Details of Disease

Disease Name

Optic nerve disorder

second cranial nerve disorder; optic neuropathy; optic nerve disorder; disorder of the second nerve; disorder of cranial nerve II; disease or disorder of cranial nerve II; disease of cranial nerve II; cranial nerve II disease or disorder; cranial nerve II disease

Definition

A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve).

Disease Hierarchy

DISWD40R: Disease

DISEP2HK: Central and peripheral nervous disease

DIS2J1QW: Cranial nerve neuropathy

DISQ1B1S: Disorder of visual system

DISSOQM8: Optic nerve disorder

Disease Identifiers

MONDO ID

MONDO_0002135

UMLS CUI

C3887709

MedGen ID

854546

HPO ID

HP:0001138

General Information of Disease (ID: DISSOQM8)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DPYSL2	TTZCW3T	moderate	Posttranslational Modification	[1]
P2RY6	TTNVSKA	moderate	Biomarker	[2]
ACO2	TTMTF2P	Strong	Genetic Variation	[3]
MOG	TTQAFX5	Strong	Biomarker	[4]
OPA1	TTTU49Q	Strong	Biomarker	[5]
------------------------------------------------------------------------------------

This Disease Is Related to 14 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KARS1	OT0EU4SV	Limited	Genetic Variation	[6]
ND1	OTCLGIXV	Limited	Genetic Variation	[7]
ND4	OT4RQVAA	Limited	Genetic Variation	[8]
NDUFA1	OTKBUQXP	Limited	Biomarker	[9]
OPA3	OT6NDC1M	Limited	Genetic Variation	[10]
PRPS1	OTN3A6CN	Limited	Biomarker	[11]
RTN4IP1	OTHUZANE	Limited	Genetic Variation	[12]
KNTC1	OTI2OOFN	moderate	Biomarker	[13]
MMD	OTB5I4OC	moderate	Genetic Variation	[14]
SSBP1	OTH2PZWH	moderate	Genetic Variation	[15]
ATP8	OTYQQR53	Strong	Genetic Variation	[16]
KIF1A	OT3JVEGV	Strong	CausalMutation	[17]
MYOC	OT6DAHNF	Strong	Genetic Variation	[18]
ND6	OTG47B7B	Strong	Genetic Variation	[19]
------------------------------------------------------------------------------------


⏷ Show the Full List of 14 DOT(s)

References

1	Induction of CRMP-2 phosphorylation by CDK5 restricts the repair of damaged optic nerve.J Cell Physiol. 2019 Jul;234(7):11240-11246. doi: 10.1002/jcp.27778. Epub 2018 Dec 10.
2	Purinergic dysregulation causes hypertensive glaucoma-like optic neuropathy.JCI Insight. 2017 Oct 5;2(19):e93456. doi: 10.1172/jci.insight.93456.
3	A sibling study of isolated optic neuropathy associated with novel variants in the ACO2 gene.Ophthalmic Genet. 2018 Oct;39(5):648-651. doi: 10.1080/13816810.2018.1509353. Epub 2018 Aug 17.
4	Antibodies to myelin oligodendrocyte glycoprotein in chronic relapsing inflammatory optic neuropathy.Br J Ophthalmol. 2019 Oct;103(10):1423-1428. doi: 10.1136/bjophthalmol-2018-313142. Epub 2018 Dec 4.
5	OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database.Orphanet J Rare Dis. 2019 Sep 10;14(1):214. doi: 10.1186/s13023-019-1187-1.
6	Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy.Hum Mutat. 2019 Oct;40(10):1826-1840. doi: 10.1002/humu.23799. Epub 2019 Jun 18.
7	Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions.BMC Neurol. 2014 May 28;14:116. doi: 10.1186/1471-2377-14-116.
8	An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 gene.Am J Hum Genet. 1990 Oct;47(4):629-34.
9	Suppression of complex I gene expression induces optic neuropathy.Ann Neurol. 2003 Feb;53(2):198-205. doi: 10.1002/ana.10426.
10	Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy.PLoS One. 2017 Jan 12;12(1):e0170090. doi: 10.1371/journal.pone.0170090. eCollection 2017.
11	New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.Mol Genet Genomic Med. 2019 Sep;7(9):e875. doi: 10.1002/mgg3.875. Epub 2019 Jul 23.
12	Siblings with optic neuropathy and RTN4IP1 mutation.J Hum Genet. 2017 Oct;62(10):927-929. doi: 10.1038/jhg.2017.68. Epub 2017 Jun 22.
13	Magnetic resonance imaging indicator of the causes of optic neuropathy in IgG4-related ophthalmic disease.BMC Med Imaging. 2019 Jun 18;19(1):49. doi: 10.1186/s12880-019-0347-z.
14	Optic neuropathy in classical methylmalonic acidemia.Ophthalmic Genet. 2019 Aug;40(4):313-322. doi: 10.1080/13816810.2019.1634740. Epub 2019 Jul 4.
15	SSBP1 faux pas in mitonuclear tango causes optic neuropathy.J Clin Invest. 2020 Jan 2;130(1):62-64. doi: 10.1172/JCI132532.
16	In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes.Eur J Med Genet. 2017 Mar;60(3):172-177. doi: 10.1016/j.ejmg.2016.12.009. Epub 2016 Dec 24.
17	De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. Eur J Hum Genet. 2016 Jun;24(6):949-53. doi: 10.1038/ejhg.2015.217. Epub 2015 Oct 21.
18	The glaucoma-associated olfactomedin domain of myocilin is a novel calcium binding protein.J Biol Chem. 2012 Dec 21;287(52):43370-7. doi: 10.1074/jbc.M112.408906. Epub 2012 Nov 5.
19	The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.Brain. 2001 Jan;124(Pt 1):209-18. doi: 10.1093/brain/124.1.209.