Diamond-blackfan anemia 1

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;

Details

Origin ID

105650;

UMLS CUI

C2676137;

Automatic exact mappings (from CISMeF team)
- DBA Mouse [NCIt concept]
- Erythrogenesis imperfecta (disorder) [Inactive SNOMED CT concept]
- Hereditary pure red cell aplasia [ICD-11 Subcategory]
- RPS19 wt Allele [NCIt concept]
- ribosomal protein S19 [ORDO Gene]
Currated CISMeF NLP mapping
- Blackfan-Diamond disease [PASCAL descriptor]
- Diamond-Blackfan Anemia 1 [NCIt concept]
- Diamond-Blackfan anemia 1 [MeSH Supplementary Concept]
- Diamond-Blackfan anemia 1 [MeSH concept]
- Diamond-Blackfan anemia 1 [DO Concept]
DO Cross reference
- Diamond-Blackfan anemia 1 [DO Concept]
False automatic mappings
- Bangladesh [NCIt concept]
- Bermuda [NCIt concept]
- Birth Date [NCIt concept]
- CDISC Basic Data Structure Dataset [NCIt concept]
Genes related to phenotype
- Ribosomal protein s19 [OMIM gene]
HPO term(s)
- 11 pairs of ribs [HPO term]
- Absent thumb [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid thoracic vertebrae [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Coarctation of aorta [HPO term]
- Colon cancer [HPO term]
- Congenital hypoplastic anemia [HPO term]
- Congestive heart failure [HPO term]
- Delayed cranial suture closure [HPO term]
- Depressed nasal ridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Elevated red cell adenosine deaminase level [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypoplastic coccygeal vertebrae [HPO term]
- Hypoplastic ilia [HPO term]
- Hypoplastic sacral vertebrae [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Myelodysplasia [HPO term]
- Myelodysplastic syndrome [HPO term]
- Narrow chest [HPO term]
- Neutropenia [HPO term]
- Osteosarcoma [HPO term]
- Pallor [HPO term]
- Parietal foramina [HPO term]
- Partial duplication of thumb phalanx [HPO term]
- Premature birth [HPO term]
- Primary congenital glaucoma [HPO term]
- Renal hypoplasia [HPO term]
- Reticulocytopenia [HPO term]
- Retrognathia [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Short thumb [HPO term]
- Strabismus [HPO term]
- Thrombocytopenia [HPO term]
- Thrombocytosis [HPO term]
- Tricuspid stenosis [HPO term]
- Triphalangeal thumb [HPO term]
- Ventricular septal defect [HPO term]
- Webbed neck [HPO term]
- mild radial hypoplasia [HPO term]
ORDO concept(s)
- Blackfan-Diamond anemia [ORDO Disease]
See also inter- (CISMeF)
- Aase Smith syndrome 2 [MeSH concept]
- Aase Smith syndrome 2 [MeSH Supplementary Concept]
- Aase syndrome [MedDRA Preferred Term]
- Aase syndrome (disorder) [SNOMED CT concept]
- Congenital Pure Red Cell Aplasia [NCIt concept]
- Congenital hypoplastic anemia (disorder) [SNOMED CT concept]
- aase syndrome [MeSH concept]
- aase syndrome [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Diamond-Blackfan Anemia 1 [NCIt concept]
- Diamond-Blackfan anemia 1 [MeSH concept]
- Diamond-Blackfan anemia 1 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Blackfan-Diamond anaemia [ICD-11 More detail]
- Blackfan-Diamond anemia [ORDO Disease]
- Blackfan-Diamond disease [PASCAL descriptor]
- Diamond Blackfan anemia [Disease (Nov.)]
- Diamond-Blackfan anaemia [MedDRA LLT]
- Diamond-Blackfan anemia [MedDRA LLT]
- anemia, Diamond-Blackfan [MeSH concept]
- anemia, diamond-blackfan [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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