vestibular schwannomatosis

Term ID

DOID:0111252

Synonyms

• ACN
• acoustic neurofibromatosis
• BANF
• bilateral acoustic neurinoma
• bilateral acoustic neurofibromatosis
• bilateral acoustic schwannomas
• central neurofibromatosis
• familial acoustic neuromas
• neurofibromatosis 2
• neurofibromatosis type II
• NF2
• NF2-related schwannomatosis
• schwannomatosis 3
• SWN3
• SWNV

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. https://pubmed.ncbi.nlm.nih.gov/35674741/

References

• GARD:7193
• ICD10CM:Q85.02
• ICD9CM:237.72
• MESH:D016518
• MIM:101000
• NCI:C3274
• ORDO:637
• SNOMEDCT_US_2023_03_01:92503002
• UMLS_CUI:C0027832

Ontology

Human Disease   ( DOID:0111252 )