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vestibular schwannomatosis
Summary
- Synonym
-
- ACN
- BANF
- NF2
- NF2-related schwannomatosis
- SWN3
- SWNV
- acoustic neurofibromatosis
- bilateral acoustic neurinoma
- bilateral acoustic neurofibromatosis
- bilateral acoustic schwannomas
- central neurofibromatosis
- familial acoustic neuromas
- neurofibromatosis 2
- neurofibromatosis type II
- schwannomatosis 3
- Definition
- A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2.
- Super Class
- schwannomatosis
External Links
- Disease Ontology
- DOID:0111252
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 847 | CAT | catalase | |
| 960 | CD44 | CD44 molecule (IN blood group) | |
| 1571 | CYP2E1 | cytochrome P450 family 2 subfamily E member 1 | |
| 1588 | CYP19A1 | cytochrome P450 family 19 subfamily A member 1 | |
| 2194 | FASN | fatty acid synthase | |
| 4507 | MTAP | methylthioadenosine phosphorylase | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma |
Related Glycoprotein
