How is LZTR1-related schwannomatosis inherited?

LZTR1-related schwannomatosis follows an autosomal dominant inheritance pattern. This means inheriting just one copy of the altered gene from either parent can cause the condition.

How is LZTR1-related schwannomatosis diagnosed?

Information about how the condition is diagnosed is currently limited for this condition.

Are there treatments for LZTR1-related schwannomatosis?

Information about treatment options and management approaches is currently limited for this condition.

What complications can arise from LZTR1-related schwannomatosis?

Information about complications from LZTR1-related schwannomatosis is currently limited. However, since this condition can involve the growth of tumors called schwannomas, these tumors may cause pain or pressure on nearby nerves. It's important to monitor symptoms and consult with a healthcare provider for personalized guidance.

How does LZTR1-related schwannomatosis affect daily life?

Daily life for someone with LZTR1-related schwannomatosis can vary based on symptoms and tumor locations. Some individuals may experience pain or discomfort, which can affect activities. It's essential to work with healthcare providers to find ways to manage symptoms and maintain a good quality of life.

What is the prognosis for someone with LZTR1-related schwannomatosis?

Currently, there is limited information about the prognosis for LZTR1-related schwannomatosis. Since this condition can involve tumor growth, the outlook may depend on individual circumstances, including the size and location of tumors. Regular check-ups with a healthcare provider can help monitor the condition.

Are there any specialists recommended for LZTR1-related schwannomatosis?

While specific recommendations for specialists are not widely available, it is generally advised to consult with a neurologist or a geneticist for LZTR1-related schwannomatosis. These specialists can help manage symptoms and provide guidance on the condition. It's important to find a healthcare team that understands this rare disease.

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LZTR1-related schwannomatosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

LZTR1-related schwannomatosis

MONDO:0014299

Also known as:Schwannomatosis type 2schwannomatosis 2SWNTS2

Overview

GeneticsAutosomal dominant

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. 2 total HPO annotations.

GeneReviews

Clinical Guidance

LZTR1- and SMARCB1-related schwannomatosis are characterized by a predisposition to develop multiple schwannomas (histologically benign nerve sheath tumors) . Individuals most commonly present between the second and fourth decade of life. The most common presenting symptoms are localized or diffuse pain or an asymptomatic mass. Focal weakness and/or muscle atrophy rarely occur as the only presenting sign of LZTR1- or SMARCB1-related schwannomatosis . Schwannomas most often affect peripheral nerves and spinal nerves . Among the spinal nerves, the lumbar spine is most commonly affected . Although cranial nerve involvement is rare, the most common cranial nerve affected is the trigeminal nerve .

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 LZTR1-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.

No clinical trials have been registered for LZTR1-related schwannomatosis.

234 publications have been identified in PubMed for LZTR1-related schwannomatosis. Kisho has analyzed 138 by research type. Research spans Review / Meta-Analysis (31%), Case Report / Case Series (18%), and Clinical Trial Publication (17%).

Research Type	Count	% of Total
Research summaries	43	31%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615670

GARD

Genetic and Rare Diseases Info Center

GARD:16000

Questions for Your Care Team

→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 LZTR1-related schwannomatosis

Information about LZTR1-related schwannomatosis is currently limited for this condition. This condition is also known by several other names, including Schwannomatosis type 2, schwannomatosis 2, SWNTS2, and schwannomatosis-2. The summary of this condition provided by authoritative sources is brief, and detailed information is not widely available at this time.

Information about symptoms is currently limited for this condition.

Information about causes, genetics, and risk factors is currently limited for this condition.

← Back to All Diseases

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

LZTR1-related schwannomatosis

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Neurologic

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Explore clinical features

Establishing the Diagnosis

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Neuropsychiatric

Recent Publications

LZTR1-related schwannomatosis

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Neurologic

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is LZTR1-related schwannomatosis?

What are the symptoms of LZTR1-related schwannomatosis?

What causes LZTR1-related schwannomatosis?

How is LZTR1-related schwannomatosis inherited?

How is LZTR1-related schwannomatosis diagnosed?

Are there treatments for LZTR1-related schwannomatosis?

What complications can arise from LZTR1-related schwannomatosis?

How does LZTR1-related schwannomatosis affect daily life?

What is the prognosis for someone with LZTR1-related schwannomatosis?

Are there any specialists recommended for LZTR1-related schwannomatosis?

Explore clinical features

Establishing the Diagnosis

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Neuropsychiatric

Recent Publications