{"orpha":231401,"name":"Alpha-thalassemia-myelodysplastic syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ATMDS","Acquired HbH disease","Acquired hemoglobin H disease"],"definition":"An acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-231401/","orphanet_url":"https://www.orpha.net/en/disease/detail/231401","names":{"fr":{"name":"Syndrome d'alpha-thalassémie-syndrome myélodysplasique","synonyms":["ATMDS","Hémoglobinose H acquise","Maladie HbH acquise","Thalassémie alpha-syndrome myélodysplasique"],"definition":"L'alpha-thalassémie - syndrome myélodysplasique (ATMDS) est une forme acquise d'alpha-thalassémie caractérisée par un syndrome myélodysplasique (SMD) ou plus rarement par une maladie myéloproliférative (MMP) associée à une hémoglobinose H."},"de":{"name":"Alpha-Thalassämie-myelodysplastisches Syndrom","synonyms":["ATMDS","HbH-Krankheit, erworbene","Hämoglobin-H-Krankheit, erworbene"],"definition":"Das Alpha-Thalassämie-Myelodysplastische Syndrom (ATMDS) ist eine erworbene Form der Alpha-Thalassämie (siehe dort) und gekennzeichnet durch ein myelodysplastisches Syndrom (MDS) oder, seltener, durch eine myeloproliferative Erkrankung (MPD) in Verbindung mit Hämoglobin-H-Krankheit (HbH; siehe jeweils dort)."},"es":{"name":"Alfa-talasemia-síndrome mielodisplásico","synonyms":["ATMDS","Enfermedad de la HbH adquirida","Enfermedad de la hemoglobina H adquirida"],"definition":"Es una forma adquirida de alfa talasemia caracterizada por un síndrome mielodisplásico (SMD) o, con menor frecuencia, por enfermedad mieloproliferativa (EMP) asociada a una enfermedad de la hemoglobina H (HbH)."},"it":{"name":"Alfa talassemia - sindrome mielodisplastica","synonyms":["ATMDS","Emoglobinopatia H acquisita","Malattia HbH acquisita"],"definition":"La sindrome mielodisplastica-alfa talassemia (ATMDS) è una forma acquisita di alfa talassemia (si veda questo termine), caratterizzata da una sindrome mielodisplastica (MDS) o, più raramente, da una malattia mieloproliferativa (MPD) associata a un'emoglobinopatia H (HbH; si vedano questi termini)."},"nl":{"name":"Alfa-thalassemie - myelodysplastisch syndroom","synonyms":["ATMDS","Verworven HbH-ziekte","Verworven hemoglobine H-ziekte"],"definition":"Een verworven vorm van alfa-thalassemie, gekarakteriseerd door een myelodysplastisch syndroom (MDS) of in zeldzamere gevallen een myeloproliferatieve ziekte (MPD), geassocieerd met hemoglobine H-ziekte (HbH)."},"pt":{"name":"Alfa-talassemia-síndrome mielodisplásica"},"pl":{"name":"Alfa-talasemia - zespół mielodysplastyczny","synonyms":["ATMDS","Nabyta choroba HbH","Nabyta choroba hemoglobiny H"]},"cs":{"name":"Alfa-talasémie s myelodysplastickým syndromem","synonyms":["ATMDS","Získaná HbH nemoc","Hemoglobinopatie s hemoglobinem H"]},"uk":{"name":"Альфа-таласемія-мієлодиспластичний синдром","synonyms":["Набута хвороба HbH","Набута хвороба гемоглобіну Н","ATMDS"],"definition":"An acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH)."},"zh":{"name":"α-地中海贫血-骨髓增生异常综合征","synonyms":["获得性血红蛋白H病"],"definition":"一种以骨髓增生异常综合征（MDS），或与血红蛋白H病（HbH）相关的骨髓增生性疾病（MPD）为特征的获得性α地中海贫血。"},"tr":{"name":"Alfa-talasemi-miyelodisplastik sendrom","synonyms":["ATMDS","Edinsel HbH hastalığı","Edinsel hemoglobin H hastalığı"]}},"xrefs":[{"source":"OMIM","code":"300448","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D46.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"D56.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A50.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1991581630"},{"source":"MONDO","code":"0010328","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563023","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0585216","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":232288,"name":"Syndrome with alpha-thalassemia as a major feature","classifications":[156,194,233]}],"children":[],"genes":[{"symbol":"ATRX","name":"ATRX chromatin remodeler","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":null,"hgnc":"886","ensembl":"ENSG00000085224","omim":"300032","loci":["Xq21.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":80.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011903","label":"HbH hemoglobin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001935","label":"Microcytic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002488","label":"Acute leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002863","label":"Myelodysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}