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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
Hereditary angioedema type 3

KRT1 F12
KRT16
KRT6C
KRT9


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KRT1
(0.52)
F12



Citations in the biomedical literature:


Epidermolytic palmoplantar keratoderma
KRT1 KRT16 KRT6C KRT9
Hereditary angioedema type 3
F12



Epidermolytic palmoplantar keratoderma
Hereditary angioedema type 3

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):
- HAE 3
- HAE-III
- Hereditary angioneurotic edema type 3
- Inherited estrogen-associated angioedema
- Inherited estrogen-associated angioneurotic edema
- Inherited estrogen-dependent angioedema
- Inherited estrogen-dependent angioneurotic edema

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare allergic disease
- Rare genetic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D056828

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



Hereditary angioedema type 3

(no data available)