Phenotypes associated with the disease mismatch repair cancer syndrome 2 (OMIM:619096):
- Colon cancer (HP:0003003). Evidence: PCS. (PMID:16372347)
- T-cell acute lymphoblastic leukemias (HP:0006727): Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. Evidence: IEA. (PMID:11809679)
- Glioblastoma multiforme (HP:0012174): A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation. Evidence: PCS. (PMID:12549480)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:16372347)
- Multiple cafe-au-lait spots (HP:0007565): The presence of six or more cafe-au-lait spots. Evidence: PCS. (PMID:11809679)