General Information of Disease (ID: DISBZU6Y)

Disease Name Epidermolytic palmoplantar keratoderma
Synonyms
hyperkeratosis, localized epidermolytic; epidermolytic palmoplantar keratoderma of Vrner; keratosis of Greither; keratoderma, epidermolytic palmoplantar; palmoplantar keratoderma, epidermolytic; Ppke; palmoplantar keratoderma, epidermolytic, with knuckle pads; tylosis; hyperkeratosis palmoplantar localised epidermolytic; diffuse erythrodermic palmoplantar keratoderma, Vrner type; hyperkeratosis, localised epidermolytic; keratosis palmaris Et plantaris Familiaris; hyperkeratosis palmoplantar localized epidermolytic; palmoplantar keratoderma, Vorner type; diffuse erythrodermic palmoplantar keratoderma, VC6rner type; diffuse erythrodermic palmoplantar keratoderma, Voerner type; epidermolytic palmoplantar keratoderma of Voerner; EPPK; epidermolytic palmoplantar keratoderma of VC6rner
Definition A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas.
Disease Hierarchy
DIS6O9JS: Diffuse palmoplantar keratoderma
DISBZU6Y: Epidermolytic palmoplantar keratoderma

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KRT9 OTA10UCH Definitive Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.