Diamond-Blackfan Anemia 7

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OMIM 57 612562 MedGen 42 C2675512 MeSH 44 D029503

SNOMED-CT via HPO 69 263681008 197811007 41729002 63567004 87979003 103276001 15188001 343087000 95828007 204508009 79120002 312894000 78441005 64859006 205308004 199612005 22033007 86203003 253549006 30288003 86299006 83330001 204315000 165517008 83414005 111266001 64217002 253936008 34713006 more UMLS 73 C2675512

OMIM : ⁵⁷ Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650). (612562)

MalaCards based summary : Diamond-Blackfan Anemia 7, is also known as dba7. An important gene associated with Diamond-Blackfan Anemia 7 is RPL11 (Ribosomal Protein L11). Affiliated tissues include bone, heart and bone marrow, and related phenotypes are osteopenia and scoliosis

UniProtKB/Swiss-Prot : ⁷⁵ Diamond-Blackfan anemia 7: A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies.

Clinical features from OMIM:

612562

Search Clinical Trials , NIH Clinical Center for Diamond-Blackfan Anemia 7

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 7.