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palmoplantar keratoderma, punctate type 1A
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any punctate palmoplantar keratoderma in which the cause of the disease is a mutation in the AAGAB gene.
Uniprot Description An autosomal dominant dermatological disorder characterized by multiple hyperkeratotic, centrally indented, papules that develop in early adolescence, or later, and are irregularly distributed on the palms and soles (other palmoplantar keratoses have mostly diffuse hyperkeratinization). In mechanically irritated areas, confluent plaques can be found. Interfamilial and intrafamilial severity shows broad variation. In some cases, PPKP1 is associated with the development of early- and late-onset malignancies, including squamous cell carcinoma.
Mondo Term and Equivalent IDs
MONDO:0007858: palmoplantar keratoderma, punctate type 1A
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0080214
OMIM:148600
MONDO:0007858
High level summary of knowledge for a disease, including descriptions and datasource references.