FIG4, FIG4 phosphoinositide 5-phosphatase, 9896

N. diseases: 223; N. variants: 32
Disease: Neuropathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.060 GeneticVariation group BEFREE Charcot-Marie-Tooth type 4J (CMT4J) is a rare autosomal recessive neuropathy caused by mutations in FIG4 that result in loss of FIG4 protein. 29518270 2018
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.060 Biomarker group BEFREE Our data suggest that impaired endolysosomal trafficking in both motor neurons and Schwann cells contributes to CMT4J neuropathy. 25187576 2015
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.060 GeneticVariation group 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: C0442874
Disease: Neuropathy
Neuropathy 		0.060 Biomarker group BEFREE Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies. 22028665 2011
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.060 GeneticVariation group BEFREE Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4. 21705420 2011
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.060 Biomarker group BEFREE CMT4J is a severe form of Charcot-Marie-Tooth neuropathy caused by mutation of the phosphoinositide phosphatase FIG4/SAC3. 21655088 2011