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pycnodysostosis
Pycnodysostosis (from Greek: πυκνός (puknos) meaning "dense", ''dys'' ("defective"), and ''ostosis'' ("condition of the bone")), is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K.
==Genetics==
This is an autosomal recessive osteochondrodysplasia that maps to chromosome 1q21.〔 Deficiency of Cathepsin K, a cysteine protease in osteoclasts, is known to cause this condition. Cathepsin K became a much sought-after drug target in osteoporosis after the etiology of pycnodysostosis was discovered. The disease consistently causes short stature. The height of adult males with the disease is less than . Adult females with the syndrome are even shorter.
The disease has been named Toulouse-Lautrec syndrome, after the French artist Henri de Toulouse-Lautrec, who may have had the disease. In 1996, the defective gene responsible for pycnodysostosis was located, offering accurate diagnosis, carrier testing and a more thorough understanding of this disorder.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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