MCID: LBR002
MIFTS: 57

Leber Hereditary Optic Neuropathy

Categories: Rare diseases, Eye diseases, Metabolic diseases, Neuronal 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
Leber Plus Disease 59 6
Lebers Hereditary Optic Neuropathy 55
Hereditary Optic Neuroretinopathy 25
Leber Congenital Amaurosis 73
Optic Atrophy, Leber Type 53
Optic Atrophy Leber Type 75
Atrophy, Optic, Leber’s 40
Lhon Plus Disease 59
Leber's Disease 24
Leber’s Disease 53
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;
leber plus disease
Inheritance: Mitochondrial inheritance; Prevalence: <1/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy; 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
ICD10 via Orphanet 34 H47.2
UMLS via Orphanet 74 C0917796
MedGen 42 C0917796
KEGG 37 H00068
UMLS 73 C0917796

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 Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and spinal cord, and related phenotypes are retinal telangiectasia and blurred vision

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 93)
# Related Disease Score Top Affiliating Genes
1 leber optic atrophy and dystonia 34.6 MT-ND1 MT-ND3 MT-ND4 MT-ND6
2 neuropathy 33.1 MT-ATP6 MT-ND1 MT-ND4 MT-ND6
3 optic nerve disease 32.4 MT-ND1 MT-ND4 MT-ND5 MT-ND6 NDUFA1 OPA1
4 leber optic atrophy 31.8 MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND2
5 mitochondrial complex i deficiency 31.3 MT-CO1 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L
6 3-methylglutaconic aciduria, type iii 31.2 MT-ND4 MT-ND6 OPA1
7 mitochondrial metabolism disease 30.8 MT-ATP6 MT-ND3 MT-ND5 MT-ND6 NDUFA1 NDUFS1
8 retinitis pigmentosa 30.6 MT-ATP6 MT-CO3 MT-CYB MT-ND3 MT-ND4 MT-ND4L
9 mitochondrial disorders 30.4 MT-ATP6 MT-ND1 MT-ND3 MT-ND4 MT-ND5 MT-ND6
10 leigh syndrome 28.4 MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND2
11 loiasis 12.2
12 leber congenital amaurosis 11.2
13 optic atrophy 1 11.2
14 mitochondrial myopathy, infantile, transient 11.1 MT-CYB MT-ND6
15 parkinson disease, mitochondrial 11.1 MT-CYB MT-ND6
16 genetic recurrent myoglobinuria 11.1 MT-CO1 MT-CO3
17 cardiomyopathy, infantile histiocytoid 11.1 MT-CYB NDUFB11
18 alzheimer disease mitochondrial 11.1 MT-ND1 MT-ND2
19 deafness, aminoglycoside-induced 11.1 MT-CO1 MT-ND4
20 sideroblastic anemia acquired 11.1 MT-ATP6 MT-CO1
21 parkinson disease 6, autosomal recessive early-onset 11.0 MT-CYB MT-ND5 MT-ND6
22 myiasis 11.0 MT-CO1 MT-ND5
23 coenurosis 11.0 MT-CO1 MT-ND1
24 amelogenesis imperfecta, type iv 11.0 MT-CO1 MT-CYB
25 cystic echinococcosis 11.0 MT-ATP6 MT-CO1 MT-ND1
26 mitochondrial dna depletion syndrome 1 11.0 MT-ATP6 MT-CO3 MT-ND3
27 myoglobinuria, recurrent 11.0 MT-CO1 MT-ND2
28 echinococcosis 11.0 MT-ATP6 MT-CO1 MT-ND1
29 diphyllobothriasis 11.0 MT-CO1 MT-ND3 MT-ND5
30 epilepsy, familial temporal lobe, 2 10.9 MT-CO1 MT-CO3
31 cranial nerve disease 10.9 MT-ND1 MT-ND4 MT-ND5 MT-ND6
32 taeniasis 10.9 MT-CO1 MT-ND1
33 cercarial dermatitis 10.9 MT-CO1 MT-ND4
34 sparganosis 10.9 MT-CO1 MT-CYB MT-ND3 MT-ND4
35 phlebotomus fever 10.9 MT-CYB MT-ND1
36 cardiomyopathy, infantile hypertrophic 10.8 MT-ATP6 MT-CO3 MT-ND3 MT-ND4L
37 mitochondrial complex iv deficiency 10.8 MT-CO1 MT-CO3 MT-ND3
38 encephalomyopathy 10.8 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6
39 cortical blindness 10.8 MT-ND4 MT-ND6
40 myasthenic syndrome, congenital, 10 10.8 MT-CO1 MT-CYB
41 striatonigral degeneration, infantile, mitochondrial 10.8 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
42 myopathy, lactic acidosis, and sideroblastic anemia 3 10.8 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
43 striatonigral degeneration, infantile 10.8 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
44 ataxia and polyneuropathy, adult-onset 10.8 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
45 myopathy, lactic acidosis, and sideroblastic anemia 10.7 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
46 scotoma 10.7 MT-ND4 OPA1
47 leigh syndrome with leukodystrophy 10.7 NDUFS1 NDUFS2 NDUFS4 NDUFV1
48 parkinson disease, late-onset 10.7 MT-ND1 MT-ND2 MT-ND5 NDUFS4
49 lactic acidosis 10.6 MT-ATP6 MT-CO3 MT-CYB MT-ND1 MT-ND4 MT-ND5
50 kearns-sayre syndrome 10.6 MT-ATP6 MT-CO1 MT-CYB MT-ND1 MT-ND4 MT-ND5

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

UMLS symptoms related to Leber Hereditary Optic Neuropathy:


ataxia, static tremor

Drugs & Therapeutics for Leber Hereditary Optic Neuropathy

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

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

Interventional clinical trials:

(show all 31)
# 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 Leber Hereditary Optic Neuropathy (LHON) Historical Case Record Survey Completed NCT01892943
21 RHODOS Follow-up Single-visit Study Completed NCT01421381
22 Historical Case Record Survey of Visual Acuity Data From Patients With Leber's Hereditary Optic Neuropathy (LHON) Recruiting NCT02796274
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 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, Testes, Spinal Cord, Thyroid

Publications for Leber Hereditary Optic Neuropathy

Articles related to Leber Hereditary Optic Neuropathy:

(show top 50) (show all 278)
# 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&amp;gt;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
Re: Guy etA al.: Gene therapy for Leber hereditary optic neuropathy: low-and medium-dose visual results (Ophthalmology. 2017;124:1621-1634). ( 29389412 )
2018
14
Mitochondria in neuroinflammation - Multiple sclerosis (MS), leber hereditary optic neuropathy (LHON) and LHON-MS. ( 28668384 )
2017
15
Vision Loss and Symmetric Basal Ganglia Lesions in Leber Hereditary Optic Neuropathy. ( 28459737 )
2017
16
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
17
International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy. ( 28991104 )
2017
18
Differentiating Leber Hereditary Optic Neuropathy from Normal-Tension Glaucoma. ( 28348633 )
2017
19
The therapeutic potential of a calorie-restricted ketogenic diet for the management of Leber hereditary optic neuropathy. ( 28994349 )
2017
20
Identification of an ND4 Mutation in Leber Hereditary Optic Neuropathy. ( 29116953 )
2017
21
Childhood-onset Leber hereditary optic neuropathy. ( 28314831 )
2017
22
The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy. ( 28729193 )
2017
23
Gene Therapy for Leber Hereditary Optic Neuropathy: Low- and Medium-Dose Visual Results. ( 28647203 )
2017
24
Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis. ( 29249004 )
2017
25
Nationwide epidemiological survey of Leber hereditary optic neuropathy in Japan. ( 28392196 )
2017
26
Leber hereditary optic neuropathy: bridging the translational gap. ( 28650878 )
2017
27
Optimization of a genotyping screening based on hydrolysis probes to detect the main mutations related to Leber hereditary optic neuropathy (LHON). ( 28761322 )
2017
28
Presymptomatic Visual Loss in Leber Hereditary Optic Neuropathy: AA Therapeutic Window of Opportunity? ( 28528823 )
2017
29
Leber Hereditary Optic Neuropathy: Bringing the Lab to the Clinic. ( 26959136 )
2016
30
Leber hereditary optic neuropathy: What are the therapeutic perspectives? ( 27542523 )
2016
31
A Meta-analysis of the association between different genotypes (G11778A, T14484C and G3460A) of Leber hereditary optic neuropathy and visual prognosis. ( 27803870 )
2016
32
[Leber hereditary optic neuropathy: Usefulness of next generation sequencing to study mitochondrial mutations on apparent homoplasmy]. ( 26683077 )
2016
33
Leber Hereditary Optic Neuropathy with Interval of Visual Loss Greater Than 12 Months. ( 27928414 )
2016
34
NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy. ( 27402943 )
2016
35
Gene Therapy for Leber Hereditary Optic Neuropathy: Initial Results. ( 26606867 )
2016
36
Re: Feuer etA al.: Gene therapy for Leber hereditary optic neuropathy: initial results (Ophthalmology 2016;123:558-70). ( 27342337 )
2016
37
Leber Hereditary Optic Neuropathy Associated with Bilateral Macular Holes. ( 27335507 )
2016
38
Macular Retinal Sublayer Thicknesses in G11778A Leber Hereditary Optic Neuropathy. ( 27631475 )
2016
39
Prevalence and Genetics of Leber Hereditary Optic Neuropathy in the Danish Population. ( 27007794 )
2016
40
The Optical Coherence Tomographic Profile of Leber Hereditary Optic Neuropathy. ( 27928393 )
2016
41
Peripapillary Capillary Dilation in Leber Hereditary Optic Neuropathy Revealed by Optical Coherence Tomographic Angiography. ( 27711925 )
2016
42
Atypical Leber Hereditary Optic Neuropathy: 18 Year Interval Between Eyes. ( 26819093 )
2016
43
Leber Hereditary Optic Neuropathy: A Mitochondrial Disease Unique in Many Ways. ( 27787713 )
2016
44
Leber Hereditary Optic Neuropathy: Visual Recovery in a Patient With the Rare m.3890G&amp;gt;A Point Mutation. ( 27798429 )
2016
45
Optical coherence tomography angiography in Leber hereditary optic neuropathy. ( 27821565 )
2016
46
The Epidemiology of Leber Hereditary Optic Neuropathy in the North East of England. ( 27259056 )
2016
47
Gene-Based Therapies for Leber Hereditary Optic Neuropathy. Hype or Hope? ( 27488066 )
2016
48
Trauma-Associated Leber Hereditary Optic Neuropathy. ( 27928405 )
2016
49
Optical coherence tomography angiography in leber hereditary optic neuropathy. ( 27778481 )
2016
50
Leber hereditary optic neuropathy: current perspectives. ( 26170609 )
2015

Variations for Leber Hereditary Optic Neuropathy

ClinVar genetic disease variations for Leber Hereditary Optic Neuropathy:

6
(show top 50) (show all 86)
# 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.15812G> A single nucleotide variant Pathogenic rs200336777 GRCh37 Chromosome MT, 15812: 15812
10 MT-CYB m.15812G> A single nucleotide variant Pathogenic rs200336777 GRCh38 Chromosome MT, 15812: 15812
11 MT-ND6 NC_012920.1: m.14484T> C single nucleotide variant Pathogenic rs199476104 GRCh37 Chromosome MT, 14484: 14484
12 MT-ND6 NC_012920.1: m.14484T> C single nucleotide variant Pathogenic rs199476104 GRCh38 Chromosome MT, 14484: 14484
13 MT-ND6 m.14459G> A single nucleotide variant Pathogenic rs199476105 GRCh37 Chromosome MT, 14459: 14459
14 MT-ND6 m.14459G> A single nucleotide variant Pathogenic rs199476105 GRCh38 Chromosome MT, 14459: 14459
15 MT-ND6 m.14596A> T single nucleotide variant Pathogenic rs387906424 GRCh37 Chromosome MT, 14596: 14596
16 MT-ND6 m.14596A> T single nucleotide variant Pathogenic rs387906424 GRCh38 Chromosome MT, 14596: 14596
17 MT-ND6 m.14495A> G single nucleotide variant Pathogenic rs199476106 GRCh37 Chromosome MT, 14495: 14495
18 MT-ND6 m.14495A> G single nucleotide variant Pathogenic rs199476106 GRCh38 Chromosome MT, 14495: 14495
19 MT-ND6 m.14482C> A single nucleotide variant Pathogenic rs199476108 GRCh37 Chromosome MT, 14482: 14482
20 MT-ND6 m.14482C> A single nucleotide variant Pathogenic rs199476108 GRCh38 Chromosome MT, 14482: 14482
21 MT-ND5 m.13730G> A single nucleotide variant Pathogenic rs387906425 GRCh37 Chromosome MT, 13730: 13730
22 MT-ND5 m.13730G> A single nucleotide variant Pathogenic rs387906425 GRCh38 Chromosome MT, 13730: 13730
23 MT-ND5 m.13045A> C single nucleotide variant Pathogenic rs267606895 GRCh37 Chromosome MT, 13045: 13045
24 MT-ND5 m.13045A> C single nucleotide variant Pathogenic rs267606895 GRCh38 Chromosome MT, 13045: 13045
25 MT-ND5 m.12848C> T single nucleotide variant Pathogenic rs267606899 GRCh37 Chromosome MT, 12848: 12848
26 MT-ND5 m.12848C> T single nucleotide variant Pathogenic rs267606899 GRCh38 Chromosome MT, 12848: 12848
27 MT-ND4L m.10663T> C single nucleotide variant Pathogenic rs193302933 GRCh37 Chromosome MT, 10663: 10663
28 MT-ND4L m.10663T> C single nucleotide variant Pathogenic rs193302933 GRCh38 Chromosome MT, 10663: 10663
29 MT-ND4 NC_012920.1: m.11778G> A single nucleotide variant Pathogenic rs199476112 GRCh37 Chromosome MT, 11778: 11778
30 MT-ND4 NC_012920.1: m.11778G> A single nucleotide variant Pathogenic rs199476112 GRCh38 Chromosome MT, 11778: 11778
31 MT-ND4 m.11696G> A single nucleotide variant Pathogenic rs200873900 GRCh37 Chromosome MT, 11696: 11696
32 MT-ND4 m.11696G> A single nucleotide variant Pathogenic rs200873900 GRCh38 Chromosome MT, 11696: 11696
33 MT-ND2 m.5244G> A single nucleotide variant Pathogenic rs199476115 GRCh37 Chromosome MT, 5244: 5244
34 MT-ND2 m.5244G> A single nucleotide variant Pathogenic rs199476115 GRCh38 Chromosome MT, 5244: 5244
35 MT-ND2 m.4640C> A single nucleotide variant Pathogenic rs387906426 GRCh37 Chromosome MT, 4640: 4640
36 MT-ND2 m.4640C> A single nucleotide variant Pathogenic rs387906426 GRCh38 Chromosome MT, 4640: 4640
37 MT-ND1 NC_012920.1: m.3460G> A single nucleotide variant Pathogenic rs199476118 GRCh37 Chromosome MT, 3460: 3460
38 MT-ND1 NC_012920.1: m.3460G> A single nucleotide variant Pathogenic rs199476118 GRCh38 Chromosome MT, 3460: 3460
39 MT-ND1 m.4160T> C single nucleotide variant Pathogenic rs199476119 GRCh37 Chromosome MT, 4160: 4160
40 MT-ND1 m.4160T> C single nucleotide variant Pathogenic rs199476119 GRCh38 Chromosome MT, 4160: 4160
41 MT-ND1 m.3394T> C single nucleotide variant Pathogenic rs41460449 GRCh37 Chromosome MT, 3394: 3394
42 MT-ND1 m.3394T> C single nucleotide variant Pathogenic rs41460449 GRCh38 Chromosome MT, 3394: 3394
43 MT-ND1 m.4136A> G single nucleotide variant Pathogenic rs199476121 GRCh37 Chromosome MT, 4136: 4136
44 MT-ND1 m.4136A> G single nucleotide variant Pathogenic rs199476121 GRCh38 Chromosome MT, 4136: 4136
45 MT-ND1 m.4171C> A single nucleotide variant Pathogenic rs28616230 GRCh37 Chromosome MT, 4171: 4171
46 MT-ND1 m.4171C> A single nucleotide variant Pathogenic rs28616230 GRCh38 Chromosome MT, 4171: 4171
47 MT-ND1 m.3697G> A single nucleotide variant Pathogenic rs199476122 GRCh37 Chromosome MT, 3697: 3697
48 MT-ND1 m.3697G> A single nucleotide variant Pathogenic rs199476122 GRCh38 Chromosome MT, 3697: 3697
49 MT-ND1 m.3733G> A single nucleotide variant Pathogenic rs199476125 GRCh37 Chromosome MT, 3733: 3733
50 MT-ND1 m.3733G> A single nucleotide variant Pathogenic rs199476125 GRCh38 Chromosome MT, 3733: 3733

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 12)
# 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 9.51 MT-CO1 MT-CO3
4 mitochondrial respiratory chain complex III GO:0005750 9.49 MT-CO1 MT-CYB
5 respiratory chain complex IV GO:0045277 9.48 MT-CO1 MT-CO3
6 respiratory chain complex I GO:0045271 9.46 MT-ND4 NDUFS4
7 NADH dehydrogenase complex GO:0030964 9.43 MT-ND3 MT-ND4L
8 mitochondrial respiratory chain complex I GO:0005747 9.4 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5
9 membrane GO:0016020 10.35 EPHX1 MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1
10 integral component of membrane GO:0016021 10.28 EPHX1 MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1
11 mitochondrion GO:0005739 10.13 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND3 MT-ND4
12 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 aging GO:0007568 9.78 MT-ATP6 MT-CO1 MT-ND4 OPA1
2 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.77 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5
3 response to oxidative stress GO:0006979 9.72 MT-CO1 MT-ND3 NDUFS2
4 response to organic cyclic compound GO:0014070 9.71 EPHX1 MT-CYB MT-ND1
5 reactive oxygen species metabolic process GO:0072593 9.63 MT-ND2 NDUFS1 NDUFS4
6 aerobic respiration GO:0009060 9.61 MT-CO1 MT-CO3 MT-ND4
7 cellular respiration GO:0045333 9.58 MT-ND1 NDUFS1 NDUFS4
8 response to electrical stimulus GO:0051602 9.57 MT-CO1 OPA1
9 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.56 MT-CO1 MT-CO3
10 ATP synthesis coupled electron transport GO:0042773 9.56 MT-ND4 MT-ND4L MT-ND5 NDUFS1
11 respiratory electron transport chain GO:0022904 9.54 MT-CO1 MT-CO3 MT-CYB
12 response to copper ion GO:0046688 9.52 MT-CO1 MT-CYB
13 response to hyperoxia GO:0055093 9.51 MT-ATP6 MT-CYB
14 electron transport coupled proton transport GO:0015990 9.5 MT-CO1 MT-CYB MT-ND4
15 mitochondrial ATP synthesis coupled electron transport GO:0042775 9.49 NDUFS2 NDUFV1
16 mitochondrial respiratory chain complex I assembly GO:0032981 9.4 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6
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 electron transfer activity GO:0009055 9.72 MT-CO1 MT-CO3 MT-CYB NDUFS1 NDUFS2
3 oxidoreductase activity, acting on NAD(P)H GO:0016651 9.65 MT-ND4L NDUFS1 NDUFS2 NDUFS4 NDUFV1
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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