Details of Disease

General Information of Disease (ID: DISBFGKL)

• Disease Name: Neuromyelitis optica
• Synonyms: Devic's neuromyelitis optica; NMO; Devic syndrome; Devic's disease; Neuromyelitis Optica Spectrum Disorder; Devic disease; Devic's syndrome
• Disease Class: 8A43: Neuromyelitis optica
• Definition: A rare inflammatory disease of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.
• Disease Hierarchy:
  DISI21WD: Autoimmune/inflammatory optic neuropathy
  DISCFBRD: Neurological disorder
  DISBFGKL: Neuromyelitis optica
• ICD Code:
  ICD-11: ICD-11: 8A43
  ICD-10: ICD-10: G36.0
  ICD-9: ICD-9: 341
  Expand ICD-11: '8A43
  Expand ICD-10: 'G36.0
  Expand ICD-9: 341
• Disease Identifiers:
  MONDO ID: MONDO_0019100
  MESH ID: D009471
  UMLS CUI: C0027873
  MedGen ID: 45063
  Orphanet ID: 71211
  SNOMED CT ID: 25044007

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Eculizumab	DMJGWZ7	Approved	Monoclonal antibody	[1]

This Disease is Treated as An Indication in 4 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
BQ788	DM6KRLW	Phase 3	Small molecular drug	[2]
SA-237	DM7F2VG	Phase 3	NA	[3]
MEDI-551	DMBTVFE	Phase 2	Antibody	[2]
SHP616	DMO0CA8	Phase 1	NA	[4]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 29 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ZNF606	OTUSM00P	Limited	Autosomal dominant	[5]
AQP4	OTA9MYD5	Limited	Unknown	[5]
C3orf20	OTIK1IL8	Limited	Autosomal dominant	[5]
C5orf47	OTXSU28G	Limited	Autosomal dominant	[5]
CCL26	OT2B7HR9	Limited	Altered Expression	[25]
CISH	OT8T5NYL	Limited	Biomarker	[26]
FCRL3	OTIFXFWL	Limited	Genetic Variation	[27]
GTF2I	OTUYL1TQ	Limited	Genetic Variation	[28]
MINDY4	OTBZ2SZB	Limited	Biomarker	[10]
RBM45	OTWTHD77	moderate	Genetic Variation	[29]
ASCC2	OT3B204T	Strong	Biomarker	[30]
CCL13	OTNX0JD0	Strong	Altered Expression	[31]
CFHR1	OT72R16T	Strong	Biomarker	[32]
CH25H	OT9S2BSW	Strong	Biomarker	[33]
CSAD	OT3I2G0A	Strong	Biomarker	[34]
EIF3K	OTGTKVGO	Strong	Biomarker	[35]
GPC5	OT8NR7GC	Strong	Genetic Variation	[36]
GTF2IRD1	OTEG9KU1	Strong	Genetic Variation	[28]
IFI30	OT9DERT1	Strong	Biomarker	[37]
IL36A	OTHBEL5H	Strong	Altered Expression	[38]
KRT20	OT4RB40L	Strong	Biomarker	[17]
OAS3	OT6E5FYS	Strong	Biomarker	[30]
QKI	OTTAUGLB	Strong	Biomarker	[39]
RASL12	OTNAK9X4	Strong	Genetic Variation	[40]
SART3	OTC1AM7S	Strong	Biomarker	[30]
SULT1A4	OTHJ8WWV	Strong	Biomarker	[23]
TAFA5	OT2SWBT6	Strong	Biomarker	[41]
TNXB	OTVBWAV5	Strong	Genetic Variation	[42]
TSPAN33	OTH6C0WU	Strong	Biomarker	[43]

This Disease Is Related to 16 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CD19	TTW640A	Limited	Biomarker	[6]
CD58	TT5KSBY	Limited	Genetic Variation	[7]
IL31	TT1RJXK	Limited	Biomarker	[8]
LAMC2	TTNS7H3	moderate	Biomarker	[9]
AQP1	TTSF1KH	Strong	Biomarker	[10]
CD27	TTDO1MV	Strong	Biomarker	[11]
CD59	TTBGTEJ	Strong	Biomarker	[12]
CXCL13	TT0NIZ1	Strong	Biomarker	[11]
GFAP	TTI6FFX	Strong	Altered Expression	[13]
IFNAR2	TTMQB37	Strong	Biomarker	[14]
IL7R	TTAWI51	Strong	Altered Expression	[15]
MBP	TT2RY5P	Strong	Biomarker	[16]
MS4A1	TTUE541	Strong	Biomarker	[17]
RGMA	TTURJV4	Strong	Biomarker	[18]
SERPING1	TTVQ6R9	Strong	Biomarker	[19]
UBC	TTBP3XA	Strong	Biomarker	[20]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC26A5	DTPGHJ7	Strong	Biomarker	[21]

This Disease Is Related to 3 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP7A1	DEDZRQ1	Strong	Genetic Variation	[22]
SULT1A3	DEP7E8X	Strong	Biomarker	[23]
TPMT	DEFQ8VO	Strong	Genetic Variation	[24]

References

• [1] Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health & Human Services. 2015
• [2] Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
• [3] Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
• [4] Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
• [5] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
• [6] Inebilizumab for the treatment of neuromyelitis optica spectrum disorder (N-MOmentum): a double-blind, randomised placebo-controlled phase 2/3 trial.Lancet. 2019 Oct 12;394(10206):1352-1363. doi: 10.1016/S0140-6736(19)31817-3. Epub 2019 Sep 5.
• [7] Association of CD58 gene polymorphisms with NMO spectrum disorders in a Han Chinese population.J Neuroimmunol. 2017 Aug 15;309:23-30. doi: 10.1016/j.jneuroim.2017.05.003. Epub 2017 May 11.
• [8] Low levels of vitamin D and the relationship between vitamin D and Th2 axis-related cytokines in neuromyelitis optica spectrum disorders.J Clin Neurosci. 2019 Mar;61:22-27. doi: 10.1016/j.jocn.2018.11.024. Epub 2019 Jan 25.
• [9] Serum GFAP and neurofilament light as biomarkers of disease activity and disability in NMOSD.Neurology. 2019 Sep 24;93(13):e1299-e1311. doi: 10.1212/WNL.0000000000008160. Epub 2019 Aug 30.
• [10] Predictive Value of Serum Antibodies and Point Mutations of AQP4, AQP1 and MOG in A Cohort of Spanish Patients with Neuromyelitis Optica Spectrum Disorders.Int J Mol Sci. 2019 Nov 19;20(22):5810. doi: 10.3390/ijms20225810.
• [11] Cerebrospinal Fluid Level of Soluble CD27 Is Associated with Disease Severity in Neuromyelitis Optica Spectrum Disorder.Neuroimmunomodulation. 2018;25(4):185-192. doi: 10.1159/000489561. Epub 2018 Nov 13.
• [12] Marked central nervous system pathology in CD59 knockout rats following passive transfer of Neuromyelitis optica immunoglobulin G.Acta Neuropathol Commun. 2017 Feb 17;5(1):15. doi: 10.1186/s40478-017-0417-9.
• [13] Repetitive intrathecal injection of human NMO-IgG with complement exacerbates disease severity with NMO pathology in experimental allergic encephalomyelitis mice.Mult Scler Relat Disord. 2019 May;30:225-230. doi: 10.1016/j.msard.2019.02.025. Epub 2019 Feb 25.
• [14] Neuromyelitis optica-like pathology is dependent on type I interferon response.Exp Neurol. 2013 Sep;247:744-7. doi: 10.1016/j.expneurol.2013.02.005. Epub 2013 Feb 20.
• [15] Reduced expression of the IL7Ra signaling pathway in Neuromyelitis optica.J Neuroimmunol. 2018 Nov 15;324:81-89. doi: 10.1016/j.jneuroim.2018.08.011. Epub 2018 Aug 29.
• [16] Mycobacterium avium subspecies paratuberculosis and myelin basic protein specific epitopes are highly recognized by sera from patients with Neuromyelitis optica spectrum disorder.J Neuroimmunol. 2018 May 15;318:97-102. doi: 10.1016/j.jneuroim.2018.02.013. Epub 2018 Feb 28.
• [17] Two cases of aquaporin-4 positive neuromyelitis optica associated with T-cell lymphoma.J Neuroimmunol. 2020 Jan 15;338:577092. doi: 10.1016/j.jneuroim.2019.577092. Epub 2019 Oct 30.
• [18] Inhibition of RGMa alleviates symptoms in a rat model of neuromyelitis optica.Sci Rep. 2018 Jan 8;8(1):34. doi: 10.1038/s41598-017-18362-2.
• [19] Cerebrospinal fluid complement system biomarkers in demyelinating disease.Mult Scler. 2020 Dec;26(14):1929-1937. doi: 10.1177/1352458519887905. Epub 2019 Nov 8.
• [20] Paraneoplastic Neuromyelitis Optica Spectrum Disorder: A single center cohort description with two cases of histological validation.Mult Scler Relat Disord. 2018 Feb;20:37-42. doi: 10.1016/j.msard.2017.12.012. Epub 2017 Dec 23.
• [21] Headache in Neuromyelitis Optica.Curr Pain Headache Rep. 2017 Apr;21(4):20. doi: 10.1007/s11916-017-0620-1.
• [22] Variants in the promoter region of CYP7A1 are associated with neuromyelitis optica but not with multiple sclerosis in the Han Chinese population.Neurosci Bull. 2013 Oct;29(5):525-30. doi: 10.1007/s12264-013-1347-6. Epub 2013 Jun 5.
• [23] Short segment myelitis as a first manifestation of neuromyelitis optica spectrum disorders.Mult Scler. 2017 Mar;23(3):413-419. doi: 10.1177/1352458516687043. Epub 2017 Jan 9.
• [24] Association between TPMT*3C and decreased thiopurine S-methyltransferase activity in patients with neuromyelitis optica spectrum disorders in China.Int J Neurosci. 2018 Jun;128(6):549-553. doi: 10.1080/00207454.2017.1401621. Epub 2017 Dec 1.
• [25] CCL26 and CCR3 are associated with the acute inflammatory response in the CNS in experimental autoimmune encephalomyelitis.J Neuroimmunol. 2019 Aug 15;333:576967. doi: 10.1016/j.jneuroim.2019.576967. Epub 2019 May 16.
• [26] Brain and spinal cord lesion criteria distinguishes AQP4-positive neuromyelitis optica and MOG-positive disease from multiple sclerosis.Mult Scler Relat Disord. 2018 Oct;25:246-250. doi: 10.1016/j.msard.2018.08.008. Epub 2018 Aug 9.
• [27] Significant Association Between Fc Receptor-Like 3 Polymorphisms (-1901A>G and -658C>T) and Neuromyelitis Optica (NMO) Susceptibility in the Chinese Population.Mol Neurobiol. 2016 Jan;53(1):686-694. doi: 10.1007/s12035-014-9036-7. Epub 2015 Jan 10.
• [28] Association of GTF2IRD1-GTF2I polymorphisms with neuromyelitis optica spectrum disorders in Han Chinese patients.Neural Regen Res. 2019 Feb;14(2):346-353. doi: 10.4103/1673-5374.244800.
• [29] Analysis of prognostic factors associated with longitudinally extensive transverse myelitis.Mult Scler. 2013 May;19(6):742-8. doi: 10.1177/1352458512461968. Epub 2012 Oct 4.
• [30] Longitudinal optic neuritis-unrelated visual evoked potential changes in NMO spectrum disorders.Neurology. 2020 Jan 28;94(4):e407-e418. doi: 10.1212/WNL.0000000000008684. Epub 2019 Dec 3.
• [31] Elevated Plasma Chemokines for Eosinophils in Neuromyelitis Optica Spectrum Disorders during Remission.Front Neurol. 2018 Feb 12;9:44. doi: 10.3389/fneur.2018.00044. eCollection 2018.
• [32] CFHR1-Modified Neural Stem Cells Ameliorated Brain Injury in a Mouse Model of Neuromyelitis Optica Spectrum Disorders.J Immunol. 2016 Nov 1;197(9):3471-3480. doi: 10.4049/jimmunol.1600135. Epub 2016 Sep 26.
• [33] Analysis of CH25H in multiple sclerosis and neuromyelitis optica.J Neuroimmunol. 2016 Feb 15;291:70-2. doi: 10.1016/j.jneuroim.2015.12.014. Epub 2015 Dec 31.
• [34] Comparison of probabilistic tractography and tract-based spatial statistics for assessing optic radiation damage in patients with autoimmune inflammatory disorders of the central nervous system.Neuroimage Clin. 2018 May 8;19:538-550. doi: 10.1016/j.nicl.2018.05.004. eCollection 2018.
• [35] Neuromyelitis optica spectrum disorder presenting with concurrent autoimmune diseases.Mult Scler Relat Disord. 2019 Feb;28:125-128. doi: 10.1016/j.msard.2018.12.028. Epub 2018 Dec 20.
• [36] Putative association of GPC5 polymorphism with the risk of inflammatory demyelinating diseases.J Neurol Sci. 2013 Dec 15;335(1-2):82-8. doi: 10.1016/j.jns.2013.08.031. Epub 2013 Aug 30.
• [37] Neuromyelitis optica/Devic's disease: gene expression profiling of brain lesions.Neuropathology. 2008 Dec;28(6):561-76. doi: 10.1111/j.1440-1789.2008.00915.x. Epub 2008 Apr 7.
• [38] Interleukin-36 alpha levels are elevated in the serum and cerebrospinal fluid of patients with neuromyelitis optica spectrum disorder and correlate with disease activity.Immunobiology. 2019 May;224(3):397-401. doi: 10.1016/j.imbio.2019.02.008. Epub 2019 Mar 1.
• [39] QKI-V5 is downregulated in CNS inflammatory demyelinating diseases.Mult Scler Relat Disord. 2020 Apr;39:101881. doi: 10.1016/j.msard.2019.101881. Epub 2019 Dec 4.
• [40] The diagnosis of multiple sclerosis and the various related demyelinating syndromes: a critical review.J Autoimmun. 2014 Feb-Mar;48-49:134-42. doi: 10.1016/j.jaut.2014.01.022. Epub 2014 Feb 10.
• [41] Serum FAM19A5 in neuromyelitis optica spectrum disorders: Can it be a new biomarker representing clinical status?.Mult Scler. 2020 Nov;26(13):1700-1707. doi: 10.1177/1352458519885489. Epub 2019 Nov 4.
• [42] A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica.Nat Commun. 2018 May 16;9(1):1929. doi: 10.1038/s41467-018-04332-3.
• [43] Unique neuromyelitis optica pathology produced in nave rats by intracerebral administration of NMO-IgG.Acta Neuropathol. 2014 Apr;127(4):539-51. doi: 10.1007/s00401-013-1204-8. Epub 2013 Nov 5.