Papillon-Lefevre disease
Information
- Disease name
- Papillon-Lefevre disease
- Disease ID
- DOID:3389
- Description
- "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." [url:https\://en.wikipedia.org/wiki/Papillon–Lefevre_syndrome, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4507741/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01116934 | Completed | Cytokines in Papillon-Lefèvre Syndrome | July 2006 | December 2009 |
- Disase is a (Disease Ontology)
- DOID:2121
- Cross Reference ID (Disease Ontology)
- GARD:3100
- Cross Reference ID (Disease Ontology)
- MESH:D010214
- Cross Reference ID (Disease Ontology)
- MIM:245000
- Cross Reference ID (Disease Ontology)
- NCI:C84992
- Cross Reference ID (Disease Ontology)
- ORDO:678
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:40158001
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0030360
- Exact Synonym (Disease Ontology)
- Papillon Lefevre syndrome
- Exact Synonym (Disease Ontology)
- Papillon-Lefvre syndrome
- MeSH unique ID (MeSH (Medical Subject Headings))
- D010214