{"orpha":124,"name":"Diamond-Blackfan anemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DBA","Congenital PRCA","Congenital pure red cell aplasia","Diamond-Blackfan anemia syndrome"],"definition":"Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-124/","orphanet_url":"https://www.orpha.net/en/disease/detail/124","names":{"fr":{"name":"Anémie de Blackfan-Diamond","synonyms":["ABD","Anémie aplasique pure congénitale","Anémie de Diamond-Blackfan","Erythroblastopénie congénitale","Maladie de Blackfan-Diamond"],"definition":"L'anémie de Blackfan-Diamond (ABD), ou érythroblastopénie congénitale, se présente comme une anémie arégénérative le plus souvent macrocytaire."},"de":{"name":"Diamond-Blackfan-Anämie","synonyms":["DBA","Diamond-Blackfan-Anämie-Syndrom","Kongenitale PRCA","Kongenitale reine Erythrozytenaplasie"],"definition":"Die Blackfan-Diamond-Anämie (DBA) ist eine kongenitale aplastische und oft makrozytäre Anämie mit verminderter Zahl der Erythroblasten."},"es":{"name":"Anemia de Diamond-Blackfan","synonyms":["APCR congénita","Aplasia pura de células rojas congénita","Síndrome de anemia de Diamond-Blackfan","ADB"],"definition":"La anemia de Blackfan-Diamond (ADB) es una anemia congénita arregenerativa y con frecuencia macrocítica con eritroblastopenia."},"it":{"name":"Anemia di Diamond-Blackfan","synonyms":["Aplasia eritrocitaria pura congenita","PRCA congenita","Sindrome anemia di Diamond-Blackfan","DBA"]},"nl":{"name":"Diamond-Blackfan-anemie","synonyms":["Congenitale PRCA","Congenitale rodebloedcelaplasie","Congenitale zuivere erytrocytaire aplasie","Syndroom van Diamond-Blackfan-anemie","DBA"],"definition":"Een congenitale, niet-regeneratieve en vaak macrocytaire anemie met erytroblastopenie."},"pt":{"name":"Anemia Diamond-Blackfan","synonyms":["PRCA congénita","Síndrome de anemia de Diamond-Blackfan","Aplasia congénita pura de células vermelhas"],"definition":"A anemia de Blakfan-Diamond (DBA) é uma anemia congénita arregenerativa e frequentemente macrocítica com eritroblastopenia."},"pl":{"name":"Niedokrwistość Blackfana i Diamonda","synonyms":["Wrodzona aplazja czystoczerwonokrwinkowa","Wrodzona niedokrwistość hipoplastyczna typu Blackfana i Diamonda","Wrodzony PRCA","Zespół Aase","Zespół Aase i Smitha II","Anemia Diamonda-Blackfana"]},"cs":{"name":"Blackfanova-Diamondova anémie","synonyms":["Vrozená PRCA","Vrozená hypoplastická anémie Diamondova-Blackfanova","Aaseův syndrom","Aaseho-Smithův syndrom II","Čistá aplázie červené řady","Blackfan-Diamondova anémie","Aase-Smithův syndrom II","Vrozená hypoplastická anémie Diamond-Blackfanova"]},"uk":{"name":"Анемія Даймонда-Блекфана","synonyms":["Вроджений PRCA","Вроджена чиста еритроцитарна аплазія","Синдром анемії Даймонда-Блекфана"],"definition":"Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia."},"zh":{"name":"Diamond-Blackfan贫血","synonyms":["先天性再生不良性贫血，Blackfan-Diamond型"]},"tr":{"name":"Blackfan-Diamond anemisi","synonyms":["Aase sendromu","Doğumsal PRCA","Aase-Smith II sendromu","Diamond-Blackfan anemisi","Doğumsal saf kırmızı hücre aplazisi","Doğumsal hipoplastik anemi, Blackfan-Diamond tipi"]}},"xrefs":[{"source":"OMIM","code":"105650","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"300946","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606129","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606164","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610629","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612527","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612528","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612561","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612562","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612563","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613308","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613309","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615550","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615909","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617408","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617409","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618310","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618312","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618313","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620072","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D61.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"3A60.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1355684398"},{"source":"MONDO","code":"0015253","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D029503","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265265","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6274","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10062989","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare 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L26","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301769[PMID]_22431104[PMID]","hgnc":"10327","ensembl":"ENSG00000161970","omim":"603704","loci":["17p13.1"]},{"symbol":"RPL35","name":"ribosomal protein L35","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28280134[PMID]","hgnc":"10344","ensembl":"ENSG00000136942","omim":"618315","loci":["9q33.3"]},{"symbol":"RPL35A","name":"ribosomal protein L35a","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301769[PMID]","hgnc":"10345","ensembl":"ENSG00000182899","omim":"180468","loci":["3q29"]},{"symbol":"RPL5","name":"ribosomal protein L5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301769[PMID]","hgnc":"10402","ensembl":"ENSG00000105372","omim":"603474","loci":["19q13.2"]},{"symbol":"RPS20","name":"ribosomal protein S20","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32790018[PMID]","hgnc":"10405","ensembl":"ENSG00000008988","omim":"603682","loci":["8q12.1"]},{"symbol":"RPS24","name":"ribosomal protein S24","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301769[PMID]","hgnc":"10411","ensembl":"ENSG00000138326","omim":"602412","loci":["10q22.3"]},{"symbol":"RPS26","name":"ribosomal protein S26","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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000","value":0.65,"area":"Italy","status":"Validated","source":"10192448[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.75,"area":"United States","status":"Validated","source":"18671700[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.194,"area":"China","status":"Validated","source":"34103049[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-03-25","source":"20301769[PMID]_30228860[PMID]","terms":[{"hpo":"HP:0030270","label":"Elevated red cell adenosine deaminase activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012410","label":"Pure red cell aplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000234","label":"Abnormality of the 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heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001227","label":"Abnormality of the thenar eminence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002817","label":"Abnormality of the upper limb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009777","label":"Absent thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410030","label":"Cleft lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000185","label":"Cleft soft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001882","label":"Leukopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002863","label":"Myelodysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001895","label":"Normochromic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009944","label":"Partial duplication of thumb phalanx","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020118","label":"Radial artery aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000912","label":"Sprengel anomaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001199","label":"Triphalangeal thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004808","label":"Acute myeloid leukemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0040276","label":"Adenocarcinoma of the colon","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001087","label":"Developmental glaucoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006758","label":"Malignant genitourinary tract tumor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001790","label":"Nonimmune hydrops fetalis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002669","label":"Osteosarcoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001894","label":"Thrombocytosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very rare (<4-1%)","criteria":null}]}}