PRPS1

Synonym(s): CMTX5, DFNX1, DFN2

Locus: Xq22.3

Protein: Ribose-phosphate pyrophosphokinase 1

Disorder(s):

• Charcot-Marie-Tooth Neuropathy X Type 5
• Charcot-Marie-Tooth Neuropathy X
• PRPS1-Related Disorders
• Arts Syndrome
• Phosphoribosylpyrophosphate Synthetase Superactivity
• PRPS1-Related Charcot-Marie-Tooth Neuropathy X Type 5
• DFNX1 (DFN2) Nonsyndromic Hearing Loss and Deafness
• DFNX1 Nonsyndromic Hearing Loss and Deafness