MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: optic nerve disease (MONDO:0002135)
..Starting node ..anterior ischemic optic neuropathy ()
Child Nodes:
........arteritic anterior ischemic optic neuropathy ()
........non-arteritic anterior ischemic optic neuropathy ()
Sister Nodes:
..anterior ischemic optic neuropathy ()
..extensive peripapillary myelinated nerve fibers ()
..low tension glaucoma ()
..optic atrophy ()
..optic disk drusen ()
..optic nerve neoplasm ()
..optic neuritis ()
..papilledema ()
..pseudopapilledema (disease) ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	6649
Name:	anterior ischemic optic neuropathy
Definition:	Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disc is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids . Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	aion; ischemic optic neuropathy; optic disc infarction leading to vision loss
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
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