PMM2, phosphomannomutase 2, 5373

N. diseases: 214; N. variants: 82
Disease: Peripheral Neuropathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.020 GeneticVariation group BEFREE The neurological symptoms of PMM2-CDG are intellectual disability (ID), cerebellar ataxia, and peripheral neuropathy. 31727010 2019
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.020 Biomarker group BEFREE We demonstrate that epalrestat is the first small molecule activator of PMM2 enzyme activity with the potential to treat peripheral neuropathy and correct the underlying enzyme deficiency in a majority of pediatric and adult PMM2-CDG patients. 31636082 2019