Details of Disease

General Information of Disease (ID: DISFE4YQ)

Disease Name Recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome
Synonyms hyperzincemia and hypercalprotectinemia
Definition
Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism 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. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.
Disease Hierarchy
DIS0P4HD: Zinc, elevated plasma
DIS496E5: Disorder of zinc metabolism
DISFE4YQ: Recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome
Disease Identifiers
MONDO ID
MONDO_0016676
MESH ID
C565988
UMLS CUI
C4760957
MedGen ID
1813911
Orphanet ID
251523
SNOMED CT ID
771339005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PSTPIP1 OT4PGEAB Supportive Unknown [1]
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References

1 Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases. J Allergy Clin Immunol. 2015 Nov;136(5):1337-45. doi: 10.1016/j.jaci.2015.04.016. Epub 2015 May 27.