Mismatch repair cancer syndrome 3

Definition

An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the MSH6 mismatch repair gene is characterized by a high risk of childhood cancers, including hematological malignancies, brain tumors, and colorectal

Also known as mismatch repair cancer syndrome 3, MMRCS3, MSH6-related constitutional mismatch repair deficiency syndrome — per MONDO

Also identified as

• OMIM 619097 per MONDO
• UMLS C5436807 per MONDO