{"orpha":75563,"name":"X-linked sideroblastic anemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["XLSA"],"definition":"X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-75563/","orphanet_url":"https://www.orpha.net/en/disease/detail/75563","names":{"fr":{"name":"Anémie sidéroblastique liée à l'X","synonyms":["XLSA"],"definition":"Anémie constitutionnelle microcytaire rare et hypochrome de gravité variable qui se caractérise par des signes cliniques d'une anémie et d'une surcharge en fer et qui peut répondre à un traitement à base de pyridoxine et d'acide folique."},"de":{"name":"Anämie, sideroblastische, X-chromosomale","synonyms":["XLSA"]},"es":{"name":"Anemia sideroblástica ligada al cromosoma X","synonyms":["XLSA"],"definition":"Es una anemia hipocrómica microcítica constitucional de gravedad variable que se caracteriza clínicamente por manifestaciones de anemia y sobrecarga de hierro y que puede responder al tratamiento con piridoxina y ácido fólico."},"it":{"name":"Anemia sideroblastica legata all'X","synonyms":["XLSA"]},"nl":{"name":"X-gebonden sideroblastische anemie","synonyms":["X-gebonden sideroblastaire anemie","XLSA"],"definition":"X-gebonden sideroblastische anemie is een constitutionele microcytaire, hypochrome anemie van variabele ernst die klinisch gekenmerkt wordt door manifestaties van anemie en ijzerstapeling en die kan reageren op een behandeling met pyridoxine en foliumzuur."},"pt":{"name":"Anemia sideroblástica ligada ao X","definition":"A anemia sideroblástica ligada ao X corresponde a uma forma constitucional de anemia microcítica e hipocrómica de gravidade variável. Clinicamente caracteriza-se por manifestações de anemia e sobrecarga de ferro, e esta pode responder favoravelmente à terapêutica com piridoxina e ácido fólico."},"pl":{"name":"Niedokrwistość syderoblastyczna sprzężona z chromosomem X","synonyms":["XLSA"]},"cs":{"name":"X-vázaná sideroblastická anémie","synonyms":["XLSA"]},"uk":{"name":"Х-зчеплена сидеробластна анемія","synonyms":["XLSA"],"definition":"X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid."},"zh":{"name":"X连锁铁幼粒细胞性贫血","synonyms":["XLSA"]},"tr":{"name":"X'e bağlı sideroblastik anemi","synonyms":["XLSA"]}},"xrefs":[{"source":"OMIM","code":"300751","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D64.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A72.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"808841924"},{"source":"MONDO","code":"0020721","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536761","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4551511","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9456","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":98362,"name":"Constitutional sideroblastic anemia","classifications":[156,194]},{"orpha":309813,"name":"Disorder of porphyrin and heme metabolism","classifications":[150,156]}],"children":[],"genes":[{"symbol":"ALAS2","name":"5'-aminolevulinate synthase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21309041[PMID]","hgnc":"397","ensembl":"ENSG00000158578","omim":"301300","loci":["Xp11.21"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":200.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","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:0011031","label":"Abnormality of iron homeostasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001952","label":"Glucose intolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}