Disease: Peripheral motor neuropathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.100 GeneticVariation disease BEFREE Most mutations in HSPB1 cause axonal Charcot-Marie-Tooth neuropathy and/or distal hereditary motor neuropathy. 30669930 2019
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.100 GeneticVariation disease BEFREE Mutations in small heat shock protein beta-1 (HspB1) have been linked to Charcot-Marie-Tooth (CMT) disease type 2F and distal hereditary motor neuropathy type 2B. 29381233 2018
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.100 GeneticVariation disease BEFREE So far disease causing mutations in HSPB1 have been associated with neurodegenerative diseases such as distal hereditary motor neuropathy, Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis. 28077174 2017
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.100 Biomarker disease BEFREE Mutations in the <i>HSPB1</i> gene encoding the small heat shock protein B1 are associated with an autosomal dominant, axonal form of Charcot-Marie-Tooth disease 2F (CMT2F) and distal hereditary motor neuropathy. 28828227 2017
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.100 GeneticVariation disease BEFREE Point mutants of HspB1 associated with distal hereditary motor neuropathy (G84R, L99M, R140G, K141Q, and P182S) were almost as effective as the wild-type HspB1 in modulation of NFL assembly. 28000086 2017
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.100 GeneticVariation disease BEFREE To date, mutations in the coding regions of HSPB1 (Hsp27) and HSPB8 (Hsp22) were reported to cause distal hereditary motor neuropathy and Charcot-Marie-Tooth disease. 28969372 2017
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.100 GeneticVariation disease BEFREE Mutations in the small heat-shock protein HSP27 gene are associated with distal hereditary motor neuropathy and with the axonal form of Charcot-Marie-Tooth disease type 2. 25547330 2015
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.100 Biomarker disease BEFREE Mutations in the small heat shock protein HSPB1 (HSP27) are a cause of axonal Charcot-Marie-Tooth neuropathy (CMT2F) and distal hereditary motor neuropathy. 23728742 2013
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.100 GeneticVariation disease BEFREE Structure and properties of G84R and L99M mutants of human small heat shock protein HspB1 correlating with motor neuropathy. 23948568 2013
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.100 GeneticVariation disease BEFREE These observations suggest that overexpression of HSPB1(R136W) in neurons is sufficient to cause pathological and electrophysiological changes in mice that are seen in patients with hereditary motor neuropathy. 22521462 2012
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.100 GeneticVariation disease BEFREE Mutations in the gene HSPB1, encoding the small heat shock protein 27 (HSP27), are a cause of distal hereditary motor neuropathy (dHMN) and axonal Charcot-Marie-Tooth disease (CMT2). dHMN and CMT2 are differentiated by the presence of a sensory neuropathy in the latter although in the case of HSPB1 this division is artificial as CMT2 secondary to HSPB1 mutations is predominantly a motor neuropathy with only minimal sensory involvement. 22734906 2012
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.100 Biomarker disease BEFREE A number of missense mutations in the two related small heat shock proteins HspB8 (Hsp22) and HspB1 (Hsp27) have been associated with the inherited motor neuron diseases (MND) distal hereditary motor neuropathy and Charcot-Marie-Tooth disease. 20157854 2010
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.100 Biomarker disease BEFREE We have previously shown that missense mutations in the small heat shock protein HSPB1 (HSP27) cause distal hereditary motor neuropathy and axonal Charcot-Marie-Tooth disease. 20178975 2010
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.100 GeneticVariation disease BEFREE One form of distal hereditary motor neuropathy is associated with mutations in the gene for the small heat shock protein HSPB1 (hsp27). 18344398 2008
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.100 GeneticVariation disease BEFREE Thus, it has been demonstrated that mutation of either Hsp27 or the related protein hsp22 can be observed in specific families with hereditary motor neuropathy caused by premature axonal loss, possibly due to neuronal death and subsequent degeneration. 16048837 2005
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.100 GeneticVariation disease BEFREE Recently, mutations in small heat shock protein 27 (Hsp27) were reported to cause CMT disease type 2F and distal hereditary motor neuropathy. 16087758 2005