{"orpha":254704,"name":"Genetic hyperferritinemia without iron overload","type":"Biological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Benign hyperferritinemia"],"definition":"Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-254704/","orphanet_url":"https://www.orpha.net/en/disease/detail/254704","names":{"fr":{"name":"Hyperferritinémie génétique sans surcharge en fer","synonyms":["Hyperferritinémie bénigne"],"definition":"Anomalie biologique rare définie par des taux élevés de ferritine sérique sans augmentation de la saturation de transferrine et des taux de fer dans les tissus et le sérum, caractérisée par un phénotype clinique apparemment asymptomatique."},"de":{"name":"Hyperferritinämie, hereditäre, ohne Eisenüberladung","synonyms":["Hyperferritinämie, benigne"],"definition":"Die hereditäre Hyperferritinämie ohne Eisenüberladung repräsentiert eine seltene biologische Anomalie, die durch hohe Serumferritinwerte ohne Erhöhungen der Transferrinsättigung, des Gewebe- oder Serumeisens definiert ist und die durch einen scheinbar asymptomatischen klinischen Phänotyp gekennzeichnet ist."},"es":{"name":"Hiperferritinemia genética sin sobrecarga de hierro","synonyms":["Hiperferritinemia benigna"],"definition":"La hiperferritinemia genética sin sobrecarga de hierro es una anomalía biológica poco común que se define como niveles elevados de ferritina sérica sin aumento de la saturación de transferrina, o del hierro en suero o tejidos y que está caracterizada por un fenotipo clínico aparentemente asintomático."},"it":{"name":"Iperferritinemia genetica senza sovraccarico di ferro","definition":"L'iperferritinemia genetica senza sovraccarico di ferro è un'anomalia biologica rara, caratterizzata da livelli elevati di ferritina nel siero in assenza di un aumento della saturazione della transferrina e del ferro nei tessuti o nel siero. Di solito i pazienti sono asintomatici."},"nl":{"name":"Genetische hyperferritinemie zonder ijzerstapeling","synonyms":["Goedaardige hyperferritinemie"],"definition":"Genetische hyperferritinemie zonder ijzerstapeling is een zeldzame biologische anomalie die gedefinieerd wordt als hoge gehaltes aan ferritine in het serum zonder verhoging van de transferrinesaturatie en het ijzergehalte in weefsels of serum, en die gekarakteriseerd wordt door een schijnbaar asymptomatisch klinisch fenotype."},"pt":{"name":"Hiperferritinemia genética sem sobrecarga de ferro"},"pl":{"name":"Hiperferrytynemia genetyczna bez przeładowania żelazem","synonyms":["Hiperferrytynemia łagodna"]},"cs":{"name":"Genetická hyperferitinémie bez přetížení organismu železem","synonyms":["Benign hyperferritinemia"]},"uk":{"name":"Генетично обумовлена гіперферритинемія без перевантаження залізом","synonyms":["Доброякісна гіперферритинемія"],"definition":"Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype."},"zh":{"name":"遗传性高铁蛋白血症不伴铁超载","synonyms":["良性高铁蛋白血症"],"definition":"遗传性高铁蛋白血症不伴铁过载是一种罕见的生物学异常，其定义为血清铁蛋白水平升高，但没有转铁蛋白饱和度、组织或血清铁的升高，临床表现上无明显症状。"},"tr":{"name":"Aşırı demir yüklemesi olmayan genetik hiperferritinemi","synonyms":["Selim hiperferritinemi"]}},"xrefs":[{"source":"ICD-10","code":"R77.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"MONDO","code":"0016788","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707880","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98053,"name":"Rare genetic disease"},"parents":[{"orpha":447874,"name":"Biological anomaly without phenotypic characterization","classifications":[156]}],"children":[],"genes":[{"symbol":"FTL","name":"ferritin light chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19176363[PMID]","hgnc":"3999","ensembl":"ENSG00000087086","omim":"134790","loci":["19q13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["No data available"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-06-28","source":"9378401[PMID]_19176363[PMID]_28052375[PMID]_7492760[PMID]_7493028[PMID]","terms":[{"hpo":"HP:0003281","label":"Increased circulating ferritin concentration","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001808","label":"Fragile nails","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0040130","label":"Abnormal serum iron","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0040135","label":"Abnormal transferrin saturation","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0012465","label":"Elevated hepatic iron concentration","frequency":"Excluded (0%)","criteria":null}]}}