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COMMON GENES: 1
1 associated gene
No signs/symptoms info
Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Porokeratotic eccrine ostial and dermal duct nevus

GJB2 GJB2


COMMON
GENES
GJB2



Citations in the biomedical literature:


Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
GJB2
Porokeratotic eccrine ostial and dermal duct nevus



Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Porokeratotic eccrine ostial and dermal duct nevus

Synonym(s):
- Bart-Pumphrey syndrome
- Knuckle pads-leuconychia-sensorineural deafness-palmoplantar keratoderma syndrome

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

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare otorhinolaryngologic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare oncologic 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:
(no data available)

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

Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome

Very frequent
- Abnormal nails colour / leukonychia / melanonychia
- Autosomal dominant inheritance
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Sensorineural deafness / hearing loss
- Subcutaneous nodules / lipomas / tumefaction / swelling

Frequent
- Palmoplantar hyperkeratosis / keratoderma



Porokeratotic eccrine ostial and dermal duct nevus

(no data available)