chromosome 5q deletion syndrome

Summary
Synonym
  • 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.
Super Class
chromosomal deletion syndrome
External Links
Disease Ontology
DOID:0090016
Mondo Disease Ontology
MeSH
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
308 ANXA5 annexin A5
929 CD14 CD14 molecule
972 CD74 CD74 molecule
3161 HMMR hyaluronan mediated motility receptor

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024