CTSK - Gene browser

CTSK

cathepsin K

HCNC Approved Symbol: CTSK (HGNC:2536)
Genomic Coordinates: 1:150,796,208 - 150,808,260 (1q21.3)
Synonyms: PKND, CTSO2, CTSO, PYCD
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

6Patients

In total, 6 patients were diagnosed with a variant in the CTSK gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

06
Patient count

Short stature: 5 (83.3%)
Patient Count: 5 (83.3%)
% of total patients presenting each phenotype is shown in parentheses.
5 (83.3%)
Micrognathia: 3 (50.0%)
Patient Count: 3 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (50.0%)
Bone fractures: 3 (50.0%)
Patient Count: 3 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (50.0%)
Facial dysmorphism: 3 (50.0%)
Patient Count: 3 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (50.0%)
Autistic features: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)