MCID: NRM001
MIFTS: 54

Neuromyelitis Optica malady

Neuronal diseases, Eye diseases, Rare diseases categories

Summaries for Neuromyelitis Optica

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Sources:
22Genetics Home Reference, 45NINDS, 66Wikipedia, 34MalaCards
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NINDS:45 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 acute disseminated encephalomyelitis. An important gene associated with Neuromyelitis Optica is AQP4 (aquaporin 4), and among its related pathways are Amino sugar and nucleotide sugar metabolism and Bile secretion. The compounds chitin and N-Acetyl-D-glucosamine have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and eye, and related mouse phenotype immune system.

Genetics Home Reference:22 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:66 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:
9Disease Ontology, 22Genetics Home Reference, 45NINDS, 11DISEASES, 46Novoseek, 50Orphanet, 32LifeMap Discoveryā„¢, 63UMLS, 41NCIt, 28ICD9CM, 36MeSH, 59SNOMED-CT, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 26ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
neuromyelitis optica:
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

neuromyelitis optica 9 22 45 11 46 50 32 63
devic disease 22 50
devic neuromyelitis optica 22
devic's syndrome 45
devic's disease 22
optic-spinal ms 22
opticospinal ms 22
devic syndrome 22


External Ids:

Disease Ontology9 DOID:8869
NCIt41 C84934
ICD9CM28 341.0
MeSH36 D009471
MESH via Orphanet37 D009471
SNOMED-CT59 25044007
ICD10 via Orphanet27 G36.0
SNOMED-CT via Orphanet60 25044007
UMLS via Orphanet64 C0027873
ICD1026 G36.0

Related Diseases for Neuromyelitis Optica

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Sources:
18GeneCards, 19GeneDecks
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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 80)
idRelated DiseaseScoreTop Affiliating Genes
1multiple sclerosis31.7CHIT1, HCRT, AQP4
2acute disseminated encephalomyelitis31.0AQP4
3neuromyelitis optica spectrum disorder11.1
4neuritis10.9
5optic neuritis10.9
6myelitis10.9
7transverse myelitis10.8
8retinitis10.7
9encephalomyelitis10.6
10devic disease10.6
11cerebritis10.6
12systemic lupus erythematosus10.6
13lupus erythematosus10.6
14myasthenia gravis10.6
15neuropathy10.6
16leber hereditary optic neuropathy10.4
17connective tissue disease10.4
18hematopoietic stem cell transplantation10.4
19narcolepsy10.4
20pulmonary tuberculosis10.4
21neuronitis10.4
22relapsing-remitting multiple sclerosis10.4
23internuclear ophthalmoplegia10.4
24celiac disease10.4
25cervicitis10.4
26cholesterol embolism10.4
27dystonia10.4
28encephalitis10.4
29influenza10.4
30ophthalmoplegia10.4
31tuberculosis10.4
32syndrome of inappropriate antidiuretic hormone10.4
33myelinoclastic diffuse sclerosis10.4
34lateral sclerosis10.2
35syringomyelia10.2
36subacute sclerosing panencephalitis10.2
37autoimmune lymphoproliferative syndrome10.2
38follicular lymphoma10.2
39pemphigus10.2
40japanese encephalitis10.2
41meningoencephalitis10.2
42autoimmune hepatitis10.2
43mumps10.2
44arteriovenous malformation10.2
45mixed connective tissue disease10.2
46primary progressive multiple sclerosis10.2
47parkinson's disease10.2
48moyamoya disease10.2
49adenocarcinoma10.2
50amyotrophic lateral sclerosis10.2

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



Diseases related to neuromyelitis optica

Symptoms for Neuromyelitis Optica

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Drugs & Therapeutics for Neuromyelitis Optica

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 32LifeMap Discoveryā„¢, 63UMLS, 42NDF-RT
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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:
32LifeMap Discoveryā„¢, 34MalaCards
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MalaCards organs/tissues related to Neuromyelitis Optica:

34
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:
38MGI
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MGI Mouse Phenotypes related to Neuromyelitis Optica:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.6IL17F, IFI30, CHIT1, AQP4

Publications for Neuromyelitis Optica

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Sources:
53PubMed
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Articles related to Neuromyelitis Optica:

(show top 50)    (show all 598)
idTitleAuthorsYear
1
The two faces of neuromyelitis optica. (24415570)
2014
2
IL-22 secreting CD4+ T cells in the patients with neuromyelitis optica and multiple sclerosis. (23726764)
2013
3
Plasma osteopontin levels are associated with disease activity in the patients with multiple sclerosis and neuromyelitis optica. (23910387)
2013
4
The epidemiology of neuromyelitis optica amongst adults in the Merseyside county of United Kingdom. (23689970)
2013
5
Aquaporin-4 autoantibodies in Neuromyelitis Optica: AQP4 isoform-dependent sensitivity and specificity. (24260168)
2013
6
Ultrahigh-Field MR (7a88T) Imaging of Brain Lesions in Neuromyelitis Optica. (23431447)
2013
7
Longitudinal follow-up of vision in a neuromyelitis optica cohort. (23413296)
2013
8
The usefulness of brain MRI at onset in the differentiation of multiple sclerosis and seropositive neuromyelitis optica spectrum disorders. (24072726)
2013
9
Persisting myelin oligodendrocyte glycoprotein antibodies in aquaporin-4 antibody negative pediatric neuromyelitis optica. (23257621)
2013
10
Hypogeusia as a symptom of neuromyelitis optica spectrum disorder. (23319070)
2013
11
Eosinophil pathogenicity mechanisms and therapeutics in neuromyelitis optica. (23563310)
2013
12
Factors associated with the effectiveness of plasma exchange for the treatment of NMO-IgG-positive neuromyelitis optica spectrum disorders. (23263897)
2013
13
Interferon alpha association with neuromyelitis optica. (24348680)
2013
14
Visual field characteristics in neuromyelitis optica in absence of and after one episode of optic neuritis. (23807832)
2013
15
Helicobacter pylori infection in Neuromyelitis Optica and Multiple Sclerosis. (23295676)
2013
16
Neuromyelitis optica: clinical manifestations and neuroimaging features. (23186898)
2013
17
Factors associated with the time to next attack in neuromyelitis optica: accelerated failure time models with random effects. (24358171)
2013
18
Evaluation of inner retinal layers in patients with multiple sclerosis or neuromyelitis optica using optical coherence tomography. (23084127)
2013
19
Possible second motor neuron damage in neuromyelitis optica. (24113331)
2013
20
Anti-aquaporin-1 autoantibodies in patients with neuromyelitis optica spectrum disorders. (24086369)
2013
21
A case of neuromyelitis optica harboring both anti-aquaporin-4 antibodies and a pathogenic mitochondrial DNA mutation for Leber's hereditary optic neuropathy: clinical commentary. (24323818)
2013
22
Responsiveness to reduced dosage of rituximab in Chinese patients with neuromyelitis optica. (23884041)
2013
23
Illuminating neuromyelitis optica pathogenesis. (22308524)
2012
24
Anti-aquaporin-4 antibody-positive definite neuromyelitis optica in a patient with thymectomy for myasthenia gravis. (22367834)
2012
25
Neuromyelitis optica: an antibody-mediated disorder of the central nervous system. (22363840)
2012
26
Reduced serum uric acid levels in neuromyelitis optica: serum uric acid levels are reduced during relapses in NMO. (22309305)
2012
27
Development of extensive brain lesions following fingolimod (FTY720) treatment in a patient with neuromyelitis optica spectrum disorder. (22146605)
2012
28
Aquaporin-4 Mz isoform: brain expression, supramolecular assembly and neuromyelitis optica antibody binding. (21491501)
2011
29
Interleukin 6 signaling promotes anti-aquaporin 4 autoantibody production from plasmablasts in neuromyelitis optica. (21321193)
2011
30
Efficacy and safety of rituximab in pediatric neuromyelitis optica. (21183724)
2011
31
The prevalence of long spinal cord lesions and anti-aquaporin 4 antibodies in neuromyelitis optica patients in Taiwan. (21273778)
2011
32
Neuromyelitis optica spectrum disorder in patients with connective tissue disease and myelitis. (21523924)
2011
33
Aquaporin-4: orthogonal array assembly, CNS functions, and role in neuromyelitis optica. (21552296)
2011
34
Chitinase effects on immune cell response in neuromyelitis optica and multiple sclerosis. (21159721)
2011
35
Neuromyelitis optica and astrocytic damage in its pathogenesis. (21396661)
2011
36
The rescue effect of plasma exchange for neuromyelitis optica. (20888238)
2011
37
Association of Th1/Th2-related chemokine receptors in peripheral T cells with disease activity in patients with multiple sclerosis and neuromyelitis optica. (21846991)
2011
38
Does detection of anti-AQP4 antibodies trump clinical criteria for neuromyelitis optica? (21813783)
2011
39
Neuromyelitis optica: a review. (21958184)
2011
40
Functional characterization of aquaporin-4 specific T cells: towards a model for neuromyelitis optica. (21264240)
2011
41
Autoimmunity in neuromyelitis optica and opticospinal multiple sclerosis: astrocytopathy as a common denominator in demyelinating disorders. (21962794)
2011
42
Bilateral Internuclear Ophthalmoplegia in a Patient with Devic's Neuromyelitis Optica. (21113284)
2010
43
Symptomatic narcolepsy in patients with neuromyelitis optica and multiple sclerosis: new neurochemical and immunological implications. (20008665)
2009
44
Clinical course of optic neuritis in patients with relapsing neuromyelitis optica. (18195212)
2008
45
Neuromyelitis optica]. (17934711)
2007
46
The spectrum of neuromyelitis optica. (17706564)
2007
47
Neuromyelitis optica brain lesions localized at sites of high aquaporin 4 expression. (16831965)
2006
48
Activation of humoral immunity and eosinophils in neuromyelitis optica. (15623701)
2004
49
Neuromyelitis optica (Devic's syndrome): no association with the primary mitochondrial DNA mutations found in Leber hereditary optic neuropathy. (9010406)
1997
50
Devic's neuromyelitis optica and Schilder's myelinoclastic diffuse sclerosis. (1343820)
1992

Variations for Neuromyelitis Optica

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Expression for genes affiliated with Neuromyelitis Optica

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Sources:
2BioGPS, 16Gene 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:
51PathCards, 31KEGG, 39NCBI BioSystems Database
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Pathways related to Neuromyelitis Optica according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
colanic acid building blocks biosynthesis39
N-acetylglucosamine degradation I39
CMP-N-acetylneuraminate biosynthesis I (eukaryotes)39
UDP-D-xylose and UDP-D-glucuronate biosynthesis39
N-acetylglucosamine degradation II39
UDP-N-acetyl-D-glucosamine biosynthesis II39
UDP-N-acetyl-D-galactosamine biosynthesis II39
GDP-L-fucose biosynthesis I (from GDP-D-mannose)39
9.3CHIA, CHIT1
29.3AQP4, CYP7A1

Compounds for genes affiliated with Neuromyelitis Optica

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Sources:
46Novoseek, 25HMDB, 12DrugBank, 52PharmGKB, 30IUPHAR
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Compounds related to Neuromyelitis Optica according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1chitin46 2510.4CHIA, CHIT1
2N-Acetyl-D-glucosamine25 1210.2CHIT1, CHIA
3dexamethasone46 52 30 1211.8AQP4, HCRT, CYP7A1
4Water258.1CHIA, CHIT1, AQP4, CYP7A1
5lipid467.7CHIA, CHIT1, HCRT, CYP7A1

GO Terms for genes affiliated with Neuromyelitis Optica

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17Gene Ontology
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Cellular components related to Neuromyelitis Optica according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.1IFI30, CHIT1
2extracellular spaceGO:0056158.9IL17F, CHIA, CHIT1

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

idNameGO IDScoreTop Affiliating Genes
1chitin catabolic processGO:0060329.3CHIA, CHIT1
2polysaccharide catabolic processGO:0002729.0CHIA, CHIT1

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

idNameGO IDScoreTop Affiliating Genes
1chitinase activityGO:0045689.3CHIA, CHIT1
2chitin bindingGO:0080619.0CHIA, CHIT1

Products for genes affiliated with Neuromyelitis Optica

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Neuromyelitis Optica

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet