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Features include: Low red blood cell count (anemia) and Hyperpigmentation of the skin.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 1 | Low red blood cell count (anemia) |
Skin |
RPS27 function has not been fully characterized.
Diamond-Blackfan anemia 17 is associated with mutations in the RPS27 gene on chromosome 1.
Genetic testing for RPS27 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Diamond-Blackfan anemia 17 has been reported in the published literature.
No clinical trials have been registered for Diamond-Blackfan anemia 17.
15 publications have been identified in PubMed for Diamond-Blackfan anemia 17. Research spans Case Report / Case Series (27%), Epidemiology / Natural History (27%), and Diagnostic / Biomarker (20%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 4 | 27% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Diamond-Blackfan anemia 17
Hyperpigmentation of the skin |
4 |
27% |
Testing and diagnosis research | 3 | 20% |
Research summaries | 2 | 13% |
Laboratory research | 2 | 13% |
Zhang W (2026). [PMID: 42099653](https://pubmed.ncbi.nlm.nih.gov/42099653/). *Front Immunol*. [Case Report / Case Series]
Shim YJ (2026). [PMID: 41846275](https://pubmed.ncbi.nlm.nih.gov/41846275/). *British journal of haematology*. [Epidemiology / Natural History]
Janczar S (2026). [PMID: 41859097](https://pubmed.ncbi.nlm.nih.gov/41859097/). *Frontiers in immunology*. [Review / Meta-Analysis]
Kwon YD (2025). [PMID: 40358701](https://pubmed.ncbi.nlm.nih.gov/40358701/). *Annals of hematology*. [Diagnostic / Biomarker]
Tanaka H (2025). [PMID: 40567936](https://pubmed.ncbi.nlm.nih.gov/40567936/). *SAGE open medicine*. [Epidemiology / Natural History]
Dey B (2025). [PMID: 40125126](https://pubmed.ncbi.nlm.nih.gov/40125126/). *Cureus*. [Epidemiology / Natural History]
Pk S (2025). [PMID: 40940922](https://pubmed.ncbi.nlm.nih.gov/40940922/). *Cancers*. [Review / Meta-Analysis]
Cardona C (2025). [PMID: 40943281](https://pubmed.ncbi.nlm.nih.gov/40943281/). *International journal of molecular sciences*. [Diagnostic / Biomarker]
Ragab I (2025). [PMID: 39923319](https://pubmed.ncbi.nlm.nih.gov/39923319/). *Blood cells, molecules & diseases*. [Basic Science / Preclinical]
DeGroat W (2024). [PMID: 39489837](https://pubmed.ncbi.nlm.nih.gov/39489837/). *Scientific reports*. [Diagnostic / Biomarker]