SACS, sacsin molecular chaperone, 26278

N. diseases: 106; N. variants: 252
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 		0.030 GeneticVariation group BEFREE Mutations in the SACS gene have been initially reported in a rare autosomal recessive cerebellar ataxia syndrome featuring prominent cerebellar atrophy, spasticity and peripheral neuropathy as well as retinal abnormalities in some cases (autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS). 30460542 2018
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.030 GeneticVariation group BEFREE A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy. 23800155 2013
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.030 Biomarker group BEFREE Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known as ARSACS, is an early-onset cerebellar ataxia with spasticity, amyotrophy, nystagmus, dysarthria, and peripheral neuropathy. 20852969 2011