Familial multiple discoid fibromas

Summary

Familial multiple discoid fibromas (MONDO:0008594) is a disease. A subtype of skin neoplasm — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		44	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	familial multiple discoid fibromas
Mondo ID	MONDO:0008594
MeSH	C536847
OMIM	190340
Orphanet	538756
UMLS	C1860850
MedGen	348201
GARD	0008479
Is cancer (heuristic)	no

Also known as: discoid fibromas, familial multiple · familial multiple trichodiscomas · FMDF · hereditary multiple trichodiscomas · small benign fibrovascular tumor of the dermal part of the hair disk · small benign fibrovascular tumour of the dermal part of the hair disc

Disease family

This is a subtype of skin neoplasm. 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 › familial multiple discoid fibromas

Related subtypes (16): dermoid cyst of skin, eyelid neoplasm, epidermal appendage tumor, dermis tumor, skin cancer, benign dermal neurilemmoma, actinic keratosis, familial Dupuytren contracture, schwannomatosis, Maffucci syndrome, hemangiopericytoma of skin, benign neoplasm of skin, melanocytic skin neoplasm, epithelial skin neoplasm, calcifying epithelial odontogenic tumor, familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome

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.