How is SMARCB1-related schwannomatosis inherited?

SMARCB1-related schwannomatosis follows an multifactorial and autosomal dominant inheritance pattern. This means inheriting just one copy of the altered gene from either parent can cause the condition.

How is SMARCB1-related schwannomatosis diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for SMARCB1-related schwannomatosis?

Information about treatment is currently limited for this condition.

What complications can arise from SMARCB1-related schwannomatosis?

Information about complications related to SMARCB1-related schwannomatosis is currently limited. However, patients may experience issues related to nerve tumors, which can lead to pain or other symptoms. It's important to work closely with a healthcare provider to monitor any changes.

How does SMARCB1-related schwannomatosis affect daily life?

Daily life with SMARCB1-related schwannomatosis can vary from person to person. Some may experience pain or discomfort from nerve tumors, which can affect activities. It's important to discuss any challenges with a healthcare provider to find ways to manage symptoms effectively.

What is the prognosis for someone with SMARCB1-related schwannomatosis?

Currently, information about the prognosis for SMARCB1-related schwannomatosis is limited. Each person's experience can be different, and ongoing medical care is important. Regular check-ups can help manage symptoms and monitor any changes.

Are there any specialists recommended for managing SMARCB1-related schwannomatosis?

While specific recommendations for specialists are not detailed, it is generally helpful to see a healthcare provider who understands SMARCB1-related schwannomatosis. This may include neurologists or geneticists who can provide guidance and support tailored to the condition.

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SMARCB1-related schwannomatosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

SMARCB1-related schwannomatosis

MONDO:0024517

Also known as:SWNTS1schwannomatosis 1schwannomatosis, somatic

Find Clinical TrialsTrials

Overview

GeneticsMultifactorial, Autosomal dominant

Clinical Trials3 registered · 2 recruiting

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: Peripheral schwannoma; and common findings: Spinal cord tumor. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Ears	1	Vestibular schwannoma

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Consensus diagnostic criteria for LZTR1- and SMARCB1-related schwannomatosis have been published .

Suggestive Findings

LZTR1- or SMARCB1-related schwannomatosis should be suspected in a proband with the following:

Two or more non-intradermal tumors suggestive of schwannomas
Absence of bilateral vestibular schwannomas

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for SMARCB1-related schwannomatosis. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

A multispecialty guideline group has developed the first comprehensive recommendations for treatment and surveillance for schwannomatosis . Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with LZTR1- or SMARCB1-related schwannomatosis, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. LZTR1- and SMARCB1-Related Schwannomatosis: Recommended Evaluations Following Initial Diagnosis

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended by a multispecialty guideline group .

Table 6.

LZTR1- and SMARCB1-Related Schwannomatosis: Recommended Surveillance

System/Concern | Evaluation | Frequency

Neurologic

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.

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

112 publications have been identified in PubMed for SMARCB1-related schwannomatosis. Research spans Review / Meta-Analysis (36%), Basic Science / Preclinical (20%), and Case Report / Case Series (16%).

Research Type	Count	% of Total
Research summaries	39

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:162091

Questions for Your Care Team

→Are any of the 3 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about SMARCB1-related schwannomatosis

Information about overview is currently limited for this condition.

Information about symptoms is currently limited for this condition.

Information about causes is currently limited for this condition.

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GeneReviews

Differential Diagnosis

An individual with suspected schwannomatosis should have comprehensive molecular genetic testing (i.e., analysis of LZTR1, SMARCB1, NF2, and other genetic causes of predisposition to schwannomatosis [see ]), which may involve multiple tissues, including tumor tissue if available/possible. Table 3. LZTR1- and SMARCB1-Related Schwannomatosis: Differential Diagnosis

Gene /Genetic Mechanism	Disorder	MOI	Clinical Features of Disorder
Overlapping w/LZTR1- SMARCB1-Schwannomatosis	Distinguishing from LZTR1- SMARCB1-Schwannomatosis Chr 22q LOH1	22q-related schwannomatosis	Peripheral nerve sheath tumors (schwannomas)
DGCR8	DGCR8-related schwannomatosis2	AD	Peripheral nerve sheath tumors (schwannomas)
Neurofibromatosis 1	AD	Peripheral nerve sheath tumors (neurofibromas); Malignant peripheral nerve sheath tumors	Cutaneous stigmata w/caf au lait macules freckling NF2
NF2-related schwannomatosis	AD	Peripheral nerve sheath tumors (schwannomas); Unilateral vestibular schwannoma; Meningioma	Bilateral vestibular schwannomas; Ependymomas; Cataracts; Retinal hamartomas; Epiretinal membrane; Intradermal schwannomas; Cutaneous schwannomas PRKAR1A
Carney complex	AD	Schwannomas or psammomatous melanotic schwannomas	Endocrine features; Cardiac skin myxomas; Pigmented skin lesions PTPN11
Noonan syndrome with multiple lentigines	AD	Multiple peripheral nerve tumors3	Hearing loss SMARCE1
SUFU	Familial susceptibility to meningioma (OMIM 607174)	AD	Meningioma

Source: GeneReviews — "LZTR1- and SMARCB1-Related Schwannomatosis"

System/Concern	Evaluation	Comment
Genetic counseling	By genetics professionals2	To obtain a pedigree inform affected persons their families re nature, MOI, implications of LZTR1- or SMARCB1-related schwannomatosis to facilitate medical personal decision making Family support resources
LZTR1- and SMARCB1-Related Schwannomatosis: Treatment of Manifestations Manifestation/Concern	Treatment	Considerations/Other
Peripheral nerve schwannomas	Surgical resection is indicated for symptomatic schwannomas (e.g., uncontrolled localized pain related to a schwannoma, a schwannoma resulting in a neurologic deficit).	The principles for surgical resection are similar to sporadic nerve sheath tumors:; Benefits must be weighed against risks.; Given technical challenges, referral to expert center w/peripheral nerve surgeon is recommended.
CNS schwannomas in general	Educate affected persons on most common early symptoms that suggest that an existing tumor is becoming problematic. Early intervention for problematic tumors improves outcomes for many CNS tumors.	Performing surgery for each newly identified tumor is impractical inadvisable.

Kisho

SMARCB1-related schwannomatosis

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Neurologic

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Clinical Guidance

Explore clinical features

Establishing the Diagnosis

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Neuropsychiatric

Recent Publications

SMARCB1-related schwannomatosis

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Neurologic

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is SMARCB1-related schwannomatosis?

What are the symptoms of SMARCB1-related schwannomatosis?

What causes SMARCB1-related schwannomatosis?

How is SMARCB1-related schwannomatosis inherited?

How is SMARCB1-related schwannomatosis diagnosed?

Are there treatments for SMARCB1-related schwannomatosis?

What complications can arise from SMARCB1-related schwannomatosis?

How does SMARCB1-related schwannomatosis affect daily life?

What is the prognosis for someone with SMARCB1-related schwannomatosis?

Are there any specialists recommended for managing SMARCB1-related schwannomatosis?

Clinical Guidance

Explore clinical features

Establishing the Diagnosis

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Neuropsychiatric

Recent Publications