Disease & disorder
mismatch repair cancer syndrome
MONDO:0031219
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.
Research intelligence
Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
Medications under investigation
Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
Loading mapped interventions…
MONDO disease family
Loading verified ontology relationships…
Recruiting studies by city
Loading research-site locations…
Trial status
Loading…
Trial phase
Loading…
Study start year
Loading…
Investigated drug interventions
Loading…
Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.