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1 OMIM reference -
4 associated genes
8 signs/symptoms
PROTEIN INTERACTIONS: 2
1 associated gene
No signs/symptoms info
Epidermolytic palmoplantar keratoderma
Familial adenomatous polyposis due to 5q22.2 microdeletion

KRT1 APC
KRT16
KRT6C
KRT9


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KRT1
KRT9
(0.72)
(0.72)
APC
APC



Citations in the biomedical literature:


Epidermolytic palmoplantar keratoderma
KRT1 KRT16 KRT6C KRT9
Familial adenomatous polyposis due to 5q22.2 microdeletion
APC



Epidermolytic palmoplantar keratoderma
Familial adenomatous polyposis due to 5q22.2 microdeletion

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):
- Colorectal adenomatous polyposis due to monosomy 5q22.2
- FAP due to monosomy 5q22.2
- Familial adenomatous polyposis due to del(5)(q22.2)
- Familial adenomatous polyposis due to monosomy 5q22.2
- Familial polyposis coli due to monosomy 5q22.2

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

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

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

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



Familial adenomatous polyposis due to 5q22.2 microdeletion

(no data available)