{"orpha":300298,"name":"Severe congenital hypochromic anemia with ringed sideroblasts","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Severe congenital hypochromic sideroblastic anemia"],"definition":"A very rare severe non-syndromic hypochromic anemia characterized by transfusion-dependent hypochromic, poorly regenerative anemia and iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-300298/","orphanet_url":"https://www.orpha.net/en/disease/detail/300298","names":{"fr":{"name":"Anémie hypochrome congénitale sévère avec sidéroblastes en couronne","synonyms":["Anémie hypochrome congénitale sévère avec sidéroblastes en anneau","Anémie sidéroblastique hypochrome congénitale sévère"],"definition":"Anémie hypochrome non syndromique sévère très rare, caractérisée par une anémie hypochrome dépendante de transfusions, faiblement régénérative, une surcharge en fer, ressemblant à l'anémie sidéroblastique non syndromique, à l'exception d'une augmentation des taux de protoporphyrine érythrocytaire."},"de":{"name":"Schwere kongenitale hypochrome Anämie mit Ringsideroblasten","synonyms":["Hypochrome Anämie mit Ringsideroblasten, schwere kongenitale Form"]},"es":{"name":"Anemia congénita hipocrómica grave con sideroblastos en anillo","synonyms":["Anemia sideroblástica hipocrómica congénita grave con sideroblastos en anillo"],"definition":"La anemia sideroblástica asociada a STEAP3/TSAP6 es una anemia hipocrómica no sindrómica grave muy poco frecuente caracterizada por anemia hipocrómica poco regenerativa dependiente de transfusiones y sobrecarga de hierro, que se asemeja a la anemia sideroblástica no sindrómica, excepto por un aumento de los niveles de protoporfirina eritrocitaria."},"it":{"name":"Anemia ipocromica congenita grave con sideroblasti ad anello","synonyms":["Anemia sideroblastica ipocromica congenita grave"]},"nl":{"name":"Ernstige congenitale hypochrome anemie met ringsideroblasten","synonyms":["Ernstige congenitale hypochrome sideroblastische anemie"],"definition":"STEAP3/TSAP6-gerelateerde sideroblastische anemie is een erg zeldzame, ernstige, niet-syndromale, hypochrome anemie, die gekenmerkt wordt door transfusie-afhankelijke hypochrome, weinig regeneratieve anemie, ijzerstapeling, gelijkend op niet-syndromale sideroblastische anemie (zie deze term) met uitzondering van verhoogde protoporfyrineniveaus in de erytrocyten."},"pt":{"name":"Anemia hipocrómica congénita grave com sideroblastos em anel","synonyms":["Anemia sideroblástica hipocrómica congénita grave"]},"pl":{"name":"Ciężka wrodzona niedokrwistość niedobarwliwa z syderoblastami pierścieniowatymi","synonyms":["Ciężka wrodzona niedokrwistość syderoblastyczna niedobarwliwa"]},"cs":{"name":"Těžká vrozená hypochromní anémie s prstenčitými sideroblasty","synonyms":["Těžká vrozená hypochromní sideroblastická anémie"]},"uk":{"name":"Тяжка вроджена гіпохромна анемія з кільцевими сидеробластами","synonyms":["Тяжка вроджена гіпохромна сидеробластна анемія"],"definition":"STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels."},"zh":{"name":"伴有环状铁粒母细胞的重度先天性低色素性贫血","synonyms":["重度先天性低色素性铁粒幼细胞性贫血"],"definition":"STEAP3/TSAP6相关性铁粒幼细胞性贫血是一种非常罕见的严重、非综合征性低色素性贫血，其特征是输血依赖性低色素性贫血、再生障碍性贫血、铁超载，除红细胞原卟啉升高外，与非综合征性铁粒幼细胞性贫血（见本术语）相似。"},"tr":{"name":"Halkalı sideroblastlar ile seyreden ağır doğumsal hipokromik anemi","synonyms":["Ağır doğumsal hipokromik sideroblastik anemi"]}},"xrefs":[{"source":"OMIM","code":"615234","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":"1791760858"},{"source":"MONDO","code":"0014094","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4511137","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":98362,"name":"Constitutional sideroblastic anemia","classifications":[156,194]}],"children":[],"genes":[{"symbol":"STEAP3","name":"STEAP3 metalloreductase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22031863[PMID]","hgnc":"24592","ensembl":"ENSG00000115107","omim":"609671","loci":["2q14.2"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"22031863[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":"2017-06-12","source":"22031863[PMID]","terms":[{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012464","label":"Decreased transferrin saturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003281","label":"Increased circulating ferritin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001896","label":"Reticulocytopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000864","label":"Abnormality of the hypothalamus-pituitary axis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004823","label":"Anisopoikilocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000027","label":"Azoospermia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025066","label":"Decreased mean corpuscular volume","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012465","label":"Elevated hepatic iron concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003452","label":"Increased circulating iron concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000846","label":"Adrenal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000957","label":"Cafe-au-lait spot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012134","label":"Dysplastic erythropoesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null}]}}