neurofibromatosis, type III, mixed central and peripheral

Summary

neurofibromatosis, type III, mixed central and peripheral (MONDO:0008080) is a disease. A subtype of schwannomatosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	neurofibromatosis, type III, mixed central and peripheral
Mondo ID	MONDO:0008080
MeSH	C537389
OMIM	162260
SNOMED CT	254240003
UMLS	C2931480
MedGen	419422
GARD	0015094
Is cancer (heuristic)	no

Also known as: neurofibromatosis, type III, mixed central and peripheral · NF3A

Disease family

This is a subtype of schwannomatosis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › skin neoplasm › schwannomatosis › neurofibromatosis, type III, mixed central and peripheral

Related subtypes (3): LZTR1-related schwannomatosis, SMARCB1-related schwannomatosis, 22q-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.