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
RETINAL GANGLION CELL DYSFUNCTION IN ASYMPTOMATIC G11778A LEBER HEREDITARY OPTIC NEUROPATHY. (24398093)
2014
2
Effects of idebenone on color vision in patients with leber hereditary optic neuropathy. (23263355)
2013
3
Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations. (24198293)
2013
4
Clinical and electrophysiological recovery in Leber hereditary optic neuropathy with G3460A mutation. (22684678)
2012
5
Mouse mtDNA mutant model of Leber hereditary optic neuropathy. (23129651)
2012
6
Complete mitochondrial DNA genome sequence variation of Chinese families with mutation m.3635G>A and Leber hereditary optic neuropathy. (23304069)
2012
7
Mitochondrial haplogroup background may influence Southeast Asian G11778A Leber hereditary optic neuropathy. (21398275)
2011
8
Magnetic resonance findings in the pregeniculate visual pathways in Leber hereditary optic neuropathy. (21593634)
2011
9
Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy. (21203403)
2010
10
Selective wavelength pupillometry in Leber hereditary optic neuropathy. (20447133)
2010
11
Leber hereditary optic neuropathy: do folate pathway gene alterations influence the expression of mitochondrial DNA mutation? (23113023)
2010
12
Initial temporal field defect in Leber hereditary optic neuropathy. (20020239)
2009
13
Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy. (18363168)
2008
14
Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus. (18216301)
2008
15
Leber hereditary optic neuropathy presenting in a 75-year-old man. (18562849)
2008
16
Phosphorylated neurofilament heavy chain is a marker of neurodegeneration in Leber hereditary optic neuropathy (LHON). (19104679)
2008
17
Investigation of auditory dysfunction in Leber hereditary optic neuropathy. (18070226)
2008
18
Antioxidants partially restore glutamate transport defect in leber hereditary optic neuropathy cybrids. (18615737)
2008
19
Mechanisms of retinal ganglion specific-cell death in Leber hereditary optic neuropathy. (18427623)
2007
20
Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy? (17366829)
2007
21
Acute leber hereditary optic neuropathy in a 73-year-old man. (17277749)
2007
22
The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy. (17292333)
2007
23
Progression of visual field defects in leber hereditary optic neuropathy: experience of the LHON treatment trial. (16765674)
2006
24
Subclinical carriers and conversions in Leber hereditary optic neuropathy: a prospective psychophysical study. (17471325)
2006
25
Influence of mutation type on clinical expression of Leber hereditary optic neuropathy. (16564802)
2006
26
Proportion of 11778 mutant mitochondrial DNA and clinical expression in a thai population with leber hereditary optic neuropathy. (16148621)
2005
27
Prophylaxis for second eye involvement in leber hereditary optic neuropathy: an open-labeled, nonrandomized multicenter trial of topical brimonidine purite. (16083844)
2005
28
Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy. (14962416)
2004
29
Recurrent visual loss in Leber hereditary optic neuropathy. (12583806)
2003
30
Leber hereditary optic neuropathy: a nuclear solution of a mitochondrial problem. (12402246)
2002
31
Rapid visual recovery after coenzyme q10 treatment of leber hereditary optic neuropathy. (11937918)
2002
32
Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations. (11754070)
2001
33
A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy. (11124301)
2000
34
Leber hereditary optic neuropathy (LHON): a mitochondrial disease with unresolved complexities. (10545708)
1999
35
Detection of mitochondrial DNA nucleotide 11778 point mutation of Leber hereditary optic neuropathy from archival stained histopathological preparations. (9541429)
1998
36
Low-penetrance branches in matrilineal pedigrees with Leber hereditary optic neuropathy. (9867707)
1998
37
Neuromyelitis optica (Devic's syndrome): no association with the primary mitochondrial DNA mutations found in Leber hereditary optic neuropathy. (9010406)
1997
38
Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve. (9425526)
1997
39
Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. (8755941)
1996
40
Sporadic Leber hereditary optic neuropathy in Australia and New Zealand. (8742999)
1996
41
Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia. (8622678)
1996
42
Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. (8644732)
1996
43
Leber hereditary optic neuropathy. Electron microscopy and molecular genetic analysis of a case. (9097799)
1995
44
The mitochondrial DNA mutation ND6*14,484C associated with leber hereditary optic neuropathy, leads to deficiency of complex I of the respiratory chain. (7488023)
1995
45
Pathological significance of the mtDNA COX III mutation at nucleotide pair 9438 in Leber hereditary optic neuropathy. (8037217)
1994
46
Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy. (7977345)
1994
47
Finger prick blood testing in Leber hereditary optic neuropathy. (8318469)
1993
48
Intrafamilial variation in Leber hereditary optic neuropathy revealed by direct mutation analysis. (8448903)
1993
49
Leber hereditary optic neuropathy in Australia. (1449769)
1992
50
High frequency of mitochondrial ND4 gene mutation in Japanese pedigrees with Leber hereditary optic neuropathy. (1635296)
1992

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-ND1, MT-CO1, MT-ATP6
2N-Formylmethionine1110.6MT-CO1, MT-CO3, MT-ND1
3ubiquinone4410.6MT-CYB, MT-ND4, NDUFS4, NDUFA5
4myxothiazol44 1111.6MT-CYB, NDUFS4
5rotenone4410.6NDUFS4, NDUFA5, MT-ND6, MT-ND1
6succinate4410.6NDUFS4, MT-ND4, MT-CO1, MT-CYB
7cholic acid44 28 11 2413.6MT-CO1, MT-CO3, MT-CYB
8valine4410.5MT-ND5, MT-ND4, MT-ND1, MT-ND6, MT-ND2
9citrinin4410.5MT-CYB, NDUFS4
10semiquinone4410.5MT-CYB, NDUFA5
11glucose4410.5NDUFS4
12pyruvate4410.5MT-ND4, MT-ND1, NDUFS4, MT-ND3
13methionine4410.4MT-ND5, MT-ND6, MT-ND1, MT-ND2
14threonine4410.4MT-ND2, NDUFS4, MT-ND1, MT-ND4, MT-CYB, MT-ND3
15alanine4410.3MT-ND2, MT-CYB, MT-ND1, MT-ND6, MYOC, MT-ND5
16oxygen44 2411.3MT-CYB, MT-ATP6, MT-ND2, MT-CO1, MT-ND6, EPHX1
17nad+4410.3NDUFS4, MT-ND4, MT-CYB
18citrate4410.3MT-CO3, MT-CO1, NDUFS4
19oligomycin4410.3MT-ATP6, NDUFS4
20atp44 2811.2NDUFS4, MT-ND4, NDUFA5, OPA1, MT-CO1, MT-CO3
21iron44 2411.2MT-ND2, MT-ND4L, MT-CO1, MT-CYB, MT-ND4, MT-ND1
22nad28 2411.2NDUFB11, NDUFS4, MT-ND3, MT-ND2, MT-ND4L, MT-ND5
23antimycin a4410.1MT-CYB, NDUFS4
24nadh44 11 2411.9NDUFB11, MT-ND1, MT-CO1, MT-ND2, NDUFS4, NDUFA1

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