mismatch repair cancer syndrome
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.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0021190
DNA repair disease
is_a
constitutional mismatch repair deficiency syndrome
exact
SPAC19G12.02c SPBC19G7.01c SPCC285.16c SPBC1703.04