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Features include always present findings: Low red blood cell count (anemia), Atrial septal defect, and Pulmonic stenosis.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 1 | Low red blood cell count (anemia) |
Heart and blood vessels |
RPL27 function has not been fully characterized.
Diamond-Blackfan anemia 16 is associated with mutations in the RPL27 gene on chromosome 17.
Genetic testing for RPL27 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Diamond-Blackfan anemia 16 has been reported in the published literature.
Phenotype severity distribution: 3 always present features.
No clinical trials have been registered for Diamond-Blackfan anemia 16.
10 publications have been identified in PubMed for Diamond-Blackfan anemia 16. Research spans Review / Meta-Analysis (20%), Case Report / Case Series (20%), and Basic Science / Preclinical (20%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 2 | 20% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:01 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Diamond-Blackfan anemia 16
1 |
Atrial septal defect |
2 |
20% |
Laboratory research | 2 | 20% |
Disease patterns and progression | 2 | 20% |
Testing and diagnosis research | 1 | 10% |
Clinical study results | 1 | 10% |
Kanda J (2026). [PMID: 41592701](https://pubmed.ncbi.nlm.nih.gov/41592701/). *Transplant Cell Ther*. [Epidemiology / Natural History]
Zhong Z (2025). [PMID: 39428086](https://pubmed.ncbi.nlm.nih.gov/39428086/). *J Genet Genomics*. [Basic Science / Preclinical]
Tanaka H (2025). [PMID: 40567936](https://pubmed.ncbi.nlm.nih.gov/40567936/). *SAGE Open Med*. [Epidemiology / Natural History]
Kwon YD (2025). [PMID: 40358701](https://pubmed.ncbi.nlm.nih.gov/40358701/). *Ann Hematol*. [Diagnostic / Biomarker]
Versino F (2024). [PMID: 39702189](https://pubmed.ncbi.nlm.nih.gov/39702189/). *Orphanet J Rare Dis*. [Review / Meta-Analysis]
Çalışkan Kamış Ş (2024). [PMID: 39568018](https://pubmed.ncbi.nlm.nih.gov/39568018/). *J Med Case Rep*. [Case Report / Case Series]
Flentke GR (2024). [PMID: 38941348](https://pubmed.ncbi.nlm.nih.gov/38941348/). *PLoS One*. [Basic Science / Preclinical]
Glass J (2024). [PMID: 38988374](https://pubmed.ncbi.nlm.nih.gov/38988374/). *Case Rep Hematol*. [Case Report / Case Series]
D'Andrea G (2024). [PMID: 39001453](https://pubmed.ncbi.nlm.nih.gov/39001453/). *Cancers (Basel)*. [Review / Meta-Analysis]
Loth G (2024). [PMID: 39462810](https://pubmed.ncbi.nlm.nih.gov/39462810/). *Br J Haematol*. [Clinical Trial Publication]