chromosome 5q deletion syndrome

Term ID

DOID:0090016

Synonyms

• 5q- syndrome, refractory macrocytic anemia due to 5q deletion
• myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

Definition

A chromosomal deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q. (3)

References

• GARD:10840
• ICD10CM:D46.7
• MESH:C535323
• MIM:153550
• ORDO:86841

Ontology

Human Disease   ( DOID:0090016 )