Wyburn-Mason syndrome

Summary

Wyburn-Mason syndrome (MONDO:0018892) is a disease. A subtype of skin hemangioma — 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	Wyburn-Mason syndrome
Mondo ID	MONDO:0018892
MeSH	C536752
Orphanet	53719
SNOMED CT	6729006
UMLS	C0265321
MedGen	120534
GARD	0007900
MedDRA	10048661
NORD	1863
Is cancer (heuristic)	no

Also known as: arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes · bonnet-Decaume-Blanc syndrome · bonnet-Dechaume-Blanc syndrome · CAMS2 · Cerebrofacial arteriovenous metameric syndrome type 2 · Wyburn Mason syndrome · Wyburn Mason’s syndrome

Disease family

This is a subtype of skin hemangioma. 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: human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › benign neoplasm › cardiovascular organ benign neoplasm › benign blood vessel neoplasm › hemangioma › skin hemangioma › Wyburn-Mason syndrome

Related subtypes (9): skin epithelioid hemangioma, cherry hemangioma, angiokeratoma, scrotal hemangioma, tufted angioma, verrucous hemangioma, Cobb syndrome, angioma serpiginosum, eyelid capillary hemangioma

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.