AQP4, aquaporin 4, 361

N. diseases: 311; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica
0.400 Biomarker disease BEFREE Serum antibodies to MOG (MOG-IgG) have recently been found to be a biomarker of MOG-IgG-associated disorder (MOGAD), a demyelinating disease distinct from both multiple sclerosis and aquaporin-4-IgG neuromyelitis optica spectrum disorder (AQP4-IgG-positive NMOSD). 31743235 2020
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica
0.400 Biomarker disease BEFREE Here, we report a patient who was treated with pembrolizumab (a PD-1 monoclonal antibody) for lung adenocarcinoma with brain metastasis, and who developed anti-aquaporin-4 antibody (AQP4-Ab) positive neuromyelitis optica spectrum disorder (NMOSD). 31655267 2020
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica
0.400 Biomarker disease BEFREE Possible mechanisms that may explain co-existence of NMOSD with TCL include a paraneoplastic syndrome leading to AQP4 antibody production, or a generalized dysfunction of the adaptive immune system. 31706113 2020
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica
0.400 Biomarker disease BEFREE Antibody reactivity against HERV-W env peptides was similar in MOG-IgG associated disorders and MS, but different from AQP4-IgG positive NMOSD. 31715457 2020
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica
0.400 Biomarker disease BEFREE Experimental animal models of aquaporin-4-IgG-seropositive neuromyelitis optica spectrum disorders: progress and shortcomings. 31587392 2020
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica
0.400 Biomarker disease BEFREE Affinity-matured 'aquaporumab' anti-aquaporin-4 antibody for therapy of seropositive neuromyelitis optica spectrum disorders. 31654702 2020
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica
0.400 Biomarker disease BEFREE Determining the frequency of longitudinally-extensive transverse myelitis (LETM: T2-lesion ≥3 vertebral segments) in multiple sclerosis (MS) is essential to assess its utility in differentiating from aquaporin-4-IgG (AQP4-IgG) positive neuromyelitis optica spectrum disorder (NMOSD) and myelin-oligodendrocyte-glycoprotein-IgG (MOG-IgG) myelitis. 31707235 2020
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica
0.400 Biomarker disease BEFREE Quantitative brain lesion distribution may distinguish MOG-ab and AQP4-ab neuromyelitis optica spectrum disorders. 31748853 2020
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica
0.400 Biomarker disease BEFREE Case data were collected from 44 patients with AQP4 antibody-positive NMOSD, 53 patients with multiple sclerosis (MS) and 79 age- and sex-matched healthy controls. 31729806 2020
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica
0.400 AlteredExpression disease BEFREE On histopathological examination, NMOSD samples showed significantly decreased IgG-targeting AQP4 expression on sarcolemma compared with non-NMOSD samples in terms of the area of positive staining and integrated optical density. 31786498 2020
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica
0.400 Biomarker disease BEFREE The advent of reliable testing for anti-aquaporin-4 for NMOSD and anti-MOG antibodies has helped significantly; however, diagnosis can remain challenging, especially in sero-negative cases. 31582425 2020
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica
0.400 Biomarker disease BEFREE Aquaporin-4-IgG positive neuromyelitis optica spectrum disorder and systemic autoimmune diseases overlap syndrome: a single-center experience. 31566079 2019
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica
0.400 Biomarker disease BEFREE Within the CNS autoimmunity control cohort, autoantibodies against aquaporin 4 and high-titer Abs against myelin oligodendrocyte glycoprotein were, as expected, specific for neuromyelitis optica spectrum disorders. 30824481 2019
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica
0.400 Biomarker disease BEFREE Longitudinally extensive transverse myelitis (LETM) accompanying systemic lupus erythematosus (SLE) is often due to coexisting aquaporin-4-IgG seropositive neuromyelitis optica spectrum disorder but has not been associated with myelin oligodendrocyte glycoprotein-IgG (MOG-IgG). 31621483 2019
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica
0.400 Biomarker disease BEFREE We conducted a retrospective study of hospital case records of 294 individuals diagnosed with neuromyelitis optica (NMO) (G36.0 ICD-10, 341.0 ICD-9) in the Swedish National Patient Register from 1987 to end of 2013 or detected by the presence of aquaporin-4 (AQP4) immunoglobulin G (IgG) in serum during the study period. 31171648 2019
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica
0.400 Biomarker disease BEFREE There is a consensus that the anti-aquaporin-4 antibody (AQP4-IgG) is the main pathogen detectable in majority of NMOSD patients, including traditional NMO and AQP4-IgG-positive optic neuritis. 30716473 2019
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica
0.400 Biomarker disease BEFREE Outcome prediction models in AQP4-IgG positive neuromyelitis optica spectrum disorders. 30938427 2019
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica
0.400 Biomarker disease BEFREE There were eleven AQP4-positive NMOSD patients in the study. 31731214 2019
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica
0.400 Biomarker disease BEFREE Clinical trials for neuromyelitis optica treatments using anti-AQP4 IgG are in progress. 30934923 2019
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica
0.400 Biomarker disease BEFREE All the patients showed disseminated lesions in the subcortical region to deep white matter, which were different from those found in MS and AQP4-Ab-positive NMOSD and were consistent with the characteristics of brain lesions in MOG-Ab-positive ADS, including other disease types. 30447856 2019
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica
0.400 GeneticVariation disease BEFREE We conducted an open-label phase 1b safety and proof-of-concept trial in 5 subjects with aquaporin-4 (AQP4)-immunoglobulin G (IgG) seropositive neuromyelitis optica spectrum disorder (NMOSD) who presented with acute transverse myelitis and/or optic neuritis. 31232925 2019
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica
0.400 Biomarker disease BEFREE Serum FAM19A5 was higher in patients with NMOSD-AQP4 and correlated with clinical characteristics. 31680620 2019
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica
0.400 Biomarker disease BEFREE Although negative for aquaporin-4-IgG antibodies, the patient fulfilled criteria for seronegative neuromyelitis optica spectrum disorder with the presence of multiple core clinical characteristics. 30878968 2019
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica
0.400 Biomarker disease BEFREE Six children (10.3%) were diagnosed with acute disseminated encephalomyelitis, while seven young patients (20.6%) were diagnosed with aquaporin-4 antibody seronegative neuromyelitis optica spectrum disorder upon follow-up. 30904690 2019
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica
0.400 GeneticVariation disease BEFREE We retrospectively collected data from 141 patients with NMOSD (104 with AQP4-IgG and 37 with MOG-IgG) and reviewed their clinical features and albumin quotient levels. 31812873 2019