{"orpha":369861,"name":"Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SIFD syndrome"],"definition":"A form of constitutional sideroblastic anemia characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-369861/","orphanet_url":"https://www.orpha.net/en/disease/detail/369861","names":{"fr":{"name":"Syndrome d'anémie sidéroblastique congénitale-déficit immunitaire en cellules B-fièvre périodique-retard de développement","synonyms":["Syndrome SIFD","Syndrome d'anémie sidéroblastique congénitale-immunodéficience à cellules B-fièvre périodique-retard de développement"],"definition":"Forme d'anémie sidéroblastique constitutionnelle caractérisée par une anémie microcytaire sévère, une lymphopénie des lymphocytes&nbsp;B, une panhypogammaglobulinémie et une neurodégénérescence variable. La maladie se manifeste dans la petite enfance par des fièvres récurrentes, des troubles gastro-intestinaux, un retard de développement, des crises convulsives, une ataxie et une surdité de perception."},"de":{"name":"Kongenitale sideroblastische Anämie-B-Zell-Immundefekt-periodisches Fieber-Entwicklungsverzögerung-Syndrom","synonyms":["SFID-Syndrom"],"definition":"Eine Form der konstitutionellen sideroblastischen Anämie, die durch schwere mikrozytäre Anämie, B-Zell-Lymphopenie, Panhypogammaglobulinämie und variable Neurodegeneration gekennzeichnet ist. Die Krankheit manifestiert sich im Säuglingsalter mit wiederkehrenden fieberhaften Erkrankungen, gastrointestinalen Störungen, Entwicklungsverzögerung, Krampfanfällen, Ataxie und sensorineuraler Taubheit."},"es":{"name":"Síndrome de anemia sideroblástica congénita-inmunodeficiencia de células B-fiebre periódica-retraso del desarrollo","synonyms":["Síndrome SFID"],"definition":"Es una forma de anemia sideroblástica constitucional caracterizada por anemia microcítica grave, linfopenia de células B, panhipogammaglobulinemia y neurodegeneración variable. La enfermedad se presenta en la lactancia con enfermedades febriles recurrentes, trastornos digestivos, retraso del desarrollo, crisis epilépticas, ataxia y sordera neurosensorial."},"it":{"name":"Sindrome anemia sideroblastica congenita-immunodeficienza dei linfociti B-febbre periodica-ritardo dello sviluppo","synonyms":["Sindrome SFID"]},"nl":{"name":"Congenitale sideroblastische anemie - B-cel-immuundeficiëntie - periodieke koorts - ontwikkelingsachterstand-syndroom","synonyms":["SFID-syndroom"],"definition":"Een vorm van constitutionele sideroblastische anemie, gekenmerkt door ernstige microcytaire anemie, B-cel-lymfopenie, panhypogammaglobulinemie en variabele neurodegeneratie. De ziekte presenteert zich in de zuigelingentijd met recidiverende febriele ziekte, stoornissen van maag-darmstelsel, ontwikkelingsachterstand, insulten, ataxie en sensorineurale doofheid."},"pt":{"name":"Síndrome de anemia sideroblástica congénita-imunodeficiência de células B-febre periódica-atraso de desenvolvimento"},"pl":{"name":"Zespół wrodzonej niedokrwistości syderoblastycznej, niedoboru odporności B-komórkowej, gorączki okresowej i opóźnienia w rozwoju","synonyms":["Zespół SIFD"]},"cs":{"name":"Syndrom zahrnující vrozenou sideroblastickou anémii, B-buněčnou imunodeficienci, periodickou horečku a opoždění vývoje","synonyms":["SIFD syndrom"]},"uk":{"name":"Синдром вродженої сидеробластної анемії-В-клітинного імунодефіциту-періодичної лихоманки-затримки розвитку","synonyms":["Синдром SIFD"],"definition":"A form of constitutional sideroblastic anemia characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness."},"zh":{"name":"先天性铁粒幼细胞性贫血-B细胞免疫缺陷-周期性发热-发育迟缓综合征","synonyms":["SIFD综合征"],"definition":"先天性铁粒幼细胞性贫血-B细胞免疫缺陷-周期性发热-发育迟缓综合征是一种体质性铁粒幼细胞性贫血(见此术语)，其特征是严重的小细胞性贫血、B细胞淋巴细胞减少症、全低丙种球蛋白血症和可变的神经退行性变。该疾病在婴儿期出现反复发热性疾病、胃肠障碍、发育迟缓、癫痫发作、共济失调和感音神经性耳聋。大多数患者需要定期输血、铁螯合和静脉注射免疫球蛋白(IVIG)替代。据报道，干细胞移植已在本病中获得成功。"},"tr":{"name":"Doğumsal sideroblastik anemi-B-hücresi immün yetmezlik-periyodik ateş-gelişme geriliği sendromu","synonyms":["SIFD sendromu"]}},"xrefs":[{"source":"OMIM","code":"616084","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D64.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A72.01","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014487","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707403","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":696870,"name":"Common variable immunodeficiency phenotype due to germinal monogenic mutation","classifications":[156,195]},{"orpha":98362,"name":"Constitutional sideroblastic anemia","classifications":[156,194]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"TRNT1","name":"tRNA nucleotidyl transferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25193871[PMID]","hgnc":"17341","ensembl":"ENSG00000072756","omim":"612907","loci":["3p26.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"25193871[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25193871[PMID]"}],"phenotypes":null}