LHON
MCID: LBR002
MIFTS: 63

Leber Hereditary Optic Neuropathy (LHON) malady

Eye diseases, Metabolic diseases, Neuronal diseases categories

Summaries for Leber Hereditary Optic Neuropathy

About this section
Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

MalaCards: Leber Hereditary Optic Neuropathy, also known as leber optic atrophy, is related to leber hereditary optic neuropathy with dystonia and mitochondrial complex i deficiency. 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 eye, spinal cord and thyroid.

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:46 535000,308905

GeneReviews summary for lhon

Aliases & Classifications for Leber Hereditary Optic Neuropathy

About this section
Sources:
60UMLS, 19GeneReviews, 8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 48Orphanet, 46OMIM, 20GeneTests, 9diseasecard, 22GTR, 44Novoseek, 39NCIt, 56SNOMED-CT, 34MeSH, 26ICD10 via Orphanet
See all sources

Classifications:

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


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


Aliases & Descriptions:

leber hereditary optic neuropathy 8 19 42 21 10 48 46
leber optic atrophy 42 21 46 48
lhon 19 42 21 48
leber's hereditary optic neuropathy 8 20 21
leber's optic atrophy 8 19 21
hereditary optic neuroretinopathy 19 21
optic atrophy, leber type 42 22
leber's optic neuropathy 19 21
leber optic atrophy, susceptibility to 9
lebers hereditary optic neuropathy 44
optic atrophy, hereditary, leber 60
leber hereditary optic atrophy 21
disorder of the optic nerve 60
leber congenital amaurosis 60
optic atrophy, leber's 8
leber’s disease 42
leber's disease 19


External Ids:

Disease Ontology8 DOID:705
NCIt39 C84808
MeSH34 D029242
ICD10 via Orphanet26 H47.2

Related Diseases for Leber Hereditary Optic Neuropathy

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 115)
idRelated DiseaseScoreTop Affiliating Genes
1leber hereditary optic neuropathy with dystonia30.8MT-ND6, MT-ND4
2mitochondrial complex i deficiency30.6MT-ND5, MT-ND6, NDUFA1, MT-ND3
3glaucoma30.2MYOC, OPA1
4optic nerve disease30.2MYOC, MT-ND4, OPA1, MT-ND6, NDUFA1
5melas syndrome29.9MT-ND5, MT-ND4, MT-ND1, MT-ND6
6neuropathy11.4
7leber congenital amaurosis11.4
8leber congenital amaurosis 310.7
9leber congenital amaurosis 110.6
10leber congenital amaurosis 410.6
11leber congenital amaurosis 610.6
12retinitis10.6
13retinal degeneration10.6
14leber congenital amaurosis 1110.6
15leber congenital amaurosis 210.6
16leber congenital amaurosis 910.6
17leber congenital amaurosis 1510.6
18leber congenital amaurosis 1010.6
19leber congenital amaurosis 1210.6
20leber congenital amaurosis 510.6
21leber congenital amaurosis 710.6
22leber congenital amaurosis 810.6
23neuromyelitis optica10.5
24optic atrophy10.5
25keratoconus10.5
26leber congenital amaurosis 1610.5
27leber congenital amaurosis 1710.5
28retinal disease10.4
29nmnat1-related leber congenital amaurosis10.4
30kcnj13-related leber congenital amaurosis10.4
31toxic optic neuropathy10.4
32alcoholic neuropathy10.4
33leukemia10.4
34multiple sclerosis10.4
35cone-rod dystrophy10.3
36cone dystrophy10.3
37retinal dystrophy, early-onset, severe10.3
38gucy2d-related leber congenital amaurosis10.3
39rpe65-related leber congenital amaurosis10.3
40rdh12-related leber congenital amaurosis10.3
41aipl1-related leber congenital amaurosis10.3
42lca5-related leber congenital amaurosis10.3
43rpgrip1-related leber congenital amaurosis10.3
44crb1-related leber congenital amaurosis10.3
45crx-related leber congenital amaurosis10.3
46cep290-related leber congenital amaurosis10.3
47impdh1-related leber congenital amaurosis10.3
48rd3-related leber congenital amaurosis10.3
49spata7-related leber congenital amaurosis10.3
50tulp1-related leber congenital amaurosis10.3

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

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

535000,308905

Clinical synopsis from OMIM:

535000

Drugs & Therapeutics for Leber Hereditary Optic Neuropathy

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Leber Hereditary Optic Neuropathy

Drug clinical trials:

Search ClinicalTrials for Leber Hereditary Optic Neuropathy

Search NIH Clinical Center for Leber Hereditary Optic Neuropathy

Search CenterWatch for Leber Hereditary Optic Neuropathy

Genetic Tests for Leber Hereditary Optic Neuropathy

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section
Sources:
32MalaCards
See all sources

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

About this section

Publications for Leber Hereditary Optic Neuropathy

About this section
Sources:
50PubMed
See all sources

Articles related to Leber Hereditary Optic Neuropathy:

(show top 50)    (show all 210)
idTitleAuthorsYear
1
Leber hereditary optic neuropathy mutations and toxic-genetic optic neuropathy - Authors' response. (23438023)
2014
2
Evaluation of fixation pattern and reading ability in patients with Leber hereditary optic neuropathy. (24256876)
2013
3
Leber hereditary optic neuropathy in a boy with fibrous boney dysplasia. (24404670)
2013
4
Teaching neuroimages: chiasmal enlargement and enhancement in Leber hereditary optic neuropathy. (24145886)
2013
5
Point mutations associated with Leber hereditary optic neuropathy in a Latvian population. (24319328)
2013
6
Neuromyelitis optica antibody in Leber hereditary optic neuropathy: case report. (23258662)
2012
7
Optic atrophy differentially diagnosed as spinocerebellar ataxia from Leber hereditary optic neuropathy by gene mutation analysis. (23206485)
2012
8
Mutations for Leber hereditary optic neuropathy in patients with alcohol and tobacco optic neuropathy. (22194643)
2011
9
Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation. (21414825)
2011
10
Molecular characterization of six Chinese families with m.3460G>A and Leber hereditary optic neuropathy. (20232220)
2010
11
Irreversible optic neuropathy in wernicke encephalopathy and leber hereditary optic neuropathy. (20182208)
2010
12
Leber hereditary optic neuropathy gene therapy clinical trial recruitment: year 1. (20837795)
2010
13
Genotype-phenotype correlations in Leber hereditary optic neuropathy. (20211598)
2010
14
Sleep-related periodic respiration with central sleep apnea in Leber Hereditary Optic Neuropathy (LHON). (20022556)
2010
15
Another case of leber hereditary optic neuropathy in an octogenarian. (19491649)
2009
16
Gene-environment interactions in Leber hereditary optic neuropathy. (19525327)
2009
17
Mitochondrial DNA mutation m.3635G>A may be associated with Leber hereditary optic neuropathy in Chinese. (19527690)
2009
18
The genetics of leber hereditary optic neuropathy--prototype of an inherited optic neuropathy with mitochondrial dysfunction. (18214789)
2008
19
A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia. (17562939)
2007
20
Primary spinal cord neurodegeneration in Leber hereditary optic neuropathy. (17620555)
2007
21
Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland. (17406640)
2007
22
The unique characteristics of Thai Leber hereditary optic neuropathy: analysis of 30 G11778A pedigrees. (16477364)
2006
23
Mitochondrial DNA haplogroup distribution in pedigrees of Southeast Asian G11778A Leber hereditary optic neuropathy. (17204919)
2006
24
Pathogenesis of retinal ganglion cell death in Leber hereditary optic neuropathy (LHON): possible involvement of mitochondria, light and glutamate. (16581312)
2006
25
A "Fille du Roy" introduced the T14484C Leber hereditary optic neuropathy mutation in French Canadians. (15954041)
2005
26
Chromatic and luminance contrast sensitivities in asymptomatic carriers from a large Brazilian pedigree of 11778 Leber hereditary optic neuropathy. (16303983)
2005
27
Leber hereditary optic neuropathy with chorea and dementia resembling Huntington disease. (15623735)
2004
28
Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia. (15316971)
2004
29
Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy. (12888043)
2003
30
Optic nerve and chiasmal enhancement in leber hereditary optic neuropathy. (12616096)
2003
31
Leber hereditary optic neuropathy associated with use of ephedra alkaloids. (12470769)
2002
32
Genetic counseling in Leber hereditary optic neuropathy (LHON). (11906302)
2002
33
NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy. (12084895)
2002
34
Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect. (10631164)
2000
35
The Leber hereditary optic neuropathy 14,484 mutation and X-linked adrenoleukodystrophy: a possible modifier of phenotypic expression? (10472539)
1999
36
Relative afferent pupillary defects in patients with Leber hereditary optic neuropathy and unilateral visual loss. (9727524)
1998
37
Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. (9012411)
1997
38
Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. (8600429)
1996
39
Detection of the mtDNA 14484 mutation on an African-specific haplotype: implications about its role in causing Leber hereditary optic neuropathy. (8659531)
1996
40
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
41
Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy. (7821467)
1994
42
Single-cell analysis of intercellular heteroplasmy of mtDNA in Leber hereditary optic neuropathy. (8023848)
1994
43
Misconceptions about Leber hereditary optic neuropathy. (8208192)
1994
44
When does bilateral optic atrophy become Leber hereditary optic neuropathy? (8213825)
1993
45
Cytochrome c oxidase mutations in Leber hereditary optic neuropathy. (8240356)
1993
46
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
47
Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy. (1346348)
1992
48
Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation. (2018041)
1991
49
Cytochrome b mutations in Leber hereditary optic neuropathy. (1764087)
1991
50
An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 gene. (2121024)
1990

Genetic Variations for Leber Hereditary Optic Neuropathy

About this section

Expression for genes affiliated with Leber Hereditary Optic Neuropathy

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
29KEGG, 53Reactome, 37NCBI BioSystems Database
See all sources

Compounds for genes affiliated with Leber Hereditary Optic Neuropathy

About this section
Sources:
44Novoseek, 11DrugBank, 28IUPHAR, 24HMDB
See all sources

Compounds related to Leber Hereditary Optic Neuropathy according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1solium4410.6MT-ATP6, MT-ND1, MT-CO1
2N-Formylmethionine1110.6MT-ND1, MT-CO3, MT-CO1
3ubiquinone4410.6NDUFS4, NDUFA5, MT-ND4, MT-CYB
4myxothiazol44 1111.6MT-CYB, NDUFS4
5rotenone4410.6MT-ND1, MT-ND6, NDUFA5, NDUFS4
6succinate4410.6MT-CO1, MT-CYB, MT-ND4, NDUFS4
7cholic acid44 28 11 2413.6MT-CO1, MT-CO3, MT-CYB
8valine4410.5MT-ND6, MT-ND1, MT-ND4, MT-ND5, MT-ND2
9citrinin4410.5MT-CYB, NDUFS4
10semiquinone4410.5NDUFA5, MT-CYB
11glucose4410.5NDUFS4
12pyruvate4410.5NDUFS4, MT-ND1, MT-ND4, MT-ND3
13methionine4410.4MT-ND2, MT-ND5, MT-ND1, MT-ND6
14threonine4410.4NDUFS4, MT-ND1, MT-ND4, MT-CYB, MT-ND5, MT-ND3
15alanine4410.3MT-ND6, MT-ND1, MT-CYB, MT-ND5, MT-ND3, MT-ND2
16oxygen44 2411.3NDUFS4, MT-ND6, MT-ATP6, MT-CYB, MT-CO1, MT-ND2
17nad+4410.3NDUFS4, MT-ND4, MT-CYB
18citrate4410.3MT-CO1, MT-CO3, NDUFS4
19oligomycin4410.3MT-ATP6, NDUFS4
20atp44 2811.2MT-ATP6, OPA1, NDUFA5, NDUFS4, MT-ND1, MT-ND4
21iron44 2411.2NDUFA5, NDUFA1, NDUFS4, NDUFB11, MT-ND6, MT-ND1
22nad28 2411.2MT-ND2, MT-ND4L, MT-ND3, MT-ND5, MT-ND4, MT-ND1
23antimycin a4410.1MT-CYB, NDUFS4
24nadh44 11 2411.9MT-ND2, NDUFB11, NDUFS4, NDUFA1, MT-CO1, MT-ND4L

GO Terms for genes affiliated with Leber Hereditary Optic Neuropathy

About this section
Sources:
16Gene Ontology
See all sources

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:00612010.3NDUFA5, NDUFA1, NDUFS4
2respiratory electron transport chainGO:02290410.1NDUFA5, NDUFA1, NDUFS4, NDUFB11
3cellular metabolic processGO:0442379.9NDUFB11, NDUFS4, NDUFA1, NDUFA5

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Leber Hereditary Optic Neuropathy

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet