Details of Disease

General Information of Disease (ID: DISGLKBI)

Disease Name Focal palmoplantar keratoderma
Synonyms focal PPK; focal keratosis palmoplantaris; focal palmoplantar hyperkeratosis
Disease Hierarchy
DISRA08K: Hereditary palmoplantar keratoderma
DISGLKBI: Focal palmoplantar keratoderma
Disease Identifiers
MONDO ID
MONDO_0017672
MESH ID
C538682
UMLS CUI
C2931923
MedGen ID
419939
Orphanet ID
307837

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RHBDF2 TTH1ZOP Strong Genetic Variation [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 Strong Genetic Variation [2]
KRT6C OT9RXMPK Strong Genetic Variation [2]
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References

1 Tylosis esophageal cancer locus on chromosome 17q25.1 is commonly deleted in sporadic human esophageal cancer.Gastroenterology. 1998 Jun;114(6):1206-10. doi: 10.1016/s0016-5085(98)70426-3.
2 Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma.Eur J Dermatol. 2012 Jul-Aug;22(4):476-80. doi: 10.1684/ejd.2012.1773.