CTSC, cathepsin C, 1075

N. diseases: 139; N. variants: 23
Disease: Tooth Loss ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0080233
Disease: Tooth Loss
Tooth Loss 		0.010 GeneticVariation disease BEFREE Papillon-Lefevre syndrome (PLS; OMlM 245000) is an autosomal recessive disease caused by mutations in cathepsin C (CTSC) gene and is characterized by palmoplantar keratoderma, psoriasiform lesion over the extensor surfaces and gingivitis followed by loss of teeth. 20236208 2010