Congenital panfollicular nevus

Summary

Congenital panfollicular nevus (MONDO:0015341) is a disease. A subtype of melanocytic nevus — 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]
• Phenotypes (HPO): 6

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		3	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

6 HPO clinical features (Orphanet curated; top 6 by frequency):

HPO ID	Term	Frequency
HP:0010566	Hamartoma	Obligate (100%)
HP:0012500	Verrucous papule	Very frequent (80-99%)
HP:0200036	Skin nodule	Very frequent (80-99%)
HP:0000962	Hyperkeratosis	Frequent (30-79%)
HP:0000989	Pruritus	Excluded (0%)
HP:0012531	Pain	Excluded (0%)

Identifiers

Disease identifiers

Field	Value
Canonical name	congenital panfollicular nevus
Mondo ID	MONDO:0015341
Orphanet	139414
UMLS	C4476799
MedGen	1381094
GARD	0019912
Is cancer (heuristic)	no

Also known as: congenital panfollicular nevus · congenital panfollicular nevus (disease)

Data availability: 1 HPO phenotype.

Disease family

This is a subtype of melanocytic nevus. 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 body system or component › integumentary system disorder › integumentary system benign neoplasm › benign neoplasm of skin › melanocytic nevus › congenital panfollicular nevus

Related subtypes (27): conjunctival nevus, blue nevus, halo nevus, intradermal nevus, pigmented spindle cell nevus, nevus, epidermal, neurocutaneous melanocytosis, neutrophil actin dysfunction, CHILD syndrome, Becker nevus syndrome, CLOVES syndrome, nevus comedonicus syndrome, segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome, porokeratotic eccrine ostial and dermal duct nevus, hereditary mucosal leukokeratosis, linear verrucous nevus syndrome, nevus of Ota, nevus of Ito, phakomatosis pigmentokeratotica, PENS syndrome, Angora hair nevus, didymosis aplasticosebacea, scalp syndrome, Nevada syndrome, palpebral nevus, large congenital melanocytic nevus, benign melanocytic skin nevus

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.