Visualize Submit Comment

Metadata
ID	DOID:0061185
Name	autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia
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. https://pubmed.ncbi.nlm.nih.gov/26025129/
Xrefs	MIM:601979
Parent Relationships	is_a autosomal dominant disease is_a vitamin metabolic disorder
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance