HAVCR2-related cancer predisposition
Findings
No curated finding names HAVCR2-related cancer predisposition yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary cancer predisposition due to variation(s) in the HAVCR2 gene, which confers the predisposition to susceptibility to subcutaneous panniculitis-like T-cell lymphoma (SPTCL) and hemophagocytic lymphohistiocytosis (HLH). Affected individuals typically present with multiple subcutaneous nodules and systemic B symptoms.
Definition from the Mondo Disease Ontology (MONDO:1060169), read 2026-09-29. CC BY 4.0.
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.
- HAVCR2HGNC:18437
- Moderate · ClinGen · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: HAVCR2-related cancer predisposition
- Also called
- HAVCR2-related SPTCL and/or HLH predispositionHAVCR2-related subcutaneous panniculitis-like T-cell lymphoma and/or hemophagocytic lymphohistiocytosis predisposition