Details of Disease

General Information of Disease (ID: DIS6O9JS)

Disease Name Diffuse palmoplantar keratoderma
Synonyms diffuse keratosis palmoplantaris; diffuse PPK; diffuse palmoplantar hyperkeratosis
Definition Palmoplantar keratoderma that diffusely involves most of the palm and sole and is caused by a genetic abnormality.
Disease Hierarchy
DISRA08K: Hereditary palmoplantar keratoderma
DIS6O9JS: Diffuse palmoplantar keratoderma
Disease Identifiers
MONDO ID
MONDO_0017666
MESH ID
D015776
UMLS CUI
C0022584
MedGen ID
7201
HPO ID
HP:0007447
Orphanet ID
307141
SNOMED CT ID
400123002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KRT16 OTGA0EQN Limited Genetic Variation [1]
KRT1 OTIOJWA4 Strong Genetic Variation [2]
SLURP1 OT89YD2E Strong Biomarker [3]
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References

1 Rhomboid family member 2 regulates cytoskeletal stress-associated Keratin 16.Nat Commun. 2017 Jan 27;8:14174. doi: 10.1038/ncomms14174.
2 Novel Splice-Site Mutation of KRT1 Underlies Diffuse Palmoplantar Keratoderma in a Large Chinese Pedigree.Genet Test Mol Biomarkers. 2018 Nov 21. doi: 10.1089/gtmb.2018.0154. Online ahead of print.
3 IL-22/STAT3-Induced Increases in SLURP1 Expression within Psoriatic Lesions Exerts Antimicrobial Effects against Staphylococcus aureus.PLoS One. 2015 Oct 16;10(10):e0140750. doi: 10.1371/journal.pone.0140750. eCollection 2015.