mismatch repair cancer syndrome 4
Findings
No curated finding names mismatch repair cancer syndrome 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the PMS2 mismatch repair gene. It is characterized by a high risk of childhood cancers, including hematological malignancies and brain tumors, as well as colorectal cancers with polyposis.
Definition from the Mondo Disease Ontology (MONDO:0030843), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
8 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.
- Agenesis of corpus callosumHPOHP:0001274
- 3 of 3 reported patients
- Gray matter heterotopiaHPOHP:0002282
- 2 of 3 reported patients
- AstrocytomaHPOHP:0009592
- 1 of 3 reported patients
- Adenomatous colonic polyposisHPOHP:0005227
- Colon cancerHPOHP:0003003
- Glioblastoma multiformeHPOHP:0012174
- Multiple cafe-au-lait spotsHPOHP:0007565
- Non-Hodgkin lymphomaHPOHP:0012539
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.
- PMS2HGNC:9122
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
2 names
Resolves to: mismatch repair cancer syndrome 4
- Also called
- MMRCS4PMS2-related constitutional mismatch repair deficiency syndrome