PLACK syndrome

Summary
Synonym
  • peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
Definition
An skin disease characterized by peeling skin in association with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads that has_material_basis_in homozygous mutation in the CAST gene on chromosome 5q15.
Super Class
autosomal recessive disease skin disease
Disease Ontology
DOID:0070526
Mondo Disease Ontology
UMLS
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
831 CAST calpastatin
Displaying 1 entry
Gene ID Gene Symbol Description Source
12380 Cast calpastatin

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024