NEVUS, EPIDERMAL

General Information (adopted from Orphanet):

Synonyms, Signs: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC NEVUS SEBACEOUS, INCLUDED
PIGMENTED MOLES
Number of Symptoms 5
OrphanetNr:
OMIM Id: 162900
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000995) Melanocytic nevus 63 / 7739
2
(HPO:0001054) Numerous nevi 8 / 7739
3
(OMIM) Pigmented moles 1 / 7739
4
(OMIM) Multiple nevi 4 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Epidermal nevi are congenital lesions that affect about 1 in 1,000 people. They appear at or shortly after birth as localized epidermal thickening with hyperpigmentation that frequently follow the lines of Blaschko, suggesting that they result from postzygotic ...
Molecular genetics OMIM - Mutations in the FGFR3 Gene

Hafner et al. (2006) analyzed 39 common epidermal nevi from 33 patients using a multiplex PCR assay covering 11 FGFR3 (134934) point mutations and by direct sequencing of exon 19 ...