{"orpha":225123,"name":"TFR2-related hemochromatosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hereditary hemochromatosis type 3"],"definition":"A form of rare hemochromatosis (HC) characterized by excessive tissue iron deposition of genetic origin and presenting with liver disease, hypogonadism, arthritis, diabetes and skin pigmentation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-225123/","orphanet_url":"https://www.orpha.net/en/disease/detail/225123","names":{"fr":{"name":"Hémochromatose associée à TFR2","synonyms":["Hémochromatose de type 3"],"definition":"Forme rare d'hémochromatose (HC) caractérisée par un dépôt excessif de fer dans les tissus, d'origine génétique, se manifestant par une hépathopathie, un hypogonadisme, une arthrite, un diabète et une pigmentation de la peau."},"de":{"name":"Hämochromatose, TFR2-Gen-assoziierte","synonyms":["Hämochromatose, TFR2-Gen-assoziierte","Hämochromatose, hereditäre, Typ 3"],"definition":"Eine seltene Form der Hämochromatose (HC), die durch eine genetisch bedingte übermäßige Eisenablagerung im Gewebe gekennzeichnet ist und mit Lebererkrankungen, Hypogonadismus, Arthritis, Diabetes und Hautpigmentierung einhergeht."},"es":{"name":"Hemocromatosis asociada a TFR2","synonyms":["Hemocromatosis hereditaria tipo 3"],"definition":"Es una forma poco frecuente de hemocromatosis (HC) de origen genético caracterizada por un acúmulo excesivo de hierro en los tejidos y que se presenta con enfermedad hepática, hipogonadismo, artritis, diabetes y pigmentación cutánea."},"it":{"name":"Emocromatosi correlata a TFR2","synonyms":["Emocromatosi ereditaria tipo 3"]},"nl":{"name":"TFR2-gerelateerde hemochromatose","synonyms":["Hereditaire hemochromatose type 3"],"definition":"Een vorm van zeldzame hemochromatose (HC), gekenmerkt door excessieve depositie van ijzer in weefsels met een genetische oorsprong en een presentatie met leverziekte, hypogonadisme, artritis, diabetes en huidpigmentatie."},"pt":{"name":"Hemocromatose TFR2-relacionada","synonyms":["Hemocromatose hereditária tipo 3"],"definition":"Forma rara de hemocromatose (HC) caracterizada pela deposição excessiva de ferro nos tecidos, de origem genética, e que se manifesta com doença hepática, hipogonadismo, artrite, diabetes e pigmentação da pele."},"pl":{"name":"Hemochromatoza typu 3","synonyms":["Hemochromatoza związana z TFR2"]},"cs":{"name":"Hemochromatóza, typ 3","synonyms":["TFR2-vázaná hemochromatóza"]},"uk":{"name":"Гемохроматоз, повязаний з TFR2","synonyms":["Спадковий гемохроматоз типу 3"],"definition":"A form of rare hemochromatosis (HC) characterized by excessive tissue iron deposition of genetic origin and presenting with liver disease, hypogonadism, arthritis, diabetes and skin pigmentation."},"zh":{"name":"血色素沉着症3型","synonyms":["TFR2基因相关血色素沉着症"],"definition":"血色病3星是一种罕见的遗传性血色病（HH）（见该词条），是一组以遗传性组织铁沉积过多为特征的疾病。"},"tr":{"name":"Hemokromatoz tip 3","synonyms":["TFR2-ilişkili hemokromatoz"]}},"xrefs":[{"source":"OMIM","code":"604250","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":"index","validated":true,"icd11_uri":"506792320"},{"source":"MONDO","code":"0011417","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537248","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1858664","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10093","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":648569,"name":"Non-HFE-related hemochromatosis","classifications":[150,156,183,233]}],"children":[],"genes":[{"symbol":"TFR2","name":"transferrin receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26029709[PMID]","hgnc":"11762","ensembl":"ENSG00000106327","omim":"604720","loci":["7q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":33.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-03-11","source":"26029709[PMID]_34601591[PMID]_20301523[PMID]_38850209[PMID]","terms":[{"hpo":"HP:0012463","label":"Elevated transferrin saturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003281","label":"Increased circulating ferritin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012432","label":"Chronic fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031876","label":"Decreased circulating hepcidin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012465","label":"Elevated hepatic iron concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003452","label":"Increased circulating iron concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000141","label":"Amenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005059","label":"Arthralgia/arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025406","label":"Asthenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001678","label":"Atrioventricular block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025077","label":"Decreased QRS voltage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001395","label":"Hepatic fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001402","label":"Hepatocellular carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000802","label":"Impotence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004268","label":"Osteoarthritis of the small joints of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007505","label":"Progressive hyperpigmentation","frequency":"Occasional (29-5%)","criteria":null}]}}