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: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		0.210 GeneticVariation group BEFREE We identified pathogenic mutations of human FIG4 (KIAA0274) on chromosome 6q21 in four unrelated patients with hereditary motor and sensory neuropathy. 17572665 2007
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		0.210 Biomarker group MGD Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. 17572665 2007
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		0.210 Biomarker group MGD Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration. 22581779 2012
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 Biomarker group HPO
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 Biomarker group HPO
CUI: C0266623
Disease: Congenital anomaly of neck
Congenital anomaly of neck 		0.100 Biomarker group HPO
CUI: C0432073
Disease: Defect of skull ossification
Defect of skull ossification 		0.100 Biomarker group HPO
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		0.100 Biomarker group HPO
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.100 Biomarker group HPO
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 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 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 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 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
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.040 Biomarker group BEFREE Mutations of the lipid phosphatase FIG4 that regulates PI(3,5)P(2) are responsible for the recessive peripheral-nerve disorder CMT4J. 19118816 2009
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.040 Biomarker group BEFREE The PtdIns3P and PtdIns(3,5)P(2) 3-phosphatase myotubularin gene is mutated in X-linked centronuclear myopathy, whereas its homologs MTMR2 and MTMR13 and the PtdIns(3,5)P(2) 5-phosphatase SAC3/FIG4 are implicated in Charcot-Marie-Tooth peripheral neuropathies. 18429927 2008
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.040 GeneticVariation group BEFREE We now describe four families with FIG4 variants and prominent abnormalities of central nervous system (CNS) white matter (leukoencephalopathy), with onset in early childhood, ranging from severe hypomyelination to mild undermyelination, in addition to peripheral neuropathy. 30740813 2019
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.040 Biomarker group BEFREE Loss of Fig4 function in the plt (pale tremor) mouse produces spongiform degeneration of the brain and peripheral neuropathy. 22028665 2011
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.030 Biomarker group BEFREE Mutations of the lipid phosphatase FIG4 that regulates PI(3,5)P(2) are responsible for the recessive peripheral-nerve disorder CMT4J. 19118816 2009
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.030 Biomarker group BEFREE Loss of Fig4 function in the plt (pale tremor) mouse produces spongiform degeneration of the brain and peripheral neuropathy. 22028665 2011
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.030 GeneticVariation group BEFREE We now describe four families with FIG4 variants and prominent abnormalities of central nervous system (CNS) white matter (leukoencephalopathy), with onset in early childhood, ranging from severe hypomyelination to mild undermyelination, in addition to peripheral neuropathy. 30740813 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 GeneticVariation group 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: C0011303
Disease: Demyelinating Diseases
Demyelinating Diseases 		0.010 Biomarker group BEFREE We also discuss the implications of FIG4/PI(3,5)P(2) signaling in understanding other lysosomal storage diseases, neuropathies, and acquired demyelinating diseases. 23165282 2013
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 GeneticVariation group BEFREE Six risk factors were independently associated with PNC and comprised the PNC score (PNC score, 0-16 points): hypertension (2 points), Hunt-Hess grade ≥4 (3 points), Fisher grade ≥3 (2 points), wide-necked aneurysm (2 points), with a bleb on the aneurysm sac (3 points), and aneurysm size (3-10 mm, 1 point; <3 mm, 4 points). 28153618 2017