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NMO
MCID: NRM001
MIFTS: 60

Neuromyelitis Optica (NMO)

Categories: Eye diseases, Immune diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Neuromyelitis Optica

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MalaCards integrated aliases for Neuromyelitis Optica:

Name: Neuromyelitis Optica 12 20 43 53 36 54 44 15 37 17 70
Devic Syndrome 73 20 43
Devic Disease 20 43 58
Neuromyelitis Optica Spectrum Disorder 20 58
Devic's Syndrome 12 53
Devic's Disease 12 43
Neuromyelitis Optica Spectrum Disorders 20
Opticospinal Multiple Sclerosis 70
Devic's Neuromyelitis Optica 20
Devic Neuromyelitis Optica 43
Nmo Spectrum Disorder 20
Optic-Spinal Ms 43
Opticospinal Ms 43
Nmosd 58
Nmo 20

Characteristics:

Orphanet epidemiological data:

58
neuromyelitis optica spectrum disorder
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: any age;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases Eye diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare neurological diseases
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:8869
KEGG 36 H01491
ICD9CM 34 341.0
MeSH 44 D009471
NCIt 50 C84934
SNOMED-CT 67 25044007
ICD10 32 G36.0
MESH via Orphanet 45 D009471
ICD10 via Orphanet 33 G36.0
UMLS via Orphanet 71 C0027873
Orphanet 58 ORPHA71211
UMLS 70 C0027873 C3711850
Sources

Summaries for Neuromyelitis Optica

About this section
MedlinePlus Genetics : 43 Neuromyelitis optica is an autoimmune disorder that affects the nerves of the eyes and the central nervous system, which includes the brain and spinal cord. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. In neuromyelitis optica, the autoimmune attack causes inflammation of the nerves, and the resulting damage leads to the signs and symptoms of the condition.Neuromyelitis optica is characterized by optic neuritis, which is inflammation of the nerve that carries information from the eye to the brain (optic nerve). Optic neuritis causes eye pain and vision loss, which can occur in one or both eyes.Neuromyelitis optica is also characterized by transverse myelitis, which is inflammation of the spinal cord. The inflammation associated with transverse myelitis damages the spinal cord, causing a lesion that often extends the length of three or more bones of the spine (vertebrae). In addition, myelin, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses, can be damaged. Transverse myelitis causes weakness, numbness, and paralysis of the arms and legs. Other effects of spinal cord damage can include disturbances in sensations, loss of bladder and bowel control, uncontrollable hiccupping, and nausea. In addition, muscle weakness may make breathing difficult and can cause life-threatening respiratory failure in people with neuromyelitis optica.There are two forms of neuromyelitis optica, the relapsing form and the monophasic form. The relapsing form is most common. This form is characterized by recurrent episodes of optic neuritis and transverse myelitis. These episodes can be months or years apart, and there is usually partial recovery between episodes. However, most affected individuals eventually develop permanent muscle weakness and vision impairment that persist even between episodes. For unknown reasons, approximately nine times more women than men have the relapsing form. The monophasic form, which is less common, causes a single episode of neuromyelitis optica that can last several months. People with this form of the condition can also have lasting muscle weakness or paralysis and vision loss. This form affects men and women equally. The onset of either form of neuromyelitis optica can occur anytime from childhood to adulthood, although the condition most frequently begins in a person's forties.Approximately one-quarter of individuals with neuromyelitis optica have signs or symptoms of another autoimmune disorder such as myasthenia gravis, systemic lupus erythematosus, or Sjögren syndrome. Some scientists believe that a condition described in Japanese patients as optic-spinal multiple sclerosis (or opticospinal multiple sclerosis) that affects the nerves of the eyes and central nervous system is the same as neuromyelitis optica.

MalaCards based summary : Neuromyelitis Optica, also known as devic syndrome, is related to optic neuritis and transverse myelitis. An important gene associated with Neuromyelitis Optica is AQP4 (Aquaporin 4), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Mitoxantrone and Antineoplastic Agents, Immunological have been mentioned in the context of this disorder. Affiliated tissues include Umbilical Cord, spinal cord and eye, and related phenotypes are sensory impairment and optic neuritis

Disease Ontology : 12 A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).

GARD : 20 Neuromyelitis optica spectrum disorders (NMOSD) affect the spinal cord and optic nerves (nerves that carry visual messages to and from the brain). Symptoms include pain, weakness, bowel and bladder problems, and temporary vision loss. NMOSD usually occurs in adulthood, but symptoms may start at any age. Some people have a single attack of symptoms lasting months, but in most people the symptoms come and go over time. People with NMOSD may develop permanent muscle weakness and vision loss. The cause of NMOSD is unknown. It occurs when the body's immune system mistakenly attacks healthy cells in the spinal cord and eyes. It can be diagnosed by a clinical exam, MRI looking for specific signs, and blood tests looking for certain antibodies. Treatment is focused on managing the symptoms and preventing relapses.

NINDS : 53 Neuromyelitis optica (NMO) is an autoimmune disease of the central nervous system (CNS) that predominantly affects the optic nerves and spinal cord. It is sometimes also referred to as NMO spectrum disorder. In NMO, the body's immune system mistakenly attacks healthy cells and proteins in the body, most often those in the spinal cord and eyes. Individuals with NMO develop optic neuritis, which causes pain in the eye and vision loss. Individuals also develop transverse myelitis, which causes weakness or paralysis of arms and legs,and numbness, along with loss of bladder and bowel control. Magnetic resonance imaging of the spine often shows an abnormality that extends over long segments of the spinal cord. Individuals may also develop episodes of severe nausea and vomiting, with hiccups from involvement of a part of the brain that controls vomiting. The disease is caused by abnormal autoantibodies that bind to a protein called aquaporin-4. Binding of the aquaporin-4 antibody activates other components of the immune system, causing inflammation and damage to these cells. This also results in the brain and spinal cord the loss of myelin, the fatty substance that acts as insulation around nerve fibers and helps nerve signals move from cell to cell.  NMO is different from multiple sclerosis (MS). Attacks are usually more severe in NMO than in MS, and NMO is treated differently than MS. Most individuals with NMO experience clusters of attacks days to months or years apart, followed by partial recovery during periods of remission. Women are more often affected by NMO than men. African Americans are at greater risk of the disease than are Caucasians. The onset of NMO varies from childhood to adulthood, with two peaks, one in childhood and the other in adults in their 40s.

KEGG : 36 Neuromyelitis optica (NMO), also known as Devic's disease is an inflammatory demyelinating disease that selectively affects optic nerves and spinal cord. The etiology of NMO is unknown but it is believed to be an autoimmune disorder triggered by an environmental factor, possibly an infection, in genetically susceptible individuals. The principal effector in NMO is the self-reactive, complement-activating anti-AQP4 antibody. AQP4 water channel is a component of the dystroglycan protein complex located in astrocytic foot processes at the blood-brain barrier. Anti-AQP4 antibody is sensitive and highly specific serum markers of autoimmune NMO. For many decades, NMO was considered to be a subtype of multiple sclerosis (MS), but prognosis and optimal treatments differ. Corticosteroids and plasma exchange (PLEX) are the most commonly used therapeutic modalities in acute settings. Corticosteroids exert global immunosuppressive and anti-inflammatory effects, whereas PLEX removes antibodies, complement, and cytokines from the blood. Besides, immunosuppressant agents interfering with the function of T and B cells have been shown to prevent disease relapses and reduce neurological disability in NMO.

Wikipedia : 73 Neuromyelitis optica spectrum disorders (NMOSD) is an etiologically heterogeneous syndrome predominantly... more...

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Related Diseases for Neuromyelitis Optica

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Diseases related to Neuromyelitis Optica via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 765)
# Related Disease Score Top Affiliating Genes
1 optic neuritis 32.0 MOG MBP IL6 IL1B HLA-DRB1 GFAP
2 transverse myelitis 31.9 MOG MBP IL6 IL17A CD27 AQP4
3 myelitis 31.9 MOG MBP IL6 IL17A HLA-DPB1 CD27
4 acute transverse myelitis 31.7 IL6 AQP4
5 allergic encephalomyelitis 31.5 MOG MBP
6 acute disseminated encephalomyelitis 31.3 MOG MBP IL1B HLA-DRB1 AQP4
7 neuritis 31.3 MOG MBP IL6 IL4 IL1B HLA-DRB1
8 myasthenia gravis 31.2 TNFSF13B MBP IL4 HLA-DPB1
9 spinal cord injury 31.2 IL6 GFAP AQP4
10 sjogren syndrome 31.1 TNFSF13B CXCL13 CD40LG AQP5
11 systemic autoimmune disease 31.0 IL6 IL17A
12 internuclear ophthalmoplegia 31.0 MOG MBP AQP4
13 chickenpox 30.9 IL6 IL4 IFNA1 CD27
14 encephalitis 30.9 MOG IL6 IL1B GFAP CXCL10 AQP4
15 wernicke encephalopathy 30.8 SLC1A2 GFAP AQP4
16 vasculitis 30.8 TNFSF13B IL6 IL17A CD40LG
17 exanthem 30.8 IL6 IL1B IFNA1
18 chronic inflammatory demyelinating polyradiculoneuropathy 30.8 MBP IL17A HLA-DRB1
19 central nervous system disease 30.8 MOG MBP IL6 IL1B IL17A GFAP
20 acute retrobulbar neuritis 30.7 MBP AQP4
21 guillain-barre syndrome 30.7 MOG MBP IL17A HLA-DRB1
22 sleep disorder 30.7 MOG IL6 IL1B
23 radiculopathy 30.7 IL6 IL17A IFNA1
24 optic nerve disease 30.7 MOG MBP IL6 IL1B IL17A GFAP
25 hydrocephalus 30.7 S100B MBP GFAP AQP4 AQP1
26 meningoencephalitis 30.6 MBP IL6 CXCL10 CD40LG
27 demyelinating disease 30.6 MOG MBP IL6 IL4 IL1B IL17A
28 sarcoidosis 1 30.5 IL1B HLA-DRB1 CXCL10 CD27
29 balo concentric sclerosis 30.5 MOG MBP AQP4
30 pulmonary tuberculosis 30.5 IL6 IL4 HLA-DRB1
31 narcolepsy 30.5 MOG IL6 IL1B HLA-DRB1 HLA-DPB1 GFAP
32 syphilis 30.5 IL6 IL17A HLA-DRB1 CD40LG
33 spinal disease 30.5 IL6 IL1B IL17A GFAP
34 leukoencephalopathy, hereditary diffuse, with spheroids 30.5 SLC1A2 S100B MBP GFAP
35 primary progressive multiple sclerosis 30.4 S100B MOG MBP IL4 HLA-DRB1
36 severe acute respiratory syndrome 30.4 IL6 IL1B IFNA1 CXCL10
37 optic papillitis 30.4 MOG AQP4
38 measles 30.4 IL6 IL1B IFNA1 HLA-DRB1 HLA-DPB1
39 spondyloarthropathy 1 30.4 IL6 IL17A CD40LG
40 spondylitis 30.4 IL6 IL1B IL17A
41 purpura 30.4 TNFSF13B IL6 IL4
42 meningitis 30.4 IL6 IL4 IL1B IL17A AQP4
43 central nervous system lymphoma 30.4 TNFSF13B IL6 CXCL13
44 pemphigus 30.4 TNFSF13B IL6 IL4 HLA-DRB1
45 systemic scleroderma 30.3 IL6 IL4 IL17A CD40LG
46 celiac disease 1 30.3 IL6 IL4 IL1B IL17A HLA-DRB1 HLA-DPB1
47 myositis 30.3 IL6 IL1B IL17A IFNA1 HLA-DRB1
48 nervous system disease 30.3 MOG MBP IL6 IL4 IL1B IL17A
49 opsoclonus-myoclonus syndrome 30.3 TNFSF13B CXCL10
50 bacterial meningitis 30.3 S100B IL6 IL1B IL17A AQP4

Graphical network of the top 20 diseases related to Neuromyelitis Optica:



Diseases related to Neuromyelitis Optica
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Symptoms & Phenotypes for Neuromyelitis Optica

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Human phenotypes related to Neuromyelitis Optica:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensory impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0003474
2 optic neuritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100653
3 visual loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0000572
4 paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0010550
5 neuronal loss in central nervous system 58 31 hallmark (90%) Very frequent (99-80%) HP:0002529
6 functional abnormality of the bladder 58 31 hallmark (90%) Very frequent (99-80%) HP:0000009
7 autoimmune antibody positivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0030057
8 ocular pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0200026
9 peripheral demyelination 58 31 hallmark (90%) Very frequent (99-80%) HP:0011096
10 myelitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0012486
11 abnormality of brain morphology 58 31 frequent (33%) Frequent (79-30%) HP:0012443
12 recurrent singultus 58 31 occasional (7.5%) Occasional (29-5%) HP:0100247
13 respiratory failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002878
14 nausea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002018
15 csf pleocytosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012229

MGI Mouse Phenotypes related to Neuromyelitis Optica:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.77 AQP1 AQP4 CD27 CD40LG CXCL10 CXCL13
2 immune system MP:0005387 9.47 AQP1 AQP4 CD27 CD40LG CXCL10 CXCL13
Sources

Drugs & Therapeutics for Neuromyelitis Optica

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Drugs for Neuromyelitis Optica (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 68)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mitoxantrone Approved, Investigational Phase 4 65271-80-9 4212
2 Antineoplastic Agents, Immunological Phase 4
3 Analgesics Phase 4
4
Ravulizumab Approved, Investigational Phase 3 1803171-55-2
5
Azathioprine Approved Phase 3 446-86-6 2265
6
Mycophenolic acid Approved Phase 3 24280-93-1 446541
7 Antimetabolites Phase 3
8 Complement System Proteins Phase 3
9 Immunologic Factors Phase 3
10 Hormone Antagonists Phase 3
11 Hormones Phase 3
12 glucocorticoids Phase 3
13 Anti-Inflammatory Agents Phase 3
14 Vaccines Phase 3
15
Chlorpheniramine Approved Phase 2 132-22-9, 113-92-8 2725
16
Metoclopramide Approved, Investigational Phase 2 364-62-5 4168
17
Hydrocortisone acetate Approved, Vet_approved Phase 2 50-03-3
18
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 5754
19
Bortezomib Approved, Investigational Phase 2 179324-69-7 93860 387447
20
Cetirizine Approved Phase 1, Phase 2 83881-51-0 2678
21
Histamine Approved, Investigational Phase 1, Phase 2 51-45-6, 75614-87-8 774
22
4-Aminopyridine Approved Phase 2 504-24-5 1727
23
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
24
Cytarabine Approved, Investigational Phase 2 147-94-4 6253
25
Carmustine Approved, Investigational Phase 2 154-93-8 2578
26
Etoposide Approved Phase 2 33419-42-0 36462
27
Melphalan Approved Phase 2 148-82-3 4053 460612
28
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
29
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
30
Dexamethasone Approved, Investigational, Vet_approved Phase 1, Phase 2 50-02-2 5743
31
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 1, Phase 2 1177-87-3
32
Phenylalanine Approved, Investigational, Nutraceutical Phase 2 63-91-2 6140
33
Cortisone Experimental Phase 2 53-06-5 222786
34 Hydrocortisone hemisuccinate Phase 2
35 Hydrocortisone 17-butyrate 21-propionate Phase 2
36 Proteasome Inhibitors Phase 2
37 Neurotransmitter Agents Phase 1, Phase 2
38 Histamine Antagonists Phase 1, Phase 2
39 Histamine H1 Antagonists, Non-Sedating Phase 1, Phase 2
40
Histamine Phosphate Phase 1, Phase 2 51-74-1 65513
41 Histamine H1 Antagonists Phase 1, Phase 2
42 Anti-Allergic Agents Phase 1, Phase 2
43 Potassium Channel Blockers Phase 2
44 Antineoplastic Agents, Hormonal Phase 2
45 Anti-Infective Agents Phase 2
46 Dermatologic Agents Phase 2
47 Tubulin Modulators Phase 2
48 Etoposide phosphate Phase 2
49 Keratolytic Agents Phase 2
50 Antiviral Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 67)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Mitoxantrone in Patients With Refractory Neuromyelitis Optica and Spectrum Disorders Unknown status NCT02021825 Phase 4 Mitoxantrone
2 Mycophenolate Mofetil Treatment With Neuromyelitis Optica Spectrum Disorders in Chinese Patients Unknown status NCT02809079 Phase 4 Mycophenolate mofetil;Prednisone
3 Rituximab at Low dosE for neuromyelitiS optiCa spectrUm disordEr (RESCUE): a Prospective, Multicenter, Open-label, Follow-up Clinical Trial Completed NCT04256252 Phase 4 Rituximab
4 A Pilot Study of Mitoxantrone for the Treatment of Recurrent Neuromyelitis Optica (Devic's Disease) Completed NCT00304291 Phase 4 Mitoxantrone
5 Phase III Randomized, Double-Blind, Sham-Controlled Study of Plasma Exchange for Acute Severe Attacks of Inflammatory Demyelinating Disease Refractory to Intravenous Methylprednisolone Unknown status NCT00004645 Phase 3
6 Comparison of Annual Relapse Rate, Expanded Disability Status Scale, and Side Effects Between Azathioprine and Rituximab in Patients With Neuromyelitis Optica Spectrum Disorders Completed NCT03002038 Phase 2, Phase 3 Azathioprine;Rituximab
7 A Double-masked, Placebo-controlled Study With Open-label Period to Evaluate the Efficacy and Safety of MEDI-551 in Adult Subjects With Neuromyelitis Optica and Neuromyelitis Optica Spectrum Disorders Completed NCT02200770 Phase 2, Phase 3 Inebilizumab
8 Safety and Efficacy of Tocilizumab Versus Azathioprine in Neuromyelitis Optica Spectrum Disorders: a Randomized, Controlled, Open-label, Phase 2 Trial Completed NCT03350633 Phase 2, Phase 3 Tocilizumab Injection;Azathioprine
9 A Multicenter, Single Arm, Open-Label Study to Evaluate the Long-Term Safety and Efficacy of Satralizumab in Patients With Neuromyelitis Optica Spectrum Disorder (NMOSD) Recruiting NCT04660539 Phase 3 satralizumab;azathioprine (AZA);mycophenolate mofetil (MMF);oral corticosteroids
10 A Phase 3, External Placebo-Controlled, Open-Label, Multicenter Study to Evaluate the Efficacy and Safety of Ravulizumab in Adult Patients With Neuromyelitis Optica Spectrum Disorder (NMOSD) Recruiting NCT04201262 Phase 3
11 A Phase III Study of RC18, a Recombinant Human B Lymphocyte Stimulator Receptor:Immunoglobulin G( IgG ) Fc Fusion Protein for Injection for the Treatment of Subjects With Neuromyelitis Optica Spectrum Disorders. Recruiting NCT03330418 Phase 3
12 A Phase 2/3 Open-Label, Single-Arm Trial to Evaluate the Safety and Activity of Eculizumab in Pediatric Patients With Relapsing Neuromyelitis Optica Spectrum Disorder Recruiting NCT04155424 Phase 2, Phase 3 Eculizumab
13 A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Phase 3 Study to Evaluate the Efficacy and Safety of Satralizumab (SA237) as Monotherapy in Patients With Neuromyelitis Optica (NMO) and Neuromyelitis Optica Spectrum Disorder (NMOSD) Active, not recruiting NCT02073279 Phase 3 Satralizumab;Placebo
14 A Multicenter, Randomized, Addition to Baseline Treatment, Double-Blind, Placebo-Controlled, Phase 3 Study to Evaluate the Efficacy and Safety of Satralizumab (SA237) in Patients With Neuromyelitis Optica (NMO) and NMO Spectrum Disorder (NMOSD) Active, not recruiting NCT02028884 Phase 3 Satralizumab;Placebo;Baseline Treatment
15 A Phase III, Open-label, Extension Trial of ECU-NMO-301 to Evaluate the Safety and Efficacy of Eculizumab in Patients With Relapsing Neuromyelitis Optica (NMO) Active, not recruiting NCT02003144 Phase 3
16 A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Trial to Evaluate the Safety and Efficacy of Eculizumab in Patients With Relapsing Neuromyelitis Optica (NMO) Terminated NCT01892345 Phase 3 Eculizumab;Placebo
17 A Multicentre randomiSed Controlled TRial of IntraVEnous Immunoglobulin (IVIg) Versus Standard Therapy for the Treatment of Transverse Myelitis in Adults and Children Terminated NCT02398994 Phase 3 Intravenous Methylprednisolone;Intravenous Immunoglobulin
18 Autologous Hematopoietic Stem Cell Transplant for Neuromyelitis Optica Spectrum Disorder (NMOSD) Withdrawn NCT03829566 Phase 2, Phase 3 Rituximab;Cyclophosphamide;Mesna;rATG;Methylprednisolone;G-CSF
19 Phase I/II Study of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Progressive Multiple Sclerosis and Neuromyelitis Optica Unknown status NCT01364246 Phase 1, Phase 2
20 Autologous Mesenchymal Stem Cells for the Treatment of Progressive and Refractory Neuromyelitis Optica Spectrum Disorders: an Open-label Phase 2a Proof-of-concept Study Completed NCT02249676 Phase 2
21 Single-center, Open Label Trial of Bortezomib as add-on Treatment in Relapsing Neuromyelitis Optica Spectrum Disorder Completed NCT02893111 Phase 2 Bortezomib
22 Single-center, Open Label Trial of ACTEMRA® (Tocilizumab) as Monotherapy in Highly Active Neuromyelitis Optica Spectrum Disorders (NMOSD) Completed NCT03062579 Phase 1, Phase 2 Tocilizumab
23 NPB-01(Intravenous Immunoglobulin) Therapy for Patients With Anti-aquaporin 4 Antibody Positive Neuromyelitis Optica Spectrum Disorder Not Provided Adequate Effect of Therapy to Steroids Plus Therapy. Completed NCT01845584 Phase 2 NPB-01
24 Trial of High Dose Immunosuppressive Therapy With Hematopoietic Stem Cell Support in Devic's Disease Completed NCT00787722 Phase 1, Phase 2 Cyclophosphamide;G-CSF;rATG;Mesna;Rituximab;Methylprednisolone
25 An Open Label, add-on Trial of Cetirizine for Patients With Neuromyelitis Optica Completed NCT02865018 Phase 1, Phase 2 cetirizine
26 An Open Label Study of the Effects of Eculizumab in Neuromyelitis Optica Completed NCT00904826 Phase 1, Phase 2 Eculizumab
27 Double-Blind, Placebo-Controlled Crossover Trial on the Safety and Efficacy of Sustained-Release Dalfampridine in Transverse Myelitis (Re-Launch) Completed NCT02166346 Phase 2 Dalfampridine;Placebo
28 High Frequency Impulse Therapy for Neuropathic Pain in NMOSD Recruiting NCT04614454 Phase 2
29 High-Dose Immunosuppressive Therapy Using Carmustine, Etoposide, Cytarabine, and Melphalan (BEAM) + Thymoglobulin Followed by Syngeneic or Autologous Hematopoietic Cell Transplantation for Patients With Autoimmune Neurologic Diseases Recruiting NCT00716066 Phase 2 Carmustine;Cytarabine;Etoposide;Melphalan;Prednisone
30 An Open Label Phase II Clinical Trial Evaluating the Efficacy and Safety of SHR1459 in Adult Patients With Neuromyelitis Optical Spectrum Disorders (NMOSDs) Not yet recruiting NCT04670770 Phase 2 Drug - SHR1459
31 Comparison of the Efficacy and Safety of Immunoadsorption and Plasma Exchange for Acute Attack of Refractory Neuromyelitis Optica Spectrum Disorders: a Prospective, Multicenter, Single-blind, Randomized Controlled Clinical Trial Not yet recruiting NCT04064944 Phase 2
32 Autologous Hematopoietic Stem Cell Transplant in Patients With Neuromyelitis Optica Terminated NCT01339455 Phase 1, Phase 2
33 An Open-label Phase 1b Study of Avastin® (Bevacizumab) for the Treatment of Acute Optic Neuritis and/or Transverse Myelitis in Neuromyelitis Optica (NMO) and Neuromyelitis Optica Spectrum Disorder (NMOSD). Completed NCT01777412 Phase 1 Bevacizumab
34 Phase I, Single-Center, Open Label Trial of Ublituximab + Glucocorticoids for the Treatment of Acute Optic Neuritis and/or Transverse Myelitis in Neuromyelitis Optica (NMO) and Neuromyelitis Optica Spectrum Disorder (NMOSD) Completed NCT02276963 Phase 1 Ublituximab
35 A Double-Blind, Placebo-Controlled, Crossover Study to Evaluate the Safety and Efficacy of ABX-1431 in Patients With Central Pain Completed NCT03138421 Phase 1 ABX-1431 HCl;Placebo
36 Phase 1b Study of C1-esterase Inhibitor (Cinryze) With Standard of Care for Acute Treatment of Neuromyelitis Optica Exacerbations Completed NCT01759602 Phase 1 C1-esterase inhibitor (Cinryze)
37 Open Label Study of Safety and Tolerability of Rituximab in Neuromyelitis Optica, Recurrent Transverse Myelitis and Recurrent Bilateral Simultaneous Optic Neuritis Completed NCT00501748 Phase 1 Rituximab
38 Treatment of Multiple Sclerosis and Neuromyelitis Optica With Regulatory Dendritic Cell: Clinical Trial Phase 1 B Completed NCT02283671 Phase 1
39 Safety, Tolerability, Pharmacodynamics and Efficacy of HBM9161 Weekly Subcutaneous Administration in Patients With Neuromyelitis Optica Spectrum Disorders (NMOSD) in China Recruiting NCT04227470 Phase 1 HBM9161 Injection
40 A Phase I Clinical Trial of BAT4406F Injection on the Safety, Tolerability, and Pharmacokinetics in Patients With Neuromyelitis Optica Spectrum Disorders Not yet recruiting NCT04146285 Phase 1 BAT4406F
41 A Single Center Open Label Pilot Study of Alpha1-Antitrypsin: A Novel Treatment to Mitigate Neuromyelitis Optica Attacks Withdrawn NCT02087813 Phase 1 Alpha1-antitrypsin;methylprednisolone
42 Clinical Study of CD19/CD20 tanCAR T Cells in Relapsed and/or Refractory AQP4-IgG Seropositive Neuromyelitis Optica Spectrum Disorders (NMOSD) Withdrawn NCT03605238 Phase 1
43 Clinic Registry Study of Optic Neuromyelitis Spectrum Disease in China Unknown status NCT03514030
44 Evaluation of Macular and Retinal Nerve Fiber Layer Thickness Measurements for Detection of Neural Loss in Multiple Sclerosis and Neuromyelitis Optica Using High Resolution Optical Coherence Tomography. Unknown status NCT01024985
45 The French Multiple Sclerosis Registry Unknown status NCT02889965
46 Clinical Patterns of Neuromyelitis Optica Spectrum Disorders in Assiut University Hospital Completed NCT03819413
47 An Diagnostic Cohort on Applicability and Accuracy of AQP4-Immunoglobulin G Detection Kit in the Diagnosis of Neuromyelitis Optica Spectrum Disorders Completed NCT04388072
48 Phase II, Randomized, Single Blind Sham Controlled Trial Investigating Scrambler Therapy for Neuropathic Pain Caused by Neuromyelitis Optica Spectrum Disorder Completed NCT03452176
49 Immunologic Biomarker Profile of Cerebrospinal Fluid Completed NCT04202055
50 Optic Neuritis Differential Diagnosis Study (ONDDS) Recruiting NCT03370965

Search NIH Clinical Center for Neuromyelitis Optica

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Neuromyelitis Optica cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Neuromyelitis Optica:
Allogeneic hematopoietic stem cells for the treatment of neuromyelitis optica
Hematopoetic stem cells for treatment of neuromyelitis optica
NU211-01/NU215-02, umbilical cord mesenchymal stem cells for multiple sclerosis and neuromyelitis optica
Embryonic/Adult Cultured Cells Related to Neuromyelitis Optica:
Peripheral blood-derived hematopoietic stem cells
Peripheral blood-derived hematopoietic stem cells (family)
Umbilical cord-derived mesenchymal stem cells PMIDs: 20682053

Cochrane evidence based reviews: neuromyelitis optica

Sources

Genetic Tests for Neuromyelitis Optica

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Sources

Anatomical Context for Neuromyelitis Optica

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MalaCards organs/tissues related to Neuromyelitis Optica:

40
Spinal Cord, Eye, B Cells, T Cells, Brain, Neutrophil, Retina
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Neuromyelitis Optica:
# Tissue Anatomical CompartmentCell Relevance
1 Umbilical Cord Wharton's Jelly Mesenchymal Stem Cells Potential therapeutic candidate
Sources

Publications for Neuromyelitis Optica

About this section

Articles related to Neuromyelitis Optica:

(show top 50) (show all 4240)
# Title Authors PMID Year
1
Marked hypotonia in an infant of a mother with Devic disease. 61 54
20028941 2010
2
Immunoglobulin M antibodies to aquaporin-4 in neuromyelitis optica and related disorders. 61 54
20184532 2010
3
Patterns of antibody binding to aquaporin-4 isoforms in neuromyelitis optica. 54 61
20463974 2010
4
Standardized method for the detection of antibodies to aquaporin-4 based on a highly sensitive immunofluorescence assay employing recombinant target antigen. 61 54
20117794 2010
5
Differential expression of aquaporin-4 isoforms localizes with neuromyelitis optica disease activity. 54 61
20227773 2010
6
Reappraisal of brain MRI features in patients with multiple sclerosis and neuromyelitis optica according to anti-aquaporin-4 antibody status. 61 54
20122699 2010
7
Evidences for a leaky scanning mechanism for the synthesis of the shorter M23 protein isoform of aquaporin-4: implication in orthogonal array formation and neuromyelitis optica antibody interaction. 61 54
20007705 2010
8
Intra-cerebral injection of neuromyelitis optica immunoglobulin G and human complement produces neuromyelitis optica lesions in mice. 54 61
20047900 2010
9
[Construction and clinical application of lentivirus-AQP4 expressing vector]. 61 54
20356560 2010
10
Syringomyelia in neuromyelitis optica seropositive for aquaporin-4 antibody. 61 54
20154446 2010
11
Enhanced IL-6 production in aquaporin-4 antibody positive neuromyelitis optica patients. 61 54
20128675 2010
12
Anti-aquaporin-4 auto-antibodies orchestrate the pathogenesis in neuromyelitis optica. 54 61
19389490 2009
13
Western blot analysis for the detection of serum antibodies recognizing linear Aquaporin-4 epitopes in patients with Neuromyelitis Optica. 61 54
19850359 2009
14
Live cell analysis of aquaporin-4 m1/m23 interactions and regulated orthogonal array assembly in glial cells. 54 61
19843522 2009
15
Association of anti-Helicobacter pylori neutrophil-activating protein antibody response with anti-aquaporin-4 autoimmunity in Japanese patients with multiple sclerosis and neuromyelitis optica. 54 61
19965522 2009
16
[Regulation, structure and function of brain aquaporin]. 61 54
20030210 2009
17
[Experimental models of neuromyelitis optica]. 54 61
20030243 2009
18
Pathologic and immunologic profiles of a limited form of neuromyelitis optica with myelitis. 61 54
19917985 2009
19
Intrathecal pathogenic anti-aquaporin-4 antibodies in early neuromyelitis optica. 54 61
19938104 2009
20
Aquaporin-4 orthogonal arrays of particles are the target for neuromyelitis optica autoantibodies. 61 54
19229993 2009
21
Cytotoxic effect of neuromyelitis optica antibody (NMO-IgG) to astrocytes: an in vitro study. 54 61
19695715 2009
22
Antiacquaporin 4 antibodies detection by different techniques in neuromyelitis optica patients. 61 54
19667009 2009
23
"Cloud-like enhancement" is a magnetic resonance imaging abnormality specific to neuromyelitis optica. 54 61
19798642 2009
24
Extensive vasogenic edema of anti-aquaporin-4 antibody-related brain lesions. 61 54
19625334 2009
25
Symptomatic, radiological and pathological involvement of the hypothalamus in neuromyelitis optica. 61 54
19448094 2009
26
Aquaporins: translating bench research to human disease. 61 54
19448080 2009
27
Marked increase in cerebrospinal fluid glial fibrillar acidic protein in neuromyelitis optica: an astrocytic damage marker. 54 61
19372295 2009
28
Neuromyelitis optica with HTLV-1 infection: different from acute progressive HAM? 54 61
19571450 2009
29
Antibody to aquaporin-4 in the long-term course of neuromyelitis optica. 54 61
18945724 2008
30
Disseminated encephalomyelitis in adults. 61 54
18703274 2008
31
Autoantibodies in inflammatory demyelinating diseases of the central nervous system. 61 54
18951202 2008
32
Neuromyelitis optica in patients with gluten sensitivity associated with antibodies to aquaporin-4. 54 61
18708571 2008
33
CNS aquaporin-4 autoimmunity in children. 61 54
18509092 2008
34
Aquaporin-4 antibodies in neuromyelitis optica and longitudinally extensive transverse myelitis. 54 61
18625857 2008
35
Neuromyelitis optica and anti-aquaporin-4 antibodies measured by an enzyme-linked immunosorbent assay. 61 54
18462810 2008
36
A prominent elevation of glial fibrillary acidic protein in the cerebrospinal fluid during relapse in neuromyelitis optica. 54 61
18509235 2008
37
Neuromyelitis optica (NMO) antibody positivity in patients with transverse myelitis and no visual manifestations. 54 61
18432545 2008
38
Neuromyelitis optica pathogenesis and aquaporin 4. 61 54
18510734 2008
39
Mechanisms of disease: aquaporin-4 antibodies in neuromyelitis optica. 61 54
18334978 2008
40
Water movements in the brain: role of aquaporins. 61 54
18054802 2008
41
The spectrum of neuromyelitis optica. 61 54
17706564 2007
42
Anti-aquaporin 4 antibody in Japanese multiple sclerosis: the presence of optic spinal multiple sclerosis without long spinal cord lesions and anti-aquaporin 4 antibody. 54 61
17702782 2007
43
Neuromyelitis optica. 54 61
17495617 2007
44
Anti-aquaporin-4 antibody is involved in the pathogenesis of NMO: a study on antibody titre. 61 54
17449477 2007
45
Pattern-specific loss of aquaporin-4 immunoreactivity distinguishes neuromyelitis optica from multiple sclerosis. 61 54
17282996 2007
46
Loss of aquaporin 4 in lesions of neuromyelitis optica: distinction from multiple sclerosis. 54 61
17405762 2007
47
Antibody to aquaporin 4 in the diagnosis of neuromyelitis optica. 61 54
17439296 2007
48
Absence of aquaporin-4 expression in lesions of neuromyelitis optica but increased expression in multiple sclerosis lesions and normal-appearing white matter. 61 54
17143632 2007
49
Loss of aquaporin-4 in active perivascular lesions in neuromyelitis optica: a case report. 61 54
16778375 2006
50
Detection of brain-specific autoantibodies to myelin oligodendrocyte glycoprotein, S100beta and myelin basic protein in patients with Devic's neuromyelitis optica. 61 54
11427318 2001
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Variations for Neuromyelitis Optica

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Expression for Neuromyelitis Optica

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Search GEO for disease gene expression data for Neuromyelitis Optica.
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Pathways for Neuromyelitis Optica

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Pathways related to Neuromyelitis Optica according to GeneCards Suite gene sharing:

(show all 37)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 13.99 TNFSF13B S100B IL6 IL4 IL1B IL17A
2
ERK Signaling 63
Show member pathways
 13.78 TNFSF13B IL6 IL4 IL1B IL17A CXCL13
3
PEDF Induced Signaling 63
Show member pathways
 13.63 TNFSF13B IL6 IL4 IL1B IL17A IFNA1
4
Akt Signaling 63
Show member pathways
 13.37 TNFSF13B IL6 IL4 IL1B IL17A CXCL13
5
PAK Pathway 63
Show member pathways
 13.23 TNFSF13B IL6 IL4 IL1B IL17A CXCL13
6
Cytokine Signaling in Immune system 65
Show member pathways
 13.17 TNFSF13B IL6 IL4 IL1B IL17A IFNA1
7
Measles 36
Show member pathways
 12.79 IL6 IL1B IFNA1 HLA-DRB1 HLA-DPB1 CXCL10
8
Herpes simplex virus 1 infection 36
12.75 IL6 IL1B IFNA1 HLA-DRB1 HLA-DPB1
9
T cell receptor signaling pathway 36
Show member pathways
 12.57 IL6 IL4 IL1B IL17A CD40LG
10
Th17 cell differentiation 36
Show member pathways
 12.55 IL6 IL4 IL1B IL17A HLA-DRB1 HLA-DPB1
11
Cytosolic sensors of pathogen-associated DNA 65
Show member pathways
 12.51 S100B IL6 IL1B IFNA1 CXCL10
12
NF-kappaB Signaling 4
12.46 TNFSF13B IL4 IL1B IL17A IFNA1 CXCL10
13
Allograft rejection 1 36
Show member pathways
 12.4 TNFSF13B IL6 IL4 IL1B IL17A IFNA1
14
JAK-STAT signaling pathway 36
Show member pathways
 12.37 IL6 IL4 IFNA1 GFAP
15
IL-17 Family Signaling Pathways 64
Show member pathways
 12.31 IL6 IL4 IL1B IL17A CXCL10
16
Immune response IFN alpha/beta signaling pathway 23
Show member pathways
 12.23 IL6 IL4 IL1B IL17A IFNA1
17
Toxoplasmosis 36
Show member pathways
 12.23 IL4 IL1B HLA-DRB1 HLA-DPB1 CD40LG
18
Tuberculosis 36
12.2 IL6 IL1B IFNA1 HLA-DRB1 HLA-DPB1
19
Bacterial infections in CF airways 23
Show member pathways
 12.15 IL6 IL4 IL1B CXCL10
20
Interleukin-4 and 13 signaling 65
11.96 IL6 IL4 IL1B IL17A
21
Hematopoietic cell lineage 36
11.87 IL6 IL4 IL1B HLA-DRB1 HLA-DPB1
22
Th17 Differentiation Pathway 64
Show member pathways
 11.84 IL6 IL4 IL1B IL17A
23
TNF Superfamily Pathway: Human Ligand-Receptor Interactions and their Associated Functions 64
Show member pathways
 11.76 TNFSF13B CD40LG CD27
24
Innate Lymphoid Cell Differentiation Pathways 64
11.74 IL4 IL1B IL17A
25
Neural Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.74 S100B MOG GFAP
26
Th1 Differentiation Pathway 64
Show member pathways
 11.71 IL6 IL1B IL17A
27
Photodynamic therapy-induced NF-kB survival signaling 1
Show member pathways
 11.62 IL6 IL1B CD40LG
28
Lung fibrosis 1
11.62 IL6 IL4 IL1B
29
Rheumatoid arthritis 36
11.6 TNFSF13B IL6 IL1B IL17A HLA-DRB1 HLA-DPB1
30
IgA-Producing B Cells in the Intestine 64
11.59 TNFSF13B IL6 IL4 CXCL13 CD40LG
31
Malaria 36
11.51 IL6 IL1B CD40LG
32
Interleukin-10 signaling 65
11.49 IL6 IL4 IL1B CXCL10
33
Spinal Cord Injury 1
11.36 TNFSF13B MBP IL6 IL4 IL1B GFAP
34
Development and heterogeneity of the ILC family 1
11.26 IL6 IL4 IL1B IL17A
35
Cytokines and Inflammatory Response 1
11.2 IL6 IL4 IL1B HLA-DRB1
36
G-protein signaling_Rap2B regulation pathway 23
10.81 TNFSF13B IL6 IL4 IL1B IL17A GFAP
37
IL-9 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types 64
10.78 IL6 IL4 IL1B
Sources

GO Terms for Neuromyelitis Optica

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Cellular components related to Neuromyelitis Optica according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.93 TNFSF13B S100B IL6 IL4 IL1B IL17A
2 cell surface GO:0009986 9.8 SLC1A2 MBP HLA-DRB1 HLA-DPB1 CD40LG CD27
3 extracellular space GO:0005615 9.7 TNFSF13B S100B IL6 IL4 IL1B IL17A
4 astrocyte end-foot GO:0097450 9.26 GFAP AQP4
5 external side of plasma membrane GO:0009897 9.17 MOG IL17A HLA-DRB1 CXCL10 CD40LG CD27

Biological processes related to Neuromyelitis Optica according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.18 TNFSF13B IL6 IL4 IL1B IFNA1 HLA-DRB1
2 cell-cell signaling GO:0007267 9.87 IL1B IL17A CXCL13 CXCL10
3 inflammatory response GO:0006954 9.85 IL6 IL1B IL17A CXCL13 CXCL10 CD40LG
4 cellular response to lipopolysaccharide GO:0071222 9.81 IL6 IL1B CXCL13 CXCL10
5 defense response to Gram-negative bacterium GO:0050829 9.77 IL6 IL17A AQP1
6 B cell differentiation GO:0030183 9.75 IL4 IFNA1 CD40LG
7 positive regulation of interleukin-6 production GO:0032755 9.71 MBP IL6 IL1B IL17A
8 cytokine-mediated signaling pathway GO:0019221 9.63 IL6 IL4 IL1B IL17A IFNA1 CXCL10
9 positive regulation of interleukin-10 production GO:0032733 9.61 IL6 IL4 CD40LG
10 positive regulation of neuroinflammatory response GO:0150078 9.6 IL6 IL1B
11 multicellular organismal water homeostasis GO:0050891 9.58 AQP4 AQP1
12 pancreatic juice secretion GO:0030157 9.56 AQP5 AQP1
13 vascular endothelial growth factor production GO:0010573 9.55 IL6 IL1B
14 cellular water homeostasis GO:0009992 9.54 AQP4 AQP1
15 positive regulation of glial cell proliferation GO:0060252 9.5 IL6 IL1B GFAP
16 D-aspartate import across plasma membrane GO:0070779 9.49 SLC1A2 GFAP
17 carbon dioxide transport GO:0015670 9.48 AQP5 AQP1
18 B cell costimulation GO:0031296 9.46 TNFSF13B IL4
19 water transport GO:0006833 9.43 AQP5 AQP4 AQP1
20 positive regulation of T cell proliferation GO:0042102 9.43 TNFSF13B IL6 IL4 IL1B HLA-DPB1 CD40LG
21 immune response GO:0006955 9.36 TNFSF13B MBP IL6 IL4 IL1B IL17A

Molecular functions related to Neuromyelitis Optica according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.3 TNFSF13B SLC1A2 S100B MOG MBP IL6
2 channel activity GO:0015267 9.33 AQP5 AQP4 AQP1
3 cytokine activity GO:0005125 9.28 TNFSF13B IL6 IL4 IL1B IL17A IFNA1
4 CXCR3 chemokine receptor binding GO:0048248 9.26 CXCL13 CXCL10
5 water channel activity GO:0015250 9.13 AQP5 AQP4 AQP1
Sources

Sources for Neuromyelitis Optica

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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