Schwannomatosis, vestibular

Preferred Label : Schwannomatosis, vestibular;

Symbol : SWNV;

CISMeF acronym : ACN; BANF; NF2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bilateral acoustic neurofibromatosis; BANF; Acoustic neurinoma, bilateral; Neurofibromatosis, central type; ACN; Acoustic schwannomas, bilateral; Schwannomatosis 3; NF2; Neurofibromatosis, type II; SWN3;

Description : The central or type II form of neurofibromatosis (NF2) is an autosomal dominant multiple neoplasia syndrome characterized by tumors of the eighth cranial nerve (usually bilateral), meningiomas of the brain, and schwannomas of the dorsal roots of the spinal cord. The incidence of neurofibromatosis type II is 1 in 25,000 live births (Asthagiri et al., 2009). NF2 has few of the hallmarks of the peripheral or type I form of neurofibromatosis (NF1; 162200), also known as von Recklinghausen disease. Asthagiri et al. (2009) provided a detailed review of neurofibromatosis type II.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in merlin (NF2, 101000.0001);

Neoplasia : Meningioma; Neurofibroma; Vestibular Schwannoma (over 90% of patients); Astrocytoma; Ependymoma; Glioma;

Prefixed ID : #101000;

Details

Origin ID

101000;

UMLS CUI

C0027832;

Automatic exact mappings (from CISMeF team)
- 3-hydroxy-5-estrane-17-carbonitrile [MeSH concept]
- 3-hydroxy-5-estrane-17-carbonitrile [MeSH Supplementary Concept]
- Acnes [MedDRA High Level Term]
- Action Taken with Study Treatment [NCIt concept]
- Anterior cutaneous nerve entrapment syndrome [ORDO Disease]
- CDISC SDTM Action Taken with Study Treatment Terminology [NCIt concept]
- Merlin [NCIt concept]
- NF2 Gene [NCIt concept]
- NF2 gene [LOINC component]
- NF2 wt Allele [NCIt concept]
- NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor [ORDO Gene]
- NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor [HGNC gene]
- neurofibromatosis 1 [MeSH Descriptor]
- neurofibromatosis 2 [DO Concept]
- neuroma, acoustic, bilateral [MeSH concept]
- schwannoma, acoustic, bilateral [MeSH concept]
Currated CISMeF NLP mapping
- Full NF2-related schwannomatosis [ORDO Disease]
- Neurofibromatosis II [PASCAL descriptor]
- Neurofibromatosis Type 2 [NCIt concept]
- Neurofibromatosis type 2 [ICD-11 Sub-sub category]
- Neurofibromatosis type 2 (disorder) [SNOMED CT concept]
- Neurofibromatosis, type 2 (acoustic neurofibromatosis) [MedDRA LLT]
- neurofibromatosis 2 [MeSH Descriptor]
- neurofibromatosis 2 [MeSH concept]
- neurofibromatosis type 2 [Disease (Nov.)]
- neurofibromatosis type 2 [Radlex concept]
- neurofibromatosis, type 2 [SNOMED Notion]
DO Cross reference
- neurofibromatosis 2 [DO Concept]
Genes related to phenotype
- Nf2, moesin-ezrin-radixin-like (merlin) tumor suppressor [OMIM gene]
HPO term(s)
- Astrocytoma [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral vestibular Schwannoma [HPO term]
- Cafe-au-lait spot [HPO term]
- Cortical cataract [HPO term]
- Ependymoma [HPO term]
- Epiretinal membrane [HPO term]
- Headache [HPO term]
- Hearing impairment [HPO term]
- Juvenile posterior subcapsular lenticular opacities [HPO term]
- Meningioma [HPO term]
- Occasional cafe-au-lait spots [HPO term]
- Occasional neurofibromas [HPO term]
- Optic nerve sheath meningioma [HPO term]
- Peripheral Schwannoma [HPO term]
- Peripheral neuropathy [HPO term]
- Retinal hamartoma [HPO term]
- Seizure [HPO term]
- Tinnitus [HPO term]
- Unilateral vestibular Schwannoma [HPO term]
- Vertigo [HPO term]
- Young adult onset [HPO term]
Not associated HPO term(s)
- Lisch nodules [HPO term]
ORDO concept(s)
- Full NF2-related schwannomatosis [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Full NF2-related schwannomatosis [ORDO Disease]
- Neurofibromatosis II [PASCAL descriptor]
- Neurofibromatosis Type 2 [NCIt concept]
- Neurofibromatosis type 2 [ICD-11 Sub-sub category]
- Neurofibromatosis type 2 (disorder) [SNOMED CT concept]
- Neurofibromatosis, type 2 (acoustic neurofibromatosis) [MedDRA LLT]
- Neurofibromatosis, type 2 [acoustic neurofibromatosis] [ICD-9 code]
- neurofibromatosis 2 [MeSH Descriptor]
- neurofibromatosis 2 [MeSH concept]
- neurofibromatosis 2 [DO Concept]
- neurofibromatosis type 2 [Radlex concept]
- neurofibromatosis type 2 [Disease (Nov.)]
- neurofibromatosis, type 2 [SNOMED Notion]

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