CTSC, cathepsin C, 1075

N. diseases: 139; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE Late-onset Papillon-Lefèvre syndrome without alteration of the cathepsin C gene. 14576640 2003
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE Cathepsin C (CTSC) mutations are known to cause Papillon-Lefèvre syndrome. 18809751 2008
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE In the present study we investigated the CTSC gene in a Brazilian cohort affected by PLS. 11922261 2002
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE HMS and PLS have been associated with homozygous or compound heterozygous mutations in the lysosomal protease gene Cathepsin C (CTSC). 31846207 2020
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE A previously reported missense mutation in the CTSC gene (NM_001814.4:c.899G>A:p.(G300D)) was identified in a homozygous state in two siblings diagnosed with PLS in a consanguineous family of Arabic ancestry. 25799584 2015
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE Evidence for a founder mutation in the cathepsin C gene in three families with Papillon-Lefèvre syndrome. 19816003 2009
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE CTSC compound heterozygous mutations in two Chinese patients with Papillon-Lefèvre syndrome. 30908832 2019
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease UNIPROT The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis. 14974080 2004
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE This study reports two novel deletion mutation of the CTSC gene in two Indian families with PLS. 16460249 2006
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease UNIPROT Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome. 11886537 2001
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE Here, we characterized a 24-year-old woman who had suffered from severe juvenile periodontal disease, but was otherwise healthy, and identified a homozygous missense mutation in CTSC indicative of PLS. 25244098 2014
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE A genetic study of cathepsin C gene in two families with Papillon-Lefèvre syndrome. 12809647 2003
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive disease associated with loss-of-function mutations in the DPPI gene locus. 15585850 2004
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE To determine if a cathepsin C mutation is also responsible for HMS, we sequenced the gene in affected and unaffected subjects from the Cochin isolate in which both the PLS and HMS phenotypes appear. 10662807 2000
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease UNIPROT Gene symbol: CTSC. Disease: Papillon-Lefevre syndrome. 15991336 2005
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE Mutational analysis of the CTSC gene in three North American families segregating PLS identified four mutations, including a novel mutation p.G139R. 12112662 2002
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE A novel mutation in the cathepsin C gene in a Pakistani family with Papillon-Lefevre syndrome. 20236208 2010
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE Cathepsin C (CTSC) gene mutations are etiologic for PLS. 16332247 2005
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE Together, these findings indicate that both homozygous and heterozygous mutations in the cathepsin C heavy chain domain may lead to classical PLS phenotype, suggesting roles for epistasis or gene-environment interactions on determination of PLS phenotypes. 31282082 2019
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE Mutations of the lysosomal protease cathepsin C (CTSC) gene have been shown to be the genetic cause of Papillon-Lefèvre syndrome. 17652201 2007
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndrome. 17943190 2008
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE A total of 25 different cathepsin C mutations have been reported in 32 families with Papillon-Lefèvre syndrome (PLS) and associated conditions. 11158173 2001
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation. 11180601 2001
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE Cathepsin C gene 5'-untranslated region mutation in papillon-lefèvre syndrome. 23108224 2012
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE To evaluate the generality of cathepsin C mutations in PLS, we studied an ethnically diverse group of 20 unrelated families. 11106356 2000