H00425 | |
H number | H00425 |
Name | Lysosomal cysteine protease deficiencies |
Description | Defects in lysosomal cysteine proteases (Cathepsins) are autosomal recessive lysosomal storage diseases. To date only following two human cathepsin deficiencies have been described, though there are eleven lysosomal cysteine proteases. Deficiency of cathepsin C leads to Papillon-Lefevre syndrome characterized by palmoplantar hyperkeratosis and severe early onset periodontitis. Deficiency of cathepsin K leads to pycnodysostosis characterized by osteosclerosis and short stature. Recent findings suggest a more expanded role for cathepsins in human biology. |
Category | Inherited metabolic disorder, Lysosomal disease |
Network | - |
Gene | (PLS) CTSC [HSA:1075] [KO:K01275] (Pycnodysostosis) CTSK [HSA:1513] [KO:K01371] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C56.Y ICD-10: Q82.8 OMIM: 245000 265800 |
Reference | PMID:15647514 AUTHORS Winchester B TITLE Lysosomal metabolism of glycoproteins. JOURNAL Glycobiology 15:1R-15R (2005) DOI:10.1093/glycob/cwi041 PMID:9074757 AUTHORS Chapman HA, Riese RJ, Shi GP TITLE Emerging roles for cysteine proteases in human biology. JOURNAL Annu Rev Physiol 59:63-88 (1997) DOI:10.1146/annurev.physiol.59.1.63 PMID:18401176 (CTSC) AUTHORS Nakajima K, Nakano H, Takiyoshi N, Rokunohe A, Ikenaga S, Aizu T, Kaneko T, Mitsuhashi Y, Sawamura D TITLE Papillon-Lefevre syndrome and malignant melanoma. A high incidence of melanoma development in Japanese palmoplantar keratoderma patients. JOURNAL Dermatology 217:58-62 (2008) DOI:10.1159/000124340 PMID:19338743 (CTSK) 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 |