PRPS1 deficiency disorder

Definition

A peripheral neuropathy that is characterized by variants in PRPS1, which causes decreased or impaired function of the PRPS1 enzyme, and presents as a range of peripheral neuropathies that can include features of Charcot-Marie Tooth syndrome, Arts syndrome, or nonsyndromic hearing loss.

Also known as PRPS1 deficiency disorder, PRPS1-related CMTX5/Arts syndrome/XLNSHL — per MONDO