has material basis in germline mutation in disease has feature PRPS1 Arts syndrome Charcot-Marie-Tooth disease nonsyndromic genetic hearing loss hereditary peripheral neuropathy PRPS1 deficiency disorder 2018-10-10T21:18:33Z https://github.com/monarch-initiative/mondo/issues/7700 GARD:0026031 MONDO:0100061 PRPS1 deficiency disorder Individuals, both male and female, have been reported with familial missense variants in the PRPS1 gene. These patients have been described in the literature as having a range of phenotypes characterized as Arts syndrome, Charcot Marie Tooth syndrome, and non-syndromic hearing loss segregating in an X-linked pattern. Severity and presence of phenotypes makes it difficult to separate the non-syndromic and syndromic forms of hearing loss disorders associated with this gene. PRPS1-related CMTX5/Arts syndrome/XLNSHL 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.