| Entry |
Name |
Description |
Category |
Pathway |
Gene |
|
H00274
|
Papillon-Lefevre syndrome
|
Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder caused by deficiency of cathepsin C, a lysosomal cysteine proteinase that functions by removing dipeptides from the amino termini of its ...
|
Inherited metabolic disorder, Lysosomal disease
|
|
CTSC [HSA:1075] [KO:K01275]
|
|
H00425
|
Lysosomal cysteine protease deficiencies
|
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 ...
|
Inherited metabolic disorder, Lysosomal disease
|
|
(PLS) CTSC [HSA:1075] [KO:K01275]
(Pycnodysostosis) CTSK [HSA:1513] [KO:K01371]
|
|
H00696
|
Haim-Munk syndrome
Keratosis palmoplantaris periodontopathia onychogryposis
|
Haim-Munk syndrome is a rare autosomal recessive disorder of keratinization characterized by palmoplantar hyperkeratosis and marked periodontitis. Additional features include onychogryphosis, arachnodactyly ...
|
Congenital malformation
|
|
CTSC [HSA:1075] [KO:K01275]
|
|
H02050
|
Prepubertal periodontitis
|
Prepubertal periodontitis (PPP) is a rare and rapidly progressive disease of young children that results in destruction of the periodontal support of the primary dentition. Both autosomal dominant and ...
|
Digestive system disease
|
|
CTSC [HSA:1075] [KO:K01275]
|