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MCID: HRD217
MIFTS: 36

Hereditary Optic Neuropathy

Categories: Eye diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Hereditary Optic Neuropathy

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MalaCards integrated aliases for Hereditary Optic Neuropathy:

Name: Hereditary Optic Neuropathy 58 29

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases Neuronal diseases
See all MalaCards categories (disease lists)
Orphanet: 58  
Rare eye diseases


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Orphanet 58 ORPHA98671
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Summaries for Hereditary Optic Neuropathy

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MalaCards based summary : Hereditary Optic Neuropathy is related to leber optic atrophy and dystonia and leber plus disease. An important gene associated with Hereditary Optic Neuropathy is MT-ND6 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 6), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Curcumin and Coenzyme Q10 have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and retina.

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Related Diseases for Hereditary Optic Neuropathy

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Diseases in the Hereditary Optic Neuropathy family:

Autoimmune/inflammatory Optic Neuropathy

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

(show top 50) (show all 238)
# Related Disease Score Top Affiliating Genes
1 leber optic atrophy and dystonia 33.7 MT-ND6 MT-ND4 MT-ND1
2 leber plus disease 31.6 MT-ND6 MT-ND4 MT-ND1 MT-CYB
3 scotoma 31.0 MT-ND6 MT-ND4
4 3-methylglutaconic aciduria, type iii 30.9 MT-ND6 MT-ND4 MT-ND1 MT-CYB MT-ATP6
5 optic neuritis 30.8 MT-ND6 MT-ND4
6 mitochondrial complex i deficiency, nuclear type 1 30.4 MT-ND6 MT-ND4L MT-ND4 MT-ND2 MT-ND1 MT-ATP6
7 deafness, nonsyndromic sensorineural, mitochondrial 30.2 MT-ND4 MT-ND1
8 toxic optic neuropathy 30.1 MT-ND6 MT-ND4
9 leber optic atrophy 30.1 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
10 optic atrophy 4 30.1 MT-ND6 MT-ND4
11 mitochondrial disorders 29.8 MT-ND6 MT-ND5 MT-ND1 MT-ATP6
12 wolff-parkinson-white syndrome 29.7 MT-ND5 MT-ND4
13 dystonia 29.4 MT-ND6 MT-ND4 MT-ND1 MT-CYB MT-CO3
14 early myoclonic encephalopathy 28.8 MT-ND6 MT-ND5 MT-ND4 MT-ATP6
15 sensorineural hearing loss 28.7 MT-ND6 MT-CYB MT-ATP6
16 peripheral nervous system disease 28.7 MT-ND6 MT-ND4 MT-ND1 MT-CYB MT-ATP6
17 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 28.6 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
18 chronic progressive external ophthalmoplegia 28.5 MT-ND6 MT-ND4 MT-ND1 MT-CYB MT-ATP6
19 neuropathy 28.2 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
20 optic nerve disease 28.2 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
21 hypertrophic cardiomyopathy 28.1 MT-ND1 MT-CYB MT-CO3 MT-ATP6
22 lactic acidosis 27.3 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CYB MT-CO3
23 myopathy 27.1 MT-ND6 MT-ND5 MT-ND4 MT-ND2 MT-ND1 MT-CYB
24 mitochondrial metabolism disease 26.9 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
25 leigh syndrome 26.7 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
26 kearns-sayre syndrome 26.4 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
27 mitochondrial myopathy 26.4 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
28 mitochondrial encephalomyopathy 26.0 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
29 leber hereditary optic neuropathy with demyelinating disease of cns 12.6
30 syndromic hereditary optic neuropathy 12.4
31 optic atrophy 1 11.6
32 mitochondrial complex i deficiency, mitochondrial type 1 11.6
33 mitochondrial complex iii deficiency, nuclear type 1 11.2
34 mitochondrial complex iv deficiency 11.2
35 mitochondrial complex i deficiency, nuclear type 12 11.2
36 mitochondrial complex i deficiency, nuclear type 30 11.2
37 mitochondrial complex v deficiency, nuclear type 1 11.2
38 mitochondrial complex i deficiency, nuclear type 2 11.2
39 mitochondrial complex i deficiency, nuclear type 4 11.2
40 mitochondrial complex i deficiency, nuclear type 6 11.2
41 mitochondrial complex i deficiency, nuclear type 7 11.2
42 mitochondrial complex i deficiency, nuclear type 8 11.2
43 mitochondrial complex i deficiency, nuclear type 9 11.2
44 mitochondrial complex i deficiency, nuclear type 10 11.2
45 mitochondrial complex i deficiency, nuclear type 11 11.2
46 mitochondrial complex i deficiency, nuclear type 13 11.2
47 mitochondrial complex i deficiency, nuclear type 14 11.2
48 mitochondrial complex i deficiency, nuclear type 15 11.2
49 mitochondrial complex i deficiency, nuclear type 16 11.2
50 mitochondrial complex i deficiency, nuclear type 17 11.2

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



Diseases related to Hereditary Optic Neuropathy
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Symptoms & Phenotypes for Hereditary Optic Neuropathy

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Drugs & Therapeutics for Hereditary Optic Neuropathy

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

(show all 38)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Curcumin Approved, Experimental, Investigational Phase 3 458-37-7 969516
2
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
3 Antirheumatic Agents Phase 3
4 Analgesics Phase 3
5 Analgesics, Non-Narcotic Phase 3
6 Anti-Inflammatory Agents Phase 3
7 Anti-Inflammatory Agents, Non-Steroidal Phase 3
8 Anti-Infective Agents, Local Phase 3
9 Ubiquinone Phase 3
10 Trace Elements Phase 3
11 Micronutrients Phase 3
12 Nutrients Phase 3
13 Pharmaceutical Solutions Phase 3
14 Anesthetics Phase 3
15
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
16
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
17
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
18 Immunologic Factors Phase 2
19 Anti-Infective Agents Phase 2
20 Immunosuppressive Agents Phase 2
21 Dermatologic Agents Phase 2
22 Antifungal Agents Phase 2
23 Cyclosporins Phase 2
24 Calcineurin Inhibitors Phase 2
25 Ophthalmic Solutions Phase 2
26 Neuroprotective Agents Phase 1
27
Triamcinolone Approved, Vet_approved 124-94-7 31307
28
Tocopherol Approved, Investigational 1406-66-2, 54-28-4 14986
29
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
30 Tocotrienol Investigational 6829-55-6
31 Triamcinolone diacetate
32 triamcinolone acetonide
33 Triamcinolone hexacetonide
34 Insulin, Globin Zinc
35 insulin
36 Tocotrienols
37 Tocopherols
38 Tocotrienol, alpha

Interventional clinical trials:

(show all 34)
# Name Status NCT ID Phase Drugs
1 External Natural History Controlled, Open-Label Intervention Study to Assess the Efficacy and Safety of Long-Term Treatment With Raxone® in Leber's Hereditary Optic Neuropathy (LHON) Active, not 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 Randomized, Double-Masked, Sham-Controlled Clinical Trial to Evaluate the Efficacy of a Single Intravitreal Injection of GS010 in Subjects Affected for More Than 6 Months and To 12 Months by LHON Due to the G11778A Mutation in the ND4 Gene Completed NCT02652780 Phase 3
4 A Randomized, Double-Masked, Sham-Controlled Clinical Trial to Evaluate the Efficacy of a Single Intravitreal Injection of GS010 in Subjects Affected for 6 Months or Less by LHON Due to the G11778A Mutation in the Mitochondrial ND4 Gene Completed NCT02652767 Phase 3
5 A Randomized, Double-blinded, Placebo-controlled Trial of Idebenone in the Prevention of Episodic Migraine Recruiting NCT04151472 Phase 3 Placebo;90mg Idebenone;270mg Idebenone
6 Efficacy and Safety of Bilateral Intravitreal Injection of GS010: A Randomized, Double-Masked, Placebo-Controlled Trial in Subjects Affected With G11778A ND4 Leber Hereditary Optic Neuropathy for Up to One Year Active, not recruiting NCT03293524 Phase 3 Placebo
7 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
8 Study With Idebenone in Patients With Chronic Vision Loss Due to Leber's Hereditary Optic Neuropathy (LHON) Withdrawn NCT01495715 Phase 3 Idebenone;Placebo
9 Trial of Cyclosporine in the Acute Phase of Leber Hereditary Optic Neuropathy Unknown status NCT02176733 Phase 2 cyclosporine
10 A Double-Blind, Randomised, Placebo-Controlled Study of the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Patients With Leber's Hereditary Optic Neuropathy Completed NCT00747487 Phase 2 Idebenone;Placebo
11 A Prospective, Randomized, Double-Masked, Vehicle Controlled, Phase 2 Clinical Study to Evaluate the Safety, Tolerability and Efficacy of Elamipretide (MTP-131) Topical Ophthalmic Solution in Subjects With Leber's Hereditary Optic Neuropathy (LHON) Completed NCT02693119 Phase 2 elamipretide (MTP-131) 1% topical ophthalmic solution;Vehicle topical ophthalmic solution
12 An Open-Label, Dose-Escalating Study to Assess the Safety, Tolerability, Efficacy, Pharmacokinetics and Pharmacodynamics of Cysteamine Bitartrate Delayed-release Capsules (RP103) for Treatment of Children With Inherited Mitochondrial Disease Completed NCT02023866 Phase 2 Cysteamine Bitartrate
13 An Exploratory, Double-blind, Randomized, Placebo-controlled, Single-center, Two-way Cross-over Study With KH176 in Patients With the Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation and Clinical Signs of Mitochondrial Disease Completed NCT02909400 Phase 2 KH176;placebo
14 An Open Label Dose Escalation Clinical Trial to Evaluate the Safety and the Tolerability of GS010 (rAAV2/2-ND4) in Patients With Leber Hereditary Optic Neuropathy Due to Mutations in the Mitochondrial NADH Dehydrogenase 4 Gene Active, not recruiting NCT02064569 Phase 1, Phase 2
15 Near-infrared Light-emitting Diode (NIR-LED) Therapy for Leber's Hereditary Optic Neuropathy (LHON) Terminated NCT01389817 Phase 1, Phase 2
16 A Long-Term Open-Label Extension Study of RP103-MITO-001 to Assess the Safety, Tolerability and Efficacy of Cysteamine Bitartrate Delayed-release Capsules (RP103) for Treatment of Children With Inherited Mitochondrial Disease Terminated NCT02473445 Phase 2 Cysteamine Bitartrate
17 A Phase I, Randomized, Double Blind, Placebo-controlled, Dose-escalating Clinical Trial With KH176 Completed NCT02544217 Phase 1 KH176;placebo
18 A Phase I Open-Label, Dose Escalation Trial of QPI-1007 Delivered by a Single Intravitreal Injection to Patients With Optic Nerve Atrophy (Stratum I) and Acute Non-Arteritic Anterior Ischemic Optic Neuropathy (NAION) (Stratum II) Completed NCT01064505 Phase 1 QPI-1007 at various doses
19 Open-Trial of EPI-743 for Adults With Tourette Syndrome Completed NCT01719523 Phase 1 EPI-743
20 An Open-label Dose Escalation Study of an Adeno-associated Virus Vector (scAAV2-P1ND4v2) for Gene Therapy of Leber's Hereditary Optic Neuropathy (LHON) Caused by the G11778A Mutation in Mitochondrial DNA Recruiting NCT02161380 Phase 1 injection of scAAV2-P1ND4v2 1.18x10e9 vg (Low),;injection of scAAV2-P1ND4v2 5.81 X10e9 vg (Med);injection of scAAV2-P1ND4v2 2.4 X10e10vg (High);injection of scAAV2-P1ND4v2 1.0 X10e11vg (Higher)
21 A Single Visit, Observational, Follow-up Study of Patients With Leber's Hereditary Optic Neuropathy Following Participation in SNT-II-003 Trial Completed NCT01421381
22 Safety and Efficacy Study of a Single Intravitreal Injection of rAAV2-ND4 Treatment of Leber Hereditary Optic Neuropathy Completed NCT01267422 rAAV2-ND4
23 Leber Hereditary Optic Neuropathy (LHON) Historical Case Record Survey Completed NCT01892943
24 Historical Case Record Survey of Visual Acuity Data From Patients With Leber's Hereditary Optic Neuropathy (LHON) Completed NCT02796274
25 A Non-interventional Study of Clinical Experience in Patients Prescribed Raxone® for the Treatment of Leber's Hereditary Optic Neuropathy (LHON) Recruiting NCT02771379 Idebenone
26 Observational Registry Study of Leber Hereditary Optic Neuropathy (LHON) Affected Patients Recruiting NCT03295071
27 Long-term Follow-up of ND4 LHON Subjects Treated With GS010 Ocular Gene Therapy in the RESCUE or REVERSE Phase III Clinical Trials Recruiting NCT03406104
28 Efficacy Study of Gene Therapy for The Treatment of Acute LHON Onset Within Three Months Recruiting NCT03428178 rAAV2-ND4
29 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
30 Bone Marrow Derived Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541
31 Photobiomodulation & Ketogenic Diet for Treatment of Mid-periphery Retinal Disorders (Diabetic Retinopathy, Dry AMD, Hard Drusen Formation) for Alzheimer's Disease Prevention Recruiting NCT03859245
32 Expanded Access Program for Idebenone in Patients With Leber's Hereditary Optic Neuropathy Who Completed the LEROS Study Available NCT04381091 Idebenone 150 MG Oral Tablet
33 EAP Single Patient: Safety of Bilateral Intravitreal Injection of GS010 in a Single Subject Affected With G11778A ND4 Leber Hereditary Optic Neuropathy Available NCT03672968
34 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 Hereditary Optic Neuropathy

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Genetic Tests for Hereditary Optic Neuropathy

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Genetic tests related to Hereditary Optic Neuropathy:

# Genetic test Affiliating Genes
1 Hereditary Optic Neuropathy 29
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Anatomical Context for Hereditary Optic Neuropathy

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MalaCards organs/tissues related to Hereditary Optic Neuropathy:

40
Eye, Brain, Retina, Testes, Bone, Skeletal Muscle, Spinal Cord
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Publications for Hereditary Optic Neuropathy

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Articles related to Hereditary Optic Neuropathy:

(show top 50) (show all 1491)
# Title Authors PMID Year
1
Optic nerve atrophy and whole and regional brain atrophy in Leber's hereditary optic neuropathy with multiple sclerosis-like disease with m.11778G>A mutation. 61
32387972 2020
2
PRICKLE3 linked to ATPase biogenesis manifested Leber's hereditary optic neuropathy. 61
32516135 2020
3
Emerging model systems and treatment approaches for Leber's hereditary optic neuropathy: Challenges and opportunities. 61
32105823 2020
4
Neuroanatomical Changes in Leber's Hereditary Optic Neuropathy: Clinical Application of 7T MRI Submillimeter Morphometry. 61
32526981 2020
5
Idebenone Has Distinct Effects on Mitochondrial Respiration in Cortical Astrocytes Compared to Cortical Neurons Due to Differential NQO1 Activity. 61
32350039 2020
6
Mitochondrial transport mediates survival of retinal ganglion cells in affected LHON patients. 61
32277753 2020
7
Subjective and polysomnographic evaluation of sleep in mitochondrial optic neuropathies. 61
32524698 2020
8
Genotypic and phenotypic characteristics of Korean children with childhood-onset Leber's hereditary optic neuropathy. 61
32506279 2020
9
Pupil fields in patients with Leber hereditary optic neuropathy. 61
32518975 2020
10
Recurrent Bilateral Myelin Oligodendrocyte Glycoprotein Antibody Optic Neuritis in a Leber Hereditary Optic Neuropathy Carrier. 61
31842145 2020
11
Treatment of Leber's hereditary optic neuropathy: An overview of recent developments. 61
32552047 2020
12
The ying and yang of idebenone: Not too little, not too much - cell death in NQO1 deficient cells and the mouse retina. 61
31775023 2020
13
Testosterone increases apoptotic cell death and decreases mitophagy in Leber's hereditary optic neuropathy cells. 61
32157656 2020
14
Leber's hereditary optic neuropathy following unilateral painful optic neuritis: a case report. 61
32423393 2020
15
Demographics of a Large International Population of Patients Affected by Leber's Hereditary Optic Neuropathy. 61
31932089 2020
16
A Single-Arm, Prospective, Exploratory Study to Preliminarily Test Effectiveness and Safety of Skin Electrical Stimulation for Leber Hereditary Optic Neuropathy. 61
32384676 2020
17
Diagnosis and management of three optic neuropathies: a national survey. 61
32377824 2020
18
Increased Protein S-Glutathionylation in Leber's Hereditary Optic Neuropathy (LHON). 61
32344771 2020
19
A Rare Mutation Associated With Probable Late-Onset Leber's Hereditary Optic Neuropathy. 61
32355048 2020
20
Factors determining the early beneficial effect of unilateral gene therapy in Leber's hereditary optic neuropathy patients carrying variant m.11778G>A. 61
32259370 2020
21
The Evaluation of Optic Nerves Using 7 Tesla "Silent" Zero Echo Time Imaging in Patients with Leber's Hereditary Optic Neuropathy with or without Idebenone Treatment. 61
32295018 2020
22
The Relevance of Oxidative Stress in the Pathogenesis and Therapy of Retinal Dystrophies. 61
32340220 2020
23
Adult onset tubulo-interstitial nephropathy in MT-ND5-related phenotypes. 61
31713837 2020
24
Novel Mutations of mtDNA m.14568G>A/m.14568C>T in MT-ND6 and m.7299A>G in MT-CO1: Evidence of Pathogenicity in Leber Hereditary Optic Neuropathy. 61
32358433 2020
25
Pathophysiology of Conversion to Symptomatic Leber Hereditary Optic Neuropathy and Therapeutic Implications: a Review. 61
32296973 2020
26
The Slowly Progressive, Bilaterally Simultaneous Variety of Leber Hereditary Optic Neuropathy. 61
32219779 2020
27
Leber Hereditary Optic Neuropathy: Case Report and Literature Review. 61
32454526 2020
28
Mutation m.3395A > G in MT-ND1 leads to variable pathologic manifestations. 61
32011699 2020
29
[Clinical practice guidelines for Leber's hereditary optic neuropathy]. 61
32128745 2020
30
Clinical and Optic Disc Characteristics of Patients Showing Visual Recovery in Leber Hereditary Optic Neuropathy. 61
31609832 2020
31
Author Correction: Propagation and Selectivity of Axonal Loss in Leber Hereditary Optic Neuropathy. 61
32157129 2020
32
Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6. 61
31776719 2020
33
Multilocus Mitochondrial Mutations Do Not Directly Affect the Efficacy of Gene Therapy for Leber Hereditary Optic Neuropathy. 61
31246675 2020
34
Inherited Metabolic Diseases and Cardiac Pathology in Adults: Diagnosis and Prevalence in a CardioMetabo Study. 61
32143453 2020
35
Therapeutic Effects of Idebenone on Leber Hereditary Optic Neuropathy. 61
32111141 2020
36
Clinical Features of Chinese Sporadic Leber Hereditary Optic Neuropathy Caused by Rare Primary mtDNA Mutations. 61
32045392 2020
37
Seven-Year Follow-up of Gene Therapy for Leber's Hereditary Optic Neuropathy. 61
32284191 2020
38
Re: Parisi et al.: Functional changes of retinal ganglion cells and visual pathways in patients with chronic Leber's hereditary optic neuropathy during one year of follow-up (Ophthalmology. 2019;126:1033-1044). 61
31973837 2020
39
Factors associated with rapid improvement in visual acuity in patients with Leber's hereditary optic neuropathy after gene therapy. 61
32096343 2020
40
Leber hereditary optic neuropathy: 41-year interval between fellow eye involvement. 61
31712002 2020
41
Mitochondrial tRNAAla 5601C>T variant may affect the clinical expression of the LHON‑related ND4 11778G>A mutation in a family. 61
31939618 2020
42
Corrigendum to: Mitophagy activation repairs Leber's hereditary optic neuropathy-associated mitochondrial dysfunction and improves cell survival. 61
31814008 2020
43
Foveal pit morphological changes in asymptomatic carriers of the G11778A mutation with Leber's hereditary optic neuropathy. 61
32420224 2020
44
Leber's Hereditary Optic Neuropathy - Reply Letter to the Editor. 61
32292864 2020
45
Different damage patterns of retinal nerve fiber layer and ganglion cell-inner plexiform layer between early glaucoma and non-glaucomatous optic neuropathy. 61
32566499 2020
46
Analysis of secondary mtDNA mutations in families with Leber's hereditary optic neuropathy: Four novel variants and their association with clinical presentation. 61
31743754 2020
47
Electrophysiological and Structural Changes in Chinese Patients with LHON. 61
32318281 2020
48
Mitochondrial DNA 13513G>A mutation presenting with Leber's hereditary optic neuropathy. 61
31368143 2019
49
Emerging Treatments for Leber's Hereditary Optic Neuropathy and Other Genetic Causes of Visual Loss. 61
31847044 2019
50
Novel Mitochondrial Translation Optimizer-1 Mutations as a Cause of Hereditary Optic Neuropathy. 61
31842146 2019
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Variations for Hereditary Optic Neuropathy

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Expression for Hereditary Optic Neuropathy

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

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Pathways related to Hereditary Optic Neuropathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism 65
Show member pathways
 13.56 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
2
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. 65
Show member pathways
 12.67 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
3
Parkinson disease 36
Show member pathways
 12.24 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
4
GABAergic synapse 36
Show member pathways
 12.15 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
5
Cardiac muscle contraction 36
11.26 MT-CYB MT-CO3
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GO Terms for Hereditary Optic Neuropathy

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.06 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
2 integral component of membrane GO:0016021 10.02 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
3 mitochondrion GO:0005739 9.91 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
4 mitochondrial membrane GO:0031966 9.62 MT-ND6 MT-ND4L MT-ND4 MT-ND1
5 mitochondrial inner membrane GO:0005743 9.56 MT-ND6 MT-ND5 MT-ND4 MT-ND2 MT-ND1 MT-CYB
6 mitochondrial respiratory chain complex I GO:0005747 9.55 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
7 respiratory chain GO:0070469 9.17 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.63 MT-ND5 MT-ND4 MT-CYB
2 oxidation-reduction process GO:0055114 9.56 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
3 mitochondrial respiratory chain complex I assembly GO:0032981 9.55 MT-ND6 MT-ND5 MT-ND4 MT-ND2 MT-ND1
4 aerobic respiration GO:0009060 9.54 MT-ND4 MT-ND1 MT-CO3
5 response to hydrogen peroxide GO:0042542 9.51 MT-ND6 MT-ND5
6 ATP synthesis coupled electron transport GO:0042773 9.5 MT-ND5 MT-ND4L MT-ND4
7 response to nicotine GO:0035094 9.49 MT-ND6 MT-ND4
8 response to organonitrogen compound GO:0010243 9.48 MT-ND5 MT-CYB
9 respiratory electron transport chain GO:0022904 9.43 MT-CYB MT-CO3
10 electron transport coupled proton transport GO:0015990 9.43 MT-ND5 MT-ND4 MT-CYB
11 response to hyperoxia GO:0055093 9.4 MT-CYB MT-ATP6
12 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.1 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.46 MT-ND4L MT-ND2 MT-CYB MT-CO3
2 electron transfer activity GO:0009055 9.26 MT-CYB MT-CO3
3 NADH dehydrogenase activity GO:0003954 9.13 MT-ND5 MT-ND4 MT-ND1
4 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.1 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
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Sources for Hereditary Optic Neuropathy

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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