Mosaic schwannomatosis

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: MNF3 | Mosaic SWN | Mosaic neurilemmomatosis | Mosaic neurofibromatosis type 3

A rare mosaic form of schwannomatosis characterized by findings typical of schwannomatosis namely multiple benign nerve sheath tumors called schwannomas. Mosaic form is caused by postzygotic pathogenic variants in SMARCB1 or LZTR1. In mosaic svhwannomatosis the allelic/tissue distribution of the pathogenic variant clearly suggests mosaicism. The phenotype can be milder than in schwannomatosis.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version May 2024

Newly diagnosed with
Mosaic schwannomatosis?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Cache DNA

At Cache, we are on a mission to store the biomolecules of today in order to unlock the possibilities of tomorrow. Our vision is to create a scalable, sustainable, and standardized platform for reliable storage and access of biomolecules by combining chemistry, biology, automation, and computational tools to support patient advocacy groups worldwide and better connect samples to insights.

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.