Disease ID | Source | Name | Description |
101000 | OMIM | Neurofibromatosis 2 (NF2) | Genetic disorder characterized by bilateral vestibular schwannomas (formerly called acoustic neuromas), schwannomas of other cranial and peripheral nerves, meningiomas, and ependymomas. It is inherited in an autosomal dominant fashion with full penetrance. Affected individuals generally develop symptoms of eighth-nerve dysfunction in early adulthood, including deafness and balance disorder. Although the tumors of NF2 are histologically benign, their anatomic location makes management difficult, and patients suffer great morbidity and mortality. The disease is caused by variants affecting the gene represented in this entry. |
162091 | OMIM | Schwannomatosis 1 (SWNTS1) | A cancer syndrome in which patients develop multiple non-vestibular schwannomas, benign neoplasms that arise from Schwann cells of the cranial, peripheral, and autonomic nerves. The disease is caused by variants affecting the gene represented in this entry. |
156240 | OMIM | Mesothelioma, malignant (MESOM) | An aggressive neoplasm of the serosal lining of the chest. It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. The disease may be caused by variants affecting the gene represented in this entry. |