Papillon-Lefevre disease

Summary
Synonym
  • Papillon Lefevre syndrome
  • Papillon-Lefvre syndrome
Definition
An ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and has_material_basis_in homozygous or compound heterozygous mutation in the cathepsin C gene on chromosome 11q14.
Super Class
autosomal recessive disease ectodermal dysplasia tooth disease
External Links
Disease Ontology
DOID:3389
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
28 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
9514 GAL3ST1 galactose-3-O-sulfotransferase 1
9896 FIG4 FIG4 phosphoinositide 5-phosphatase
10559 SLC35A1 solute carrier family 35 member A1

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024