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1 OMIM reference -
4 associated genes
8 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Epidermolytic palmoplantar keratoderma
Congenital bilateral absence of vas deferens

KRT1 CFTR
KRT16
KRT6C
KRT9


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KRT9
(0.63)
CFTR



Citations in the biomedical literature:


Epidermolytic palmoplantar keratoderma
KRT1 KRT16 KRT6C KRT9
Congenital bilateral absence of vas deferens
CFTR



Epidermolytic palmoplantar keratoderma
Congenital bilateral absence of vas deferens

Synonym(s):
- Diffuse erythrodermic palmoplantar keratoderma, Voerner type
- Diffuse erythrodermic palmoplantar keratoderma, Vörner type
- EPPK
- Epidermolytic palmoplantar keratoderma of Voerner
- Epidermolytic palmoplantar keratoderma of Vörner

Synonym(s):
- Congenital bilateral agenesis of vas deferens
- Congenital bilateral aplasia of vas deferens

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare infertility
- Rare urogenital 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: 1-5 / 10 000
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535984

Epidermolytic palmoplantar keratoderma

Very frequent
- Autosomal dominant inheritance
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Palmoplantar hyperkeratosis / keratoderma
- Warts / papillomas

Frequent
- Abnormal fingernails
- Eczema
- Hyperhidrosis / increased sweating



Congenital bilateral absence of vas deferens

(no data available)