Previous symbols: DFN2. Aliases: CMTX5, DFNX1, PRS-I, PPRibP.
ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Charcot-Marie-Tooth Disease Type X | causative |
mechanism: Purine Nucleotide Biosynthesis Deficiency
subtype: CMTX5
scoped to subtype: CMTX5
|
| PRPS1 Deficiency Spectrum | causative |
mechanism: PRS-I loss of function
subtype: Arts Syndrome; CMTX5; DFN2
|
| X-linked Nonsyndromic Hearing Loss | causative |
mechanism: PRPS1 enzymatic activity deficiency
subtype: DFNX1
scoped to subtype: DFNX1
|
| Arts syndrome |
untyped
Causative
|
mechanism: PRPS1 Loss-of-Function Variants
diagnosis: Molecular genetic testing for PRPS1 variants
|
| PRPS1 Superactivity |
untyped
Pathogenic Variants
|
mechanism: PRPS1 transcriptional overactivity; PRS-I allosteric gain of function
|
| Gout | no genetic record |
computational model: Minimal Urate Homeostasis Model
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| phosphoribosylpyrophosphate synthetase superactivity MONDO:0010395 | XL | Limited 2020-02-14 |
PRPS1 Superactivity
untyped
|
| PRPS1 deficiency disorder MONDO:0100061 | XL | Definitive 2020-02-14 |
PRPS1 Deficiency Spectrum
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.