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 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 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 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 Biomarker disease BEFREE This study evaluated the performance of classical front face (FFFS) and synchronous (SFS) fluorescence spectroscopy combined with Partial Least Square Discriminant Analysis (PLSDA), Support Vector Machine associated with PLS (PLS-SVM) and Principal Components Analysis (PCA-SVM) to discriminate three beef muscles (Longissimus thoracis, Rectus abdominis and Semitendinosus). 29154219 2018
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE Several loss-of-function mutations in the CatC gene have been shown to be the genetic mark of Papillon-Lefèvre syndrome (PLS), a rare autosomal recessive disease characterized by severe early-onset periodontitis, palmoplantar hyperkeratosis, and increased susceptibility to infections. 29410039 2018
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 Biomarker disease BEFREE The pathological deficiency in CatC is associated with Papillon-Lefèvre syndrome (PLS). 29842917 2018
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE We first studied neutrophilic PR3 from 24 patients with Papillon-Lefèvre syndrome (PLS), a genetic form of CatC deficiency. 29925593 2018
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE Loss of function mutations in the CatC gene is associated with lack of immune cell serine protease activities and cause Papillon-Lefèvre syndrome (PLS). 28193451 2017
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 AlteredExpression disease BEFREE Screening for the absence of urinary CatC activity soon after birth and early treatment before the onset of PLS manifestations will help to prevent aggressive periodontitis and loss of many teeth, and should considerably improve the quality of life of PLS patients. 26607765 2016
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE This rare disorder is caused by loss-of-function mutations in the CTSC gene, which encodes cathepsin C. We report six patients with Papillon-Lefèvre syndrome from five consanguineous Turkish families, in whom genetic analysis of the CTSC gene revealed four recurrent mutations (c.415G>A; c.1015C>T; c.1019A>G; and c.103-105delCTG) and a novel missense mutation (c.117G>T) in the homozygous state. 27062382 2016
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 Biomarker disease BEFREE We collected 5 mL peripheral blood from a patient with PLS and her family members and used the direct sequencing method to perform CTSC bidirectional sequencing. 26385525 2016
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE Papillon-Lefévre syndrome (PLS; OMIM 245000) and Haim-Munk syndromes (HMS; OMIM 245010) are phenotypic variants of the same rare disease caused by mutations of the cathepsin C (CTSC) gene, and they exhibit autosomal recessive inheritance. 26205983 2016
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 Papillon-Lefèvre syndrome with homozygous nonsense mutation of cathepsin C gene presenting with late-onset periodontitis. 24894642 2015
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease UNIPROT 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 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 Biomarker disease BEFREE The absence of LL-37 in PLS patients coincided with the deficiency of both cathepsin C and protease 3 activities. 25260376 2014
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease CLINVAR CTSC and Papillon-Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update. 24936511 2014
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE Mutations of the lysosomal protease cathepsin C gene (CTSC) have been shown to be the genetic cause of PLS. 24374475 2014
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 AlteredExpression disease BEFREE To understand the basis of PLS in Mexicans, the gene expression, enzymatic activity and mutational analysis of CTSC were assayed in nine PLS patients and their relatives. 23311634 2013
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE A novel seven-base deletion of the CTSC gene identified in a Hungarian family with Papillon-Lefèvre syndrome. 23397598 2013
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 Blood was sampled from eight PLS patients (one female) from six families (antiinfective therapy completed: six; edentulous: two) with confirmed cathepsin C mutations and deficient enzyme activity.Nine healthy males served as controls. 21380503 2012
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE A point mutation of cathepsin C gene has recently been detected in PLS. 21165749 2011