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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P16442 | Histo-blood group ABO system transferase | |
| P78382 | CMP-sialic acid transporter | |
| Q92562 | Polyphosphoinositide phosphatase | |
| Q99999 | Galactosylceramide sulfotransferase |
