Preferred Label : Diamond-blackfan anemia 1;
Symbol : DBA1;
CISMeF acronym : BDS; DBA; DBA1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : BDS; Aregenerative anemia, chronic congenital; Red cell aplasia, pure, hereditary; Aase-smith syndrome II; Aase syndrome; Anemia, congenital erythroid hypoplastic; Blackfan-diamond syndrome; DBA; Anemia, congenital hypoplastic, of blackfan and diamond; Erythrogenesis imperfecta;
Description : 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). - Genetic Heterogeneity of Diamond-Blackfan Anemia A locus
for DBA (DBA2; 606129) has been mapped to chromosome 8p23-p22. Other forms of DBA
include DBA3 (610629), caused by mutation in the RPS24 gene (602412) on chromosome
10q22-q23; DBA4 (612527), caused by mutation in the RPS17 gene (180472) on 15q; DBA5
(612528), caused by mutation in the RPL35A gene (180468) on 3q29-qter; DBA6 (612561),
caused by mutation in the RPL5 gene (603634) on 1p22.1; DBA7 (612562), caused by mutation
in the RPL11 gene (604175) on 1p36.1-p35; DBA8 (612563), caused by mutation in the
RPS7 gene (603658) on 2p25; DBA9 (613308), caused by mutation in the RPS10 gene (603632)
on 6p; DBA10 (613309), caused by mutation in the RPS26 (603701) gene on chromosome
12q; DBA11 (614900), caused by mutation in the RPL26 gene (603704) on 17p13; and DBA12
(615550), caused by mutation in the RPL15 gene (604174) on chromosome 3p24. Boria
et al. (2010) provided a review of the molecular basis of Diamond-Blackfan anemia,
emphasizing that it is a disorder of defective ribosome synthesis. Gazda et al. (2012)
completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan
anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately
25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7,
1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. Gazda et al. (2012) stated that in total
these mutations account for approximately 54% of all DBA patients.;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the ribosomal protein S19 gene (RPS19, 603474.0001);
Neoplasia : Osteogenic sarcoma; Myelodysplastic syndrome; Colon cancer;
Laboratory abnormalities : Elevated erythrocyte adenosine deaminase (eADA);
Prefixed ID : #105650;
Origin ID : 105650;
UMLS CUI : C2676137;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
False automatic mappings
Genes related to phenotype
HPO term(s)
ORDO concept(s)
See also inter- (CISMeF)
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to NTBT