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1 associated gene
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
2 associated genes
4 signs/symptoms
Porokeratotic eccrine ostial and dermal duct nevus
Palmoplantar keratoderma-deafness syndrome

GJB2 GJB2
MT-TS1


COMMON
GENES
GJB2



Citations in the biomedical literature:


Porokeratotic eccrine ostial and dermal duct nevus
GJB2
Palmoplantar keratoderma-deafness syndrome
MT-TS1



Porokeratotic eccrine ostial and dermal duct nevus
Palmoplantar keratoderma-deafness syndrome

Synonym(s):
- Comedo nevus of the palm
- Porokeratotic eccrine nevus

Synonym(s):
- PPK-deafness syndrome
- Palmoplantar hyperkeratosis-deafness syndrome
- Palmoplantar hyperkeratosis-hearing loss syndrome
- Palmoplantar keratoderma-hearing loss syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare otorhinolaryngologic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536152

Palmoplantar keratoderma-deafness syndrome

Very frequent
- Autosomal dominant inheritance
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Palmoplantar hyperkeratosis / keratoderma
- Sensorineural deafness / hearing loss



Porokeratotic eccrine ostial and dermal duct nevus

(no data available)