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22q-related schwannomatosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

22q-related schwannomatosis

MONDO:1030016

Overview

A schwannomatosis that causes a predisposition to develop multiple schwannoma. It is diagnosed when an individual does not meet criteria for NF2-related schwannomatosis, SMARCB1-related schwannomatosis, or LTZR1-related schwannomatosis and both of the following molecular features exist: a loss of heterozygosity (LOH) of the same chromosome 22q markers in two anatomically distinct tumors or hybrid nerve sheath tumors and a different NF2 pathogenic variant in each tumor which cannot be detected in unaffected tissue.

ResearchLimited published research (7 articles)

Diagnosis

Biomarker and diagnostic research for 22q-related schwannomatosis has been reported in the published literature.

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 22q-related schwannomatosis.

7 publications have been identified in PubMed for 22q-related schwannomatosis. Research spans Review / Meta-Analysis (29%), Basic Science / Preclinical (29%), and Diagnostic / Biomarker (14%).

Recent Publications

Ohara K (2026). [PMID: 40372032](https://pubmed.ncbi.nlm.nih.gov/40372032/). *Neurosurgery*. [Basic Science / Preclinical]
Peyre M (2026). [PMID: 41824074](https://pubmed.ncbi.nlm.nih.gov/41824074/). *Hum Genet*. [Epidemiology / Natural History]
Nagasaka S (2025). [PMID: 40049215](https://pubmed.ncbi.nlm.nih.gov/40049215/). *Journal of Korean Neurosurgical Society*. [Review / Meta-Analysis]
Tippner D (2025). [PMID: 41247561](https://pubmed.ncbi.nlm.nih.gov/41247561/). *Familial cancer*. [Diagnostic / Biomarker]
Nogué C (2025). [PMID: 41286185](https://pubmed.ncbi.nlm.nih.gov/41286185/). *Familial cancer*. [Basic Science / Preclinical]

Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 12:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

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22q-related schwannomatosis

Overview

Diagnosis

Research Landscape

Recent Publications

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team