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I’m patient #1 with a particular ACAN gene (aggrecan) mutation. The variant is located in the G3 C-Type Lectin Domain of the ACAN gene. I’m searching for another patient with the same mutation. Please reach out if you/someone you know sounds similar.

Symptoms include: Familial Osteochondritis Dissecans (OCD), early onset Osteoarthritis (OA), Femoral Acetabular Impingement (FAI), Hallux Rigidus, Freiberg’s Infraction, Shoulder Impingement, hand tendonitis, joint laxity.
And: positive Anti-Nuclear Antibody (ANA), positive HLA-B27 marker, primary Raynauds Phenomenon.
Joint and cartilage involvement: hips, knees, feet, back, shoulders, hands. Symptoms began as a teenager.

Diferential diagnosis has included the following, including numerous connective tissue disorders: Ehlers-Danlos Syndrome (EDS), Stickler Syndrome, Loeys-Dietz syndrome, and Seronegative Spondyloarthropathy.
Please find more info here: https://mygene2.org/MyGene2/variantsbygene?gene=ACAN
Thank you!