Details of Disease | DrugMAP

General Information of Disease (ID: DISMJ8CK)

Disease Name	Pycnodysostosis
Synonyms	PKND; Pycd; pycnodysostosis; Pyknodysostosis
Definition	Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery.
Disease Hierarchy	DIS9SPWW: Osteochondrodysplasia DIS7GHNM: Osteopetrosis DIS6QM6U: Lysosomal storage disease DISMJ8CK: Pycnodysostosis
Disease Identifiers	MONDO ID MONDO_0009940 MESH ID D058631 UMLS CUI C0238402 OMIM ID 265800 MedGen ID 116061 Orphanet ID 763 SNOMED CT ID 89647000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CTSK	DEG3S8C	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CTSK	OTT3YX5O	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.