Problem

Pycnodysostosis

Nature:

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. It is also known as PKND and PYCD.

Broader Problems:
Lysosomal storage diseases
Problem Type:
G: Very specific problems
Date of last update
04.10.2020 – 22:48 CEST