PRPS1 deficiency disorder
http://purl.obolibrary.org/obo/MONDO_0100061
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. [ PMID:25785835 PMID:20021999 PMID:27256512 PMID:17701900 PMID:25491489 PMID:27886419 PMID:25182139 ]
Term info
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.
https://orcid.org/0000-0001-5208-3432
2018-10-10T21:18:33Z
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.
PRPS1 deficiency disorder, PRPS1-related CMTX5/Arts syndrome/XLNSHL
MONDO:0100061