NF2 is a neurologic disorder resulting from a change in the gene of the same name, the NF2 gene. When working properly, the NF2 gene prevents tumors from forming. In people with NF2, this gene is impaired and creates a greater risk of developing certain tumors.

2024年12月25日 · NF2 (NF2, Moesin-Ezrin-Radixin Like (MERLIN) Tumor Suppressor) is a Protein Coding gene. Diseases associated with NF2 include Schwannomatosis, Vestibular and Meningioma. Among its related pathways are Signaling by Rho GTPases and Regulation of actin dynamics for phagocytic cup formation.

Neurofibromatosis type II (also known as MISME syndrome – multiple inherited schwannomas, meningiomas, and ependymomas) is a genetic condition that may be inherited or may arise spontaneously, and causes benign tumors of the brain, spinal cord, and peripheral nerves.

2022年10月3日 · Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterized by the development of multiple tumors involving the central nervous system (CNS). Bilateral vestibular schwannomas are the hallmark feature of NF2 and are present in approximately 90 to 95 percent of patients.

1998年10月14日 · NF2-related schwannomatosis (NF2) is characterized by bilateral vestibular schwannomas with associated symptoms of tinnitus, hearing loss, and balance dysfunction. The average age of onset is 18 to 24 years. Almost all affected individuals develop bilateral vestibular schwannomas by age 30 years.

2023年5月23日 · NF2 is caused by loss-of-function mutations in the NF2 gene on chromosome 22, leading the merlin protein to malfunction. Over half of NF2 patients have de novo mutations, and half of this group are mosaic. NF2 can be managed by surgery, stereotactic radiosurgery, monoclonal antibody bevacizumab, and close observation.

神经纤维瘤病2型 (neurofibromatosis type 2, NF2)是一种使个体易患多发性神经系统肿瘤的显性遗传综合征 [1-3]。 最常见的是双侧 前庭神经鞘瘤；颅内和椎管内 脑脊膜瘤 以及脊柱肿瘤 (包括固有室管膜瘤)也是该病的主要组成部分。 这一综合征是由 NF2 基因突变所致，该基因可产生一种肿瘤抑制因子，即 Merlin蛋白。 本文将总结NF2的分子发病机制、临床特点、诊断和患者治疗。 1型神经纤维瘤病 (neurofibromatosis type 1, NF1；又称von Recklinghausen病)见如下专题： 总结. …

The NF2 gene provides instructions for the production of a protein called merlin, also known as schwannomin. This protein is made in the nervous system, particularly in specialized cells called Schwann cells that wrap around and insulate nerves.

NF2 is caused by changes in the NF2 gene and is inherited in an autosomal dominant manner. It is diagnosed based on a clinical examination and the symptoms. Genetic testing may be helpful. Neurofibromatosis type 2 (NF2) is a disorder characterized by the growth of noncancerous tumors of the nervous system. Childhood symptoms include skin ...

Variants (also known as mutations) in the NF2 gene cause neurofibromatosis type 2. The NF2 gene provides instructions for making a protein called merlin (also known as schwannomin). This protein is produced in the nervous system, particularly in Schwann cells, which surround and insulate nerve cells (neurons) in the brain and spinal cord.