FTL, ferritin light chain, 2512

N. diseases: 135; N. variants: 16
Disease: Neuroferritinopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853578
Disease: Neuroferritinopathy
Neuroferritinopathy 		0.800 Biomarker disease BEFREE The presence of Mt-FTL subunits in Mt-FTL/Wt-FTL heteropolymers also caused iron loading-induced aggregation relative to Wt-FTL homopolymers, with the precipitate containing Mt- and Wt-FTL polypeptides again paralleling HF. 21029774 2011
CUI: C1853578
Disease: Neuroferritinopathy
Neuroferritinopathy 		0.800 GeneticVariation disease BEFREE Mutations in the ferritin light chain cause an adult-onset autosomal-dominant choreiform movement disorder termed neuroferritinopathy. 21496576 2011
CUI: C1853578
Disease: Neuroferritinopathy
Neuroferritinopathy 		0.800 GeneticVariation disease BEFREE Neuroferritinopathy is an autosomal dominant progressive movement disorder which occurs due to mutations in the ferritin light chain gene (FTL1). 22278127 2012
CUI: C1853578
Disease: Neuroferritinopathy
Neuroferritinopathy 		0.800 CausalMutation disease CLINVAR Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of the FTL gene. 22881709 2013
CUI: C1853578
Disease: Neuroferritinopathy
Neuroferritinopathy 		0.800 CausalMutation disease CLINVAR Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome. 23421845 2013
CUI: C1853578
Disease: Neuroferritinopathy
Neuroferritinopathy 		0.800 Biomarker disease GENOMICS_ENGLAND Neuroferritinopathy. 24209436 2013
CUI: C1853578
Disease: Neuroferritinopathy
Neuroferritinopathy 		0.800 GeneticVariation disease BEFREE A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation. 24825732 2014
CUI: C1853578
Disease: Neuroferritinopathy
Neuroferritinopathy 		0.800 GeneticVariation disease BEFREE Nucleotide insertions in the last exon of the ferritin light chain cause a neurodegenerative disease known as Neuroferritinopathy, characterized by iron deposition in the brain, particularly in the cerebellum, basal ganglia and motor cortex. 25689865 2015
CUI: C1853578
Disease: Neuroferritinopathy
Neuroferritinopathy 		0.800 GeneticVariation disease BEFREE From the chart review cohort, a C-terminus ferritin light chain (FTL) frameshift mutation was observed consistent with neuroferritinopathy. 27753142 2017
CUI: C1853578
Disease: Neuroferritinopathy
Neuroferritinopathy 		0.800 GeneticVariation disease BEFREE A ferritin light-chain variant related to neuroferritinopathy, in which alanine 96 is replaced with threonine (A96T), was expressed in Escherichia coli, purified, and characterized. 30986045 2019