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: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		0.010 GeneticVariation disease BEFREE The metabolism of PI(3,5)P2 is regulated by the PIKfyve, VAC14 and FIG4 complex, mutations in which are associated with hypopigmentation in mice. 30709920 2019
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.010 Biomarker group BEFREE The families described here the expanded clinical spectrum of FIG4 deficiency to include leukoencephalopathy. 30740813 2019
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		0.010 GeneticVariation disease BEFREE The metabolism of PI(3,5)P2 is regulated by the PIKfyve, VAC14 and FIG4 complex, mutations in which are associated with hypopigmentation in mice. 30709920 2019
CUI: C3711370
Disease: Spastic Paraplegia Type 7
Spastic Paraplegia Type 7 		0.010 GeneticVariation disease BEFREE Previous studies have demonstrated that mutations in ALSIN, spastic paraplegia 7 (SPG7), TBK1, ALS2, ERLIN2, and FIG4 are responsible for PLS. 31117107 2019
CUI: C0234376
Disease: Action Tremor
Action Tremor 		0.010 Biomarker phenotype BEFREE Constitutive Fig4-/- mice exhibit intention tremor, spongiform degeneration of neural tissue, hypomyelination, and juvenile lethality. 29688489 2018
CUI: C4551520
Disease: Intention tremor
Intention tremor 		0.010 Biomarker phenotype BEFREE Constitutive Fig4-/- mice exhibit intention tremor, spongiform degeneration of neural tissue, hypomyelination, and juvenile lethality. 29688489 2018
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
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 Biomarker disease BEFREE In support of this role of ES to regulate neural crest-derived cell fate and differentiation in vivo, knockdown of FIG4 in neuroblastoma cells resulted in vacuologenesis and cell degeneration, whereas ES treatment after FIG4-small interfering RNA transfection enhanced neural differentiation, survival, and integrity. 27856290 2017
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 Biomarker disease BEFREE In support of this role of ES to regulate neural crest-derived cell fate and differentiation in vivo, knockdown of FIG4 in neuroblastoma cells resulted in vacuologenesis and cell degeneration, whereas ES treatment after FIG4-small interfering RNA transfection enhanced neural differentiation, survival, and integrity. 27856290 2017
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 Biomarker disease BEFREE In support of this role of ES to regulate neural crest-derived cell fate and differentiation in vivo, knockdown of FIG4 in neuroblastoma cells resulted in vacuologenesis and cell degeneration, whereas ES treatment after FIG4-small interfering RNA transfection enhanced neural differentiation, survival, and integrity. 27856290 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 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: C3553831
Disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES 		0.010 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: 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: C0302142
Disease: Deformity
Deformity 		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: C0391958
Disease: Familial Epilepsies
Familial Epilepsies 		0.010 Biomarker disease BEFREE Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. 24598713 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 Biomarker disease BEFREE Database analyses, discussed herein, reinforce the involvement of Sac3 in breast cancer pathogenesis. 24070605 2013
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: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage 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: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 GeneticVariation group 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: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.010 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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 Biomarker disease BEFREE Database analyses, discussed herein, reinforce the involvement of Sac3 in breast cancer pathogenesis. 24070605 2013
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.010 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: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		0.010 Biomarker disease BEFREE Together, our results uncover an unexpected role for Sac3 phosphatase in TNBC cell proliferation. 24070605 2013
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.010 AlteredExpression disease BEFREE This genotype-phenotype correlation demonstrates that absence of FIG4 activity leads to central nervous system dysfunction and extensive skeletal anomalies. 23623387 2013
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy 		0.010 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