Schwannomatosis

Summary

Excerpted from the GeneReview: LZTR1- and SMARCB1-Related Schwannomatosis

LZTR1- and SMARCB1-related schwannomatosis are characterized by a predisposition to develop multiple non-intradermal schwannomas. Individuals most commonly present between the second and fourth decade of life. The most common presenting feature is localized or diffuse pain or asymptomatic mass. Schwannomas most often affect peripheral nerves and spinal nerves. Meningiomas have only been reported in individuals with SMARCB1-related schwannomatosis. Malignancy remains a risk especially in individuals with SMARCB1-related schwannomatosis.

Full text of GeneReview (by section):: Summary; Diagnosis; Clinical Characteristics; Genetically Related (Allelic) Disorders; Differential Diagnosis; Management; Genetic Counseling; Resources; Molecular Genetics; Chapter Notes; References

Authors:: Radhika Dhamija; Scott Plotkin; Alicia Gomes; view full author information

Available tests

9 tests are in the database for this condition.

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Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

LZTR1
172 tests
Also known as: BTBD29, LZTR-1, NS10, NS2, SWNTS2, LZTR1
Summary: leucine zipper like post translational regulator 1
SMARCB1
209 tests
Also known as: BAF47, CSS3, INI-1, INI1, MRD15, PPP1R144, RDT, RTPS1, SNF5, SNF5L1, SWNTS1, Sfh1p, Snr1, hSNFS, SMARCB1
Summary: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

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