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schwannomatosis (NF3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

schwannomatosis

MONDO:0008075

Also known as:NF3Neurinomatosisneurilemmomatosis

Find Clinical TrialsTrials

Overview

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.

Clinical Trials4 registered · 2 recruiting

Patient Orgs1 organizations · Neurofibromatosis Northeast

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Schwannoma; and common findings: Peripheral schwannoma, Spinal cord tumor, and Pain. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Pain, Paresthesia, Seizure

Diagnosis

Biomarker and diagnostic research for schwannomatosis has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 3 common features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

4 clinical trials registered, 2 recruiting. Interventions under study include drug therapy, other interventions, and medical devices. Pipeline includes 2 PHASE2, 1 NA. Research is primarily sponsored by academic and government institutions.

203 publications have been identified in PubMed for schwannomatosis. Research spans Review / Meta-Analysis (29%), Case Report / Case Series (21%), and Basic Science / Preclinical (19%).

Research Type	Count	% of Total
Research summaries	59

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

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Neurofibromatosis Northeast

USWebsite ↗

Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

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Medical References

External Resources

Orphanet

European rare disease database

Orphanet:93921

GARD

Genetic and Rare Diseases Info Center

GARD:4768

Questions for Your Care Team

→Are any of the 4 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with Neurofibromatosis Northeast and other patient organizations for support?

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Kisho

schwannomatosis

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Retroperitoneal schwannoma mimicking a large adnexal mass during pregnancy: A case report of full-term delivery followed by postpartum surgical management.

Facial nerve schwannoma of the accessory parotid gland region in a child managed through a transoral approach.

Multiple Cervical Vagus Nerve Schwannomas Masquerading as Abnormal Lymph Nodes in Sonography: A Case Report.

schwannomatosis

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Retroperitoneal schwannoma mimicking a large adnexal mass during pregnancy: A case report of full-term delivery followed by postpartum surgical management.

Facial nerve schwannoma of the accessory parotid gland region in a child managed through a transoral approach.

Multiple Cervical Vagus Nerve Schwannomas Masquerading as Abnormal Lymph Nodes in Sonography: A Case Report.