{"orpha":247790,"name":"FTH1-related iron overload","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FTH1-associated iron overload"],"definition":"A rare disorder of iron metabolism and transport characterized by elevated serum ferritin levels, increased serum iron, increased transferrin saturation, and heavy iron deposition in hepatocytes. Iron deposition has also been indicated in heart and bone marrow, while hematological examination of peripheral blood shows no abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247790/","orphanet_url":"https://www.orpha.net/en/disease/detail/247790","names":{"fr":{"name":"Surcharge en fer liée à FTH1","definition":"Anomalie rare du transport et du métabolisme du fer caractérisée par des taux élevés de ferritine sérique et de fer sérique, ainsi que par une augmentation de la saturation de transferrine et des dépôts de fer dans les hépatocytes. Des dépôts de fer dans le coeur et la moelle osseuse ont également été rapportés, en l'absence d'anomalies détectées lors de l'examen hématologique du sang périphérique."},"de":{"name":"FTH1-abhängige Eisenüberladung","definition":"Eine seltene Störung des Eisenstoffwechsels und -transports, die durch erhöhte Serumferritinwerte, erhöhtes Serumeisen, erhöhte Transferrinsättigung und starke Eisenablagerungen in den Hepatozyten gekennzeichnet ist. Eisenablagerungen wurden auch in Herz und Knochenmark festgestellt, während die hämatologische Untersuchung des peripheren Blutes keine Anomalien zeigt."},"es":{"name":"Sobrecarga de hierro ligada a FTH1","synonyms":["Sobrecarga de hierro asociada a FTH1"],"definition":"Es un trastorno poco frecuente del metabolismo y del transporte del hierro caracterizado por niveles elevados de ferritina sérica, aumento del hierro sérico, incremento de la saturación de transferrina y fuerte depósito de hierro en los hepatocitos. También se ha descrito el depósito de hierro en el corazón y la médula ósea, mientras que el examen hematológico de sangre periférica no muestra anomalías."},"it":{"name":"Sovraccarico di ferro legato a FTH1","synonyms":["Sovraccarico di ferro associato a FTH1"]},"nl":{"name":"FTH1-gerelateerde ijzerstapeling","synonyms":["FTH1-geassocieerde ijzerstapeling"],"definition":"Een zeldzame aandoening van metabolisme en transport van ijzer, gekenmerkt door verhoogde gehaltes van ferritine in serum, verhoogde hoeveelheid ijzer in serum, verhoogde saturatie van transferrine, en massale depositie van ijzer in hepatocyten. Afzetting van ijzer werd ook aangetoond in hart en beenmerg, terwijl bij hematologisch onderzoek van perifeer bloed geen afwijkingen worden opgemerkt."},"pt":{"name":"Sobrecarga de ferro FTH1-relacionada","definition":"Doença rara do metabolismo e transporte do ferro, caracterizado por níveis elevados de ferritina sérica, aumento do ferro sérico, aumento da saturação da transferrina e abundante deposição de ferro nos hepatócitos. A deposição cardíaca e medular de ferro tem sido descrita, apesar de não existirem anomalias no exame hematológico do sangue periférico."},"pl":{"name":"Przeładowanie żelazem związane z FTH1","synonyms":["FTH1-associated iron overload"],"definition":"Rzadkie zaburzenie metabolizmu i transportu żelaza, które charakteryzuje się podwyższonym poziomem ferrytyny w surowicy, podwyższonym poziomem żelaza w surowicy, zwiększonym wysyceniem transferyny i odkładaniem żelaza w hepatocytach. Gromadzenie żelaza wykazano również w sercu i szpiku kostnym, natomiast badanie hematologiczne krwi obwodowej nie wykazuje nieprawidłowości."},"cs":{"name":"Přetížení organizmu železem spojené s FTH1","synonyms":["Přetížení organizmu železem asociované s FTH1"]},"uk":{"name":"Перевантаження залізом, повязане з FTH1","synonyms":["FTH1-асоційоване перевантаження залізом"],"definition":"A rare disorder of iron metabolism and transport characterized by elevated serum ferritin levels, increased serum iron, increased transferrin saturation, and heavy iron deposition in hepatocytes. Iron deposition has also been indicated in heart and bone marrow, while hematological examination of peripheral blood shows no abnormalities."},"zh":{"name":"FTH1基因相关铁超负荷","synonyms":["FTH1基因相关铁超超载"]},"tr":{"name":"FTH1-ilişkili aşırı demir yükü","synonyms":["FTH1-ilişkili aşırı demir yükü"]}},"xrefs":[{"source":"OMIM","code":"615517","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620669","qualifier":"BTNT","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":"0014225","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1851316","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13472","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"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":"FTH1","name":"ferritin heavy chain 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11389486[PMID]","hgnc":"3976","ensembl":"ENSG00000167996","omim":"134770","loci":["11q12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["No data available"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"11389486[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11389486[PMID]"}],"phenotypes":null}