LHON
MCID: LBR002
MIFTS: 59

Leber Hereditary Optic Neuropathy (LHON) malady

Eye, Metabolic, Neuronal categories

Summaries for Leber Hereditary Optic Neuropathy

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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

MalaCards: Leber Hereditary Optic Neuropathy, also known as leber optic atrophy, is related to leber hereditary optic neuropathy with dystonia and blindness. 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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The compounds solium and N-Formylmethionine have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and whole blood.

Genetics Home Reference:21 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.

Description from OMIM:47 535000,308905

GeneReviews summary for lhon

Aliases & Classifications for Leber Hereditary Optic Neuropathy

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 40NCIt, 57SNOMED-CT, 35MeSH, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye, Metabolic, Neuronal


Characteristics (Orphanet epidemiological data):

49
leber hereditary optic neuropathy:
Inheritance: Mitochondrial inheritance; Prevalence: 1-9/100000; Age of onset: Adolescence / Young adulthood; Age of death: Normal


Aliases & Descriptions:

leber hereditary optic neuropathy 8 19 43 21 10 49 47
leber optic atrophy 43 21 47 49
lhon 19 43 21 49
leber's hereditary optic neuropathy 8 20 21
leber's optic atrophy 8 19 21
hereditary optic neuroretinopathy 19 21
optic atrophy, leber type 43 22
leber's optic neuropathy 19 21
leber optic atrophy, susceptibility to 9
lebers hereditary optic neuropathy 45
optic atrophy, hereditary, leber 61
leber hereditary optic atrophy 21
disorder of the optic nerve 61
leber congenital amaurosis 61
optic atrophy, leber's 8
leber’s disease 43
leber's disease 19


External Ids:

Disease Ontology8 DOID:705
NCIt40 C84808
MeSH35 D029242
ICD10 via Orphanet26 H47.2

Related Diseases for Leber Hereditary Optic Neuropathy

Sources:
17GeneCards, 18GeneDecks
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Diseases in the Leber Hereditary Optic Neuropathy family:

leber hereditary optic neuropathy with dystonia

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

(show top 50)    (show all 110)
idRelated DiseaseScoreTop Affiliating Genes
1leber hereditary optic neuropathy with dystonia30.9MT-ND6, MT-ND4
2blindness30.7OPA1, MT-ND4, MYOC
3mitochondrial complex i deficiency30.6NDUFA1, MT-ND6, MT-ND5, MT-ND3
4melas syndrome29.9MT-ND6, MT-ND1, MT-ND4, MT-ND5
5leber congenital amaurosis11.4
6leber congenital amaurosis 110.7
7leber congenital amaurosis 210.7
8n syndrome10.7
9leber congenital amaurosis 310.7
10leber congenital amaurosis 410.7
11leber congenital amaurosis 610.7
12leber congenital amaurosis 1110.7
13leber congenital amaurosis 910.7
14leber congenital amaurosis 1510.7
15leber congenital amaurosis 1010.6
16leber congenital amaurosis 1210.6
17leber congenital amaurosis 510.6
18leber congenital amaurosis 710.6
19leber congenital amaurosis 810.6
20gucy2d-related leber congenital amaurosis10.6
21leber congenital amaurosis 1710.6
22retinitis pigmentosa autosomal recessive10.6
23neuromyelitis optica10.5
24leber congenital amaurosis 1610.5
25retinal dystrophy, early-onset, severe10.5
26rpe65-related leber congenital amaurosis10.5
27aipl1-related leber congenital amaurosis10.5
28nmnat1-related leber congenital amaurosis10.5
29cep290-related leber congenital amaurosis10.5
30toxic optic neuropathy10.4
31dystonia 110.4
32cone dystrophy10.4
33rdh12-related leber congenital amaurosis10.4
34lca5-related leber congenital amaurosis10.4
35rpgrip1-related leber congenital amaurosis10.4
36crb1-related leber congenital amaurosis10.4
37crx-related leber congenital amaurosis10.4
38impdh1-related leber congenital amaurosis10.4
39rd3-related leber congenital amaurosis10.4
40spata7-related leber congenital amaurosis10.4
41tulp1-related leber congenital amaurosis10.4
42lrat-related leber congenital amaurosis10.4
43iqcb1-related leber congenital amaurosis10.4
44retinitis pigmentosa, juvenile10.4
45axonal neuropathy10.3
46retinitis pigmentosa10.3
47adrenoleukodystrophy10.3
48wernicke encephalopathy10.3
49central sleep apnea10.3
50wolfram syndrome10.3

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



Diseases related to leber hereditary optic neuropathy

Clinical Features for Leber Hereditary Optic Neuropathy

Sources:
47OMIM
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Clinical features from OMIM:

535000,308905

Clinical synopsis from OMIM:

535000

Drugs & Therapeutics for Leber Hereditary Optic Neuropathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Leber Hereditary Optic Neuropathy

Search CenterWatch for Leber Hereditary Optic Neuropathy

Genetic Tests for Leber Hereditary Optic Neuropathy

Sources:
20GeneTests, 22GTR
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Genetic tests related to Leber Hereditary Optic Neuropathy:

id Genetic test Affiliating Genes
1 Leber Hereditary Optic Neuropathy20 MT-ND6
2 Leber's Optic Atrophy22

Anatomical Context for Leber Hereditary Optic Neuropathy

Sources:
33MalaCards
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MalaCards organs/tissues related to Leber Hereditary Optic Neuropathy:

33
Spinal cord, Brain, Whole blood, Thyroid, B lymphoblasts, B cells

Animal Models for Leber Hereditary Optic Neuropathy or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Leber Hereditary Optic Neuropathy

Sources:
51PubMed
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Articles related to Leber Hereditary Optic Neuropathy:

(show top 50)    (show all 302)
idTitleAuthorsYear
1
Characterization of retinal nerve fiber layer thickness changes associated with Leber's hereditary optic neuropathy by optical coherence tomography. (24396430)
2014
2
Comparing EPI-743 treatment in siblings with Leber's hereditary optic neuropathy mt14484 mutation. (24093206)
2013
3
Late-onset Leber hereditary optic neuropathy. (23433437)
2013
4
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy. (24369379)
2013
5
Evaluation of fixation pattern and reading ability in patients with Leber hereditary optic neuropathy. (24256876)
2013
6
Retinal function and neural conduction along the visual pathways in affected and unaffected carriers with Leber's hereditary optic neuropathy. (24071953)
2013
7
A case of Leber hereditary optic neuropathy plus dystonia caused by G14459A mitochondrial mutation. (22426787)
2013
8
Clinical and electrophysiological recovery in Leber hereditary optic neuropathy with G3460A mutation. (22684678)
2012
9
Leber hereditary optic neuropathy mimicking neuromyelitis optica. (21734595)
2011
10
Axonal degeneration in peripheral nerves in a case of Leber hereditary optic neuropathy. (21139512)
2011
11
Leber hereditary optic neuropathy gene therapy clinical trial recruitment: year 1. (20837795)
2010
12
Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation. (19167085)
2009
13
Another case of leber hereditary optic neuropathy in an octogenarian. (19491649)
2009
14
Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia. (19458970)
2009
15
Leber hereditary optic neuropathy associated with malabsorption syndrome after bariatric surgery. (19458584)
2009
16
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
17
Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus. (18216301)
2008
18
Phosphorylated neurofilament heavy chain is a marker of neurodegeneration in Leber hereditary optic neuropathy (LHON). (19104679)
2008
19
Investigation of auditory dysfunction in Leber hereditary optic neuropathy. (18070226)
2008
20
Differential cerebro spinal fluid proteome investigation of Leber hereditary optic neuropathy (LHON) and multiple sclerosis. (18061280)
2008
21
A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia. (17562939)
2007
22
Mechanisms of retinal ganglion specific-cell death in Leber hereditary optic neuropathy. (18427623)
2007
23
Use of mitochondrial antioxidant defenses for rescue of cells with a Leber hereditary optic neuropathy-causing mutation. (17296905)
2007
24
The unique characteristics of Thai Leber hereditary optic neuropathy: analysis of 30 G11778A pedigrees. (16477364)
2006
25
Subclinical carriers and conversions in Leber hereditary optic neuropathy: a prospective psychophysical study. (17471325)
2006
26
Influence of mutation type on clinical expression of Leber hereditary optic neuropathy. (16564802)
2006
27
Leber hereditary optic neuropathy possibly triggered by exposure to tire fire. (17204920)
2006
28
Caspase-independent death of Leber's hereditary optic neuropathy cybrids is driven by energetic failure and mediated by AIF and Endonuclease G. (16151635)
2005
29
Leber's hereditary optic neuropathy with molecular characterization in two Indian families. (16137960)
2005
30
Severe impairment of complex I-driven adenosine triphosphate synthesis in leber hereditary optic neuropathy cybrids. (15883259)
2005
31
Chromatic and luminance contrast sensitivities in asymptomatic carriers from a large Brazilian pedigree of 11778 Leber hereditary optic neuropathy. (16303983)
2005
32
Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation. (14735584)
2004
33
Leber hereditary optic neuropathy--a disease with a known molecular basis but a mysterious mechanism of pathology. (14617834)
2003
34
Asian-specific mtDNA backgrounds associated with the primary G11778A mutation of Leber's hereditary optic neuropathy. (12436196)
2002
35
Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations. (12150954)
2002
36
Confirmation of the 14568 mutation in the mitochondrial ND6 gene as causative in Leber's hereditary optic neuropathy. (12324878)
2002
37
mtDNA analysis of Leber hereditary optic neuropathy associated with spondyloepiphyseal dysplasia. (11343307)
2001
38
Do idebenone and vitamin therapy shorten the time to achieve visual recovery in Leber hereditary optic neuropathy? (11001192)
2000
39
Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. (10426140)
1999
40
Detection of mitochondrial DNA nucleotide 11778 point mutation of Leber hereditary optic neuropathy from archival stained histopathological preparations. (9541429)
1998
41
Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy. (9143920)
1997
42
Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes. (9027481)
1997
43
Carbon monoxide poisoning as an epigenetic factor for Leber's hereditary optic neuropathy. (9055542)
1996
44
Leber's hereditary optic neuropathy (LHON)-related mitochondrial DNA sequence changes in italian patients presenting with sporadic bilateral optic neuritis. (8593537)
1995
45
Molecular genetic analysis of Leber's hereditary optic neuropathy with the 3460 mutation in Japanese pedigrees]. (7611010)
1995
46
Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations. (8680405)
1995
47
Simultaneous occurrence of the 11778 (ND4) and the 9438 (COX III) mtDNA mutations in Leber hereditary optic neuropathy: molecular, biochemical, and clinical findings. (7573056)
1995
48
Intrafamilial variation in Leber hereditary optic neuropathy revealed by direct mutation analysis. (8448903)
1993
49
An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. (1417830)
1992
50
Neuro-ophthalmologic manifestations of mitochondrial DNA disorders: chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, and Leber's hereditary optic neuropathy. (2011107)
1991

Genetic Variations for Leber Hereditary Optic Neuropathy

Expression for genes affiliated with Leber Hereditary Optic Neuropathy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Leber Hereditary Optic Neuropathy

Search GEO for disease gene expression data for Leber Hereditary Optic Neuropathy.

Pathways for genes affiliated with Leber Hereditary Optic Neuropathy

Sources:
30KEGG, 54Reactome, 38NCBI BioSystems Database
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Compounds for genes affiliated with Leber Hereditary Optic Neuropathy

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 24HMDB
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Compounds related to Leber Hereditary Optic Neuropathy according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1solium4510.6MT-ND1, MT-CO1, MT-ATP6
2N-Formylmethionine1110.6MT-CO1, MT-CO3, MT-ND1
3ubiquinone4510.6MT-CYB, MT-ND4, NDUFS4, NDUFA5
4myxothiazol45 1111.6MT-CYB, NDUFS4
5rotenone4510.6NDUFS4, NDUFA5, MT-ND6, MT-ND1
6succinate4510.6NDUFS4, MT-ND4, MT-CO1, MT-CYB
7cholic acid45 29 11 2413.6MT-CO1, MT-CO3, MT-CYB
8valine4510.5MT-ND5, MT-ND4, MT-ND1, MT-ND6, MT-ND2
9citrinin4510.5MT-CYB, NDUFS4
10semiquinone4510.5MT-CYB, NDUFA5
11glucose4510.5NDUFS4
12pyruvate4510.5MT-ND4, MT-ND1, NDUFS4, MT-ND3
13methionine4510.4MT-ND5, MT-ND6, MT-ND1, MT-ND2
14threonine4510.4MT-ND2, NDUFS4, MT-ND1, MT-ND4, MT-CYB, MT-ND3
15alanine4510.3MT-ND2, MT-CYB, MT-ND1, MT-ND6, MYOC, MT-ND5
16oxygen45 2411.3MT-CYB, MT-ATP6, MT-ND2, MT-CO1, MT-ND6, EPHX1
17nad+4510.3NDUFS4, MT-ND4, MT-CYB
18citrate4510.3MT-CO3, MT-CO1, NDUFS4
19oligomycin4510.3MT-ATP6, NDUFS4
20atp45 2911.2NDUFS4, MT-ND4, NDUFA5, OPA1, MT-CO1, MT-CO3
21iron45 2411.2MT-ND2, MT-ND4L, MT-CO1, MT-CYB, MT-ND4, MT-ND1
22nad29 2411.2NDUFB11, NDUFS4, MT-ND3, MT-ND2, MT-ND4L, MT-ND5
23antimycin a4510.1MT-CYB, NDUFS4
24nadh45 11 2411.9NDUFB11, MT-ND1, MT-CO1, MT-ND2, NDUFS4, NDUFA1

GO Terms for genes affiliated with Leber Hereditary Optic Neuropathy

Sources:
16Gene Ontology
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Cellular components related to Leber Hereditary Optic Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:00574310.1OPA1, NDUFA5, NDUFA1, NDUFS4, NDUFB11
2mitochondrial respiratory chain complex IGO:0057479.9NDUFA5, NDUFA1, NDUFS4, NDUFB11

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial electron transport, NADH to ubiquinoneGO:00612010.3NDUFS4, NDUFA1, NDUFA5
2respiratory electron transport chainGO:02290410.1NDUFS4, NDUFA5, NDUFA1, NDUFB11
3cellular metabolic processGO:0442379.9NDUFS4, NDUFA1, NDUFA5, NDUFB11

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

idNameGO IDScoreTop Affiliating Genes
1NADH dehydrogenase (ubiquinone) activityGO:00813710.3NDUFA5, NDUFA1, NDUFS4

Products for genes affiliated with Leber Hereditary Optic Neuropathy

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Sources for Leber Hereditary Optic Neuropathy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet