{"orpha":647834,"name":"SLC40A1-related hemochromatosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A form of rare hemochromatosis (HC) characterized by increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-647834/","orphanet_url":"https://www.orpha.net/en/disease/detail/647834","names":{"fr":{"name":"Hémochromatose associée à SLC40A1","definition":"Forme rare d'hémochromatose (HC) caractérisée par une augmentation de la saturation de la transferrine et un dépôt hépatocellulaire de fer, avec des schémas de distribution et des caractéristiques cliniques impossibles à distinguer des patients atteints d'autres types d'HC."},"de":{"name":"Hämochromatose, SLC40A1-Gen-assoziierte","definition":"Eine seltene Form der Hämochromatose (HC), die durch eine erhöhte Transferrinsättigung und hepatozelluläre Eisenablagerungen gekennzeichnet ist und deren Verteilungsmuster und klinische Merkmale sich nicht von Patienten mit anderen HC-Typen unterscheiden lassen."},"es":{"name":"Hemocromatosis asociada a SLC40A1","definition":"Es una forma poco frecuente de hemocromatosis (HC) caracterizada por un incremento de la saturación de transferrina y del depósito de hierro hepatocelular con patrones de distribución y características clínicas indistinguibles de los pacientes con otros tipos de HC."},"it":{"name":"Emocromatosi correlata a SLC40A1"},"nl":{"name":"SLC40A1-gerelateerde hemochromatose","definition":"Een vorm van zeldzame hemochromatose (HC), gekenmerkt door verhoogde saturatie van transferrine en hepatocellulaire depositie van ijzer met verdelingspatronen en klinische kenmerken die niet kunnen onderscheiden worden van die van patiënten met andere types van HC."},"pt":{"name":"SLC40A1-related hemochromatosis","definition":"Forma rara de hemocromatose (HC) caracterizada por aumento da saturação da transferrina e deposição de ferro hepatocelular com padrões de distribuição e características clínicas indistinguíveis dos doentes com outros tipos de HC."},"pl":{"name":"Hemochromatoza związana z SLC40A1"},"cs":{"name":"Hemochromatóza asociovaná s SLC40A1"},"uk":{"name":"Гемохроматоз, повязаний з SLC40A1","definition":"A form of rare hemochromatosis (HC) characterized by increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC."}},"xrefs":[{"source":"OMIM","code":"606069","qualifier":"E","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":"attributed","validated":true},{"source":"MONDO","code":"0011631","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"11631","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816749","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":139491,"name":"OBSOLETE: Hemochromatosis type 4","status":"inactive"}],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":648569,"name":"Non-HFE-related hemochromatosis","classifications":[150,156,183,233]}],"children":[],"genes":[{"symbol":"SLC40A1","name":"solute carrier family 40 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"11431687[PMID]_34601591[PMID]","hgnc":"10909","ensembl":"ENSG00000138449","omim":"604653","loci":["2q32.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}