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Mismatch repair cancer syndrome 4

Summary

Mismatch repair cancer syndrome-4 (MMRCS4) is an autosomal recessive childhood cancer predisposition syndrome characterized by early-onset leukemia/lymphoma, brain tumors, colorectal/gastrointestinal cancers, and other rare malignancies, including rhabdomyosarcoma (summary by Li et al., 2015). Cafe-au-lait spots are usually present (De Vos et al., 2006). For a discussion of genetic heterogeneity of mismatch repair cancer syndrome, see MMRCS1 (276300). [from OMIM]

Available tests

27 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (27 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HNPCC4, LYNCH4, MLH4, MMRCS4, PMS-2, PMS2CL, PMSL2, PMS2
    Summary: PMS1 homolog 2, mismatch repair system component

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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