{"orpha":139507,"name":"Dietary iron overload disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["African iron overload","Bantu siderosis"],"definition":"A rare disorder described in sub-Saharan African populations and characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139507/","orphanet_url":"https://www.orpha.net/en/disease/detail/139507","names":{"fr":{"name":"Maladie de surcharge nutritionnelle en fer","synonyms":["Hémochromatose africaine","Sidérose bantoue","Sidérose des Bantous"],"definition":"Maladie rare décrite chez les populations d'Afrique subsaharienne, caractérisée par une surcharge en fer due à un apport alimentaire excessif en fer et éventuellement à des facteurs génétiques, entraînant une fibrose portale hépatique et une cirrhose micronodulaire."},"de":{"name":"Afrikanische Eisenüberladung","synonyms":["Bantu-Siderose"],"definition":"Die Afrikanische Eisenüberladung ist eine seltene, in Sub-Sahara-afrikanischen Bevölkerungen auftretende Störung mit Eisenüberladung, verursacht durch exzessive Eisenaufnahme mit der Nahrung und eventuelle Beteiligung genetischer Faktoren. Die Folge sind portale Leberfibrose und mikronoduläre Zirrhose."},"es":{"name":"Sobrecarga de hierro tipo africano","definition":"Es un trastorno poco frecuente descrito en poblaciones africanas subsaharianas que se caracteriza por una sobrecarga de hierro por ingesta excesiva de hierro en la dieta y, posiblemente, por factores genéticos, dando lugar a fibrosis portal hepática y a cirrosis micronodular."},"it":{"name":"Sovraccarico di ferro, tipo africano","synonyms":["Siderosi dei Bantu"],"definition":"Il sovraccarico di ferro tipo Africano è una malattia rara descritta nelle popolazioni dell'Africa sub-sahariana; è caratterizzato dal sovraccarico di ferro secondario all'eccessiva assunzione di ferro nella dieta ed, eventualmente, correlato a fattori genetici, che provocano la fibrosi portale epatica e la cirrosi micronodulare."},"nl":{"name":"Afrikaanse ijzerstapeling","synonyms":["Bantoe-siderose","Bantu-siderose"],"definition":"Een zeldzame aandoening, beschreven bij populaties uit de sub-Sahara en gekarakteriseerd door ijzerstapeling door excessieve inname van ijzer via het dieet en mogelijk genetische factoren, wat leidt tot fibrose van de poortader in de lever en micronodulaire cirrose."},"pt":{"name":"Sobrecarga de ferro, tipo africano"},"pl":{"name":"Afrykańskie przeciążenie żelazem","synonyms":["Syderoza Bantu"]},"cs":{"name":"Africký typ přetížení organizmu železem","synonyms":["Bantu sideróza"]},"uk":{"name":"Хвороба надлишку заліза в раціоні харчування","synonyms":["Африканське перевантаження залізом","Сидероз Банту"],"definition":"A rare disorder described in sub-Saharan African populations and characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis."},"zh":{"name":"非洲铁过载症","synonyms":["Bantu铁质沉着"],"definition":"一种发生在撒哈拉以南非洲人群中的罕见疾病，其特征是饮食中过量铁摄入和可能的遗传因素引起的铁超负荷，从而导致肝门静脉纤维化和小结节性肝硬化。"},"tr":{"name":"Afrika aşırı demir yükü","synonyms":["Bantu siderozu"]}},"xrefs":[{"source":"OMIM","code":"601195","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":"869212237"},{"source":"MONDO","code":"0011012","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537904","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268063","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8495","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083862","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":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-21","source":"10615217[PMID]_10881373[PMID]_1727237[PMID]_8549953[PMID]_14515008[PMID]","terms":[{"hpo":"HP:0003281","label":"Increased circulating ferritin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012465","label":"Elevated hepatic iron concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012463","label":"Elevated transferrin saturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001395","label":"Hepatic fibrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002614","label":"Hepatic periportal necrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006562","label":"Viral hepatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012090","label":"Abnormal pancreas morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011732","label":"Abnormality of adrenal morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000078","label":"Abnormality of the genital system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011772","label":"Abnormality of thyroid morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031035","label":"Chronic infection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012852","label":"Hepatic bridging fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","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:0003118","label":"Increased circulating cortisol level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001413","label":"Micronodular cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100510","label":"Vitamin C deficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011459","label":"Esophageal carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002586","label":"Peritonitis","frequency":"Very rare (<4-1%)","criteria":null}]}}