CTSK, cathepsin K, 1513

N. diseases: 221; N. variants: 36
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		0.800 Biomarker disease BEFREE Understanding the regulation and role of cathepsin K in osteoclast function is important for designing future therapies for pycnodysostosis. 12125807 2002
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		0.800 AlteredExpression disease BEFREE Mutation in CTSK gene is associated with loss of collagenolytic activity of CTSK leading to an autosomal recessive bone disorder called pycnodysostosis. 30199612 2018
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		0.800 GeneticVariation disease BEFREE The present study is the first to report a rare case of the coexistence of pycnodysostosis with a compound CTSK gene mutation and sporadic MTC. 29390266 2017
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		0.800 Biomarker disease BEFREE Our resultsshed lights on revealing new functions of CTSK and pathogenesis of pycnodysostosis in oral tissues. 28095448 2017
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		0.800 Biomarker disease BEFREE Cathepsin K deficiency in pycnodysostosis results in accumulation of non-digested phagocytosed collagen in fibroblasts. 12874701 2003
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		0.800 Biomarker disease BEFREE The CTSK gene was analyzed from genomic DNA in a nonconsanguinity Mexican family with 3 affected members with pycnodysostosis and 100 healthy controls. 21099701 2011
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		0.800 GeneticVariation disease BEFREE The human cathepsin K gene is highly expressed in osteoclasts and gene mutations cause pycnodysostosis, an autosomal recessive skeletal dysplasia. 8986645 1996
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		0.800 Biomarker disease BEFREE The generation and analysis of cathepsin K knockout mice has resulted in a model for pycnodysostosis, a rare human osteopetrotic disease, and is now providing considerable insights into both osteoclast function and potential therapeutic strategies for the treatment of bone disease. 10469835 1999
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		0.800 GeneticVariation disease BEFREE Up to date, 34 different CTSK mutations have been identified in patients with Pyknodysostosis; however, only one mutation was previously identified in a Chinese patient. 23506830 2013
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		0.800 GeneticVariation disease BEFREE Pycnodysostosis (OMIM # 265800) is an inherited lysosomal disorder due to affection of cathepsin K gene, localised to 1q21. 25304337 2015
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		0.800 Biomarker disease BEFREE These results provide evidence that a structural change in the signal peptide of the CK protein was involved in the pathogenesis of pycnodysostosis. 10634420 2000
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		0.800 GeneticVariation disease BEFREE In vitro studies revealed that mutant cathepsin K proteins causing Pycno did not degrade type I collagen, the protein that constitutes 95% of organic bone matrix. 10571690 1999
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		0.800 GeneticVariation disease BEFREE Pycnodysostosis (PYCD) is a rare recessive inherited skeletal disease, characterized by short stature, brittle bones, and recurrent fractures, caused by variants in the Cathepsin K encoding gene that leads to impaired osteoclast-mediated bone resorption. 31489468 2019
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		0.800 GeneticVariation disease BEFREE A Mutation in CTSK Gene in an Autosomal Recessive Pycnodysostosis Family of Chinese Origin. 25725806 2015
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		0.800 GeneticVariation disease BEFREE A novel missense mutation was identified in CTSK gene in a Pakistani family with 5 individuals affected with autosomal recessive pycnodysostosis. 20305575 2010
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		0.800 GeneticVariation disease BEFREE Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online. 17397052 2007
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		0.800 Biomarker disease BEFREE Patients with pycnodysostosis have been reported to present specific dental abnormalities; however, whether these dental abnormalities are related to dysfunctional CTSK has never been reported. 25731711 2015
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		0.800 GeneticVariation disease BEFREE This point mutation in exon 5 of the CTSK gene results in the typical clinical features found in Chinese patients with pycnodysostosis. 19215700 2009
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		0.800 GeneticVariation disease BEFREE Sanger sequencing of CTSK confirmed the 2 heterozygous variants and thus the patient was diagnosed with pycnodysostosis. 28328823 2017
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		0.800 Biomarker disease BEFREE The protein studies demonstrate that even significantly reduced cathepsin K levels do not have any phenotypic effect, whereas absent cathepsin K results in pycnodysostosis. 10491211 1999
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		0.800 GeneticVariation disease BEFREE Thirty three different CTSK mutations have been found in 59 unrelated pycnodysostosis families. 21569238 2011
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		0.800 Biomarker disease BEFREE Taken together, these results strongly suggest that functional cathepsin K is important for balanced bone turnover, and enzyme deficiency results in a profound deterioration of bone quality with respect to trabecular architecture and lamellar arrangement, which is presumably the reason for bone fragility in pycnodysostosis. 15070910 2004
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		0.800 Biomarker disease BEFREE Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features. 24767306 2014
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		0.800 GeneticVariation disease BEFREE Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region. 27558267 2016
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		0.800 GeneticVariation disease BEFREE Pycnodysostosis is linked to an inactivating mutation in the gene encoding cathepsin K, which is required for osteoclastic resorption. 11685426 2001