Details of Disease

General Information of Disease (ID: DISU4FYE)

Disease Name Keratosis palmoplantaris striata 2
Synonyms
PPKS2; striate palmoplantar keratoderma 2; keratosis palmoplantaris striata II; keratoderma, palmoplantar, striate form 2; keratosis palmoplantaris striata type 2; DSP striate palmoplantar keratoderma; striate palmoplantar keratoderma caused by mutation in DSP
Definition Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the DSP gene.
Disease Hierarchy
DISLGEYP: Striate palmoplantar keratoderma
DISU4FYE: Keratosis palmoplantaris striata 2
Disease Identifiers
MONDO ID
MONDO_0013034
MESH ID
C565102
UMLS CUI
C1852127
OMIM ID
612908
MedGen ID
343725

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
DSP OTB2MOP8 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.