Pycnodysostosis is a lysosomal storage disease of the bone caused by a mutation in the gene that codes for the enzyme cathepsin K. The name comes from the Greek puknos, meaning dense, together with the prefix dys-, meaning defective, and the suffix -ostosis, meaning a condition of the bone, and so describes a bone condition marked by dense but defective bone. The disorder is also abbreviated PKND and PYCD. The short source lead supports only these points, so the account here is intentionally brief.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2 Communicable or Non-communicable Causative Agent
Causative Agent (category) Prevalence Band Sources
1. Pycnodysostosis (Wikipedia)
Lead paragraph, first sentence
caused by a mutation in the gene that codes the enzyme cathepsin K
Lead paragraph, first sentence [body-system]
is a lysosomal storage disease of the bone
View the Source2. Orphadata (Orphanet): Orphadata cross-references, ORPHAcode 763
Orphadata (Orphanet)Orphanet cross-reference to ICD-10, chapter derived from the codeQuote, Orphanet cross-reference to ICD-10, chapter derived from the code
"Reference": "Q78.8", "Source": "ICD-10"
3. National Cancer Institute (NCI Thesaurus): Pycnodysostosis - NCI Thesaurus concept C131187
National Cancer Institute (NCI Thesaurus)DefinitionQuote, Definition
An autosomal recessive disorder caused by loss-of-function mutation(s) in the CTSK gene, encoding cathepsin K, an enzyme involved in bone resorption by osteoclasts.
4. Orphadata (Orphanet): Orphadata epidemiology, ORPHAcode 763
Orphadata (Orphanet)Orphanet epidemiology, ORPHAcode 763Quote, Orphanet epidemiology, ORPHAcode 763
"PrevalenceClass": "1-9 / 1 000 000", "PrevalenceGeographic": "Worldwide", "PrevalenceQualification": "Value and class", "PrevalenceType": "Point prevalence"
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