Phenotypes associated with the disease mismatch repair cancer syndrome 3 (OMIM:619097):
- Neoplasm of the rectum (HP:0100743). Evidence: PCS. (PMID:15340263)
- Colon cancer (HP:0003003). Evidence: PCS. Frequency: 1/2. Onset: Juvenile onset (HP:0003621). (PMID:16000562)
- Astrocytoma (HP:0009592): Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma. Evidence: PCS. Frequency: 1/2. (PMID:16283678)
- 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. Frequency: 1/2. Onset: Juvenile onset (HP:0003621). (PMID:16000562)
- 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. Frequency: 1/2. (PMID:16283678)
- T-cell lymphoma (HP:0012190): A type of lymphoma that originates in T-cells. Evidence: PCS. Frequency: 1/2. (PMID:16283678)
- 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:15340263)
- Axillary freckling (HP:0000997): The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. Evidence: PCS. Frequency: 2/2. (PMID:16000562)
- Multiple cafe-au-lait spots (HP:0007565): The presence of six or more cafe-au-lait spots. Evidence: PCS. Frequency: 6/6. (PMID:16000562;PMID:17557300;PMID:16283678;PMID:15340263)
- Lymphoma (HP:0002665): A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. Evidence: PCS. Frequency: 1/2. Onset: Childhood onset (HP:0011463). (PMID:16000562)
- Lisch nodules (HP:0009737): The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris.. Evidence: PCS. Frequency: 1/1. (PMID:17557300)