Diamond-Blackfan Anemia 12 (DBA12)

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Disease Ontology 12 DOID:0111882 OMIM® 57 615550 OMIM Phenotypic Series 57 PS105650 MeSH 44 D029503

MedGen 41 C3809888 CN182206 SNOMED-CT via HPO 68 124961001 205308004 253549006 263681008 30288003 83414005 more UMLS 70 C3809888

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 DBA, see DBA1 (105650). (615550) (Updated 05-Apr-2021)

MalaCards based summary : Diamond-Blackfan Anemia 12, also known as dba12, is related to diamond-blackfan anemia. An important gene associated with Diamond-Blackfan Anemia 12 is RPL15 (Ribosomal Protein L15). Affiliated tissues include bone marrow and bone, and related phenotypes are ventricular septal defect and triphalangeal thumb

Disease Ontology : ¹² A Diamond-Blackfan anemia that has material basis in heterozygous mutation in RPL15 on chromosome 3p24.2.

UniProtKB/Swiss-Prot : ⁷² Diamond-Blackfan anemia 12: 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®:

615550 (Updated 05-Apr-2021)

Search Clinical Trials , NIH Clinical Center for Diamond-Blackfan Anemia 12

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 12.