schwannomatosis
Findings
No curated finding names schwannomatosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.
Definition from the Mondo Disease Ontology (MONDO:0008075), read 2026-09-29. CC BY 4.0.
Features
20 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.
- SchwannomaHPOHP:0100008
- Obligate (100% of cases)
- PainHPOHP:0012531
- Frequent (30% to 79% of cases)
- Peripheral schwannomaHPOHP:0009593
- Frequent (30% to 79% of cases)
- Spinal cord tumorHPOHP:0010302
- Frequent (30% to 79% of cases)
- CataractHPOHP:0000518
- Occasional (5% to 29% of cases)
- Hearing impairmentHPOHP:0000365
- Occasional (5% to 29% of cases)
- LipomaHPOHP:0012032
Show the remaining 8
- TinnitusHPOHP:0000360
- Occasional (5% to 29% of cases)
- Uterine leiomyomaHPOHP:0000131
- Occasional (5% to 29% of cases)
- FasciculationsHPOHP:0002380
- Very rare (1% to 4% of cases)
- HypoesthesiaHPOHP:0033748
- Very rare (1% to 4% of cases)
- MeningiomaHPOHP:0002858
- Very rare (1% to 4% of cases)
- Neoplasm of the anterior pituitaryHPOHP:0011750
- Very rare (1% to 4% of cases)
Genes
2 genes
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.
Where it sits
Other names
4 names
Resolves to: schwannomatosis
- Also called
- neurilemmomatosisNeurinomatosisneurofibromatosis type 3NF3