Details of Disease

General Information of Disease (ID: DIS21O0T)

• Disease Name: PRPS1 deficiency disorder
• Synonyms: PRPS1-related CMTX5/Arts syndrome/XLNSHL; PRPS1 deficiency disorder
• 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.|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.
• Disease Hierarchy:
  DISSYRHC: Hereditary peripheral neuropathy
  DIS21O0T: PRPS1 deficiency disorder

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PRPS1	OTN3A6CN	Definitive	X-linked	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.