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
External Links
Disease Ontology
DOID:0110922
Mondo Disease Ontology
OMIM
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)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024