Phenotypes associated with the disease glioma susceptibility 3 (OMIM:613029):
- 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: 2/28. (PMID:16825431)
- 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: PCS. Frequency: 3/28. (PMID:16825431)
- 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:15689453)
- Acute myeloid leukemia (HP:0004808): A form of leukemia characterized by overproduction of an early myeloid cell. Evidence: PCS. Frequency: 10/28. (PMID:16825431)
- 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:15689453)
- Nephroblastoma (HP:0002667): The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children. Evidence: PCS. Frequency: 9/30. (PMID:16825431;PMID:15689453)
- B Acute Lymphoblastic Leukemia (HP:0004812): A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood. Evidence: PCS. Frequency: 2/30. (PMID:16825431;PMID:15689453)
- Medulloblastoma (HP:0002885): A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults. Evidence: PCS. Frequency: 8/30. (PMID:16825431;PMID:15689453)