MCID: NRM001
MIFTS: 58

Neuromyelitis Optica malady

Neuronal, Eye categories

Summaries for Neuromyelitis Optica

Sources:
44NINDS, 21Genetics Home Reference, 64Wikipedia, 33MalaCards
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NINDS:44 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 myelitis and transverse myelitis. 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 whole blood, brain and cortex, 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:64 Neuromyelitis optica (NMO), also known as Devic\'s disease or Devic\'s syndrome, is an heterogeneous... more...

Aliases & Classifications for Neuromyelitis Optica

Sources:
8Disease Ontology, 21Genetics Home Reference, 44NINDS, 10DISEASES, 45Novoseek, 49Orphanet, 31LifeMap Discovery™, 61UMLS, 27ICD9CM, 57SNOMED-CT, 40NCIt, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
neuromyelitis optica:
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

neuromyelitis optica 8 21 44 10 45 49 31 61
devic disease 21 49
devic neuromyelitis optica 21
devic's syndrome 44
devic's disease 21
optic-spinal ms 21
opticospinal ms 21
devic syndrome 21


External Ids:

Disease Ontology8 DOID:8869
ICD9CM27 341.0
NCIt40 C84934
MeSH35 D009471
MESH via Orphanet36 D009471
SNOMED-CT57 25044007
ICD10 via Orphanet26 G36.0
SNOMED-CT via Orphanet58 25044007
UMLS via Orphanet62 C0027873
ICD1025 G36.0

Related Diseases for Neuromyelitis Optica

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 122)
idRelated DiseaseScoreTop Affiliating Genes
1myelitis31.3AQP4, MBP
2transverse myelitis31.2AQP4, MBP
3acute disseminated encephalomyelitis30.8HCRT, MBP
4systemic lupus erythematosus30.8PDCD1, TNFSF13B, HLA-DPB1, HLA-DRB1, HLA-DQA1, PTPN22
5narcolepsy30.5HCRT, HLA-DRB1
6celiac disease30.5PTPN22, HLA-DQA1
7tuberculosis30.5HP, HLA-DRB1, MBP
8sjogren's syndrome30.3CXCL13, TNFSF13B
9primary progressive multiple sclerosis30.3MBP, MOG
10brain disease30.3MBP, HCRT, AQP4
11neuromyelitis optica spectrum disorder11.1
12n syndrome10.9
13devic disease10.6
14leber hereditary optic neuropathy10.5
15acute transverse myelitis10.5
16relapsing-remitting multiple sclerosis10.4
17hematopoietic stem cell transplantation10.4
18pulmonary tuberculosis10.3
19internuclear ophthalmoplegia10.3
20myelinoclastic diffuse sclerosis10.3
21moyamoya disease10.2
22parkinson's disease10.2
23autoimmune lymphoproliferative syndrome10.2
24syringomyelia10.2
25subacute sclerosing panencephalitis10.2
26lateral sclerosis10.2
27thalamic disease10.2
28arteriovenous malformation10.2
29mixed connective tissue disease10.2
30meningoencephalitis10.2
31japanese encephalitis10.2
32pemphigus10.2
33autoimmune hepatitis10.2
34progressive relapsing multiple sclerosis10.2
35mumps10.2
36hepatitis a10.2
37adenocarcinoma10.2
38amyotrophic lateral sclerosis10.2
39char syndrome10.2
40cutaneous sclerosis10.2
41cytomegalovirus retinitis10.2
42follicular lymphoma10.2
43klebsiella10.2
44pediatric multiple sclerosis10.2
45pemphigus foliaceus10.2
46susac syndrome10.2
47dysautonomia10.2
48myoclonus10.2
49multiple sclerosis 110.2
50h. pylori infection10.2

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



Diseases related to neuromyelitis optica

Clinical Features for Neuromyelitis Optica

Drugs & Therapeutics for Neuromyelitis Optica

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-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

Anatomical Context for Neuromyelitis Optica

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Neuromyelitis Optica:

33
Whole blood, Brain, Cortex, Spinal cord, Skeletal muscle, Prostate, T cells, B cells, Fetal brain, 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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Neuromyelitis Optica:

37
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

Sources:
51PubMed
See all sources

Articles related to Neuromyelitis Optica:

(show top 50)    (show all 600)
idTitleAuthorsYear
1
Plasma osteopontin levels are associated with disease activity in the patients with multiple sclerosis and neuromyelitis optica. (23910387)
2013
2
The usefulness of brain MRI at onset in the differentiation of multiple sclerosis and seropositive neuromyelitis optica spectrum disorders. (24072726)
2013
3
Helicobacter pylori infection in Neuromyelitis Optica and Multiple Sclerosis. (23295676)
2013
4
Acute disseminated encephalomyelitis, transverse myelitis, and neuromyelitis optica. (23917095)
2013
5
Long-term MRI findings in neuromyelitis optica: seropositive versus seronegative patients. (23279782)
2013
6
Utility of aquaporin-4 antibody assay in patients with neuromyelitis optica spectrum disorders. (23329699)
2013
7
Cerebrospinal fluid high-mobility group box protein 1 in neuromyelitis optica and multiple sclerosis. (23328212)
2013
8
Low Myo-inositol indicating astrocytic damage in a case series of neuromyelitis optica. (23553900)
2013
9
Optimizing the management of neuromyelitis optica and spectrum disorders in resource poor settings: Experience from the Mangalore demyelinating disease registry. (24339582)
2013
10
Patients with neuromyelitis optica have a more severe disease than patients with relapsingremitting multiple sclerosis, including higher risk of dying of a demyelinating disease. (23689404)
2013
11
Astrocytic autoantibody of neuromyelitis optica (NMO-IgG) binds to aquaporin-4 extracellular loops, monomers, tetramers and high order arrays. (22906356)
2013
12
"Bright spotty lesions" on spinal magnetic resonance imaging differentiate neuromyelitis optica from multiple sclerosis. (23828869)
2013
13
White matter disease: aquaporin-4 antibody-positive patients may not always fulfil the clinical criteria for neuromyelitis optica. (23752913)
2013
14
Impaired regulatory function and enhanced intrathecal activation of B cells in neuromyelitis optica: distinct from multiple sclerosis. (22864301)
2013
15
A limited form of neuromyelitis optica with a lesion of the fourth nerve nucleus. (24051420)
2013
16
What is the true clinicopathologic spectrum of neuromyelitis optica?-Reply. (23400728)
2013
17
Neuromyelitis optica-like pathology is dependent on type I interferon response. (23434493)
2013
18
Illuminating neuromyelitis optica pathogenesis. (22308524)
2012
19
Clinical usefulness of cell-based indirect immunofluorescence assay for the detection of aquaporin-4 antibodies in neuromyelitis optica spectrum disorder. (22950068)
2012
20
Cerebrospinal fluid BAFF and APRIL levels in neuromyelitis optica and multiple sclerosis patients during relapse. (22644841)
2012
21
Neuromyelitis optica: not a multiple sclerosis variant. (22487568)
2012
22
Treatment of optic neuritis by plasma exchange (add-on) in neuromyelitis optica. (22776923)
2012
23
Molecular pathogenesis of neuromyelitis optica. (23202933)
2012
24
Early presentation of neuromyelitis optica. (23255704)
2012
25
Brain MRI abnormalities in Brazilian patients with neuromyelitis optica. (22613491)
2012
26
Seroconversion of neuromyelitis optica spectrum disorder with hyperCKemia: a case report. (23157245)
2012
27
Molecular outcomes of neuromyelitis optica (NMO)-IgG binding to aquaporin-4 in astrocytes. (22128336)
2012
28
Human umbilical cord mesenchymal stem cell therapy on neuromyelitis optica. (22873728)
2012
29
Neuromyelitis optica. (22617743)
2012
30
Does detection of anti-AQP4 antibodies trump clinical criteria for neuromyelitis optica? (21813783)
2011
31
Increased T-cell immunity against aquaporin-4 and proteolipid protein in neuromyelitis optica. (21795759)
2011
32
Enhanced complement consumption in neuromyelitis optica and BehAset's disease patients. (21215465)
2011
33
New insights into neuromyelitis optica. (22087205)
2011
34
Brain involvement in neuromyelitis optica spectrum disorders. (22084126)
2011
35
Brain MRI in neuromyelitis optica: what is its role? (21870061)
2011
36
Cerebrospinal fluid levels of soluble amyloid precursor protein and I^-amyloid 42 in patients with multiple sclerosis, neuromyelitis optica and clinically isolated syndrome. (22289560)
2011
37
Cognitive function, depression, fatigue, and activities of daily living in patients with neuromyelitis optica after acute relapse. (21797812)
2011
38
Use of mitoxantrone in neuromyelitis optica. (21825252)
2011
39
Brain abnormalities in neuromyelitis optica. (21236446)
2011
40
Neuromyelitis optica and pulmonary tuberculosis: a case-control study. (22118177)
2011
41
Neuromyelitis optica: concepts in evolution. (21067820)
2011
42
Antibodies against aquaporin-4 in neuromyelitis optica: distinction between recurrent and monophasic patients. (21828202)
2011
43
Teaching NeuroImages: hiccoughs and vomiting in neuromyelitis optica. (20975046)
2010
44
Neuromyelitis optica: pathogenicity of patient immunoglobulin in vivo. (19937948)
2009
45
Plasma exchange in severe spinal attacks associated with neuromyelitis optica spectrum disorder. (19324982)
2009
46
Marked increase in cerebrospinal fluid glial fibrillar acidic protein in neuromyelitis optica: an astrocytic damage marker. (19372295)
2009
47
Narcolepsy as an initial manifestation of neuromyelitis optica with anti-aquaporin-4 antibody. (19266146)
2009
48
Neuromyelitis optica in patients with gluten sensitivity associated with antibodies to aquaporin-4. (18708571)
2008
49
Neuromyelitis optica]. (17934711)
2007
50
Loss of aquaporin-4 in active perivascular lesions in neuromyelitis optica: a case report. (16778375)
2006

Genetic Variations for Neuromyelitis Optica

Expression for genes affiliated with Neuromyelitis Optica

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 12EMD Millipore, 30KEGG, 38NCBI BioSystems Database, 52QIAGEN
See all sources

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

Sources:
60Tocris Bioscience, 45Novoseek, 11DrugBank, 29IUPHAR, 50PharmGKB, 24HMDB
See all sources

Compounds related to Neuromyelitis Optica according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1c3bot (154-182)6010.5MOG, MBP
2ono 25066010.5MOG, MBP
3nogo-66 (1-40)6010.5MOG, MBP
4mog (35-55)6010.5MOG, MBP
5plp (139-151)6010.4MOG, MBP
6aspartate4510.4GFAP, SLC1A2
72,3-cyclic nucleotide4510.4MOG, MBP, GFAP
8glatiramer acetate45 1111.4HLA-DRB1, MBP, MOG
9dpa 14510.4HLA-DPB1, HLA-DRB1, HLA-DQA1
10tetrodotoxin45 60 2912.3GFAP, HCRT, MBP
11polyacrylamide4510.2HLA-DQA1, CYP7A1, HP, GFAP
12polyethylene glycol4510.2GFAP, HP, MBP
13gaba4510.2MBP, HCRT, GFAP, SLC1A2
14silver4510.1GFAP, HP, HLA-DQA1, MBP, MOG
15dexamethasone45 50 29 1113.0HCRT, CD163, CYP7A1, HP, GFAP, AQP4
16kainate45 2911.0SLC1A2, GFAP, MBP
17oligonucleotide4510.0HLA-DPB1, HLA-DRB1, HLA-DQA1, HCRT, SLC1A2, AQP4
18adenylate4510.0MBP, HCRT, HP, GFAP, SLC1A2
19corticosterone45 60 2412.0MBP, HCRT, GFAP
20arginine459.9MBP, HLA-DRB1, HLA-DQA1, GFAP, SLC1A2, PTPN22
21alanine459.9MBP, TNFSF13B, HLA-DRB1, HCRT, HP, GFAP
22atp45 2910.8OPA1, HLA-DRB1, HCRT, CYP7A1, HP, GFAP
23cysteine459.8IFI30, MBP, HP, GFAP, SLC1A2, AQP4
24glucose459.7MOG, HCRT, CYP7A1, HP, GFAP, SLC1A2
25lipid459.7MOG, MBP, HCRT, CD163, CYP7A1, HP
26tyrosine459.7PDCD1, MBP, HLA-DRB1, HCRT, CYP7A1, HP
27acetylcholine45 50 29 11 2413.6GFAP, HCRT, MBP, MOG
28glutamate459.6AQP4, MBP, HLA-DPB1, HLA-DRB1, HCRT, HP

GO Terms for genes affiliated with Neuromyelitis Optica

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Neuromyelitis Optica

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet