- und Nicht-HFE-Mutationen), wobei die klassische HFE-bedingte Hämochromatose nicht ausreicht, um das klinische Bild des Patienten vollständig zu erklären."},"es":{"name":"Hemocromatosis digénica","definition":"Es un subtipo poco frecuente de hemocromatosis caracterizado por la combinación de variantes patogénicas en dos genes implicados en el metabolismo del hierro (generalmente una combinación de mutaciones HFE y no HFE), donde la hemocromatosis clásica asociada a HFE no es suficiente para explicar completamente el cuadro clínico del paciente."},"it":{"name":"Emocromatosi digenica"},"nl":{"name":"Digenetische hemochromatose","definition":"Een zeldzaam subtype van hemochromatose, gekenmerkt door de combinatie van pathogene varianten in twee genen die een rol spelen in metabolisme van ijzer (meestal een combinatie van HFE- en niet-HFE-mutaties), waarbij klassieke HFE-gerelateerde hemochromatose niet volstaat om het klinische beeld van de patiënt volledig te verklaren."},"pt":{"name":"Hemocromatose digénica","definition":"Subtipo raro de hemocromatose caracterizado pela combinação de variantes patogénicas em dois genes envolvidos no metabolismo do ferro (geralmente uma combinação de mutações HFE e não HFE), em que a hemocromatose clássica relacionada com o HFE não é suficiente para explicar completamente o estado clínico do doente."},"pl":{"name":"Hemochromatoza digenowa","definition":"Rzadki podtyp hemochromatozy charakteryzujący się kombinacją wariantów chorobotwórczych w dwóch genach zaangażowanych w metabolizm żelaza (zwykle połączenie mutacji HFE i non-HFE), gdzie rozpoznanie klasycznej hemochromatozy związanej z HFE nie wystarcza do pełnego wyjaśnienia obrazu klinicznego choroby."},"cs":{"name":"Digenická hemochromatóza"},"uk":{"name":"Двогенний гемохроматоз","definition":"A rare subtype of hemochromatosis characterized by the combination of pathogenic variants in two genes involved in iron metabolism (usually a combination of HFE and non-HFE mutations), where the classical HFE-related hemochromatosis is not enough to fully explain the clinical picture of the patient."}},"xrefs":[{"source":"ICD-10","code":"E83.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C64.10","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0958085","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"958085","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816744","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":[],"genes":[{"symbol":"HAMP","name":"hepcidin antimicrobial peptide","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35449524[PMID]","hgnc":"15598","ensembl":"ENSG00000105697","omim":"606464","loci":["19q13.12"]},{"symbol":"HFE","name":"homeostatic iron regulator","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34601591[PMID]","hgnc":"4886","ensembl":"ENSG00000010704","omim":"613609","loci":["6p22.2"]},{"symbol":"HJV","name":"hemojuvelin BMP co-receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35449524[PMID]","hgnc":"4887","ensembl":"ENSG00000168509","omim":"608374","loci":["1q21.1"]},{"symbol":"TFR2","name":"transferrin receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26799139[PMID]","hgnc":"11762","ensembl":"ENSG00000106327","omim":"604720","loci":["7q22.1"]}],"genes_via_subtypes":[],"inheritance":["Oligogenic"],"onset":[],"prevalence":[],"phenotypes":null}