IGLON5, IgLON family member 5, 402665

N. diseases: 16; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
CUI: C0393639
Disease: Hashimoto's encephalitis
Hashimoto's encephalitis 		0.030 Biomarker disease BEFREE Autoimmune encephalitis with anti-IgLON5 and anti-GABAB-receptor antibodies: A case report. 31096519 2019
CUI: C0393639
Disease: Hashimoto's encephalitis
Hashimoto's encephalitis 		0.030 Biomarker disease BEFREE Antibodies were detected against NMDAR and LGI1 in seven patients, against GAD in 6 patients) one patient had coexisting antibodies against GABA<sub>A</sub> and GABA<sub>B</sub>), against CASPR2, IGLON5, YO, Glycine in 3 patients, against Ma-2 in 2 patients, against CV2 and AMPAR in 1 patient; two patients were diagnosed with hashimoto encephalitis with antibodies against TPO/TG. 30524441 2018
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		0.030 Biomarker group BEFREE Identification of the anti-IgLON5 sleep disorder is important to suspect the disease. 29796717 2018
CUI: C0949664
Disease: Tauopathies
Tauopathies 		0.030 Biomarker group BEFREE We then examine the underlying immunopathophysiology, which may guide treatment decisions in these neuroimmunological disorders, and highlight the exceptional interface between neuronal antibodies and neurodegeneration, such as the tauopathy associated with IgLON5 antibodies. 29053777 2018
CUI: C0393639
Disease: Hashimoto's encephalitis
Hashimoto's encephalitis 		0.030 Biomarker disease BEFREE Clinical manifestations included faciobrachial dystonic seizures (FBDS) in 11 of 35 (31.4%) patients, all with LGI1 antibodies; a combination of gait instability, brainstem dysfunction, and sleep disorder associated with IgLON5 antibodies in 10 (28.6%); acute confusion, memory loss, and behavioral changes suggesting autoimmune encephalitis (AE) in 9 (25.7%; 2 patients with AMPAR, 2 with NMDAR, 2 with GABAbR, 2 with LGI1, and 1 with CASPR2 antibodies); and rapidly progressive cognitive deterioration in 5 (14.3%; 3 patients with IgLON5 antibodies, 1 with chorea; 1 with DPPX antibody-associated cerebellar ataxia and arm rigidity; and 1 with CASPR2 antibodies). 28878050 2017
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		0.030 Biomarker group BEFREE Clinical manifestations included faciobrachial dystonic seizures (FBDS) in 11 of 35 (31.4%) patients, all with LGI1 antibodies; a combination of gait instability, brainstem dysfunction, and sleep disorder associated with IgLON5 antibodies in 10 (28.6%); acute confusion, memory loss, and behavioral changes suggesting autoimmune encephalitis (AE) in 9 (25.7%; 2 patients with AMPAR, 2 with NMDAR, 2 with GABAbR, 2 with LGI1, and 1 with CASPR2 antibodies); and rapidly progressive cognitive deterioration in 5 (14.3%; 3 patients with IgLON5 antibodies, 1 with chorea; 1 with DPPX antibody-associated cerebellar ataxia and arm rigidity; and 1 with CASPR2 antibodies). 28878050 2017
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		0.030 Biomarker group BEFREE Patients with IgLON5 antibodies develop a characteristic sleep disorder preceded or accompanied by bulbar symptoms, gait abnormalities, oculomotor problems, and, less frequently, cognitive decline. 28381508 2017
CUI: C0949664
Disease: Tauopathies
Tauopathies 		0.030 Biomarker group BEFREE Microglial and Neuronal TDP-43 Pathology in Anti-IgLON5-Related Tauopathy. 28550263 2017
CUI: C0949664
Disease: Tauopathies
Tauopathies 		0.030 Biomarker group BEFREE Lastly, there is an interface of immunology, genetics and neurodegeneration, e.g. in Aicardi-Goutières syndrome or the tauopathy with IgLON5-antibodies. 27262149 2016
CUI: C4707562
Disease: Autoimmune encephalopathy with parasomnia and obstructive sleep apnea
Autoimmune encephalopathy with parasomnia and obstructive sleep apnea 		0.020 Biomarker disease BEFREE We here describe the first case of a patient with coexisting anti-IgLON5 as well as anti-γ-aminobutyric acid B (GABAB)-receptor antibodies and predominant clinical features of anti-IgLON5 disease. 31096519 2019
CUI: C0014038
Disease: Encephalitis
Encephalitis 		0.020 Biomarker disease BEFREE We report a case of a patient with IgLON5-associated encephalitis presenting with rapidly progressive cognitive decline and atypical inflammatory lesions on brain magnetic resonance imaging, oligoclonal bands on cerebrospinal fluid, anti-IgLON5 antibodies exclusively of the IgG1 class, and a fierce inflammatory reaction on brain biopsy, who responded favorably to immunotherapy. 29867738 2018
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.020 Biomarker group BEFREE This review aims to give an overview about the current knowledge of this novel neurological disorder associated to IgLON-5 antibodies and its treatment. 29936617 2018
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.020 Biomarker disease BEFREE IgLON5-associated encephalitis is a syndrome with different clinical presentations consisting of sleep dysfunction, bulbar dysfunction, chorea, and progressive supranuclear palsy-like symptoms whereas dysautonomy and cognitive decline usually appear in later stages of the disease. 29867738 2018
CUI: C0014038
Disease: Encephalitis
Encephalitis 		0.020 Biomarker disease BEFREE Among them, two patients suffered from anti-leucine-rich glioma-inactivated 1 (LGI1) encephalitis and one patient suffered from anti-IgLON5 encephalopathy. 28778439 2017
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.020 Biomarker disease BEFREE Among 16 patients with paired serum and CSF samples, 14 had IgLON5 antibodies in both, and 2 only in serum (both had a PSP-like syndrome). 28381508 2017
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.020 Biomarker group BEFREE Antibodies against IgLON5, a neuronal adhesion protein of unknown function, are markers of a novel neurological disorder termed anti-IgLON5 syndrome. 27586161 2016
CUI: C4707562
Disease: Autoimmune encephalopathy with parasomnia and obstructive sleep apnea
Autoimmune encephalopathy with parasomnia and obstructive sleep apnea 		0.020 Biomarker disease BEFREE HEK293 cells expressing several deletion constructs of IgLON5 were used to determine the epitopes recognized by the serum of 15 patients with anti-IgLON5 syndrome. 27586161 2016
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.010 Biomarker group BEFREE Anti-IgLON5 disease is a complex neurological illness which is characterized by progressive sleep and movement disorders and defined by specific autoantibodies to IgLON5. 31096519 2019
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.010 Biomarker phenotype BEFREE IgLON5-associated encephalitis is a syndrome with different clinical presentations consisting of sleep dysfunction, bulbar dysfunction, chorea, and progressive supranuclear palsy-like symptoms whereas dysautonomy and cognitive decline usually appear in later stages of the disease. 29867738 2018
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.010 Biomarker phenotype BEFREE We report a case of a patient with IgLON5-associated encephalitis presenting with rapidly progressive cognitive decline and atypical inflammatory lesions on brain magnetic resonance imaging, oligoclonal bands on cerebrospinal fluid, anti-IgLON5 antibodies exclusively of the IgG1 class, and a fierce inflammatory reaction on brain biopsy, who responded favorably to immunotherapy. 29867738 2018
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.010 Biomarker phenotype BEFREE Clinical manifestations included faciobrachial dystonic seizures (FBDS) in 11 of 35 (31.4%) patients, all with LGI1 antibodies; a combination of gait instability, brainstem dysfunction, and sleep disorder associated with IgLON5 antibodies in 10 (28.6%); acute confusion, memory loss, and behavioral changes suggesting autoimmune encephalitis (AE) in 9 (25.7%; 2 patients with AMPAR, 2 with NMDAR, 2 with GABAbR, 2 with LGI1, and 1 with CASPR2 antibodies); and rapidly progressive cognitive deterioration in 5 (14.3%; 3 patients with IgLON5 antibodies, 1 with chorea; 1 with DPPX antibody-associated cerebellar ataxia and arm rigidity; and 1 with CASPR2 antibodies). 28878050 2017
CUI: C0008489
Disease: Chorea
Chorea 		0.010 Biomarker phenotype BEFREE Clinical manifestations included faciobrachial dystonic seizures (FBDS) in 11 of 35 (31.4%) patients, all with LGI1 antibodies; a combination of gait instability, brainstem dysfunction, and sleep disorder associated with IgLON5 antibodies in 10 (28.6%); acute confusion, memory loss, and behavioral changes suggesting autoimmune encephalitis (AE) in 9 (25.7%; 2 patients with AMPAR, 2 with NMDAR, 2 with GABAbR, 2 with LGI1, and 1 with CASPR2 antibodies); and rapidly progressive cognitive deterioration in 5 (14.3%; 3 patients with IgLON5 antibodies, 1 with chorea; 1 with DPPX antibody-associated cerebellar ataxia and arm rigidity; and 1 with CASPR2 antibodies). 28878050 2017
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.010 Biomarker group BEFREE For the patient with anti-IgLON5 encephalopathy, he only got a moderate and transient improvement. 28778439 2017