mal de Meleda

Summary
Synonym
  • Meleda disease
  • keratosis palmoplantaris transgrediens of Siemens
  • transgrediens palmoplantar keratoderma of Siemens
Definition
A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has_material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24.
Super Class
palmoplantar keratosis
External Links
Disease Ontology
DOID:0060862
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entry 21 - 21 of 21 in total
Gene ID Gene Symbol Description Source
126792 B3GALT6 beta-1,3-galactosyltransferase 6

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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: August 19, 2024