ACAN - Gene browser

ACAN

aggrecan

HCNC Approved Symbol: ACAN (HGNC:319)
Genomic Coordinates: 15:88,803,436 - 88,875,353 (15q26.1)
Synonyms: CSPGCP, MSK16, CSPG1, AGC1
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

15Patients

In total, 15 patients were diagnosed with a variant in the ACAN gene.

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

015
Patient count

Short stature: 9 (60.0%)
Patient Count: 9 (60.0%)
% of total patients presenting each phenotype is shown in parentheses.
9 (60.0%)
Severe short stature: 3 (20.0%)
Patient Count: 3 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (20.0%)
Advanced bone age: 2 (13.3%)
Patient Count: 2 (13.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (13.3%)
Skeletal dysplasia: 2 (13.3%)
Patient Count: 2 (13.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (13.3%)
Precocious puberty: 2 (13.3%)
Patient Count: 2 (13.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (13.3%)