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MCID: HRD217
MIFTS: 34

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

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 scotoma. 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 Idebenone 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 234)
# Related Disease Score Top Affiliating Genes
1 leber optic atrophy and dystonia 33.7 MT-ND6 MT-ND4 MT-ND1
2 scotoma 31.0 MT-ND6 MT-ND4
3 3-methylglutaconic aciduria, type iii 31.0 MT-ND6 MT-ND4 MT-ND1 MT-CYB MT-ATP6
4 optic neuritis 30.8 MT-ND6 MT-ND4 MT-ND1
5 mitochondrial complex i deficiency, nuclear type 1 30.7 MT-ND6 MT-ND4L MT-ND4 MT-ND2 MT-ND1 MT-ATP6
6 dystonia 30.7 MT-ND6 MT-ND4 MT-ND1
7 mitochondrial disorders 30.1 MT-ND6 MT-ND5 MT-ND1 MT-ATP6
8 toxic optic neuropathy 30.1 MT-ND6 MT-ND4
9 leber optic atrophy 30.0 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
10 wolff-parkinson-white syndrome 29.7 MT-ND5 MT-ND4
11 peripheral nervous system disease 29.7 MT-ND6 MT-ND4 MT-ND1 MT-ATP6
12 early myoclonic encephalopathy 29.1 MT-ND6 MT-ND5 MT-ND4 MT-ATP6
13 chronic progressive external ophthalmoplegia 29.0 MT-ND6 MT-ND4 MT-CYB MT-ATP6
14 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 28.6 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
15 neuropathy 28.2 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
16 optic nerve disease 28.2 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
17 retinitis pigmentosa 27.4 MT-ND6 MT-ND4 MT-ND1 MT-CYB MT-CO3 MT-ATP6
18 lactic acidosis 27.3 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CYB MT-CO3
19 kearns-sayre syndrome 26.9 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND1 MT-CYB
20 mitochondrial metabolism disease 26.9 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
21 leigh syndrome 26.6 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
22 mitochondrial myopathy 26.3 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
23 mitochondrial encephalomyopathy 26.0 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
24 syndromic hereditary optic neuropathy 12.3
25 optic atrophy 1 11.6
26 leber congenital amaurosis 11.6
27 mitochondrial complex i deficiency, mitochondrial type 1 11.6
28 mitochondrial complex iii deficiency, nuclear type 1 11.3
29 mitochondrial complex iv deficiency 11.3
30 mitochondrial complex i deficiency, nuclear type 12 11.3
31 mitochondrial complex i deficiency, nuclear type 30 11.3
32 mitochondrial complex v deficiency, nuclear type 1 11.3
33 mitochondrial complex i deficiency, nuclear type 2 11.3
34 mitochondrial complex i deficiency, nuclear type 4 11.3
35 mitochondrial complex i deficiency, nuclear type 6 11.3
36 mitochondrial complex i deficiency, nuclear type 7 11.3
37 mitochondrial complex i deficiency, nuclear type 8 11.3
38 mitochondrial complex i deficiency, nuclear type 9 11.3
39 mitochondrial complex i deficiency, nuclear type 10 11.3
40 mitochondrial complex i deficiency, nuclear type 11 11.3
41 mitochondrial complex i deficiency, nuclear type 13 11.3
42 mitochondrial complex i deficiency, nuclear type 14 11.3
43 mitochondrial complex i deficiency, nuclear type 15 11.3
44 mitochondrial complex i deficiency, nuclear type 16 11.3
45 mitochondrial complex i deficiency, nuclear type 17 11.3
46 mitochondrial complex i deficiency, nuclear type 18 11.3
47 mitochondrial complex i deficiency, nuclear type 19 11.3
48 mitochondrial complex i deficiency, nuclear type 21 11.3
49 mitochondrial complex i deficiency, nuclear type 22 11.3
50 mitochondrial complex i deficiency, nuclear type 23 11.3

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 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Curcumin Approved, Experimental, Investigational Phase 3 458-37-7 969516
2
Idebenone Approved, Investigational Phase 3 58186-27-9
3 Antirheumatic Agents Phase 3
4 Anti-Inflammatory Agents Phase 3
5 Analgesics, Non-Narcotic Phase 3
6 Anti-Inflammatory Agents, Non-Steroidal Phase 3
7 Analgesics Phase 3
8 Pharmaceutical Solutions Phase 3
9 Central Nervous System Depressants Phase 3
10 Anesthetics Phase 3
11 Anti-Infective Agents, Local Phase 3
12 Antioxidants Phase 3
13 Protective Agents Phase 3
14
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
15
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
16 Anti-Infective Agents Phase 2
17 Antifungal Agents Phase 2
18 Dermatologic Agents Phase 2
19 Cyclosporins Phase 2
20 Immunosuppressive Agents Phase 2
21 Calcineurin Inhibitors Phase 2
22 Immunologic Factors Phase 2
23 Ophthalmic Solutions Phase 2
24 Neuroprotective Agents Phase 1
25
Triamcinolone Approved, Vet_approved 124-94-7 31307
26
Tocopherol Approved, Investigational 1406-66-2, 54-28-4 14986
27
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
28 Tocotrienol Investigational 6829-55-6
29 Triamcinolone hexacetonide
30 triamcinolone acetonide
31 Triamcinolone diacetate
32 insulin
33 Insulin, Globin Zinc
34 Tocotrienol, alpha
35 Tocopherols
36 Tocotrienols

Interventional clinical trials:

(show all 33)
# 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 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
5 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
6 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 Active, not recruiting NCT02652767 Phase 3
7 A Randomized, Double-blinded, Placebo-controlled Trial of Idebenone in the Prevention of Episodic Migraine Not yet recruiting NCT04151472 Phase 3 Placebo;90mg Idebenone;270mg Idebenone
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 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
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 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
14 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) Active, not recruiting NCT02693119 Phase 2 elamipretide (MTP-131) 1% topical ophthalmic solution;Vehicle topical ophthalmic solution
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 EAP Single Patient: Safety of Bilateral Intravitreal Injection of GS010 in a Single Subject Affected With G11778A ND4 Leber Hereditary Optic Neuropathy Available NCT03672968
33 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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Anatomical Context for Hereditary Optic Neuropathy

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MalaCards organs/tissues related to Hereditary Optic Neuropathy:

40
Eye, Brain, Retina, Thyroid, Bone, Testes, Heart
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Publications for Hereditary Optic Neuropathy

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Articles related to Hereditary Optic Neuropathy:

(show top 50) (show all 1456)
# Title Authors PMID Year
1
Clinical and Optic Disc Characteristics of Patients Showing Visual Recovery in Leber Hereditary Optic Neuropathy. 61
31609832 2020
2
Multilocus Mitochondrial Mutations Do Not Directly Affect the Efficacy of Gene Therapy for Leber Hereditary Optic Neuropathy. 61
31246675 2020
3
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
4
Mutation m.3395A > G in MT-ND1 leads to variable pathologic manifestations. 61
32011699 2020
5
Mitochondrial tRNAAla 5601C>T variant may affect the clinical expression of the LHON‑related ND4 11778G>A mutation in a family. 61
31939618 2020
6
Corrigendum to: Mitophagy activation repairs Leber's hereditary optic neuropathy-associated mitochondrial dysfunction and improves cell survival. 61
31814008 2020
7
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
8
Mitochondrial DNA 13513G>A mutation presenting with Leber's hereditary optic neuropathy. 61
31368143 2019
9
Leber's Hereditary Optic Neuropathy as a Promising Disease for Gene Therapy Development. 61
31605306 2019
10
Mitochondrial DNA Variation of Leber's Hereditary Optic Neuropathy in Western Siberia. 61
31817256 2019
11
Emerging Treatments for Leber's Hereditary Optic Neuropathy and Other Genetic Causes of Visual Loss. 61
31847044 2019
12
Novel Mitochondrial Translation Optimizer-1 Mutations as a Cause of Hereditary Optic Neuropathy. 61
31842146 2019
13
What can a comparative genomics approach tell us about the pathogenicity of mtDNA mutations in human populations? 61
31700535 2019
14
Choroidal thickness and the retinal ganglion cell complex in chronic Leber's hereditary optic neuropathy: a prospective study using swept-source optical coherence tomography. 61
31804625 2019
15
Visual function in chronic Leber's hereditary optic neuropathy during idebenone treatment initiated 5 to 50 years after onset. 61
31482278 2019
16
Functional MRI study in a case of Charles Bonnet syndrome related to LHON. 61
31888524 2019
17
Recurrent Bilateral Myelin Oligodendrocyte Glycoprotein Antibody Optic Neuritis in a Leber Hereditary Optic Neuropathy Carrier. 61
31842145 2019
18
Performance of the MLPA technique for detecting common mutations in Leber hereditary optic neuropathy. 61
31566038 2019
19
Mitochondrial m.13513G>A Point Mutation in ND5 in a 16-Year-Old Man with Leber Hereditary Optic Neuropathy Detected by Next-Generation Sequencing. 61
31687263 2019
20
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light. 61
31379041 2019
21
The ying and yang of idebenone: Not too little, not too much - cell death in NQO1 deficient cells and the mouse retina. 61
31775023 2019
22
A Brief History of Mitochondrial Pathologies. 61
31718067 2019
23
Teaching NeuroImages: Substantia nigra T2 hyperintensities in a man with Leber hereditary optic neuropathy. 61
31685712 2019
24
Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6. 61
31776719 2019
25
Demographics of a Large International Population of Patients Affected by Leber's Hereditary Optic Neuropathy. 61
31932089 2019
26
[Leber's Hereditary Optic Neuropathy]. 61
31639883 2019
27
Adult onset tubulo-interstitial nephropathy in MT-ND5-related phenotypes. 61
31713837 2019
28
Analysis of BNIP3 and BNIP3L/Nix expression in cybrid cell lines harboring two LHON-associated mutations. 61
31584786 2019
29
[LHON-Treatment option despite poor initial visual acuity?] 61
30887114 2019
30
[Value of Optical Coherence Tomography Angiography in Neuroophthalmology]. 61
31509884 2019
31
Toxic-Metabolic and Hereditary Optic Neuropathies. 61
31584537 2019
32
Improving the visual outcome in Leber's hereditary optic neuropathy: Framework for the future. 61
31528757 2019
33
Postoperative amaurosis after ethmoidectomy revealing Leber's hereditary optic neuropathy. 61
31387800 2019
34
Leber hereditary optic neuropathy: a 41-year interval between fellow eye involvement. 61
31712002 2019
35
Mitochondria in neuroinflammation - Multiple sclerosis (MS), leber hereditary optic neuropathy (LHON) and LHON-MS. 61
28668384 2019
36
Prognostic factors for visual acuity in patients with Leber's hereditary optic neuropathy after rAAV2-ND4 gene therapy. 61
30968497 2019
37
Personalized pediatric ophthalmology: a case report. 61
31129100 2019
38
The challenge of an adequate outcome in trials for genetic eye disease such as Leber hereditary optic neuropathy. 61
31397049 2019
39
Functional Changes of Retinal Ganglion Cells and Visual Pathways in Patients with Chronic Leber's Hereditary Optic Neuropathy during One Year of Follow-up. 61
30822445 2019
40
CIRCINATE PARTITION-LIKE FINDINGS ON CONE MOSAIC IMAGED BY ADAPTIVE OPTICS SCANNING LASER OPHTHALMOSCOPY IN EYES WITH INNER NUCLEAR LAYER MICROCYSTIC CHANGES. 61
28291071 2019
41
Brain white matter changes in asymptomatic carriers of Leber's hereditary optic neuropathy. 61
30911824 2019
42
Infantile Presentation of Leber Hereditary Optic Neuropathy "Plus" Disease. 61
30829945 2019
43
Optical Coherence Tomography of the Retinal Ganglion Cell Complex in Leber's Hereditary Optic Neuropathy and Dominant Optic Atrophy. 61
30649972 2019
44
Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation. 61
31226990 2019
45
Glutamate Stimulation Dysregulates AMPA Receptors-Induced Signal Transduction Pathway in Leber's Inherited Optic Neuropathy Patient-Specific hiPSC-Derived Retinal Ganglion Cells. 61
31234430 2019
46
Contribution of mitochondrial ND1 3394T>C mutation to the phenotypic manifestation of Leber's hereditary optic neuropathy. 61
30597069 2019
47
The m.11778 A > G variant associated with the coexistence of Leber's hereditary optic neuropathy and multiple sclerosis-like illness dysregulates the metabolic interplay between mitochondrial oxidative phosphorylation and glycolysis. 61
29890302 2019
48
miR-181a/b downregulation exerts a protective action on mitochondrial disease models. 61
30979712 2019
49
Toxic medications in Leber's hereditary optic neuropathy. 61
30081212 2019
50
Genetic analysis in a cohort of patients with hereditary optic neuropathies in Southwest of China. 61
30201499 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
 13.46 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
 12.53 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
3
GABAergic synapse 36
Show member pathways
 11.95 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
4
Cardiac muscle contraction 36
11.19 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 9.97 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
3 mitochondrion GO:0005739 9.85 MT-ND5 MT-ND4 MT-ND1 MT-CYB MT-CO3 MT-ATP6
4 mitochondrial membrane GO:0031966 9.56 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 oxidation-reduction process GO:0055114 9.7 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
2 response to hypoxia GO:0001666 9.63 MT-ND5 MT-ND4 MT-CYB
3 response to hydrogen peroxide GO:0042542 9.51 MT-ND6 MT-ND5
4 aerobic respiration GO:0009060 9.5 MT-ND4 MT-ND1 MT-CO3
5 response to nicotine GO:0035094 9.49 MT-ND6 MT-ND4
6 response to organonitrogen compound GO:0010243 9.48 MT-ND5 MT-CYB
7 respiratory electron transport chain GO:0022904 9.43 MT-CYB MT-CO3
8 ATP synthesis coupled electron transport GO:0042773 9.43 MT-ND5 MT-ND4L MT-ND4
9 response to hyperoxia GO:0055093 9.4 MT-CYB MT-ATP6
10 electron transport coupled proton transport GO:0015990 9.37 MT-ND4 MT-CYB
11 mitochondrial respiratory chain complex I assembly GO:0032981 9.35 MT-ND6 MT-ND5 MT-ND4 MT-ND2 MT-ND1
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 electron transfer activity GO:0009055 9.16 MT-CYB MT-CO3
2 NADH dehydrogenase activity GO:0003954 9.13 MT-ND5 MT-ND4 MT-ND1
3 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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