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MIRAGE
familial hemophagocytic lymphohistiocytosis 2

Summary
Synonym
  • FHL2
  • HLH2
  • HPLH2
Definition
A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the PRF1 gene on chromosome 10q22.1.
Super Class
autosomal recessive disease hemophagocytic lymphohistiocytosis
Disease Ontology
DOID:0110922
Mondo Disease Ontology
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5551 PRF1 perforin 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
18646 Prf1 perforin 1 (pore forming protein)
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P14222 Perforin-1
Displaying 1 entry
UniProt ID Protein Name Source
P10820 Perforin-1
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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

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Last updated: August 4, 2025