mismatch repair cancer syndrome
MONDO:0031219Mondo
Findings
No curated finding names mismatch repair cancer syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1.
Definition from the Mondo Disease Ontology (MONDO:0031219), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: mismatch repair cancer syndrome
- Also called
- constitutional mismatch repair deficiency syndrome