FIG4, FIG4 phosphoinositide 5-phosphatase, 9896

N. diseases: 223; N. variants: 32
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 Biomarker disease BEFREE Immunoblotting verified SAC3/FIG4 depletion in CMT4J fibroblasts. 31313076 2019
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 GeneticVariation disease BEFREE The lipid phosphatase gene FIG4 is responsible for Yunis-Varón syndrome and Charcot-Marie-Tooth disease Type 4J, a peripheral neuropathy. 30740813 2019
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 GeneticVariation disease BEFREE Mutations of human FIG4 cause inherited disorders including Charcot-Marie-Tooth disease type 4J, polymicrogyria with epilepsy, and Yunis-Varón syndrome. 29688489 2018
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 GeneticVariation disease BEFREE Our study provides evidence for FIG4 as an ALS risk gene in a central European cohort, adds new variants to the mutational spectrum, links ALS to CMT4J on a genetic level, and describes a distinctive ALS phenotype for FIG4 variant carriers. 28051077 2017
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 GeneticVariation disease BEFREE Mutations of FIG4 result in the inherited disorders Charcot-Marie-Tooth disease type 4J, Yunis-Varón syndrome, and polymicrogyria with seizures. 27292112 2016
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 GeneticVariation disease BEFREE Mutations in Factor-Induced-Gene 4 (FIG4) gene have been identified in Charcot-Marie-Tooth disease type 4J (CMT4J), Yunis-Varon syndrome and epilepsy with polymicrogyria. 26708557 2016
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 CausalMutation disease CLINVAR Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. 24878229 2014
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 Biomarker disease GENOMICS_ENGLAND Mutations of FIG4 lead to the development of Charcot-Marie-Tooth disease type 4J and amyotrophic lateral sclerosis (ALS). 23888880 2014
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 GeneticVariation disease BEFREE This study extends the spectrum of phenotypes associated with FIG4 mutations to include cortical malformation associated with seizures and psychiatric manifestations, in addition to the previously described Charcot-Marie-Tooth disease type 4J and Yunis-Varón syndrome. 24598713 2014
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 GeneticVariation disease BEFREE Interestingly, FIG4 mutations were previously reported to be responsible for other neurodegenerative diseases such as autosomal recessive Charcot-Marie-Tooth disease type 4J and autosomal dominant amyotrophic lateral sclerosis/primary lateral sclerosis. 24088667 2013
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 Biomarker disease BEFREE Humans with a deficiency of FIG4 (known as Charcot-Marie-Tooth disease type 4J or CMT4J) present with clinical and pathophysiological phenotypes indicative of spinal motor neuron degeneration and segmental demyelination. 23165282 2013
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 GeneticVariation disease BEFREE In contrast, in Charcot-Marie-Tooth disease type 4J (also caused by FIG4 mutations), one of the FIG4 alleles is hypomorphic and disease is limited to the peripheral nervous system. 23623387 2013
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 GeneticVariation disease BEFREE CMT4J secondary to FIG4 mutations should be added to the list of inherited neuropathies that need to be considered in suspected cases of inflammatory demyelinating neuropathy, especially if there is a background history of a more slowly progressive neuropathy. 23489662 2013
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 CausalMutation disease CLINVAR Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy. 23489662 2013
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 Biomarker disease GENOMICS_ENGLAND In contrast, in Charcot-Marie-Tooth disease type 4J (also caused by FIG4 mutations), one of the FIG4 alleles is hypomorphic and disease is limited to the peripheral nervous system. 23623387 2013
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 GeneticVariation disease CLINVAR In contrast, in Charcot-Marie-Tooth disease type 4J (also caused by FIG4 mutations), one of the FIG4 alleles is hypomorphic and disease is limited to the peripheral nervous system. 23623387 2013
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 Biomarker disease MGD Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration. 22581779 2012
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 GeneticVariation disease UNIPROT Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J. 21655088 2011
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 CausalMutation disease CLINVAR Charcot-Marie-Tooth disease type 4J (OMIM 611228) is a recessive, potentially severe form of the disease caused by mutations of the lipid phosphatase FIG4. 21705420 2011
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 CausalMutation disease CLINVAR Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J. 21655088 2011
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 GeneticVariation disease CLINVAR Charcot-Marie-Tooth disease type 4J (OMIM 611228) is a recessive, potentially severe form of the disease caused by mutations of the lipid phosphatase FIG4. 21705420 2011
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 GeneticVariation disease UNIPROT Charcot-Marie-Tooth disease type 4J (OMIM 611228) is a recessive, potentially severe form of the disease caused by mutations of the lipid phosphatase FIG4. 21705420 2011
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 GeneticVariation disease BEFREE Charcot-Marie-Tooth disease type 4J (OMIM 611228) is a recessive, potentially severe form of the disease caused by mutations of the lipid phosphatase FIG4. 21705420 2011
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 GeneticVariation disease BEFREE We further demonstrate that mutant Sac3, harboring the pathogenic Ile-to-Thr substitution at position 41 found in patients with CMT4J disorder, is similar to Sac3(WT) with regard to PtdIns(3,5)P(2)-hydrolyzing activity, association with ArPIKfyve, or rapid proteasome-dependent clearance. 20630877 2010
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 CausalMutation disease CLINVAR ArPIKfyve regulates Sac3 protein abundance and turnover: disruption of the mechanism by Sac3I41T mutation causing Charcot-Marie-Tooth 4J disorder. 20630877 2010