KEGG   DISEASE: Papillon-Lefevre syndrome
Entry
H00274                      Disease                                
Name
Papillon-Lefevre syndrome
  Supergrp
Lysosomal cysteine protease deficiencies [DS:H00425]
Lysosomal storage disease [DS:H01425]
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H00274  Papillon-Lefevre syndrome
 14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC20  Genetic disorders of keratinisation
    H00274  Papillon-Lefevre syndrome
Pathway
hsa04142  Lysosome
hsa04210  Apoptosis
Gene
CTSC [HSA:1075] [KO:K01275]
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
Reference
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
Reference
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
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