mismatch repair cancer syndrome 3
Findings
No curated finding names mismatch repair cancer syndrome 3 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 MSH6 mismatch repair gene is characterized by a high risk of childhood cancers, including hematological malignancies, brain tumors, and colorectal
Definition from the Mondo Disease Ontology (MONDO:0030841), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
9 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.
- Axillary frecklingHPOHP:0000997
- 2 of 2 reported patients
- Lisch nodulesHPOHP:0009737
- 1 of 1 reported patient
- Multiple cafe-au-lait spotsHPOHP:0007565
- 6 of 6 reported patients
- AstrocytomaHPOHP:0009592
- 1 of 2 reported patients
- Colon cancerHPOHP:0003003
- 1 of 2 reported patients · Juvenile onset
- Glioblastoma multiformeHPOHP:0012174
- 1 of 2 reported patients · Juvenile onset
- 1 of 2 reported patients
- Lymphoma
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.
- MSH6HGNC:7329
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2016
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
2 names
Resolves to: mismatch repair cancer syndrome 3
- Also called
- MMRCS3MSH6-related constitutional mismatch repair deficiency syndrome