{"orpha":255132,"name":"Adult-onset autosomal recessive sideroblastic anemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GLRX5-related sideroblastic anemia"],"definition":"A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (<i>GLRX5</i>) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-255132/","orphanet_url":"https://www.orpha.net/en/disease/detail/255132","names":{"fr":{"name":"Anémie sidéroblastique autosomique récessive de l'adulte","synonyms":["Anémie sidéroblastique associée à GLRX5"],"definition":"Anémie sidéroblastique très rare, non syndromique, autosomique récessive, réfractaire à la pyridoxine, due à un défaut d'épissage de la glutaredoxine-5 (GLRX5) décrite chez un seul patient présentant une anémie microcytaire hypochrome apparue à l'âge adulte, accompagnée d'une surcharge hépatique en fer et d'un diabète de type&nbsp;2."},"de":{"name":"Sideroblastische Anämie mit Beginn im Erwachsenenalter, autosomal-rezessiv","synonyms":["GLRX5-abhängige sideroblastische Anämie"]},"es":{"name":"Anemia sideroblástica autosómica recesiva de inicio en el adulto","synonyms":["Anemia sideroblástica asociada a GLRX5"],"definition":"Es una anemia sideroblástica refractaria a la piridoxina autosómica recesiva no sindrómica muy infrecuente debida a un defecto de empalme de la glutaredoxina-5 (<i>GLRX5</i>) descrito en un solo paciente con anemia hipocrómica microcítica de inicio en la edad adulta con sobrecarga hepática de hierro y diabetes tipo 2."},"it":{"name":"Anemia sideroblastica autosomica recessiva a esordio nell'età adulta","synonyms":["Anemia sideroblastica GLRX5-correlata"]},"nl":{"name":"Autosomaal recessieve sideroblastische anemie met aanvang op volwassen leeftijd","synonyms":["GLRX5-gerelateerde sideroblastische anemie"],"definition":"Een zeer zeldzame, niet-syndromale, autosomaal recessieve, pyridoxineresistente sideroblastische anemie als gevolg van een splicing-defect van glutaredoxine-5 (<i>GLRX5</i>), beschreven bij een enkele patiënt met in de volwassenheid aanvangende microcytaire hypochrome anemie met ijzerstapeling in lever en diabetes type 2."},"pt":{"name":"Anemia sideroblástica autossómica recessiva de início no adulto","synonyms":["Anemia sideroblástica refratária à piridoxina autossómica recessiva"]},"pl":{"name":"Autosomalna recesywna niedokrwistość syderoblastyczna o początku w wieku dorosłym","synonyms":["Niedokrwistość syderoblastyczna związana z GLRX5"]},"cs":{"name":"Autozomálně recesivní sideroblastická anémie dospělého věku","synonyms":["GLRX5-vázaná sideroblastická anémie"]},"uk":{"name":"Аутосомно-рецесивна сидеробластна анемія, що починається в дорослому віці","synonyms":["Сидеробластна анемія, повязана з GLRX5"],"definition":"A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (<i>GLRX5</i>) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes."},"zh":{"name":"成人常染色体隐性遗传性铁粒幼细胞贫血","synonyms":["GLRX5基因相关铁粒幼细胞贫血"],"definition":"一种非常罕见的非综合征性常染色体隐性遗传性维生素B6难治性铁粒幼细胞性贫血，由谷胱甘肽-5(GLRX5)剪接缺陷引起，患者表现为成人起病的小细胞低色素性贫血伴肝铁负荷过重和2型糖尿病."},"tr":{"name":"Erişkin başlangıçlı otozomal resesif sideroblastik anemi","synonyms":["GLRX5-ilişkili sideroblastik anemi"]}},"xrefs":[{"source":"OMIM","code":"616860","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":"200229490"},{"source":"MONDO","code":"0014804","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304054","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":254830,"name":"Mitochondrial substrate carrier disorder","classifications":[150,156]}],"children":[],"genes":[{"symbol":"GLRX5","name":"glutaredoxin 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17485548[PMID]","hgnc":"20134","ensembl":"ENSG00000182512","omim":"609588","loci":["14q32.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17485548[PMID]_25342667[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"17485548[PMID]_25342667[PMID]"}],"phenotypes":null}