{"orpha":363727,"name":"X-linked dyserythropoietic anemia with abnormal platelets and neutropenia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare congenital X-linked dyserythropoietic anemia characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia, and bone marrow findings of trilineage dysplasia with hypocellularity of erythroid and granulocytic lineages. Peripheral blood shows anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes. Platelet count is typically normal, although platelet morphology may be abnormal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363727/","orphanet_url":"https://www.orpha.net/en/disease/detail/363727","names":{"fr":{"name":"Anémie dysérythropoïétique liée à l'X avec plaquettes anormales et neutropénie","definition":"Anémie dysérythropoïétique congénitale rare, liée à l'X, caractérisée par une anémie modérée à sévère sans thrombocytopénie, une neutropénie plus ou moins marquée et, au niveau de la moelle osseuse, une dysplasie trilignée et une hypocellularité des lignées érythroïde et granulocytaire. Le sang périphérique présente une anisocytose, une macrocytose, une poïkilocytose, des ellipsocytes et des érythrocytes fragmentés. La numération plaquettaire est généralement normale, bien que la morphologie des plaquettes puisse être anormale."},"de":{"name":"X-chromosomale dyserythropoetische Anämie mit abnormen Blutplättchen und Neutropenie"},"es":{"name":"Anemia diseritropoyética ligada al cromosoma X con plaquetas anómalas y neutropenia","definition":"Es una anemia diseritropoyética congénita poco frecuente ligada al cromosoma X, caracterizada por anemia de moderada a grave sin trombocitopenia, neutropenia de grado variable y hallazgos en la médula ósea de displasia trilinaje con hipocelularidad en los linajes eritroide y granulocítico. La sangre periférica muestra anisocitosis, macrocitosis, poiquilocitosis, eliptocitos y eritrocitos fragmentados. El recuento de plaquetas suele ser normal, aunque la morfología plaquetaria puede ser anómala."},"it":{"name":"Anemia diseritropoietica legata all'X con anomalia delle piastrine e neutropenia","definition":"L'anemia diseritropoietica legata all'X con anomalie delle piastrine e neutropenia è un'anemia diseritropoietica costituzionale genetica rara, caratterizzata da anemia da moderata a grave senza trombocitopenia e neutropenia di grado variabile. La biopsia del midollo osseo evidenzia displasia delle tre linee cellulari e ipocellularità della linea eritroide e granulocitaria. Gli esami di laboratorio sul sangue periferico evidenziano anisocitosi, macrocitosi, poichilocitosi, e la presenza di ellissociti ed eritrociti frammentati."},"nl":{"name":"X-gebonden dyserytropoëtische anemie met abnormale bloedplaatjes en neutropenie","definition":"Een zeldzame congenitale X-gebonden dyserytropoëtische anemie, gekenmerkt door matige tot ernstige anemie zonder trombocytopenie, variabele gradaties van neutropenie, en bevindingen bij biopsie van beenmerg die wijzen op trilineaire dysplasie en hypocellulariteit van erytroïde en granulocytaire cellijnen. Analyse van perifeer bloed toont anisocytose, macrocytose, poikilocytose, elliptocyten, en gefragmenteerde erytrocyten. Het aantal bloedplaatjes is doorgaans normaal, maar de morfologie van bloedplaatjes kan abnormaal zijn."},"pt":{"name":"Anemia deseritropoiética com plaquetas anómalas e neutropenia, ligada ao cromossoma X"},"pl":{"name":"Sprzężona z chromosomem X niedokrwistość dyserytropoetyczna z nieprawidłowymi płytkami i neutropenią","definition":"*Sprzężona z chromosomem X niedokrwistość dyserytropoetyczna z nieprawidłowymi płytkami i neutropenią jest rzadką, genetycznie uwarunkowaną, konstytucjonalną niedokrwistością dyserytropoetyczną, która charakteryzuje się umiarkowaną lub ciężką niedokrwistością bez trombocytopenii, neutropenią o różnym stopniu nasilenia oraz nieprawidłowościami w biopsji szpiku kostnego pod postacią trójliniowej dysplazji i cytopenii, dotyczącej linii erytrocytarnej i granulocytarnej. We krwi obwodowej stwierdza się anizocytozę, makrocytozę, poikilocytozę, eliptocyty i pofragmentowane erytrocyty."},"cs":{"name":"X-vázaná dyserytropoetická anémie s abnormálními destičkami a neutropenií"},"uk":{"name":"Х-зчеплена дизеритропоетична анемія з аномальними тромбоцитами та нейтропенією","definition":"X-linked dyserythropoietic anemia with abnormal platelets and neutropenia is a rare, genetic, constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia, and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes."},"zh":{"name":"X连锁伴血小板异常和中性粒细胞减少的红细胞生成异常性贫血","definition":"X连锁红细胞生成异常贫血是一种罕见的遗传性、生理性红细胞生成性贫血障碍，以中至重度贫血为特征，无血小板减少、不同程度的中性粒细胞减少，骨髓活检表现为红系和粒细胞系三系发育不良和细胞减少。外周血象包括红细胞大小不均、巨核细胞增多、多核细胞增多、椭圆形细胞和红细胞碎裂。"},"tr":{"name":"Anormal trombositler ve nötropeni ile seyreden X'e bağlı dizeritropoietik anemi"}},"xrefs":[{"source":"OMIM","code":"300835","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D64.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A73","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010444","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190600","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":85,"name":"Congenital dyserythropoietic anemia","classifications":[156,194]},{"orpha":220452,"name":"Isolated hereditary giant platelet disorder","classifications":[156,194]}],"children":[],"genes":[{"symbol":"GATA1","name":"GATA binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16783379[PMID]","hgnc":"4170","ensembl":"ENSG00000102145","omim":"305371","loci":["Xp11.23"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"16783379[PMID]"}],"phenotypes":null}