All cases of JS are caused by de novo missense point mutations in PPP2R5D, which encodes a subunit of the enzyme PP2A. At least 8 different pathogenic mutations have been identified: E197K, E198K, E200K, E420K, P201R, W207R, Q211P, and P53S. Patients are exclusively diagnosed with JS upon discovery of a pathogenic variant of PPP2R5D via genetic testing. As of 2019, at least 23 individuals with JS have been reported.
Jordan's Syndrome
Cervicitis
Acute prostatitis
Appendicitis
Hidradenitis
Otitis externa
Urethral syndrome
Sacroiliitis