PRPS1 - Gene browser

PRPS1

phosphoribosyl pyrophosphate synthetase 1

HCNC Approved Symbol: PRPS1 (HGNC:9462)
Genomic Coordinates: 23:107,628,510 - 107,651,026 (Xq22.3)
Synonyms: CMTX5, DFNX1, PRS-I, PPRibP, DFN2
Disease Associations: This gene is associated with the following 5 diseases in OMIM.

Diagnosed Cases

11Patients

In total, 11 patients were diagnosed with a variant in the PRPS1 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

011
Patient count

Hearing impairment: 4 (36.4%)
Patient Count: 4 (36.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (36.4%)
Muscle weakness: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Hearing loss: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Optic atrophy: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Global developmental delay: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)