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1 associated gene
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
10 signs/symptoms
Neuropathy with hearing impairment
Transgrediens et progrediens palmoplantar keratoderma

GJB3 GJB3


COMMON
GENES
GJB3



Citations in the biomedical literature:


Neuropathy with hearing impairment
GJB3
Transgrediens et progrediens palmoplantar keratoderma



Neuropathy with hearing impairment
Transgrediens et progrediens palmoplantar keratoderma

Synonym(s):
(no synonyms)

Synonym(s):
- Greither disease
- Keratosis extremitatum hereditaria progrediens
- Keratosis palmoplantaris transgrediens et progrediens
- Progressive diffuse PPK
- Progressive diffuse palmoplantar keratoderma
- Transgrediens et progrediens PPK

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

Classification (ICD10):
- Diseases of the ear and mastoid process -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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

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

Transgrediens et progrediens palmoplantar keratoderma

Very frequent
- Autosomal dominant inheritance
- Dry / squaly skin / exfoliation
- Palmoplantar hyperkeratosis / keratoderma

Frequent
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hyperhidrosis / increased sweating
- Thin / hypoplastic / hyperconvex fingernails

Occasional
- Alopecia
- Corneal dystrophy
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Restricted joint mobility / joint stiffness / ankylosis


Neuropathy with hearing impairment

(no data available)