Details of Disease

General Information of Disease (ID: DISR6U95)

Disease Name Isolated focal non-epidermolytic palmoplantar keratoderma
Synonyms palmoplantar keratoderma, nonepidermolytic, focal 2; FNEPPK2; palmoplantar keratoderma, nonepidermolytic, focal type 2
Disease Hierarchy
DISGLKBI: Focal palmoplantar keratoderma
DISR6U95: Isolated focal non-epidermolytic palmoplantar keratoderma
Disease Identifiers
MONDO ID
MONDO_0014622
UMLS CUI
C4225339
OMIM ID
616400
MedGen ID
895056
Orphanet ID
448264

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TRPV3 TT946IA Limited Biomarker [1]
TRPV3 TT946IA Supportive Autosomal dominant [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KRT16 OTGA0EQN Supportive Autosomal dominant [2]
TRPV3 OTC57YC6 Supportive Autosomal dominant [1]
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References

1 A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family. J Invest Dermatol. 2015 Mar;135(3):907-909. doi: 10.1038/jid.2014.429. Epub 2014 Oct 6.
2 Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families. Hum Mol Genet. 1995 Oct;4(10):1875-81. doi: 10.1093/hmg/4.10.1875.