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H00273
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Pycnodysostosis
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Pycnodysostosis is an autosomal recessive skeletal disorder caused by deficiency of cathepsin K in the metabolism of the skeletal system, causing defects in bone resorption and bone remodeling. Pycnodysostosis ...
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Inherited metabolic disorder, Lysosomal disease
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CTSK [HSA:1513] [KO:K01371]
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H00425
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Lysosomal cysteine protease deficiencies
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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 ...
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Inherited metabolic disorder, Lysosomal disease
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(PLS) CTSC [HSA:1075] [KO:K01275]
(Pycnodysostosis) CTSK [HSA:1513] [KO:K01371]
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