{"orpha":1195,"name":"Congenital atransferrinemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital hypotransferrinemia"],"definition":"Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1195/","orphanet_url":"https://www.orpha.net/en/disease/detail/1195","names":{"fr":{"name":"Atransferrinémie congénitale","synonyms":["Hypotransferrinémie congénitale"],"definition":"L'atransferrinémie congénitale est une maladie hématologique très rare causée par un déficit en transferrine (TF), et caractérisée par une anémie hypochromique microcytique (se manifestant par une pâleur, une fatigue et un retard de croissance) et une surcharge en fer. Elle peut être fatale en l'absence de traitement."},"de":{"name":"Atransferrinämie, kongenitale","synonyms":["Hypotransferrinämie, kongenitale"],"definition":"Die Kongenitale Atransferritinämie ist eine seltene hämatologische Erkrankung mit Transferrin (TF)-Mangel. Symptome sind: Mikrozytäre, hypochrome Anämie (mit Blässe, Mattigkeit und retardiertem Wachstum) und Eisenüberladung, die unbehandelt zum Tode führen kann."},"es":{"name":"Atransferrinemia congénita","synonyms":["Hipotransferrinemia congénita"],"definition":"La atransferrinemia congénita es una enfermedad hematológica muy rara causada por una deficiencia de transferrina (TF) y caracterizada por una anemia microcítica hipocrómica (que se manifiesta con palidez, fatiga y retraso en el crecimiento) y sobrecarga de hierro, que puede ser mortal si no se trata."},"it":{"name":"Atransferrinemia congenita","definition":"L'atransferrinemia congenita è una malattia ematologica molto rara causata dal deficit di transferrina (TF); è caratterizzata da anemia ipocromica microcitica (che si manifesta con pallore, affaticamento e ritardo della crescita) e sovraccarico di ferro. Può essere letale in assenza di trattamento."},"nl":{"name":"Congenitale atransferrinemie","synonyms":["Congenitale hypotransferrinemie"],"definition":"Congenitale atransferrinemie is een erg zeldzame hematologische ziekte die veroorzaakt wordt door een transferrine (TF)-deficiëntie en die gekenmerkt wordt door microcytaire, hypochrome anemie (die zich manifesteert met pallor, vermoeidheid en groeiachterstand) en ijzerstapeling, en die fataal kan zijn wanneer ze niet behandeld wordt."},"pt":{"name":"Atransferrinemia congénita"},"pl":{"name":"Wrodzona atransferynemia","synonyms":["Wrodzona hipotransferynemia"]},"cs":{"name":"Vrozená atransferinemie","synonyms":["Vrozená hypotransferinemie"]},"uk":{"name":"Вроджена атрансферинемія","synonyms":["Вроджена гіпотрансферинемія"],"definition":"Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated."},"zh":{"name":"先天性无转铁蛋白血症","synonyms":["先天性低转铁蛋白血症"]},"tr":{"name":"Doğumsal atransferrinemi","synonyms":["Doğumsal hipotransferrinemi"]}},"xrefs":[{"source":"OMIM","code":"209300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.0","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"5D0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2030042931"},{"source":"MONDO","code":"0008846","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538259","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0521802","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9595","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083911","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":98360,"name":"Constitutional anemia due to iron metabolism disorder","classifications":[156,194]},{"orpha":309842,"name":"Disorder of iron metabolism and transport","classifications":[150,156]}],"children":[],"genes":[{"symbol":"TF","name":"transferrin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"11740","ensembl":"ENSG00000091513","omim":"190000","loci":["3q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"19696475[PMID]_23888904[PMID]"},{"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001732","label":"Abnormality of the pancreas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null}]}}