Muir-Torre syndrome
Findings
No curated finding names Muir-Torre syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma.
Definition from the Mondo Disease Ontology (MONDO:0008018), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset
HPO, annotations 2026-09-02
Features
3 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.
- Ovarian neoplasmHPOHP:0100615
- 1 of 1 reported patient
- Sebaceous gland carcinomaHPOHP:0030410
- 3 of 3 reported patients
- Colon cancerHPOHP:0003003
- 2 of 3 reported patients
Genes
4 genes
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.
- MLH1HGNC:7127
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- MSH2HGNC:7325
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- MSH6HGNC:7329
- Moderate · Genomics England PanelApp · Autosomal dominant · 2020
- PMS2HGNC:9122
- Moderate · Genomics England PanelApp · Autosomal recessive · 2020
Where it sits
Other names
1 name
Resolves to: Muir-Torre syndrome
- Also called
- multiple keratoacanthoma, Muir-Torre type