| H00273 | |
| H number | H00273 |
| Name | Pycnodysostosis |
| 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 |
| Network | - |
| Gene | CTSK [HSA:1513] [KO:K01371] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| 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 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 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 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 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 |