{"orpha":440731,"name":"L-ferritin deficiency","type":"Biological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic hematologic disease characterized by decreased or undetectable serum L-ferritin with otherwise normal laboratory parameters. Clinical signs and symptoms include generalized seizures, atypical restless leg syndrome, mild neuropsychologic impairment, and progressive hair loss. Asymptomatic cases have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-440731/","orphanet_url":"https://www.orpha.net/en/disease/detail/440731","names":{"fr":{"name":"Déficit en L-ferritine","definition":"Maladie hématologique rare caractérisée par un taux de L-ferritine sérique très bas ou indétectable, avec des résultats de tests biologiques normaux par ailleurs. Les signes et symptômes cliniques comprennent des crises convulsives généralisées, un syndrome atypique des jambes sans repos, une déficience neuropsychologique légère et une perte progressive des cheveux. Des cas asymptomatiques ont également été rapportés."},"de":{"name":"L-Ferritin-Mangel","definition":"Eine seltene hämatologische Erkrankung, die durch vermindertes oder nicht nachweisbares L-Ferritin im Serum bei ansonsten normalen Laborparametern gekennzeichnet ist. Zu den klinischen Anzeichen und Symptomen gehören generalisierte Krampfanfälle, ein atypisches Restless-Legs-Syndrom, leichte neuropsychologische Beeinträchtigungen und fortschreitender Haarausfall. Es wurden auch asymptomatische Fälle beschrieben."},"es":{"name":"Deficiencia de L-ferritina","definition":"Es una enfermedad hematológica, de origen genético, poco frecuente caracterizada por unos niveles de L-ferritina sérica bajos o indetectables con parámetros de laboratorio normales. Los signos y síntomas clínicos incluyen crisis epilépticas generalizadas, síndrome de piernas inquietas atípico, leve afectación neuropsicológica y pérdida progresiva del cabello. También se han descrito casos asintomáticos."},"it":{"name":"Deficit di L-ferritina","definition":"Si tratta di una malattia ematologica genetica rara, caratterizzata da livelli di L-ferritina nel siero ridotti o non rilevabili, in presenza di parametri di laboratorio peraltro normali. I segni clinici comprendono le crisi epilettiche generalizzate, la sindrome atipica delle gambe senza riposo, un lieve deficit neuropsicologico e la perdita progressiva dei capelli. Sono stati descritti pazienti asintomatici."},"nl":{"name":"L-ferritinedeficiëntie","definition":"Een zeldzame, genetische hematologische aandoening, gekarakteriseerd door verminderde of niet-detecteerbare gehaltes van L-ferritine in serum en voor het overige normale laboratoriumparameters. Klinische verschijnselen en symptomen zijn onder meer gegeneraliseerde insulten, atypisch 'restless legs'-syndroom, milde neuropsychologische functiestoornis, en progressief haarverlies. Asymptomatische gevallen werden ook reeds gerapporteerd."},"pt":{"name":"Défice de ferritina-L"},"pl":{"name":"Niedobór L-ferrytyny"},"cs":{"name":"Deficit L-ferritinu"},"uk":{"name":"Дефіцит L-феритину","definition":"A rare genetic hematologic disease characterized by decreased or undetectable serum L-ferritin with otherwise normal laboratory parameters. Clinical signs and symptoms include generalized seizures, atypical restless leg syndrome, mild neuropsychologic impairment, and progressive hair loss. Asymptomatic cases have also been reported."},"zh":{"name":"L-铁蛋白缺乏症"},"tr":{"name":"L-ferritin eksikliği"}},"xrefs":[{"source":"OMIM","code":"615604","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C64.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014274","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3810090","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":309842,"name":"Disorder of iron metabolism and transport","classifications":[150,156]},{"orpha":158300,"name":"Rare genetic hematologic disease","classifications":[156]},{"orpha":97992,"name":"Rare hematologic disease","classifications":[194]}],"children":[],"genes":[{"symbol":"FTL","name":"ferritin light chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"23940258[PMID]","hgnc":"3999","ensembl":"ENSG00000087086","omim":"134790","loci":["19q13.33"]},{"symbol":"FTL","name":"ferritin light chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23940258[PMID]","hgnc":"3999","ensembl":"ENSG00000087086","omim":"134790","loci":["19q13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"23940258[PMID]_15173247[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23940258[PMID]_15173247[PMID]"}],"phenotypes":null}