Papillon-lefevre syndrome

Preferred Label : Papillon-lefevre syndrome;

Symbol : PALS;

CISMeF acronym : PALS; PLS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Keratosis palmoplantaris with periodontopathia; PLS;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cathepsin C gene (CTSC, 602365.0001);

Prefixed ID : #245000;

Details

Origin ID

245000;

UMLS CUI

C0030360;

Automatic exact mappings (from CISMeF team)
- HOXA10 wt Allele [NCIt concept]
- Homeobox Protein Hox-A10 [NCIt concept]
- Lateral decubitus position (finding) [SNOMED CT concept]
- Papillon-Lefevre syndrome [MedDRA Preferred Term]
- Periarterial lymphatic sheath [FMA entity]
- Picoliter [NCIt concept]
- Picoliter (qualifier value) [SNOMED CT concept]
- Pleomorphic liposarcoma [ORDO Disease]
- Poland [NCIt concept]
- Primary lateral sclerosis [ORDO Disease]
- With (attribute) [SNOMED CT concept]
- peptidylamidoglycolate lyase activity [GO term]
- periarterial lymphatic sheath [UBERON concept]
- phenylalanine ammonia-lyase activity [GO term]
- posterior ascending limb of lateral sulcus [UBERON concept]
- symbol withdrawn PALS [HGNC gene]
Currated CISMeF NLP mapping
- Papillon-Lefevre Syndrome [NCIt concept]
- Papillon-Lefevre disease [Disease (Nov.)]
- Papillon-Lefevre disease [MeSH concept]
- Papillon-Lefèvre syndrome [ICD-11 More detail]
- Papillon-Lefèvre syndrome [ORDO Disease]
- Papillon-Lefèvre syndrome (disorder) [SNOMED CT concept]
- papillon-lefevre disease [MeSH Descriptor]
- papillon-lefevre syndrome [SNOMED Notion]
DO Cross reference
- Papillon-Lefevre disease [DO Concept]
False automatic mappings
- Pyothorax-Associated Lymphoma [NCIt concept]
Genes related to phenotype
- Cathepsin C [OMIM gene]
HPO term(s)
- Atrophy of alveolar ridges [HPO term]
- Autosomal recessive inheritance [HPO term]
- Choroid plexus calcification [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
- Premature loss of teeth [HPO term]
- Severe periodontitis [HPO term]
ORDO concept(s)
- Papillon-Lefèvre syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Papillon-Lefevre Syndrome [NCIt concept]
- Papillon-Lefevre disease [MeSH concept]
- Papillon-Lefevre disease [DO Concept]
- Papillon-Lefevre disease [Disease (Nov.)]
- Papillon-Lefevre syndrome [MedDRA Preferred Term]
- Papillon-Lefèvre syndrome [ORDO Disease]
- Papillon-Lefèvre syndrome [ICD-11 More detail]
- Papillon-Lefèvre syndrome (disorder) [SNOMED CT concept]
- papillon-lefevre disease [MeSH Descriptor]
- papillon-lefevre syndrome [SNOMED Notion]

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