Search for a gene
PRPS1 - phosphoribosyl pyrophosphate synthetase 1
- Synonym(s) : CMTX5, DFNX1, PRS I, ribose-phosphate diphosphokinase 1
- Previous symbols and names : DFN2, deafness, X-linked 2, perceptive, congenital
- Type : gene with protein product
- Chromosomal location : Xq22.3
- OMIM: 311850
- HGNC: 9462
- UniProtKB: P60891
- Genatlas: PRPS1
- Ensembl: ENSG00000147224
- IUPHAR-DB: -
- Reactome: P60891
- LOVD: PRPS1
Diseases list
- Disease-causing germline mutation(s) in X-linked Charcot-Marie-Tooth disease type 5
ORPHA:99014 
- Disease-causing germline mutation(s) in X-linked non-syndromic sensorineural deafness type DFN
ORPHA:90625 - Disease-causing germline mutation(s) (loss of function) in Lethal ataxia with deafness and optic atrophy
ORPHA:1187 - Disease-causing germline mutation(s) (loss of function) in Mild phosphoribosylpyrophosphate synthetase superactivity
ORPHA:411536 - Disease-causing germline mutation(s) (loss of function) in X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
ORPHA:423479 - Disease-causing germline mutation(s) (gain of function) in Severe phosphoribosylpyrophosphate synthetase superactivity
ORPHA:411543
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.