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A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001)
Features include: Erythroid hypoplasia, Refractory macrocytic anemia, Megakaryocyte nucleus hypolobulation, and Anemia of inadequate production and 1 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 2 | Refractory macrocytic anemia, Anemia of inadequate production |
Prenatal/birth | 1 | Anemia of inadequate production |
RPS14 function has not been fully characterized.
Myelodysplastic syndrome associated with isolated del(5q) is associated with mutations in the RPS14 gene on chromosome 5.
Genetic testing for RPS14 is available. Testing is considered confirmatory for diagnosis.
1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.
11 publications have been identified in PubMed for myelodysplastic syndrome associated with isolated del(5q). Research spans Case Report / Case Series (36%), Review / Meta-Analysis (27%), and Clinical Trial Publication (18%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 4 | 36% |
Research summaries | 3 | 27% |
Clinical study results | 2 | 18% |
Laboratory research | 2 | 18% |
Kitayama S (2026). [PMID: 41641298](https://pubmed.ncbi.nlm.nih.gov/41641298/). *AACE endocrinology and diabetes*. [Case Report / Case Series]
Testa U (2025). [PMID: 41440765](https://pubmed.ncbi.nlm.nih.gov/41440765/). *Hematology reports*. [Review / Meta-Analysis]
Rasmussen B (2025). [PMID: 39921387](https://pubmed.ncbi.nlm.nih.gov/39921387/). *Genes, chromosomes & cancer*. [Clinical Trial Publication]
Kendrick TS (2025). [PMID: 39774131](https://pubmed.ncbi.nlm.nih.gov/39774131/). *Annals of laboratory medicine*. [Basic Science / Preclinical]
Symeonidis A (2025). [PMID: 40361316](https://pubmed.ncbi.nlm.nih.gov/40361316/). *Cancers*. [Clinical Trial Publication]
Poloni A (2025). [PMID: 39516085](https://pubmed.ncbi.nlm.nih.gov/39516085/). *Clinical lymphoma, myeloma & leukemia*. [Case Report / Case Series]
Cazzola M (2025). [PMID: 39445412](https://pubmed.ncbi.nlm.nih.gov/39445412/). *Haematologica*. [Review / Meta-Analysis]
Roncador M (2025). [PMID: 40758958](https://pubmed.ncbi.nlm.nih.gov/40758958/). *Blood*. [Review / Meta-Analysis]
Naruemon N (2025). [PMID: 41323718](https://pubmed.ncbi.nlm.nih.gov/41323718/). *Kidney medicine*. [Case Report / Case Series]
Montoro MJ (2024). [PMID: 39074355](https://pubmed.ncbi.nlm.nih.gov/39074355/). *Blood*. [Basic Science / Preclinical]
Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 5:35 PM UTC
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Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center