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
Displaying entries 1 - 10 of 15 in total
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

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024