Lynch syndrome
Findings
No curated finding names Lynch syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present.
Definition from the Mondo Disease Ontology (MONDO:0005835), read 2026-09-29. CC BY 4.0.
- Onset and course
- Death in infancy · Death in early adulthood
HPO, annotations 2026-09-02
Features
60 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.
- Abdominal painHPOHP:0002027
- Very frequent (80% to 99% of cases)
- Adenoma sebaceumHPOHP:0009720
- Very frequent (80% to 99% of cases)
- ConstipationHPOHP:0002019
- Very frequent (80% to 99% of cases)
- FatigueHPOHP:0012378
- Very frequent (80% to 99% of cases)
- Gastrointestinal hemorrhageHPOHP:0002239
- Very frequent (80% to 99% of cases)
- Glioblastoma multiformeHPOHP:0012174
- Very frequent (80% to 99% of cases)
- Malabsorption
Show the remaining 48
- Colon cancerHPOHP:0003003
- Frequent (30% to 79% of cases)
- DepressionHPOHP:0000716
- Frequent (30% to 79% of cases)
- HypertoniaHPOHP:0001276
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- Increased intracranial pressureHPOHP:0002516
- Frequent (30% to 79% of cases)
- IrritabilityHPOHP:0000737
- Frequent (30% to 79% of cases)
Genes
10 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.
- EPCAMHGNC:11529
- Definitive · ClinGen · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
- MLH1HGNC:7127
- Definitive · ClinGen · Autosomal dominant · 2022
- Definitive · G2P · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
- MSH2HGNC:7325
- Definitive · ClinGen · Autosomal dominant · 2022
- Definitive · G2P · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
- MSH6HGNC:7329
- · ClinGen · Autosomal dominant · 2023
Where it sits
Other names
5 names
Resolves to: Lynch syndrome
- Also called
- familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)Hereditary colorectal endometrial cancer syndromehereditary defective mismatch repair syndromeHereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)