PRPS1 deficiency disorder
MONDO:0100061Mondo
Findings
No curated finding names PRPS1 deficiency disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0100061), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PRPS1HGNC:9462
- Definitive · ClinGen · X-linked · 2020
- Definitive · Illumina · X-linked · 2021
- Definitive · Natera · X-linked recessive · 2023
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: PRPS1 deficiency disorder
- Also called
- PRPS1-related CMTX5/Arts syndrome/XLNSHL