Details of Disease

General Information of Disease (ID: DISDW4KK)

Disease Name Palmoplantar keratoderma, Nagashima type
Synonyms PPKN; palmoplantar hyperkeratosis, Nagashima type; palmoplantar keratoderma, Nagashima type; PPK, Nagashima type
Definition Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda.
Disease Hierarchy
DIS6O9JS: Diffuse palmoplantar keratoderma
DISDW4KK: Palmoplantar keratoderma, Nagashima type
Disease Identifiers
MONDO ID
MONDO_0014272
UMLS CUI
C3810072
OMIM ID
615598
MedGen ID
816402
Orphanet ID
140966
SNOMED CT ID
722205008

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
SERPINB7 OTZ95LR2 Strong Autosomal recessive [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.