familial hemophagocytic lymphohistiocytosis 2
Findings
No curated finding names familial hemophagocytic lymphohistiocytosis 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene.
Definition from the Mondo Disease Ontology (MONDO:0011337), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
23 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal natural killer cell physiologyHPOHP:0012177
- 26 of 26 reported patients
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient
- CNS demyelinationHPOHP:0007305
- 1 of 1 reported patient
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 3 of 3 reported patients
- HepatomegalyHPOHP:0002240
- 14 of 14 reported patients
- HepatosplenomegalyHPOHP:0001433
- 2 of 2 reported patients
- Increased CSF protein concentrationHPO
Show the remaining 11
- SplenomegalyHPOHP:0001744
- 109 of 111 reported patients
- FeverHPOHP:0001945
- 102 of 105 reported patients
- AnemiaHPOHP:0001903
- 79 of 85 reported patients
- Increased circulating ferritin concentrationHPOHP:0003281
- 65 of 71 reported patients
- HemophagocytosisHPOHP:0012156
- 85 of 97 reported patients
- HypofibrinogenemiaHPOHP:0011900
- 86 of 102 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PRF1HGNC:9360
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
7 names
Resolves to: familial hemophagocytic lymphohistiocytosis 2
- Also called
- familial hemophagocytic lymphohistiocytosis type 2FHL2genetic hemophagocytic lymphohistiocytosis caused by mutation in PRF1hemophagocytic lymphohistiocytosis, familial, type 2HLH2HPLH2PRF1 genetic hemophagocytic lymphohistiocytosis