NF2-related schwannomatosis
Findings
No curated finding names NF2-related schwannomatosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.
Definition from the Mondo Disease Ontology (MONDO:0007039), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
63 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Vestibular schwannomaHPOHP:0009588
- 62 of 63 reported patients
- Bilateral vestibular schwannomaHPOHP:0009589
- 43 of 48 reported patients
- Frequent (30% to 79% of cases)
- Juvenile posterior subcapsular lenticular opacitiesHPOHP:0007935
- 36 of 45 reported patients
- NeuromaHPOHP:0030430
- Very frequent (80% to 99% of cases)
- Posterior subcapsular cataractHPOHP:0007787
- 30 of 48 reported patients
- Frequent (30% to 79% of cases)
- Abnormality of the eyeHPOHP:0000478
- Frequent (30% to 79% of cases)
Show the remaining 51
- Sensorineural hearing impairmentHPOHP:0000407
- Frequent (30% to 79% of cases)
- Spinal cord tumorHPOHP:0010302
- Frequent (30% to 79% of cases)
- Unilateral vestibular schwannomaHPOHP:0009590
- 65 of 111 reported patients
- CataractHPOHP:0000518
- 81 of 148 reported patients
- Cafe-au-lait spotHPOHP:0000957
- 158 of 355 reported patients
- Abnormal cerebellum morphologyHPOHP:0001317
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NF2HGNC:7773
- Definitive · Ambry Genetics · Autosomal dominant · 2016
- Definitive · ClinGen · Autosomal dominant · 2019
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
10 names
Resolves to: NF2-related schwannomatosis
- Also called
- bilateral acoustic neurofibromatosiscentral neurofibromatosisfull neurofibromatosis type 2full NF2neurofibromatosis 2neurofibromatosis type 2NF2nonmosaic neurofibromatosis type 2nonmosaic NF2-related schwannomatosisSWNV