LHON
MCID: LBR002
MIFTS: 64

Leber Hereditary Optic Neuropathy (LHON) malady

Genetic diseases, Rare diseases, Eye diseases, Metabolic diseases, Neuronal diseases categories

Summaries for Leber Hereditary Optic Neuropathy

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OMIM:46 LHON presents in midlife as acute or subacute central vision loss leading to central scotoma and blindness. The disease... (535000) more...

MalaCards based summary: Leber Hereditary Optic Neuropathy, also known as leber's hereditary optic neuropathy, is related to leber hereditary optic neuropathy with dystonia and mitochondrial complex i deficiency, and has symptoms including optic neuropathy, optic atrophy and x-linked inheritance. An important gene associated with Leber Hereditary Optic Neuropathy is MT-ND4 (mitochondrially encoded NADH dehydrogenase 4), and among its related pathways are Cardiac muscle contraction and Metformin Pathway, Pharmacodynamic. The compounds solium and myxothiazol have been mentioned in the context of this disorder. Affiliated tissues include eye, spinal cord and thyroid.

Genetics Home Reference:22 Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss. Although this condition usually begins in a person's teens or twenties, rare cases may appear in early childhood or later in adulthood. For unknown reasons, males are affected much more often than females.

NIH Rare Diseases:42 Leber hereditary optic neuropathy (lhon) is an inherited form of vision loss. although this condition usually begins in a person's teens or twenties, rare cases may appear in early childhood or later in adulthood. for unknown reasons, males are affected much more often than females. this condition is caused by mutations in the mt-nd1, mt-nd4, mt-nd4l, and mt-nd6 genes. last updated: 12/2/2011

Description from OMIM:46 308905

GeneReviews summary for lhon

Aliases & Classifications for Leber Hereditary Optic Neuropathy

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Leber Hereditary Optic Neuropathy, Aliases & Descriptions:

Name: Leber Hereditary Optic Neuropathy 9 20 42 22 11 48 46
Leber's Hereditary Optic Neuropathy 9 21 22 61
Leber Optic Atrophy 42 22 46 48
Lhon 20 42 22 48
Hereditary Optic Neuroretinopathy 20 22 61
Leber's Optic Atrophy 9 20 22
Optic Atrophy, Leber Type 42 23
Leber's Optic Neuropathy 20 22
 
Leber's Disease 20 61
Leber Optic Atrophy, Susceptibility to 10
Lebers Hereditary Optic Neuropathy 44
Optic Atrophy, Hereditary, Leber 61
Leber Hereditary Optic Atrophy 22
Disorder of the Optic Nerve 61
Optic Atrophy, Leber's 9
Leber’s Disease 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
leber hereditary optic neuropathy:
Inheritance: Mitochondrial inheritance; Prevalence: 1-9/100000; Age of onset: Adolescence / Young adulthood; Age of death: Normal


External Ids:

Disease Ontology9 DOID:705
NCIt39 C84808
MeSH34 D029242
ICD10 via Orphanet27 H47.2
ICD1026 H47.0

Related Diseases for Leber Hereditary Optic Neuropathy

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Diseases related to Leber Hereditary Optic Neuropathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1leber hereditary optic neuropathy with dystonia31.6MT-ND4, MT-ND6
2mitochondrial complex i deficiency31.1MT-ND6, MT-ND3, MT-ND5, NDUFA1
3melas syndrome30.7MT-ND5, MT-ND6, MT-ND1, MT-ND4
4neuropathy11.5
5dystonia10.7
6retinitis10.7
7neuromyelitis optica10.6
8leukemia10.5
9multiple sclerosis10.5
10optic atrophy10.5
11spasticity10.5
12alzheimer disease mitochondrial10.4MT-ND1, MT-ND2
13acute lymphoblastic leukemia10.3
14adrenoleukodystrophy10.3
15retinitis pigmentosa10.3
16wernicke encephalopathy10.3
17central sleep apnea10.3
18dementia10.3
19demyelinating polyneuropathy10.3
20lymphoblastic leukemia10.3
21migraine10.3
22polyneuropathy10.3
23sleep apnea10.3
24spinocerebellar ataxia10.3
25thyroiditis10.3
26turner syndrome10.3
27optic atrophy type 110.3
28chorea and dementia10.3
29ataxia10.3
30chorea10.3
31myoclonus10.3
32optic nerve hypoplasia10.3
33lactic acidosis10.3MT-ND5
34optic nerve disease10.3MT-ND4, MT-ND6, NDUFA1
35sparganosis10.3MT-ND3, MT-CO1
36leigh disease10.2MT-ND5, MT-ATP6, MT-ND3
37early myoclonic encephalopathy10.2NDUFS4, MT-ND5
38charcot-marie-tooth disease10.2
39tooth disease10.2
40marsden nyhan sakati syndrome10.2
41mitochondrial disorders10.2MT-ATP6, MT-CO3, MT-CO1
42neuritis10.2
43optic neuritis10.2
44noonan syndrome10.1MT-ATP6, MT-CYB, MT-ND1
45leber congenital amaurosis10.1
46spastic paraparesis10.1
47alzheimer's disease10.0CS, NEFH
48parkinson's disease10.0MT-ND1, MT-CYB, MT-ND5, NDUFS4
49rhyns syndrome10.0MT-ND4, MT-ATP6, RP2
50hypertension10.0

Graphical network of the top 20 diseases related to Leber Hereditary Optic Neuropathy:



Diseases related to leber hereditary optic neuropathy

Symptoms for Leber Hereditary Optic Neuropathy

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Symptoms by clinical synopsis from OMIM:

535000

Clinical features from OMIM:

535000,308905

HPO human phenotypes related to Leber Hereditary Optic Neuropathy:

(show all 17)
id Description Frequency HPO Source Accession
1 optic neuropathy frequent (33%) HP:0001138
2 optic atrophy HP:0000648
3 x-linked inheritance HP:0001417
4 visual loss HP:0000572
5 centrocecal scotoma HP:0000576
6 optic atrophy HP:0000648
7 leber optic atrophy HP:0001112
8 ataxia HP:0001251
9 polyneuropathy HP:0001271
10 dystonia HP:0001332
11 heterogeneous HP:0001425
12 mitochondrial inheritance HP:0001427
13 postural tremor HP:0002174
14 myopathy HP:0003198
15 incomplete penetrance HP:0003829
16 central retinal vessel vascular tortuosity HP:0007768
17 arrhythmia HP:0011675

Drugs & Therapeutics for Leber Hereditary Optic Neuropathy

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Drug clinical trials:

Search ClinicalTrials for Leber Hereditary Optic Neuropathy

Search NIH Clinical Center for Leber Hereditary Optic Neuropathy

Genetic Tests for Leber Hereditary Optic Neuropathy

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Genetic tests related to Leber Hereditary Optic Neuropathy:

id Genetic test Affiliating Genes
1 Leber Hereditary Optic Neuropathy21 MT-ND6
2 Leber's Optic Atrophy23

Anatomical Context for Leber Hereditary Optic Neuropathy

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MalaCards organs/tissues related to Leber Hereditary Optic Neuropathy:

32
Eye, Spinal cord, Thyroid, Testes

Animal Models for Leber Hereditary Optic Neuropathy or affiliated genes

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Publications for Leber Hereditary Optic Neuropathy

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Articles related to Leber Hereditary Optic Neuropathy:

(show top 50)    (show all 217)
idTitleAuthorsYear
1
New MT-ND1 pathologic mutation for Leber hereditary optic neuropathy. (24800637)
2014
2
Leber hereditary optic neuropathy in the population of Serbia. (24508359)
2014
3
Intravitreal delivery of AAV-NDI1 provides functional benefit in a murine model of Leber hereditary optic neuropathy. (22669418)
2013
4
Are we there yet? Is neuro-ophthalmology at the cusp of a paradigm shift? Lessons from leber hereditary optic neuropathy. (23681244)
2013
5
Late-onset Leber hereditary optic neuropathy. (23433437)
2013
6
Effects of idebenone on color vision in patients with leber hereditary optic neuropathy. (23263355)
2013
7
Raised intraocular pressure as a potential risk factor for visual loss in Leber Hereditary Optic Neuropathy. (23667621)
2013
8
Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans. (22517755)
2012
9
Neuromyelitis optica antibody in Leber hereditary optic neuropathy: case report. (23258662)
2012
10
Meta-analysis of the prevalence of Leber hereditary optic neuropathy mtDNA mutations in Europe. (21928272)
2012
11
Mutations for Leber hereditary optic neuropathy in patients with alcohol and tobacco optic neuropathy. (22194643)
2011
12
Leber hereditary optic neuropathy mimicking neuromyelitis optica. (21734595)
2011
13
Mitochondrial haplogroup background may influence Southeast Asian G11778A Leber hereditary optic neuropathy. (21398275)
2011
14
Leber hereditary optic neuropathy: some new observations. (21317730)
2011
15
Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy. (21203403)
2010
16
Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of Leber hereditary optic neuropathy. (20460595)
2010
17
Molecular characterization of six Chinese families with m.3460G>A and Leber hereditary optic neuropathy. (20232220)
2010
18
Selective wavelength pupillometry in Leber hereditary optic neuropathy. (20447133)
2010
19
Evaluation of the X-linked modifier loci for Leber hereditary optic neuropathy with the G11778A mutation in Chinese. (20300564)
2010
20
Another case of leber hereditary optic neuropathy in an octogenarian. (19491649)
2009
21
Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy. (18363168)
2008
22
Protection against oxidant-induced apoptosis by exogenous glutathione in Leber hereditary optic neuropathy cybrids. (18235013)
2008
23
Leber hereditary optic neuropathy mutations in the ND6 subunit of mitochondrial complex I affect ubiquinone reduction kinetics in a bacterial model of the enzyme. (17894548)
2008
24
A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia. (17562939)
2007
25
Progression of visual field defects in leber hereditary optic neuropathy: experience of the LHON treatment trial. (16765674)
2006
26
Demyelinating polyneuropathy in Leber hereditary optic neuropathy. (16690316)
2006
27
The unique characteristics of Thai Leber hereditary optic neuropathy: analysis of 30 G11778A pedigrees. (16477364)
2006
28
Proportion of 11778 mutant mitochondrial DNA and clinical expression in a thai population with leber hereditary optic neuropathy. (16148621)
2005
29
Leber hereditary optic neuropathy--a disease with a known molecular basis but a mysterious mechanism of pathology. (14617834)
2003
30
Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy. (12736867)
2003
31
Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy. (12888043)
2003
32
The epidemiology of Leber hereditary optic neuropathy in the North East of England. (12518276)
2003
33
Migraine-like disorder segregating with mtDNA 14484 Leber hereditary optic neuropathy mutation. (12601121)
2003
34
Leber hereditary optic neuropathy: a nuclear solution of a mitochondrial problem. (12402246)
2002
35
Optic nerve enhancement in leber hereditary optic neuropathy: four years later. (11937919)
2002
36
Leber hereditary optic neuropathy, progressive visual loss, and multiple-sclerosis-like symptoms. (11589893)
2001
37
The Leber hereditary optic neuropathy 14,484 mutation and X-linked adrenoleukodystrophy: a possible modifier of phenotypic expression? (10472539)
1999
38
Detection of mitochondrial DNA nucleotide 11778 point mutation of Leber hereditary optic neuropathy from archival stained histopathological preparations. (9541429)
1998
39
Leber hereditary optic neuropathy: respiratory chain dysfunction and degeneration of the optic nerve. (9667014)
1998
40
Neuromyelitis optica (Devic's syndrome): no association with the primary mitochondrial DNA mutations found in Leber hereditary optic neuropathy. (9010406)
1997
41
Disease relevance of the so-called secondary Leber hereditary optic neuropathy mutations. (9199577)
1997
42
Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy. (9143920)
1997
43
Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. (9012411)
1997
44
Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy. (7821467)
1994
45
Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON). (8213820)
1993
46
Finger prick blood testing in Leber hereditary optic neuropathy. (8318469)
1993
47
Leber hereditary optic neuropathy in Australia. (1449769)
1992
48
A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. (1463007)
1992
49
Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy. (1415219)
1992
50
Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation. (2018041)
1991

Variations for Leber Hereditary Optic Neuropathy

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Clinvar genetic disease variations for Leber Hereditary Optic Neuropathy:

7 (show all 43)
id Gene Name Type Significance SNP ID Assembly Location
1MT-ND5m.12338T> Csingle nucleotide variantPathogenicrs201863060GRCh37Chr MT, 12338: 12338
2m.10237T> Csingle nucleotide variantPathogenicrs397515504GRCh37Chr MT, 10237: 10237
3MT-ND4m.11253T> Csingle nucleotide variantPathogenicrs200145866GRCh37Chr MT, 11253: 11253
4MT-ND5m.12811T> Csingle nucleotide variantPathogenicrs199974018GRCh37Chr MT, 12811: 12811
5MT-ND5m.13637A> Gsingle nucleotide variantPathogenicrs200855215GRCh37Chr MT, 13637: 13637
6MT-ND6m.14325T> Csingle nucleotide variantPathogenicrs397515505GRCh37Chr MT, 14325: 14325
7MT-ND6m.14482C> Gsingle nucleotide variantPathogenicrs199476108GRCh37Chr MT, 14482: 14482
8MT-ND6m.14498C> Tsingle nucleotide variantPathogenicGRCh37Chr MT, 14498: 14498
9MT-ND6m.14568C> Tsingle nucleotide variantPathogenicrs397515506GRCh37Chr MT, 14568: 14568
10MT-TEm.14729G> Asingle nucleotide variantPathogenicGRCh38Chr MT, 14729: 14729
11MT-CYBm.14831G> Asingle nucleotide variantPathogenicrs199795644GRCh37Chr MT, 14831: 14831
12MT-ND1m.3635G> Asingle nucleotide variantPathogenicrs397515507GRCh37Chr MT, 3635: 3635
13MT-ND1m.3700G> Asingle nucleotide variantPathogenicrs397515508GRCh37Chr MT, 3700: 3700
14MT-ND1m.4025C> Tsingle nucleotide variantPathogenicrs397515509GRCh37Chr MT, 4025: 4025
15MT-ND1m.3376G> Asingle nucleotide variantPathogenicrs397515612GRCh37Chr MT, 3376: 3376
16MT-ATP6m.9101T> Csingle nucleotide variantPathogenicrs199476134GRCh37Chr MT, 9101: 9101
17MT-CO3m.9438G> Asingle nucleotide variantPathogenicrs267606611GRCh37Chr MT, 9438: 9438
18MT-CO3m.9804G> Asingle nucleotide variantPathogenicrs200613617GRCh37Chr MT, 9804: 9804
19m.7444G> Asingle nucleotide variantPathogenicrs199474822GRCh37Chr MT, 7444: 7444
20MT-CYBm.15257G> Asingle nucleotide variantPathogenicrs41518645GRCh37Chr MT, 15257: 15257
21MT-CYBm.15812G> Asingle nucleotide variantPathogenicrs200336777GRCh37Chr MT, 15812: 15812
22MT-ND6m.14484T> Csingle nucleotide variantPathogenicrs199476104GRCh37Chr MT, 14484: 14484
23MT-ND6m.14459G> Asingle nucleotide variantPathogenicrs199476105GRCh37Chr MT, 14459: 14459
24MT-ND6m.14596A> Tsingle nucleotide variantPathogenicrs387906424GRCh37Chr MT, 14596: 14596
25MT-ND6m.14495A> Gsingle nucleotide variantPathogenicrs199476106GRCh37Chr MT, 14495: 14495
26MT-ND6m.14482C> Asingle nucleotide variantPathogenicrs199476108GRCh37Chr MT, 14482: 14482
27MT-ND5m.13708G> Asingle nucleotide variantPathogenicrs28359178GRCh37Chr MT, 13708: 13708
28MT-ND5m.13730G> Asingle nucleotide variantPathogenicrs387906425GRCh37Chr MT, 13730: 13730
29MT-ND5m.13045A> Csingle nucleotide variantPathogenicrs267606895GRCh37Chr MT, 13045: 13045
30MT-ND5m.12848C> Tsingle nucleotide variantPathogenicrs267606899GRCh37Chr MT, 12848: 12848
31MT-ND4Lm.10663T> Csingle nucleotide variantPathogenicrs199476114GRCh37Chr MT, 10663: 10663
32MT-ND4m.11778G> Asingle nucleotide variantPathogenicrs199476112GRCh37Chr MT, 11778: 11778
33MT-ND4m.11696G> Asingle nucleotide variantPathogenicrs200873900GRCh37Chr MT, 11696: 11696
34MT-ND2m.4917A> Gsingle nucleotide variantrisk factorrs28357980GRCh37Chr MT, 4917: 4917
35MT-ND2m.5244G> Asingle nucleotide variantPathogenicrs199476115GRCh37Chr MT, 5244: 5244
36MT-ND2m.4640C> Asingle nucleotide variantPathogenicrs387906426GRCh37Chr MT, 4640: 4640
37MT-ND1m.3460G> Asingle nucleotide variantPathogenicrs199476118GRCh37Chr MT, 3460: 3460
38MT-ND1m.4160T> Csingle nucleotide variantPathogenicrs199476119GRCh37Chr MT, 4160: 4160
39MT-ND1m.3394T> Csingle nucleotide variantPathogenicrs41460449GRCh37Chr MT, 3394: 3394
40MT-ND1m.4136A> Gsingle nucleotide variantPathogenicrs199476121GRCh37Chr MT, 4136: 4136
41MT-ND1m.4171C> Asingle nucleotide variantPathogenicrs28616230GRCh37Chr MT, 4171: 4171
42MT-ND1m.3697G> Asingle nucleotide variantPathogenicrs199476122GRCh37Chr MT, 3697: 3697
43MT-ND1m.3733G> Asingle nucleotide variantPathogenicrs199476125GRCh37Chr MT, 3733: 3733

Expression for genes affiliated with Leber Hereditary Optic Neuropathy

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Expression patterns in normal tissues for genes affiliated with Leber Hereditary Optic Neuropathy

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Pathways for genes affiliated with Leber Hereditary Optic Neuropathy

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Compounds for genes affiliated with Leber Hereditary Optic Neuropathy

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Sources:
44Novoseek, 12DrugBank, 29IUPHAR, 25HMDB
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Compounds related to Leber Hereditary Optic Neuropathy according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1solium4410.0MT-ATP6, MT-CO1, MT-ND1
2myxothiazol44 1210.9NDUFS4, MT-CYB
3cholic acid44 29 25 1212.8MT-CO1, MT-CO3, MT-CYB
4citrinin449.8NDUFS4, MT-CYB
5oligomycin449.8MT-ATP6, NDUFS4
6ubiquinol449.8CS, MT-CYB
7methionine449.8MT-ND1, MT-ND6, MT-ND2, MT-ND5
8antimycin a449.7NDUFS4, MT-CYB
9rrna449.5CS, MT-CYB, MT-CO1
10fumarate44 1210.3CS, MT-CYB
11rotenone449.3MT-ND1, MT-ND6, CS, NDUFS4
12ubiquinone449.2MT-ND4, MT-CYB, CS, NDUFS4
13Ubiquinol 8259.2MT-ND4, MT-ND5, MT-ND3, MT-ND2, MT-ND6, MT-ND4L
14nad+449.2MT-ND4, MT-CYB, CS, NDUFS4
15valine449.1MT-ND4, MT-ND1, MT-ND6, MT-ND2, MT-ND5, CS
16glyceraldehyde 3-phosphate449.0NDUFS4, CS, MT-CYB
17citrate449.0MT-CO1, MT-CO3, CS, NDUFS4
18lactate448.9MT-ND4, MT-ND1, CS, NDUFS4
19pyruvate448.9MT-ND4, MT-ND1, MT-ND3, CS, NDUFS4
20Sulfide258.9MT-ND4, MT-ND1, MT-ND4L, MT-ND6, MT-ND2, NDUFS4
21succinate448.9MT-ND4, MT-CO1, MT-CYB, CS, NDUFS4
22QH2258.9MT-ND4, MT-ND1, MT-ND4L, MT-ND6, MT-ND2, NDUFS4
23Ubiquinone Q2258.9MT-ND4, MT-ND1, MT-ND4L, MT-ND6, MT-ND2, NDUFS4
24FAD258.9MT-ND4, MT-ND1, MT-ND4L, MT-ND6, MT-ND2, NDUFS4
25threonine448.8MT-ND4, MT-ND1, MT-CYB, MT-ND2, MT-ND3, MT-ND5
26hydrogen44 259.7MT-CO1, MT-CYB, MT-ATP6, CS, NDUFS4
27alanine448.6MT-ND1, MT-ND6, MT-CYB, MT-ND2, MT-ND3, MT-ND5
28glucose448.3MT-ND4, MT-ND1, MT-CO1, MT-CO3, MT-CYB, CS
29oxygen44 259.3MT-CO1, MT-ND6, MT-CYB, MT-ND2, MT-ATP6, CS
30Ubiquinone Q1258.3MT-ND5, MT-ND3, MT-ND2, MT-ND6, MT-ND4L, MT-ND1
31nad29 259.3NDUFS4, MT-ND5, MT-ND3, MT-ND2, MT-ND6, MT-ND4L
32superoxide44 259.1NEFH, MT-CYB, CS, NDUFS4
33atp44 298.9MT-ND4, MT-ND1, MT-CO1, MT-CO3, MT-CYB, MT-ATP6
34iron44 258.6MT-ND4, MT-ND1, NDUFA1, NDUFS4, CS, MT-ND2
35serine447.5NEFH, MT-ND1, MT-ND6, MT-CYB, MT-ND3, MT-ND5
36nadh44 25 128.5NDUFA1, NDUFS4, CS, MT-ND5, MT-ATP6, MT-ND3

GO Terms for genes affiliated with Leber Hereditary Optic Neuropathy

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Cellular components related to Leber Hereditary Optic Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex IGO:0057479.5NDUFA1, NDUFS4

Biological processes related to Leber Hereditary Optic Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial electron transport, NADH to ubiquinoneGO:0061209.5NDUFA1, NDUFS4
2cellular metabolic processGO:0442378.6NDUFA1, NDUFS4, CS

Molecular functions related to Leber Hereditary Optic Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1NADH dehydrogenase (ubiquinone) activityGO:0081379.5NDUFA1, NDUFS4

Products for genes affiliated with Leber Hereditary Optic Neuropathy

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Sources for Leber Hereditary Optic Neuropathy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet