Features include always present findings: Accelerated skeletal maturation; and very common findings: Short stature. 15 total HPO annotations.

ACAN encodes aggrecan (2,530 aa). This proteoglycan is a major component of extracellular matrix of cartilagenous tissues. A major function of this protein is to resist compression in cartilage. Highest expression in Artery Tibial (34.4 TPM) and Artery Aorta (21.7 TPM).

Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans is associated with mutations in the ACAN gene on chromosome 15.

ACAN is classified as a druggable target (Druggable Genome category) with score 0.0.

74 pathogenic variants reported in ACAN in ClinVar.

Genetic testing for ACAN is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 1 very common feature, 5 common features.

Estimated prevalence: Unknown (Unknown prevalence).

No clinical trials have been registered for short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans.

204 publications have been identified in PubMed for short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans. Kisho has analyzed 134 by research type. Research spans Review / Meta-Analysis (46%), Clinical Trial Publication (16%), and Epidemiology / Natural History (13%).