Details of Disease

General Information of Disease (ID: DISBBSGH)

Disease Name Familial hemophagocytic lymphohistiocytosis 2
Synonyms
Hlh2; hemophagocytic lymphohistiocytosis, familial, 2; Hplh2; FHL2; familial hemophagocytic lymphohistiocytosis type 2; genetic hemophagocytic lymphohistiocytosis caused by mutation in PRF1; HPLH2; hemophagocytic lymphohistiocytosis, familial, type 2; PRF1 genetic hemophagocytic lymphohistiocytosis; HLH2
Definition Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene.
Disease Hierarchy
DISQP21Z: Hereditary hemophagocytic lymphohistiocytosis
DISBBSGH: Familial hemophagocytic lymphohistiocytosis 2
Disease Identifiers
MONDO ID
MONDO_0011337
UMLS CUI
C1863727
OMIM ID
603553
MedGen ID
400366

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
LIFR TTID542 Strong CausalMutation [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GNLY OTZJKA8C Disputed Biomarker [2]
PRF1 OTFVXD7H Definitive Autosomal recessive [3]
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References

1 Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet. 2004 Feb;74(2):298-305. doi: 10.1086/381715. Epub 2004 Jan 21.
2 HLH-2/E2A Expression Links Stochastic and Deterministic Elements of a Cell Fate Decision during C.elegans Gonadogenesis.Curr Biol. 2019 Sep 23;29(18):3094-3100.e4. doi: 10.1016/j.cub.2019.07.062. Epub 2019 Aug 8.
3 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.