MCID: NRM001
MIFTS: 64

Neuromyelitis Optica malady

Neuronal diseases, Eye diseases categories

Summaries for Neuromyelitis Optica

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Sources:
21Genetics Home Reference, 43NINDS, 63Wikipedia, 32MalaCards
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NINDS:43 Neuromyelitis optica (NMO) is an uncommon disease syndrome of the central nervous system (CNS) that affects the optic nerves and spinal cord. Individuals with NMO develop optic neuritis, which causes pain in the eye and vision loss, and transverse myelitis, which causes weakness, numbness, and sometimes paralysis of the arms and legs, along with sensory disturbances and loss of bladder and bowel control. NMO leads to loss of myelin, which is a fatty substance that surrounds nerve fibers and helps nerve signals move from cell to cell. The syndrome can also damage nerve fibers and leave areas of broken-down tissue. In the disease process of NMO, for reasons that aren't yet clear, immune system cells and antibodies attack and destroy myelin cells in the optic nerves and the spinal cord.

MalaCards: Neuromyelitis Optica, also known as devic disease, is related to multiple sclerosis and neuritis. An important gene associated with Neuromyelitis Optica is AQP4 (aquaporin 4), and among its related pathways are TCR signaling and Immune response T cell receptor signaling pathway. The compounds c3bot (154-182) and ono 2506 have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and eye, and related mouse phenotypes are vision/eye and mortality/aging.

Genetics Home Reference:21 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.

Wikipedia:63 Neuromyelitis optica (NMO), also known as Devic\'s disease or Devic\'s syndrome, is an heterogeneous... more...

Aliases & Classifications for Neuromyelitis Optica

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Sources:
8Disease Ontology, 21Genetics Home Reference, 43NINDS, 10DISEASES, 44Novoseek, 48Orphanet, 30LifeMap Discovery™, 60UMLS, 27ICD9CM, 56SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases, Eye diseases


Characteristics (Orphanet epidemiological data):

48
neuromyelitis optica:
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

neuromyelitis optica 8 21 43 10 44 48 30 60
devic disease 21 48
devic neuromyelitis optica 21
devic's syndrome 43
devic's disease 21
optic-spinal ms 21
opticospinal ms 21
devic syndrome 21


External Ids:

Disease Ontology8 DOID:8869
ICD9CM27 341.0
NCIt39 C84934
MeSH34 D009471
MESH via Orphanet35 D009471
SNOMED-CT56 25044007
ICD10 via Orphanet26 G36.0
SNOMED-CT via Orphanet57 25044007
UMLS via Orphanet61 C0027873
ICD1025 G36.0

Related Diseases for Neuromyelitis Optica

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Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Neuromyelitis Optica family:

Neuromyelitis Optica Spectrum Disorder

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

(show top 50)    (show all 125)
idRelated DiseaseScoreTop Affiliating Genes
1multiple sclerosis31.6PDCD1, MOG, MBP, TNFSF13B, HLA-DPB1, AQP4
2neuritis31.3MBP
3optic neuritis31.3AQP4, MBP, MOG
4myelitis31.3AQP4, MBP
5acute disseminated encephalomyelitis30.8HCRT, MBP
6encephalomyelitis30.8MOG, MBP, TNFSF13B, CXCL13, AQP4
7myasthenia gravis30.7HLA-DPB1, TNFSF13B, MBP, MOG
8systemic lupus erythematosus30.7PDCD1, TNFSF13B, HLA-DPB1, HLA-DRB1, HLA-DQA1, PTPN22
9connective tissue disease30.6PTPN22, HLA-DRB1
10narcolepsy30.4HCRT, HLA-DRB1
11celiac disease30.4PTPN22, HLA-DQA1
12tuberculosis30.4HP, HLA-DRB1, MBP
13encephalitis30.4MOG, MBP, GFAP, AQP4
14hepatitis30.2HP
15transverse myelitis30.2AQP4, MBP
16primary progressive multiple sclerosis30.2MBP, MOG
17glaucoma30.2MBP, OPA1, AQP4
18brain disease30.2MBP, HCRT, AQP4
19sarcoidosis30.2HLA-DRB1
20central nervous system disease30.2MOG, MBP, HCRT, GFAP
21retinitis10.6
22cerebritis10.5
23lupus erythematosus10.5
24neuropathy10.5
25relapsing-remitting multiple sclerosis10.4
26leber hereditary optic neuropathy10.4
27devic disease10.4
28pulmonary tuberculosis10.3
29internuclear ophthalmoplegia10.3
30neuronitis10.3
31cervicitis10.3
32cholesterol embolism10.3
33influenza10.3
34ophthalmoplegia10.3
35neuromyelitis optica spectrum disorder10.3
36moyamoya disease10.2
37parkinson's disease10.2
38autoimmune lymphoproliferative syndrome10.2
39syringomyelia10.2
40subacute sclerosing panencephalitis10.2
41lateral sclerosis10.2
42thalamic disease10.2
43arteriovenous malformation10.2
44mixed connective tissue disease10.2
45meningoencephalitis10.2
46japanese encephalitis10.2
47pemphigus10.2
48autoimmune hepatitis10.2
49progressive relapsing multiple sclerosis10.2
50mumps10.2

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



Diseases related to neuromyelitis optica

Clinical Features for Neuromyelitis Optica

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Drugs & Therapeutics for Neuromyelitis Optica

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Neuromyelitis Optica

Drug clinical trials:

Search ClinicalTrials for Neuromyelitis Optica

Search NIH Clinical Center for Neuromyelitis Optica

Search CenterWatch for Neuromyelitis Optica

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Neuromyelitis Optica cell therapies at LifeMap Discovery.

Genetic Tests for Neuromyelitis Optica

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Anatomical Context for Neuromyelitis Optica

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Sources:
30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Neuromyelitis Optica:

32
Spinal cord, Brain, Eye, T cells, B cells, Testes, Prostate, Skeletal muscle, Cortex, Hypothalamus

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Neuromyelitis Optica:
id TissueAnatomical CompartmentCell Relevance
1 Umbilical CordWharton's JellyMesenchymal Stem Cells Potential therapeutic candidate

Animal Models for Neuromyelitis Optica or affiliated genes

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Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Neuromyelitis Optica:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.2MOG, PDCD1, MBP, OPA1, CYP7A1, GFAP
2MP:00107689.0MBP, OPA1, PRDM1, CYP7A1, HP, IL17F
3MP:00053978.9MOG, PDCD1, MBP, TNFSF13B, HLA-DQA1, PRDM1
4MP:00053848.7OPA1, TNFSF13B, MBP, PDCD1, MOG, PRDM1
5MP:00053878.7AQP4, MOG, IFI30, PDCD1, MBP, TNFSF13B

Publications for Neuromyelitis Optica

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Sources:
50PubMed
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Articles related to Neuromyelitis Optica:

(show top 50)    (show all 599)
idTitleAuthorsYear
1
The two faces of neuromyelitis optica. (24415570)
2014
2
Update on the diagnosis and treatment of neuromyelitis optica: Recommendations of the Neuromyelitis Optica Study Group (NEMOS). (24272588)
2014
3
Does Aquaporin-4-Seronegative Neuromyelitis Optica Exist? (24424919)
2014
4
The epidemiology of neuromyelitis optica amongst adults in the Merseyside county of United Kingdom. (23689970)
2013
5
Persisting myelin oligodendrocyte glycoprotein antibodies in aquaporin-4 antibody negative pediatric neuromyelitis optica. (23257621)
2013
6
Neuromyelitis optica: clinical manifestations and neuroimaging features. (23186898)
2013
7
Autoimmune hepatitis in a patient affected by neuromyelitis optica: A new association. (24070901)
2013
8
Intrastriatal injection of interleukin-1 beta triggers the formation of neuromyelitis optica-like lesions in NMO-IgG seropositive rats. (24252536)
2013
9
Interleukin 6 receptor blockade in patients with neuromyelitis optica nonresponsive to anti-CD20 therapy. (23358868)
2013
10
Finding the missing link in neuromyelitis optica presenting with recurrent transverse myelitis flares. (24231565)
2013
11
Neuromyelitis Optica in Austria in 2011: To Bridge the Gap between Neuroepidemiological Research and Practice in a Study Population of 8.4 Million People. (24223985)
2013
12
Recent insights into the pathology of multiple sclerosis and neuromyelitis optica. (24321153)
2013
13
Anorexia heralding the onset of neuromyelitis optica. (23411707)
2013
14
Diagnosing neuromyelitis optica. (23608690)
2013
15
A 5-year follow-up of rituximab treatment in patients with neuromyelitis optica spectrum disorder. (23897062)
2013
16
Clinical relevance of serum aquaporin-4 antibody levels in neuromyelitis optica. (23456674)
2013
17
Clinical efficacy of plasmapheresis in patients with neuromyelitis optica spectrum disorder and effects on circulating anti-aquaporin-4 antibody levels. (23346159)
2013
18
Variants in the promoter region of CYP7A1 are associated with neuromyelitis optica but not with multiple sclerosis in the Han Chinese population. (23740208)
2013
19
What is the true clinicopathologic spectrum of neuromyelitis optica? (23400727)
2013
20
In vivo identification of morphologic retinal abnormalities in neuromyelitis optica. (23516321)
2013
21
Neuromyelitis optica in a Ugandan woman: a case report. (23829994)
2013
22
Novel advances in the diagnosis and treatment of neuromyelitis optica: is there a need to redefine the gold standard? (24128159)
2013
23
Reduced serum uric acid levels in neuromyelitis optica: serum uric acid levels are reduced during relapses in NMO. (22309305)
2012
24
Paroxysmal dystonia and neuromyelitis optica. (22358312)
2012
25
Quantitative assays for anti-aquaporin-4 antibody with subclass analysis in neuromyelitis optica. (22526930)
2012
26
Neuromyelitis optica in a patient with pemphigus foliaceus. (22632778)
2012
27
A rare case of mixed connective tissue disease complicated with neuromyelitis optica. (22832296)
2012
28
Comparison of visual acuity and automated perimetry findings in patients with neuromyelitis optica or multiple sclerosis after single or multiple attacks of optic neuritis. (22157535)
2012
29
Myelin-oligodendrocyte glycoprotein antibodies in adults with a neuromyelitis optica phenotype. (22914827)
2012
30
Pulmonary tuberculosis with neuromyelitis optica: an uncommon association of a common disease. (22868021)
2012
31
Conventional brain MRI in neuromyelitis optica. (22040258)
2012
32
The prevalence of neuromyelitis optica in South East Wales. (21967235)
2012
33
Neuromyelitis Optica Immunoglobulin G present in sera from neuromyelitis optica patients affects aquaporin-4 expression and water permeability of the astrocyte plasma membrane. (22354518)
2012
34
Advanced magnetic resonance imaging of neuromyelitis optica: a multiparametric approach. (22183930)
2012
35
Cerebrospinal fluid IL-21 levels in Neuromyelitis Optica and multiple sclerosis. (23041403)
2012
36
A small-molecule screen yields idiotype-specific blockers of neuromyelitis optica immunoglobulin G binding to aquaporin-4. (22989877)
2012
37
Leber hereditary optic neuropathy mimicking neuromyelitis optica. (21734595)
2011
38
Anti-aquaporin-4 antibody-positive familial neuromyelitis optica in mother and daughter. (21909659)
2011
39
Azathioprine: tolerability, efficacy, and predictors of benefit in neuromyelitis optica. (21813788)
2011
40
HLA-DRB1 typing in Caucasians patients with neuromyelitis optica]. (21748712)
2011
41
Bilateral Internuclear Ophthalmoplegia in a Patient with Devic's Neuromyelitis Optica. (21113284)
2010
42
Relapsing inflammatory optic neuritis: is it neuromyelitis optica? (18505981)
2008
43
Neuromyelitis optica/Devic's disease: gene expression profiling of brain lesions. (18410276)
2008
44
Aquaporin-4 antibodies in neuromyelitis optica and longitudinally extensive transverse myelitis. (18625857)
2008
45
Mechanisms of disease: aquaporin-4 antibodies in neuromyelitis optica. (18334978)
2008
46
Immune system markers of neuroinflammation in patients with clinical diagnose of neuromyelitis optica. (18949261)
2008
47
Relapsing neuromyelitis optica and relapsing-remitting multiple sclerosis: differentiation at diffusion-tensor MR imaging of corpus callosum. (17522347)
2007
48
Neuromyelitis optica: changing concepts. (17512987)
2007
49
Pattern-specific loss of aquaporin-4 immunoreactivity distinguishes neuromyelitis optica from multiple sclerosis. (17282996)
2007
50
Disseminated cholesterol embolism presenting as neuromyelitis optica. (3120915)
1987

Genetic Variations for Neuromyelitis Optica

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Expression for genes affiliated with Neuromyelitis Optica

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Neuromyelitis Optica

Search GEO for disease gene expression data for Neuromyelitis Optica.

Pathways for genes affiliated with Neuromyelitis Optica

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Sources:
53Reactome, 12EMD Millipore, 29KEGG, 37NCBI BioSystems Database, 51QIAGEN
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Pathways related to Neuromyelitis Optica according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.0HLA-DQA1, HLA-DRB1, HLA-DPB1
210.0HLA-DQA1, HLA-DRB1, HLA-DPB1
3
Immune response ICOS pathway in T-helper cell
Hide members
10.0HLA-DQA1, HLA-DRB1, HLA-DPB1
410.0HLA-DQA1, HLA-DRB1, HLA-DPB1
5
Immune response NFAT in immune response
Hide members
10.0HLA-DQA1, HLA-DRB1, HLA-DPB1
610.0HLA-DPB1, HLA-DRB1, HLA-DQA1
710.0HLA-DPB1, HLA-DRB1, HLA-DQA1
89.9MBP, TNFSF13B, GFAP, AQP4
9
Immune response Antigen presentation by MHC class II
Hide members
9.9IFI30, HLA-DPB1, HLA-DRB1, HLA-DQA1
10
Hide members
9.9IFI30, HLA-DPB1, HLA-DRB1, HLA-DQA1
119.9HLA-DQA1, HLA-DRB1, HLA-DPB1, IFI30
12
Hide members
9.9IL17F, HLA-DQA1, HLA-DRB1, HLA-DPB1
139.9HLA-DQA1, HLA-DRB1, HLA-DPB1, TNFSF13B
14
Hide members
9.9HLA-DQA1, HLA-DRB1, HLA-DPB1, PDCD1
159.9PDCD1, HLA-DPB1, HLA-DRB1, HLA-DQA1
16
Hide members
9.8IFI30, TNFSF13B, HLA-DPB1, HLA-DRB1, HLA-DQA1
17
Hide members
9.7PTPN22, HLA-DQA1, HLA-DRB1, HLA-DPB1, PDCD1

Compounds for genes affiliated with Neuromyelitis Optica

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Sources:
59Tocris Bioscience, 44Novoseek, 11DrugBank, 28IUPHAR, 49PharmGKB, 24HMDB
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Compounds related to Neuromyelitis Optica according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1c3bot (154-182)5910.5MOG, MBP
2ono 25065910.5MOG, MBP
3nogo-66 (1-40)5910.5MOG, MBP
4mog (35-55)5910.5MOG, MBP
5plp (139-151)5910.4MOG, MBP
6aspartate4410.4GFAP, SLC1A2
72,3-cyclic nucleotide4410.4MOG, MBP, GFAP
8glatiramer acetate44 1111.4HLA-DRB1, MBP, MOG
9dpa 14410.4HLA-DPB1, HLA-DRB1, HLA-DQA1
10tetrodotoxin44 59 2812.3GFAP, HCRT, MBP
11polyacrylamide4410.2HLA-DQA1, CYP7A1, HP, GFAP
12polyethylene glycol4410.2GFAP, HP, MBP
13gaba4410.2MBP, HCRT, GFAP, SLC1A2
14silver4410.1GFAP, HP, HLA-DQA1, MBP, MOG
15dexamethasone44 49 28 1113.0HCRT, CD163, CYP7A1, HP, GFAP, AQP4
16kainate44 2811.0SLC1A2, GFAP, MBP
17oligonucleotide4410.0HLA-DPB1, HLA-DRB1, HLA-DQA1, HCRT, SLC1A2, AQP4
18adenylate4410.0MBP, HCRT, HP, GFAP, SLC1A2
19corticosterone44 59 2412.0MBP, HCRT, GFAP
20arginine449.9MBP, HLA-DRB1, HLA-DQA1, GFAP, SLC1A2, PTPN22
21alanine449.9MBP, TNFSF13B, HLA-DRB1, HCRT, HP, GFAP
22atp44 2810.8OPA1, HLA-DRB1, HCRT, CYP7A1, HP, GFAP
23cysteine449.8IFI30, MBP, HP, GFAP, SLC1A2, AQP4
24glucose449.7MOG, HCRT, CYP7A1, HP, GFAP, SLC1A2
25lipid449.7MOG, MBP, HCRT, CD163, CYP7A1, HP
26tyrosine449.7PDCD1, MBP, HLA-DRB1, HCRT, CYP7A1, HP
27acetylcholine44 49 28 11 2413.6GFAP, HCRT, MBP, MOG
28glutamate449.6AQP4, MBP, HLA-DPB1, HLA-DRB1, HCRT, HP

GO Terms for genes affiliated with Neuromyelitis Optica

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Sources:
16Gene Ontology
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Cellular components related to Neuromyelitis Optica according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MHC class II protein complexGO:04261310.1HLA-DQA1, HLA-DRB1, HLA-DPB1
2clathrin-coated endocytic vesicle membraneGO:03066910.1HLA-DPB1, HLA-DRB1, HLA-DQA1
3integral to lumenal side of endoplasmic reticulum membraneGO:07155610.1HLA-DQA1, HLA-DRB1, HLA-DPB1
4transport vesicle membraneGO:03065810.0HLA-DPB1, HLA-DRB1, HLA-DQA1
5endocytic vesicle membraneGO:03066610.0CD163, HLA-DQA1, HLA-DRB1, HLA-DPB1
6ER to Golgi transport vesicle membraneGO:0125079.9HLA-DPB1, HLA-DRB1, HLA-DQA1
7trans-Golgi network membraneGO:0325889.7HLA-DPB1, HLA-DRB1, HLA-DQA1
8plasma membraneGO:0058868.9IFI30, PDCD1, MBP, TNFSF13B, HLA-DPB1, HLA-DRB1

Biological processes related to Neuromyelitis Optica according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1interferon-gamma-mediated signaling pathwayGO:06033310.0IFI30, HLA-DPB1, HLA-DRB1, HLA-DQA1
2cytokine-mediated signaling pathwayGO:0192219.9HLA-DQA1, HLA-DRB1, HLA-DPB1, IFI30
3T cell costimulationGO:0312959.9HLA-DQA1, HLA-DRB1, HLA-DPB1, TNFSF13B, PDCD1
4T cell receptor signaling pathwayGO:0508529.8PTPN22, HLA-DQA1, HLA-DRB1, HLA-DPB1
5antigen processing and presentation of exogenous peptide antigen via MHC class IIGO:0198869.8IFI30, HLA-DPB1, HLA-DRB1, HLA-DQA1
6immune responseGO:0069559.4MBP, TNFSF13B, HLA-DRB1, HLA-DQA1, CXCL13

Molecular functions related to Neuromyelitis Optica according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MHC class II receptor activityGO:03239510.1HLA-DQA1, HLA-DRB1

Products for genes affiliated with Neuromyelitis Optica

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Neuromyelitis Optica

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet