Terminology Service for NFDI4Health
PRPS1 deficiency disorder
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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. [ http://www.ncbi.nlm.nih.gov/pubmed/17701900 http://www.ncbi.nlm.nih.gov/pubmed/20021999 http://www.ncbi.nlm.nih.gov/pubmed/25182139 http://www.ncbi.nlm.nih.gov/pubmed/25785835 http://www.ncbi.nlm.nih.gov/pubmed/25491489 http://www.ncbi.nlm.nih.gov/pubmed/27886419 http://www.ncbi.nlm.nih.gov/pubmed/27256512 ]
Term info
Label
PRPS1 deficiency disorder
Synonyms
- PRPS1 deficiency disorder
- PRPS1-related CMTX5/Arts syndrome/XLNSHL
comment
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.
creator
https://orcid.org/0000-0001-5208-3432
date
2018-10-10T21:18:33Z
id
MONDO:0100061