KEGG   DISEASE: Lysosomal cysteine protease deficiencies
Entry
H00425                      Disease                                
Name
Lysosomal cysteine protease deficiencies
  Subgroup
Papillon-Lefevre syndrome (PLS) [DS:H00274]
Pycnodysostosis [DS:H00273]
  Supergrp
Lysosomal storage disease [DS:H01425]
Description
Defects in lysosomal cysteine proteases (Cathepsins) are autosomal recessive lysosomal storage diseases. To date only following two human cathepsin deficiencies have been described, though there are eleven lysosomal cysteine proteases. Deficiency of cathepsin C leads to Papillon-Lefevre syndrome characterized by palmoplantar hyperkeratosis and severe early onset periodontitis. Deficiency of cathepsin K leads to pycnodysostosis characterized by osteosclerosis and short stature. Recent findings suggest a more expanded role for cathepsins in human biology.
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
     H00425  Lysosomal cysteine protease deficiencies
Pathway
hsa04142  Lysosome
hsa04210  Apoptosis
Gene
(PLS) CTSC [HSA:1075] [KO:K01275]
(Pycnodysostosis) CTSK [HSA:1513] [KO:K01371]
Other DBs
ICD-11: 5C56.Y
ICD-10: Q82.8
OMIM: 245000 265800
Reference
  Authors
Winchester B
  Title
Lysosomal metabolism of glycoproteins.
  Journal
Glycobiology 15:1R-15R (2005)
DOI:10.1093/glycob/cwi041
Reference
PMID:9074757
  Authors
Chapman HA, Riese RJ, Shi GP
  Title
Emerging roles for cysteine proteases in human biology.
  Journal
Annu Rev Physiol 59:63-88 (1997)
DOI:10.1146/annurev.physiol.59.1.63
Reference
PMID:18401176 (CTSC)
  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:19338743 (CTSK)
  Authors
Zhao Q, Jia Y, Xiao Y
  Title
Cathepsin K: a therapeutic target for bone diseases.
  Journal
Biochem Biophys Res Commun 380:721-3 (2009)
DOI:10.1016/j.bbrc.2009.01.139

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