{"orpha":209981,"name":"IRIDA syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Iron-refractory iron deficiency anemia"],"definition":"IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-209981/","orphanet_url":"https://www.orpha.net/en/disease/detail/209981","names":{"fr":{"name":"Syndrome IRIDA","synonyms":["Anémie par déficit en fer réfractaire au traitement par le fer"],"definition":"Maladie autosomique récessive rare due à une anomalie du métabolisme du fer, caractérisée par une anémie ferriprive (hypochrome, microcytaire), qui ne répond souvent pas à la prise de fer par voie orale et ne répond que partiellement au traitement par voie parentérale."},"de":{"name":"IRIDA-Syndrom","synonyms":["Eisenmangelanämie, eisenrefraktäre"],"definition":"Das IRIDA-Syndrom (Eisenrefraktäre Eisenmangelanämie (Iron-refractory iron deficiency anemia)) ist eine seltene, autosomal-rezessiv vererbte Erkrankung des Eisenstoffwechsels mit hypochromer mikrozytärer Eisenmangelanämie gekennzeichnet, die auf orale Eisenaufnahme nicht und auf parenterale Eisenbehandlung nur partiell anspricht."},"es":{"name":"Síndrome IRIDA","synonyms":["Anemia por deficiencia de hierro resistente al tratamiento por hierro"],"definition":"El síndrome IRIDA (anemia por deficiencia de hierro refractaria al hierro) es un trastorno del metabolismo del hierro autosómico recesivo poco frecuente, que se caracteriza por una anemia por deficiencia de hierro (hipocrómica, microcítica) que a menudo no responde a la toma oral de hierro y con respuesta parcial al tratamiento parenteral de hierro."},"it":{"name":"Sindrome IRIDA","synonyms":["Anemia sideropenica refrattaria al trattamento con ferro"],"definition":"La sindrome IRIDA (Iron-Refractory Iron Deficiency Anemia; anemia sideropenica refrattaria al trattamento con ferro) è un difetto raro, autosomico recessivo, del metabolismo del ferro, caratterizzato da anemia da carenza di ferro (ipocromica, microcitica), che spesso non risponde all'assunzione di ferro per os e risponde solo parzialmente al trattamento con ferro per via parenterale."},"nl":{"name":"IRIDA-syndroom","synonyms":["IJzer-refractaire ijzerdeficiëntieanemie"],"definition":"IRIDA (ijzerrefractaire ijzerdeficiëntieanemie)-syndroom is een zeldzame autosomaal recessieve stoornis van het ijzermetabolisme die gekenmerkt wordt door ijzerdeficiëntieanemie (hypochroom, microcytair) die vaak niet reageert op orale ijzerinname en gedeeltelijk reageert op parenterale ijzerbehandeling."},"pt":{"name":"Síndrome IRIDA"},"pl":{"name":"Zespół IRIDA","synonyms":["Oporna na żelazo niedokrwistość z niedoboru żelaza"]},"cs":{"name":"IRIDA syndrom","synonyms":["Anémie z nedostatku železa nereagující na léčbu železem"]},"uk":{"name":"Синдром IRIDA","synonyms":["Залізорезистентна залізодефіцитна анемія"],"definition":"IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment."},"zh":{"name":"铁难治性缺铁性贫血综合征","synonyms":["铁难治性缺铁性贫血"],"definition":"IRIDA（铁-难治性缺铁性贫血）综合征是一种罕见的以缺铁性贫血（小细胞低色素性贫血）为特征的铁代谢紊乱，口服铁剂治疗无效，部分对肠外铁治疗有效，多以常染色体隐性方式遗传。"},"tr":{"name":"IRIDA sendromu","synonyms":["Demire dirençli demir eksikliği anemisi"]}},"xrefs":[{"source":"OMIM","code":"206200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D50.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A00.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1337663861"},{"source":"MONDO","code":"0008788","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562385","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0085576","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10957","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]}],"children":[],"genes":[{"symbol":"TMPRSS6","name":"transmembrane serine protease 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19357398[PMID]_20232450[PMID]_25252070[PMID]","hgnc":"16517","ensembl":"ENSG00000187045","omim":"609862","loci":["22q12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":75.0,"area":"Worldwide","status":"Validated","source":"28491880[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28491880[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-03-04","source":"25064705[PMID]_30115430[PMID]_25805669[PMID]","terms":[{"hpo":"HP:0025066","label":"Decreased mean corpuscular volume","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004840","label":"Hypochromic microcytic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001891","label":"Iron deficiency anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040303","label":"Decreased serum iron","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012464","label":"Decreased transferrin saturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031877","label":"Elevated circulating hepcidin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001017","label":"Anemic pallor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030318","label":"Angular cheilitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001598","label":"Concave nail","frequency":"Very rare (<4-1%)","criteria":null}]}}