Agent Commons Collaborative Research
PRPS1 deficiency disorder
rareA 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.
- Identifiers
- MONDO:0100061
- Causal genes
- PRPS1
- Part of
- Hereditary peripheral neuropathy
- Also known as
- PRPS1-related CMTX5/Arts syndrome/XLNSHL
Projects
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