About   Help   FAQ
Disease Ontology Browser
autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia (DOID:0061185)
Alliance: disease page
Alt IDs: OMIM:601979
Definition: A vitamin metabolic disorder characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin that has_material_basis_in heterozygous mutation in the PSTPIP1 gene on chromosome 15q24.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
08/05/2025
MGI 6.24 		The Jackson Laboratory