PRPS1 — phosphoribosyl pyrophosphate synthetase 1 | MEDLIB

gene with protein productOMIM: 3118506 заболеваний

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Disease-causing germline mutation(s) (loss of function) in3

Lethal ataxia with deafness and optic atrophyORPHA:1187

Mild phosphoribosylpyrophosphate synthetase superactivityORPHA:411536

X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiencyORPHA:423479

Герминативная мутация (причина)2

Rare X-linked non-syndromic sensorineural deafness type DFNORPHA:90625

X-linked Charcot-Marie-Tooth disease type 5ORPHA:99014

Disease-causing germline mutation(s) (gain of function) in1

Severe phosphoribosylpyrophosphate synthetase superactivityORPHA:411543

gene with protein productOMIM: 3118506 заболеваний

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Disease-causing germline mutation(s) (loss of function) in3

Lethal ataxia with deafness and optic atrophyORPHA:1187

Mild phosphoribosylpyrophosphate synthetase superactivityORPHA:411536

X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiencyORPHA:423479

Герминативная мутация (причина)2

Rare X-linked non-syndromic sensorineural deafness type DFNORPHA:90625

X-linked Charcot-Marie-Tooth disease type 5ORPHA:99014

Disease-causing germline mutation(s) (gain of function) in1

Severe phosphoribosylpyrophosphate synthetase superactivityORPHA:411543