Details of Disease

General Information of Disease (ID: DISZ0T7D)

Disease Name Palmoplantar keratoderma i, striate, focal, or diffuse
Synonyms
keratoderma, palmoplantar, striate form 1; SPPK1; keratosis palmoplantaris striata 1; PPKS1; palmoplantar keratoderma I, striate, focal, or diffuse; keratoderma, palmoplantar striate form 1; striate palmoplantar keratoderma 1; keratosis palmoplantaris striata i, AD; palmoplantar keratoderma i, striate, focal, or diffuse
Disease Hierarchy
DISRA08K: Hereditary palmoplantar keratoderma
DISZ0T7D: Palmoplantar keratoderma i, striate, focal, or diffuse
Disease Identifiers
MONDO ID
MONDO_0007859
MESH ID
C536162
UMLS CUI
C2931122
OMIM ID
148700
MedGen ID
419717

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
DSG1 OT11HC3A 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.