Preferred Label : Diamond-blackfan anemia 12;
Symbol : DBA12;
CISMeF acronym : DBA12;
Type : Phenotype, molecular basis known;
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). For additional information about DBA as well as a discussion
of genetic heterogeneity of the disorder, see DBA1 (105650).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the ribosomal protein L15 gene (RPL15, 604174.0001);
Laboratory abnormalities : Elevated erythrocyte adenosine deaminase activity;
Prefixed ID : #615550;
Origin ID : 615550;
UMLS CUI : C3809888;
Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- Validated automatic mappings to NTBT
