Details of Disease

General Information of Disease (ID: DISNOMYP)

Disease Name Palmoplantar keratoderma, nonepidermolytic, focal 1
Synonyms
focal nonepidermolytic palmoplantar keratoderma; FNEPPK1; Ppkfne; keratoderma, focal nonepidermolytic palmoplantar; palmoplantar keratoderma, nonepidermolytic, focal type 1; palmoplantar keratoderma, nonepidermolytic, focal 1; nonepidermolytic palmoplantar keratoderma caused by mutation in KRT16; palmoplantar keratoderma, nonepidermolytic, focal; KRT16 nonepidermolytic palmoplantar keratoderma
Definition Any nonepidermolytic palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT16 gene.
Disease Hierarchy
DISGLKBI: Focal palmoplantar keratoderma
DISNOMYP: Palmoplantar keratoderma, nonepidermolytic, focal 1
Disease Identifiers
MONDO ID
MONDO_0013073
UMLS CUI
C4552049
OMIM ID
613000
MedGen ID
1644485

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
KRT16 OTGA0EQN Strong Autosomal dominant [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.