Mosaic schwannomatosis
diseaseOn this page
Summary
Mosaic schwannomatosis (MONDO:0859765) is a disease. A subtype of mosaic neurofibromatosis/schwannomatosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: Unknown (Worldwide) [Orphanet-validated]
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.7928 | United Kingdom | Validated |
| Prevalence at birth | 1-9 / 100 000 | 1.4502 | United Kingdom | Validated |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | mosaic schwannomatosis |
| Mondo ID | MONDO:0859765 |
| Orphanet | 634492 |
| UMLS | C5816779 |
| MedGen | 1843393 |
| GARD | 0026766 |
| Is cancer (heuristic) | no |
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › hereditary neoplastic syndrome › mosaic neurofibromatosis/schwannomatosis › mosaic schwannomatosis
Related subtypes (2): mosaic neurofibromatosis type 1, mosaic NF2-related schwannomatosis
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.