Details of Disease

General Information of Disease (ID: DISRA08K)

Disease Name Hereditary palmoplantar keratoderma
Synonyms hereditary keratosis palmoplantaris; hereditary palmoplantar keratosis; hereditary palmoplantar hyperkeratosis; hereditary PPK
Definition An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome.
Disease Hierarchy
DISYQGFB: Palmoplantar keratosis
DISIDQ39: Epidermal disease
DISSCALK: Hereditary skin disorder
DISRA08K: Hereditary palmoplantar keratoderma
Disease Identifiers
MONDO ID
MONDO_0019272
UMLS CUI
C0406757
MedGen ID
590657
Orphanet ID
79357
SNOMED CT ID
239066003

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
COL14A1 OTLNJ13O Limited Autosomal dominant [1]
COL20A1 OTIM1I9U Limited Autosomal dominant [1]
KRT9 OTA10UCH Limited Genetic Variation [2]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation.FEBS Lett. 1996 May 20;386(2-3):149-55. doi: 10.1016/0014-5793(96)00393-6.