Diamond-Blackfan Anemia 7 (DBA7)

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Disease Ontology 12 DOID:0111878 OMIM® 57 612562 OMIM Phenotypic Series 57 PS105650 MeSH 44 C567254 D029503

MedGen 41 C2675512 SNOMED-CT via HPO 68 103276001 111266001 15188001 165517008 16761005 197811007 199612005 204315000 204508009 205308004 22033007 253549006 253936008 263681008 30288003 312894000 343087000 34713006 41729002 63567004 64217002 64859006 78441005 79120002 83330001 83414005 86203003 86299006 87979003 95828007 more UMLS 70 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) (Updated 05-Apr-2021)

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 marrow and kidney, and related phenotypes are horseshoe kidney and tetralogy of fallot

Disease Ontology : ¹² A Diamond-Blackfan anemia that has material basis in heterozygous mutation in RPL11 on chromosome 1p36.11.

UniProtKB/Swiss-Prot : ⁷² 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 (Updated 05-Apr-2021)

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

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