myelodysplastic syndrome associated with isolated del(5q)
Findings
No curated finding names myelodysplastic syndrome associated with isolated del(5q) yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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)
Definition from the Mondo Disease Ontology (MONDO:0007925), read 2026-09-29. CC BY 4.0.
- Inheritance
- Typified by somatic mosaicism · Contiguous gene syndrome · Sporadic
- Onset and course
- Late onset
HPO, annotations 2026-09-02
Features
20 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- MyelodysplasiaHPOHP:0002863
- Very frequent (80% to 99% of cases)
- Abnormal erythrocyte morphologyHPOHP:0001877
- Frequent (30% to 79% of cases)
- Abnormal megakaryocyte morphologyHPOHP:0012143
- Frequent (30% to 79% of cases)
- Bone marrow hypercellularityHPOHP:0031020
- Frequent (30% to 79% of cases)
- Erythroid hypoplasiaHPOHP:0012133
- Frequent (30% to 79% of cases)
- Increased circulating lactate dehydrogenase concentration
Where it sits
Other names
9 names
Resolves to: myelodysplastic syndrome associated with isolated del(5q)
- Also called
- 5Q minus syndrome5Q- syndrome5q- syndrome, refractory macrocytic anaemia due to 5q deletionchromosome 5q deletion syndromemacrocytic anemia, refractory, due to 5q deletion, somaticmyelodysplastic syndrome associated with isolated del (5q) chromosome Abnormalitymyelodysplastic syndrome associated with isolated del(5q) chromosome abnormalitymyelodysplastic syndrome with 5q deletionmyelodysplastic syndrome with isolated del(5q)