LHON
MCID: LBR002
MIFTS: 59

Leber Hereditary Optic Neuropathy (LHON)

Categories: Eye diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Leber Hereditary Optic Neuropathy

MalaCards integrated aliases for Leber Hereditary Optic Neuropathy:

Name: Leber Hereditary Optic Neuropathy 12 24 53 25 59 75 15 38
Leber's Optic Atrophy 12 24 25 29 6
Lhon 24 53 25 59 75
Leber Optic Atrophy 53 25 59 75
Leber's Hereditary Optic Neuropathy 12 25
Optic Atrophy, Hereditary, Leber 44 73
Leber Hereditary Optic Atrophy 25 37
Leber's Optic Neuropathy 24 25
Lebers Hereditary Optic Neuropathy 55
Hereditary Optic Neuroretinopathy 25
Leber Congenital Amaurosis 73
Optic Atrophy, Leber Type 53
Optic Atrophy Leber Type 75
Leber's Disease 24
Loa 75

Characteristics:

Orphanet epidemiological data:

59
leber hereditary optic neuropathy
Inheritance: Mitochondrial inheritance; Prevalence: 1-9/100000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

GeneReviews:

24
Penetrance Lhon-causing mtdna pathogenic variants are characterized by reduced penetrance. an individual can only develop lhon if a pathogenic mtdna lhon-causing variant is present, but approximately 50% of males and 90% of females who harbor a primary lhon-causing mtdna pathogenic variant do not develop blindness. it must be stressed that penetrance can vary markedly in different branches of the same family and between families harboring the same lhon-causing mtdna pathogenic variants, which complicates genetic counseling at the individual level. additional environmental and genetic factors interact with the primary mtdna pathogenic variant and determine whether an individual ultimately develops optic nerve dysfunction and visual failure. the two most important risk factors for visual loss are sex and age (see table 4) [yu-wai-man et al 2009]...

Classifications:



External Ids:

Disease Ontology 12 DOID:705
ICD10 33 H47.22
MeSH 44 D029242
NCIt 50 C84808
SNOMED-CT 68 58610003
Orphanet 59 ORPHA104
ICD10 via Orphanet 34 H47.2
UMLS via Orphanet 74 C0917796
MedGen 42 C0917796
KEGG 37 H00068

Summaries for Leber Hereditary Optic Neuropathy

NIH Rare Diseases : 53 Leber hereditary optic neuropathy (LHON) is a condition characterized by vision loss. Vision loss is typically the only symptom of LHON. Some families with additional signs and symptoms have been reported and are said to have "LHON plus", a condition which includes vision loss, tremors, and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). Some affected individuals develop features similar to multiple sclerosis. LHON is caused by mutations in the MT-ND1, MT-ND4, MT-ND4L, and MT-ND6 genes. LHON has a mitochondrial pattern of inheritance; however, there are many cases in which there are no other cases of LHON in the family. Treatment is supportive and may include visual aids. There is ongoing research for more effective treatment. 

MalaCards based summary : Leber Hereditary Optic Neuropathy, also known as leber's optic atrophy, is related to leber optic atrophy and dystonia and neuropathy, and has symptoms including ataxia and static tremor. An important gene associated with Leber Hereditary Optic Neuropathy is MT-ND4 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 4), and among its related pathways/superpathways are Oxidative phosphorylation and Metabolism. The drugs Idebenone and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and testes, and related phenotypes are ataxia and optic atrophy

Genetics Home Reference : 25 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.

Wikipedia : 76 Leber''s hereditary optic neuropathy (LHON) or Leber hereditary optic atrophy is a mitochondrially... more...

GeneReviews: NBK1174

Related Diseases for Leber Hereditary Optic Neuropathy

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

(show top 50) (show all 110)
# Related Disease Score Top Affiliating Genes
1 leber optic atrophy and dystonia 33.9 MT-ND1 MT-ND3 MT-ND4 MT-ND6
2 neuropathy 32.4 MT-ATP6 MT-ND1 MT-ND4 MT-ND5 MT-ND6
3 mitochondrial complex i deficiency 32.1 MT-CO1 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L
4 optic nerve disease 32.1 MT-ATP6 MT-ND1 MT-ND4 MT-ND4L MT-ND5 MT-ND6
5 leber optic atrophy 32.0 MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND2
6 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 31.9 MT-ATP6 MT-CO1 MT-CO3 MT-ND1 MT-ND3 MT-ND4
7 dystonia 31.1 MT-CYB MT-ND1 MT-ND3 MT-ND4 MT-ND6
8 3-methylglutaconic aciduria, type iii 30.7 MT-ND4 MT-ND6 OPA1
9 mitochondrial disorders 30.4 MT-ATP6 OPA1
10 retinitis pigmentosa 30.3 MT-ATP6 MT-CO3 MT-CYB MT-ND3 MT-ND4 MT-ND4L
11 mitochondrial metabolism disease 29.9 MT-ATP6 MT-ND3 MT-ND4 MT-ND5 MT-ND6 NDUFA1
12 leigh syndrome 29.6 MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND2
13 loiasis 12.4
14 leber congenital amaurosis 11.8
15 optic atrophy 1 11.3
16 filariasis 10.8
17 onchocerciasis 10.6
18 filarial elephantiasis 10.6
19 multiple sclerosis 10.4
20 neuromyelitis optica 10.4
21 acanthocheilonemiasis 10.4
22 mitochondrial myopathy, infantile, transient 10.3 MT-CYB MT-ND6
23 genetic recurrent myoglobinuria 10.3 MT-CO1 MT-CO3
24 sideroblastic anemia acquired 10.3 MT-ATP6 MT-CO1
25 myiasis 10.3 MT-CO1 MT-ND5
26 deafness, aminoglycoside-induced 10.3 MT-CO1 MT-ND4
27 cardiomyopathy, infantile histiocytoid 10.3 MT-CYB NDUFB11
28 parkinson disease 6, autosomal recessive early-onset 10.3 MT-CYB MT-ND5 MT-ND6
29 parkinson disease, mitochondrial 10.3 MT-ATP6 MT-CYB MT-ND6
30 mansonelliasis 10.3
31 amelogenesis imperfecta, type iv 10.3 MT-CO1 MT-CYB
32 coenurosis 10.3 MT-CO1 MT-ND1
33 alzheimer disease mitochondrial 10.3 MT-ND1 MT-ND2
34 pediculus humanus capitis infestation 10.3 MT-CO1 MT-CYB NDUFS4
35 epilepsy, familial temporal lobe, 2 10.3 MT-CO1 MT-CO3
36 cystic echinococcosis 10.3 MT-ATP6 MT-CO1 MT-ND1
37 mitochondrial dna depletion syndrome 1 10.3 MT-ATP6 MT-CO3 MT-ND3
38 echinococcosis 10.3 MT-ATP6 MT-CO1 MT-ND1
39 diphyllobothriasis 10.3 MT-CO1 MT-ND3 MT-ND5
40 cranial nerve disease 10.3 MT-ND1 MT-ND4 MT-ND5 MT-ND6
41 cercarial dermatitis 10.3 MT-CO1 MT-ND4
42 mitochondrial complex iv deficiency 10.3 MT-CO1 MT-CO3 MT-ND4
43 sparganosis 10.3 MT-CO1 MT-CYB MT-ND3 MT-ND4
44 cardiomyopathy, infantile hypertrophic 10.3 MT-ATP6 MT-CO3 MT-ND3 MT-ND4L
45 taeniasis 10.3 MT-CO1 MT-ND1
46 exposure keratitis 10.2 MT-ND4 NDUFA1
47 spondyloepiphyseal dysplasia with congenital joint dislocations 10.2
48 encephalopathy 10.2
49 striatonigral degeneration, infantile, mitochondrial 10.2 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
50 striatonigral degeneration, infantile 10.2 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L

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



Diseases related to Leber Hereditary Optic Neuropathy

Symptoms & Phenotypes for Leber Hereditary Optic Neuropathy

Human phenotypes related to Leber Hereditary Optic Neuropathy:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
2 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
3 myopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003198
4 peripheral neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009830
5 central scotoma 59 32 frequent (33%) Frequent (79-30%) HP:0000603
6 retinal telangiectasia 59 32 frequent (33%) Frequent (79-30%) HP:0007763
7 blurred vision 59 32 frequent (33%) Frequent (79-30%) HP:0000622
8 slow decrease in visual acuity 59 32 hallmark (90%) Very frequent (99-80%) HP:0007924
9 mitochondrial respiratory chain defects 59 32 hallmark (90%) Very frequent (99-80%) HP:0200125
10 centrocecal scotoma 59 32 frequent (33%) Frequent (79-30%) HP:0000576
11 retinal vascular tortuosity 59 32 frequent (33%) Frequent (79-30%) HP:0012841
12 postural tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002174
13 ventricular preexcitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0004309
14 arrhythmia 59 Occasional (29-5%)

UMLS symptoms related to Leber Hereditary Optic Neuropathy:


ataxia, static tremor

GenomeRNAi Phenotypes related to Leber Hereditary Optic Neuropathy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 8.92 NDUFA1 NDUFS1 NDUFS2 NDUFV1

Drugs & Therapeutics for Leber Hereditary Optic Neuropathy

Drugs for Leber Hereditary Optic Neuropathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 38)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Idebenone Approved, Investigational Phase 4,Phase 3,Phase 2 58186-27-9
2 Protective Agents Phase 4,Phase 3,Phase 2
3 Antioxidants Phase 4,Phase 3,Phase 2
4
Curcumin Approved, Experimental, Investigational Phase 3 458-37-7 969516
5 Antirheumatic Agents Phase 3,Phase 2
6 Analgesics Phase 3
7 Analgesics, Non-Narcotic Phase 3
8 Anti-Inflammatory Agents, Non-Steroidal Phase 3
9 Anti-Inflammatory Agents Phase 3
10 Peripheral Nervous System Agents Phase 3
11 Micronutrients Phase 3,Phase 2
12 Trace Elements Phase 3,Phase 2
13 Ubiquinone Phase 3,Phase 2
14 Anesthetics Phase 3
15 Central Nervous System Depressants Phase 3
16 Pharmaceutical Solutions Phase 3,Phase 2
17 Anti-Infective Agents, Local Phase 3
18
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
19
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
20 Dermatologic Agents Phase 2
21 Cyclosporins Phase 2
22 Antifungal Agents Phase 2
23 Anti-Infective Agents Phase 2
24 Immunologic Factors Phase 2
25 Immunosuppressive Agents Phase 2
26 Calcineurin Inhibitors Phase 2
27 Ophthalmic Solutions Phase 2
28 Neuroprotective Agents Phase 1
29
Triamcinolone Approved, Vet_approved Not Applicable 124-94-7 31307
30
Tocopherol Approved, Investigational 1406-66-2 14986
31
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
32 Tocotrienol Investigational 6829-55-6
33 triamcinolone acetonide Not Applicable
34 Triamcinolone diacetate Not Applicable
35 Triamcinolone hexacetonide Not Applicable
36 Tocopherols
37 Tocotrienols
38 Tocotrienol, alpha

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 Study to Assess the Efficacy and Safety of Raxone in LHON Patients Recruiting NCT02774005 Phase 4 Idebenone
2 A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON) Completed NCT00528151 Phase 3 curcumin
3 Efficacy and Safety Study of Bilateral Intravitreal Injection of GS010 for the Treatment of Vision Loss up to 1 Year From Onset in LHON Due to the ND4 Mutation Recruiting NCT03293524 Phase 3 Placebo
4 Safety and Efficacy Study of Gene Therapy for The Treatment of Leber's Hereditary Optic Neuropathy Active, not recruiting NCT03153293 Phase 2, Phase 3 rAAV2-ND4
5 Efficacy Study of GS010 for Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the ND4 Mutation Active, not recruiting NCT02652780 Phase 3
6 Efficacy Study of GS010 for the Treatment of Vision Loss up to 6 Months From Onset in LHON Due to the ND4 Mutation Active, not recruiting NCT02652767 Phase 3
7 Study With Idebenone in Patients With Chronic Vision Loss Due to Leber's Hereditary Optic Neuropathy (LHON) Withdrawn NCT01495715 Phase 3 Idebenone;Placebo
8 Trial of Cyclosporine in the Acute Phase of Leber Hereditary Optic Neuropathy Unknown status NCT02176733 Phase 2 cyclosporine
9 Study to Assess Efficacy,Safety and Tolerability of Idebenone in the Treatment of Leber's Hereditary Optic Neuropathy Completed NCT00747487 Phase 2 Idebenone;Placebo
10 The KHENERGY Study Completed NCT02909400 Phase 2 KH176;placebo
11 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2 Cysteamine Bitartrate
12 Safety Evaluation of Gene Therapy in Leber Hereditary Optic Neuropathy (LHON) Patients Active, not recruiting NCT02064569 Phase 1, Phase 2
13 A Study Investigating the Safety, Tolerability, and Efficacy of Elamipretide (MTP-131) Topical Ophthalmic Solution for the Treatment of Leber's Hereditary Optic Neuropathy Active, not recruiting NCT02693119 Phase 2 elamipretide (MTP-131) 1% topical ophthalmic solution;Vehicle topical ophthalmic solution
14 Near-infrared Light-emitting Diode (NIR-LED) Therapy for Leber's Hereditary Optic Neuropathy (LHON) Terminated NCT01389817 Phase 1, Phase 2
15 A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease Terminated NCT02473445 Phase 2 Cysteamine Bitartrate
16 A Dose-escalating Clinical Trial With KH176 Completed NCT02544217 Phase 1 KH176;placebo
17 Safety Study of a Single IVT Injection of QPI-1007 in Chronic Optic Nerve Atrophy and Recent Onset NAION Patients Completed NCT01064505 Phase 1 QPI-1007 at various doses
18 Safety Study of an Adeno-associated Virus Vector for Gene Therapy of Leber's Hereditary Optic Neuropathy Recruiting NCT02161380 Phase 1 injection of scAAV2-P1ND4v2 5.00x10e9 vg (Low),;injection of scAAV2-P1ND4v2 2.46X10e10 vg (Med);injection of scAAV2-P1ND4v2 1.0X10e11vg (High)
19 Safety and Efficacy Study of rAAV2-ND4 Treatment of Leber Hereditary Optic Neuropathy (LHON) Completed NCT01267422 Not Applicable rAAV2-ND4
20 Historical Case Record Survey of Visual Acuity Data From Patients With Leber's Hereditary Optic Neuropathy (LHON) Completed NCT02796274
21 Leber Hereditary Optic Neuropathy (LHON) Historical Case Record Survey Completed NCT01892943
22 RHODOS Follow-up Single-visit Study Completed NCT01421381
23 REALITY LHON Registry Recruiting NCT03295071
24 Post Authorisation Safety Study With Raxone in LHON Patients Recruiting NCT02771379 Idebenone
25 RESCUE and REVERSE Long-term Follow-up Recruiting NCT03406104
26 Efficacy Study of Gene Therapy for The Treatment of Acute LHON Onset Within Three Months Recruiting NCT03428178 Not Applicable rAAV2-ND4
27 Biomechanics of Optic Neuropathy Recruiting NCT02982499
28 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541 Not Applicable
29 New Non-invasive Modalities for Assessing Retinal Structure and Function Recruiting NCT03475173 Not Applicable
30 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
31 EAP_GS010_single Patient Available NCT03672968
32 Emergency Administration of EPI-743 to a Single Patient With Leber's Hereditary Optic Neuropathy [LHON] No longer available NCT02300753 EPI-743

Search NIH Clinical Center for Leber Hereditary Optic Neuropathy

Cochrane evidence based reviews: optic atrophy, hereditary, leber

Genetic Tests for Leber Hereditary Optic Neuropathy

Genetic tests related to Leber Hereditary Optic Neuropathy:

# Genetic test Affiliating Genes
1 Leber's Optic Atrophy 29 MT-ATP6 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6

Anatomical Context for Leber Hereditary Optic Neuropathy

MalaCards organs/tissues related to Leber Hereditary Optic Neuropathy:

41
Eye, Bone, Testes, Spinal Cord, Thyroid, Temporal Lobe, Heart

Publications for Leber Hereditary Optic Neuropathy

Articles related to Leber Hereditary Optic Neuropathy:

(show top 50) (show all 315)
# Title Authors Year
1
Safety of rAAV2/2-ND4 Gene Therapy for Leber Hereditary Optic Neuropathy. ( 29426586 )
2018
2
Analysis of Visual Field Defects Obtained with Semiautomated Kinetic Perimetry in Patients with Leber Hereditary Optic Neuropathy. ( 29750122 )
2018
3
Longterm Reversal of Severe Visual Loss by Mitochondrial Gene Transfer in a Mouse Model of Leber Hereditary Optic Neuropathy. ( 29615737 )
2018
4
Late-onset Leber hereditary optic neuropathy presenting after intraocular surgery. ( 29784175 )
2018
5
Optical coherence tomography angiography changes in radial peripapillary capillaries in Leber hereditary optic neuropathy. ( 29468220 )
2018
6
MRI of the Optic Nerves and Chiasm in Patients With Leber Hereditary Optic Neuropathy. ( 29300239 )
2018
7
Teaching NeuroImages: Leber hereditary optic neuropathy masquerading as neuromyelitis optica. ( 29284658 )
2018
8
Evaluation of Vision-Related Quality of Life in Chinese Patients With Leber Hereditary Optic Neuropathy and the G11778A Mutation. ( 29554000 )
2018
9
Renal artery aneurysm associated with Leber hereditary optic neuropathy. ( 29725659 )
2018
10
Leber Hereditary Optic Neuropathy Caused by a Mitochondrial DNA 10663T>C Point Mutation and Its Response to Idebenone Treatment. ( 29210930 )
2018
11
Cardiac Disorders in Patients With Leber Hereditary Optic Neuropathy. ( 29384800 )
2018
12
The Decrease in Mitochondrial DNA Mutation Load Parallels Visual Recovery in a Leber Hereditary Optic Neuropathy Patient. ( 29479304 )
2018
13
Never too old: late-onset Leber hereditary optic neuropathy. ( 28281297 )
2018
14
Re: Guy et al.: Gene therapy for Leber hereditary optic neuropathy: low-and medium-dose visual results (Ophthalmology. 2017;124:1621-1634). ( 29389412 )
2018
15
Topographic Macular Microvascular Changes and Correlation With Visual Loss in Chronic Leber Hereditary Optic Neuropathy. ( 29885298 )
2018
16
Food derived respiratory complex I inhibitors modify the effect of Leber hereditary optic neuropathy mutations. ( 29991444 )
2018
17
Leber Hereditary Optic Neuropathy-Light at the End of the Tunnel? ( 30008192 )
2018
18
A Case of Atypical Leber Hereditary Optic Neuropathy With Slow, Symmetrical Progression Over Three Years. ( 30106804 )
2018
19
Leber Hereditary Optic Neuropathy in a Mother and Daughter Associated With m.10197G>A Mutation. ( 30199507 )
2018
20
Peripapillary microcirculation in Leber hereditary optic neuropathy. ( 30259673 )
2018
21
An uncommon cause of vision loss: Leber hereditary optic neuropathy. ( 30358677 )
2018
22
Myelin Oligodendrocyte Glycoprotein Antibody-Associated Demyelination Comorbid With Leber Hereditary Optic Neuropathy. ( 30422222 )
2018
23
Unilateral cone-rod dysfunction and retinal thinning in a child carrying the 14484 mutation of Leber hereditary optic neuropathy. ( 30447424 )
2018
24
Treatment strategies for Leber hereditary optic neuropathy. ( 30516647 )
2018
25
Mitochondria in neuroinflammation - Multiple sclerosis (MS), leber hereditary optic neuropathy (LHON) and LHON-MS. ( 28668384 )
2017
26
Vision Loss and Symmetric Basal Ganglia Lesions in Leber Hereditary Optic Neuropathy. ( 28459737 )
2017
27
Visual prognosis better in eyes with less severe reduction of visual acuity one year after onset of Leber hereditary optic neuropathy caused by the 11,778 mutation. ( 29047345 )
2017
28
International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy. ( 28991104 )
2017
29
Differentiating Leber Hereditary Optic Neuropathy from Normal-Tension Glaucoma. ( 28348633 )
2017
30
The therapeutic potential of a calorie-restricted ketogenic diet for the management of Leber hereditary optic neuropathy. ( 28994349 )
2017
31
Identification of an ND4 Mutation in Leber Hereditary Optic Neuropathy. ( 29116953 )
2017
32
Childhood-onset Leber hereditary optic neuropathy. ( 28314831 )
2017
33
The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy. ( 28729193 )
2017
34
Gene Therapy for Leber Hereditary Optic Neuropathy: Low- and Medium-Dose Visual Results. ( 28647203 )
2017
35
Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis. ( 29249004 )
2017
36
Optical coherence tomography angiography in leber hereditary optic neuropathy. ( 27778481 )
2017
37
Evaluating the therapeutic potential of idebenone and related quinone analogues in Leber hereditary optic neuropathy. ( 28093355 )
2017
38
Leber hereditary optic neuropathy due to a new ND1 mutation. ( 28139165 )
2017
39
Re: Feuer et al.: Gene therapy for Leber hereditary optic neuropathy: initial results (Ophthalmology 2016;123:558-570). ( 28219504 )
2017
40
Leber Hereditary Optic Neuropathy: Exemplar of an mtDNA Disease. ( 28233183 )
2017
41
Nationwide epidemiological survey of Leber hereditary optic neuropathy in Japan. ( 28392196 )
2017
42
Presymptomatic Visual Loss in Leber Hereditary Optic Neuropathy: A Therapeutic Window of Opportunity? ( 28528823 )
2017
43
Leber hereditary optic neuropathy: bridging the translational gap. ( 28650878 )
2017
44
Optimization of a genotyping screening based on hydrolysis probes to detect the main mutations related to Leber hereditary optic neuropathy (LHON). ( 28761322 )
2017
45
Leber Hereditary Optic Neuropathy: Bringing the Lab to the Clinic. ( 26959136 )
2016
46
Leber hereditary optic neuropathy: What are the therapeutic perspectives? ( 27542523 )
2016
47
A Meta-analysis of the association between different genotypes (G11778A, T14484C and G3460A) of Leber hereditary optic neuropathy and visual prognosis. ( 27803870 )
2016
48
[Leber hereditary optic neuropathy: Usefulness of next generation sequencing to study mitochondrial mutations on apparent homoplasmy]. ( 26683077 )
2016
49
Leber Hereditary Optic Neuropathy with Interval of Visual Loss Greater Than 12 Months. ( 27928414 )
2016
50
NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy. ( 27402943 )
2016

Variations for Leber Hereditary Optic Neuropathy

ClinVar genetic disease variations for Leber Hereditary Optic Neuropathy:

6 (show top 50) (show all 95)
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-ATP6 m.9101T> C single nucleotide variant Pathogenic rs199476134 GRCh37 Chromosome MT, 9101: 9101
2 MT-ATP6 m.9101T> C single nucleotide variant Pathogenic rs199476134 GRCh38 Chromosome MT, 9101: 9101
3 MT-CO3 m.9438G> A single nucleotide variant Pathogenic rs267606611 GRCh37 Chromosome MT, 9438: 9438
4 MT-CO3 m.9438G> A single nucleotide variant Pathogenic rs267606611 GRCh38 Chromosome MT, 9438: 9438
5 MT-CO3 m.9804G> A single nucleotide variant Pathogenic rs200613617 GRCh37 Chromosome MT, 9804: 9804
6 MT-CO3 m.9804G> A single nucleotide variant Pathogenic rs200613617 GRCh38 Chromosome MT, 9804: 9804
7 MT-CO1; MT-TS1 m.7444G> A single nucleotide variant Pathogenic rs199474822 GRCh37 Chromosome MT, 7444: 7444
8 MT-CO1; MT-TS1 m.7444G> A single nucleotide variant Pathogenic rs199474822 GRCh38 Chromosome MT, 7444: 7444
9 MT-CYB m.15257G> A single nucleotide variant Conflicting interpretations of pathogenicity rs41518645 GRCh37 Chromosome MT, 15257: 15257
10 MT-CYB m.15257G> A single nucleotide variant Conflicting interpretations of pathogenicity rs41518645 GRCh38 Chromosome MT, 15257: 15257
11 MT-CYB m.15812G> A single nucleotide variant Pathogenic rs200336777 GRCh37 Chromosome MT, 15812: 15812
12 MT-CYB m.15812G> A single nucleotide variant Pathogenic rs200336777 GRCh38 Chromosome MT, 15812: 15812
13 MT-ND6 NC_012920.1: m.14484T> C single nucleotide variant Pathogenic rs199476104 GRCh37 Chromosome MT, 14484: 14484
14 MT-ND6 NC_012920.1: m.14484T> C single nucleotide variant Pathogenic rs199476104 GRCh38 Chromosome MT, 14484: 14484
15 MT-ND6 m.14459G> A single nucleotide variant Pathogenic rs199476105 GRCh37 Chromosome MT, 14459: 14459
16 MT-ND6 m.14459G> A single nucleotide variant Pathogenic rs199476105 GRCh38 Chromosome MT, 14459: 14459
17 MT-ND6 m.14596A> T single nucleotide variant Pathogenic rs387906424 GRCh37 Chromosome MT, 14596: 14596
18 MT-ND6 m.14596A> T single nucleotide variant Pathogenic rs387906424 GRCh38 Chromosome MT, 14596: 14596
19 MT-ND6 m.14495A> G single nucleotide variant Pathogenic rs199476106 GRCh37 Chromosome MT, 14495: 14495
20 MT-ND6 m.14495A> G single nucleotide variant Pathogenic rs199476106 GRCh38 Chromosome MT, 14495: 14495
21 MT-ND6 m.14482C> A single nucleotide variant Pathogenic rs199476108 GRCh37 Chromosome MT, 14482: 14482
22 MT-ND6 m.14482C> A single nucleotide variant Pathogenic rs199476108 GRCh38 Chromosome MT, 14482: 14482
23 MT-ND5 m.13708G> A single nucleotide variant Conflicting interpretations of pathogenicity rs28359178 GRCh37 Chromosome MT, 13708: 13708
24 MT-ND5 m.13708G> A single nucleotide variant Conflicting interpretations of pathogenicity rs28359178 GRCh38 Chromosome MT, 13708: 13708
25 MT-ND5 m.13730G> A single nucleotide variant Pathogenic rs387906425 GRCh37 Chromosome MT, 13730: 13730
26 MT-ND5 m.13730G> A single nucleotide variant Pathogenic rs387906425 GRCh38 Chromosome MT, 13730: 13730
27 MT-ND5 m.13045A> C single nucleotide variant Pathogenic rs267606895 GRCh37 Chromosome MT, 13045: 13045
28 MT-ND5 m.13045A> C single nucleotide variant Pathogenic rs267606895 GRCh38 Chromosome MT, 13045: 13045
29 MT-ND5 m.12848C> T single nucleotide variant Pathogenic rs267606899 GRCh37 Chromosome MT, 12848: 12848
30 MT-ND5 m.12848C> T single nucleotide variant Pathogenic rs267606899 GRCh38 Chromosome MT, 12848: 12848
31 MT-ND4L m.10663T> C single nucleotide variant Pathogenic rs193302933 GRCh37 Chromosome MT, 10663: 10663
32 MT-ND4L m.10663T> C single nucleotide variant Pathogenic rs193302933 GRCh38 Chromosome MT, 10663: 10663
33 MT-ND4 NC_012920.1: m.11778G> A single nucleotide variant Pathogenic rs199476112 GRCh37 Chromosome MT, 11778: 11778
34 MT-ND4 NC_012920.1: m.11778G> A single nucleotide variant Pathogenic rs199476112 GRCh38 Chromosome MT, 11778: 11778
35 MT-ND4 m.11696G> A single nucleotide variant Pathogenic rs200873900 GRCh37 Chromosome MT, 11696: 11696
36 MT-ND4 m.11696G> A single nucleotide variant Pathogenic rs200873900 GRCh38 Chromosome MT, 11696: 11696
37 MT-ND2 m.4917A> G single nucleotide variant Uncertain significance rs28357980 GRCh37 Chromosome MT, 4917: 4917
38 MT-ND2 m.4917A> G single nucleotide variant Uncertain significance rs28357980 GRCh38 Chromosome MT, 4917: 4917
39 MT-ND2 m.5244G> A single nucleotide variant Pathogenic rs199476115 GRCh37 Chromosome MT, 5244: 5244
40 MT-ND2 m.5244G> A single nucleotide variant Pathogenic rs199476115 GRCh38 Chromosome MT, 5244: 5244
41 MT-ND2 m.4640C> A single nucleotide variant Pathogenic rs387906426 GRCh37 Chromosome MT, 4640: 4640
42 MT-ND2 m.4640C> A single nucleotide variant Pathogenic rs387906426 GRCh38 Chromosome MT, 4640: 4640
43 MT-ND1 NC_012920.1: m.3460G> A single nucleotide variant Pathogenic rs199476118 GRCh37 Chromosome MT, 3460: 3460
44 MT-ND1 NC_012920.1: m.3460G> A single nucleotide variant Pathogenic rs199476118 GRCh38 Chromosome MT, 3460: 3460
45 MT-ND1 m.4160T> C single nucleotide variant Pathogenic rs199476119 GRCh37 Chromosome MT, 4160: 4160
46 MT-ND1 m.4160T> C single nucleotide variant Pathogenic rs199476119 GRCh38 Chromosome MT, 4160: 4160
47 MT-ND1 m.4216T> C single nucleotide variant Conflicting interpretations of pathogenicity rs1599988 GRCh37 Chromosome MT, 4216: 4216
48 MT-ND1 m.4216T> C single nucleotide variant Conflicting interpretations of pathogenicity rs1599988 GRCh38 Chromosome MT, 4216: 4216
49 MT-ND1 m.3394T> C single nucleotide variant Pathogenic rs41460449 GRCh37 Chromosome MT, 3394: 3394
50 MT-ND1 m.3394T> C single nucleotide variant Pathogenic rs41460449 GRCh38 Chromosome MT, 3394: 3394

Expression for Leber Hereditary Optic Neuropathy

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

Pathways for Leber Hereditary Optic Neuropathy

Pathways related to Leber Hereditary Optic Neuropathy according to KEGG:

37
# Name Kegg Source Accession
1 Oxidative phosphorylation hsa00190

GO Terms for Leber Hereditary Optic Neuropathy

Cellular components related to Leber Hereditary Optic Neuropathy according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 mitochondrial membrane GO:0031966 9.87 MT-ND1 MT-ND3 MT-ND4 MT-ND4L MT-ND6 NDUFA1
2 respiratory chain GO:0070469 9.83 MT-CO1 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4
3 mitochondrial respiratory chain complex IV GO:0005751 9.49 MT-CO1 MT-CO3
4 mitochondrial respiratory chain complex III GO:0005750 9.48 MT-CO1 MT-CYB
5 respiratory chain complex IV GO:0045277 9.46 MT-CO1 MT-CO3
6 NADH dehydrogenase complex GO:0030964 9.43 MT-ND3 MT-ND4L
7 mitochondrial respiratory chain complex I GO:0005747 9.4 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5
8 membrane GO:0016020 10.35 EPHX1 MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1
9 integral component of membrane GO:0016021 10.28 EPHX1 MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1
10 mitochondrion GO:0005739 10.1 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND3 MT-ND4
11 mitochondrial inner membrane GO:0005743 10.09 MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND2

Biological processes related to Leber Hereditary Optic Neuropathy according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 response to organic cyclic compound GO:0014070 9.73 EPHX1 MT-CYB MT-ND1
2 aging GO:0007568 9.73 MT-ATP6 MT-CO1 MT-ND4 OPA1
3 mitochondrial respiratory chain complex I assembly GO:0032981 9.73 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6
4 response to oxidative stress GO:0006979 9.72 MT-CO1 MT-ND3 NDUFS2
5 aerobic respiration GO:0009060 9.67 MT-CO1 MT-CO3 MT-ND1 MT-ND4
6 reactive oxygen species metabolic process GO:0072593 9.58 MT-ND2 NDUFS1 NDUFS4
7 response to electrical stimulus GO:0051602 9.57 MT-CO1 OPA1
8 ATP synthesis coupled electron transport GO:0042773 9.56 MT-ND4 MT-ND4L MT-ND5 NDUFS1
9 cellular respiration GO:0045333 9.54 NDUFS1 NDUFS4
10 respiratory electron transport chain GO:0022904 9.52 MT-CO3 MT-CYB
11 response to copper ion GO:0046688 9.51 MT-CO1 MT-CYB
12 electron transport coupled proton transport GO:0015990 9.5 MT-CO1 MT-CYB MT-ND4
13 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.49 MT-CO1 MT-CO3
14 response to hyperoxia GO:0055093 9.48 MT-ATP6 MT-CYB
15 mitochondrial ATP synthesis coupled electron transport GO:0042775 9.46 NDUFS2 NDUFV1
16 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.36 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5
17 oxidation-reduction process GO:0055114 10.03 MT-CO1 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4

Molecular functions related to Leber Hereditary Optic Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.73 MT-CO1 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4
2 oxidoreductase activity, acting on NAD(P)H GO:0016651 9.65 MT-ND4L NDUFS1 NDUFS2 NDUFS4 NDUFV1
3 electron transfer activity GO:0009055 9.62 MT-CO3 MT-CYB NDUFS1 NDUFS2
4 iron-sulfur cluster binding GO:0051536 9.58 NDUFS1 NDUFS2 NDUFV1
5 NADH dehydrogenase activity GO:0003954 9.55 MT-ND1 MT-ND4 MT-ND5 NDUFS1 NDUFS2
6 4 iron, 4 sulfur cluster binding GO:0051539 9.54 NDUFS1 NDUFS2 NDUFV1
7 cytochrome-c oxidase activity GO:0004129 9.43 MT-CO1 MT-CO3
8 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.4 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5

Sources for Leber Hereditary Optic Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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