H00274 | |
H number | H00274 |
Name | Papillon-Lefevre syndrome |
Description | Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder caused by deficiency of cathepsin C, a lysosomal cysteine proteinase that functions by removing dipeptides from the amino termini of its substrates. The disease is characterized by palmoplantar keratoderma and juvenile periodontitis. |
Category | Inherited metabolic disorder, Lysosomal disease |
Network | - |
Gene | CTSC [HSA:1075] [KO:K01275] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C56.Y EC20.30 ICD-10: Q82.8 MeSH: D010214 OMIM: 245000 |
Reference | PMID:12509601 AUTHORS Almuneef M, Al Khenaizan S, Al Ajaji S, Al-Anazi A TITLE Pyogenic liver abscess and Papillon-Lefevre syndrome: not a rare association. JOURNAL Pediatrics 111:e85-8 (2003) DOI:10.1542/peds.111.1.e85 PMID:18401176 AUTHORS Nakajima K, Nakano H, Takiyoshi N, Rokunohe A, Ikenaga S, Aizu T, Kaneko T, Mitsuhashi Y, Sawamura D TITLE Papillon-Lefevre syndrome and malignant melanoma. A high incidence of melanoma development in Japanese palmoplantar keratoderma patients. JOURNAL Dermatology 217:58-62 (2008) DOI:10.1159/000124340 PMID:1883197 AUTHORS Neufeld EF TITLE Lysosomal storage diseases. JOURNAL Annu Rev Biochem 60:257-80 (1991) DOI:10.1146/annurev.bi.60.070191.001353 |