KEGG   DISEASE: Pycnodysostosis
Entry
H00273                      Disease                                
Name
Pycnodysostosis
  Supergrp
Lysosomal cysteine protease deficiencies [DS:H00425]
Lysosomal storage disease [DS:H01425]
Description
Pycnodysostosis is an autosomal recessive skeletal disorder caused by deficiency of cathepsin K in the metabolism of the skeletal system, causing defects in bone resorption and bone remodeling. Pycnodysostosis is characterized by short stature, osteosclerosis, acroosteolysis, separated cranial sutures with open fontanelles, bone fragility, and loss of mandibular angle.
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
     H00273  Pycnodysostosis
Pathway
hsa04620  Toll-like receptor signaling pathway
hsa04380  Osteoclast differentiation
hsa04142  Lysosome
Gene
CTSK [HSA:1513] [KO:K01371]
Comment
It is suggested that cathepsin K plays an important role in the immune system.
Other DBs
ICD-11: 5C56.Y
ICD-10: E88.9
MeSH: D058631
OMIM: 265800
Reference
PMID:8703060
  Authors
Gelb BD, Shi GP, Chapman HA, Desnick RJ
  Title
Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency.
  Journal
Science 273:1236-8 (1996)
DOI:10.1126/science.273.5279.1236
Reference
PMID:14756243
  Authors
Goto T, Yamaza T, Tanaka T
  Title
Cathepsins in the osteoclast.
  Journal
J Electron Microsc (Tokyo) 52:551-8 (2003)
DOI:10.1093/jmicro/52.6.551
Reference
PMID:19338743
  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
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
Reference
PMID:18239127 (immune system)
  Authors
Asagiri M, Hirai T, Kunigami T, Kamano S, Gober HJ, Okamoto K, Nishikawa K, Latz E, Golenbock DT, Aoki K, Ohya K, Imai Y, Morishita Y, Miyazono K, Kato S, Saftig P, Takayanagi H
  Title
Cathepsin K-dependent toll-like receptor 9 signaling revealed in experimental arthritis.
  Journal
Science 319:624-7 (2008)
DOI:10.1126/science.1150110
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