Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: HRD217
MIFTS: 35

Hereditary Optic Neuropathy

Categories: Eye diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Drugs
Sources

Aliases & Classifications for Hereditary Optic Neuropathy

About this section

MalaCards integrated aliases for Hereditary Optic Neuropathy:

Name: Hereditary Optic Neuropathy 59

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases Neuronal diseases
See all MalaCards categories (disease lists)
Orphanet: 59  
Rare eye diseases


External Ids:

Orphanet 59 ORPHA98671
Sources

Summaries for Hereditary Optic Neuropathy

About this section
MalaCards based summary : Hereditary Optic Neuropathy is related to leber optic atrophy and dystonia and 3-methylglutaconic aciduria, type iii. 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 Idebenone and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and retina.

Sources

Related Diseases for Hereditary Optic Neuropathy

About this section

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 232)
# Related Disease Score Top Affiliating Genes
1 leber optic atrophy and dystonia 33.8 MT-ND6 MT-ND4 MT-ND1
2 3-methylglutaconic aciduria, type iii 32.6 MT-ND6 MT-ND4
3 mitochondrial complex iv deficiency 31.6 MT-ND4 MT-CO3
4 neuropathy 30.4 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-ATP6
5 dystonia 30.1 MT-ND6 MT-ND4 MT-ND1 MT-CYB
6 acute retrobulbar neuritis 30.1 MT-ND4 MT-CYB
7 peripheral nervous system disease 30.1 MT-ND6 MT-ND4
8 optic nerve disease 29.7 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND1 MT-ATP6
9 mitochondrial metabolism disease 29.5 MT-ND6 MT-ND5 MT-ND4 MT-ATP6
10 leber optic atrophy 29.3 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
11 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 29.2 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND1 MT-CO3
12 ataxia and polyneuropathy, adult-onset 28.9 MT-ND4L MT-ND4 MT-CO3 MT-ATP6
13 kearns-sayre syndrome 27.3 MT-ND6 MT-ND5 MT-ND4 MT-ND2 MT-ND1 MT-CYB
14 deafness, nonsyndromic sensorineural, mitochondrial 27.2 MT-ND5 MT-ND4 MT-ND2 MT-ND1 MT-CO3 MT-ATP6
15 retinitis pigmentosa 26.8 MT-ND5 MT-ND4L MT-ND4 MT-CYB MT-CO3 MT-ATP6
16 lactic acidosis 26.7 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CYB MT-CO3
17 mitochondrial myopathy 26.3 MT-ND6 MT-ND5 MT-ND4 MT-ND2 MT-ND1 MT-CYB
18 leigh syndrome 25.9 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
19 syndromic hereditary optic neuropathy 12.3
20 mitochondrial complex i deficiency, nuclear type 1 11.6
21 optic atrophy 1 11.6
22 leber congenital amaurosis 11.6
23 mitochondrial complex i deficiency, mitochondrial type 1 11.6
24 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 11.6
25 mitochondrial complex iii deficiency, nuclear type 1 11.3
26 mitochondrial complex i deficiency, nuclear type 12 11.3
27 mitochondrial complex i deficiency, nuclear type 30 11.3
28 mitochondrial complex v deficiency, nuclear type 1 11.3
29 mitochondrial complex i deficiency, nuclear type 2 11.3
30 mitochondrial complex i deficiency, nuclear type 4 11.3
31 mitochondrial complex i deficiency, nuclear type 6 11.3
32 mitochondrial complex i deficiency, nuclear type 7 11.3
33 mitochondrial complex i deficiency, nuclear type 8 11.3
34 mitochondrial complex i deficiency, nuclear type 9 11.3
35 mitochondrial complex i deficiency, nuclear type 10 11.3
36 mitochondrial complex i deficiency, nuclear type 11 11.3
37 mitochondrial complex i deficiency, nuclear type 13 11.3
38 mitochondrial complex i deficiency, nuclear type 14 11.3
39 mitochondrial complex i deficiency, nuclear type 15 11.3
40 mitochondrial complex i deficiency, nuclear type 16 11.3
41 mitochondrial complex i deficiency, nuclear type 17 11.3
42 mitochondrial complex i deficiency, nuclear type 18 11.3
43 mitochondrial complex i deficiency, nuclear type 19 11.3
44 mitochondrial complex i deficiency, nuclear type 21 11.3
45 mitochondrial complex i deficiency, nuclear type 22 11.3
46 mitochondrial complex i deficiency, nuclear type 23 11.3
47 mitochondrial complex i deficiency, nuclear type 24 11.3
48 mitochondrial complex i deficiency, nuclear type 25 11.3
49 mitochondrial complex i deficiency, nuclear type 26 11.3
50 mitochondrial complex i deficiency, nuclear type 27 11.3

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



Diseases related to Hereditary Optic Neuropathy
Sources

Symptoms & Phenotypes for Hereditary Optic Neuropathy

About this section
Sources

Drugs & Therapeutics for Hereditary Optic Neuropathy

About this section

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

Interventional clinical trials:

(show all 32)
# 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 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 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
10 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
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 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
13 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
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 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
16 A Phase I, Randomized, Double Blind, Placebo-controlled, Dose-escalating Clinical Trial With KH176 Completed NCT02544217 Phase 1 KH176;placebo
17 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
18 Open-Trial of EPI-743 for Adults With Tourette Syndrome Completed NCT01719523 Phase 1 EPI-743
19 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)
20 A Single Visit, Observational, Follow-up Study of Patients With Leber's Hereditary Optic Neuropathy Following Participation in SNT-II-003 Trial Completed NCT01421381
21 Safety and Efficacy Study of a Single Intravitreal Injection of rAAV2-ND4 Treatment of Leber Hereditary Optic Neuropathy Completed NCT01267422 rAAV2-ND4
22 Leber Hereditary Optic Neuropathy (LHON) Historical Case Record Survey Completed NCT01892943
23 Historical Case Record Survey of Visual Acuity Data From Patients With Leber's Hereditary Optic Neuropathy (LHON) Completed NCT02796274
24 A Non-interventional Study of Clinical Experience in Patients Prescribed Raxone® for the Treatment of Leber's Hereditary Optic Neuropathy (LHON) Recruiting NCT02771379 Idebenone
25 Observational Registry Study of Leber Hereditary Optic Neuropathy (LHON) Affected Patients Recruiting NCT03295071
26 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
27 Efficacy Study of Gene Therapy for The Treatment of Acute LHON Onset Within Three Months Recruiting NCT03428178 rAAV2-ND4
28 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
29 Bone Marrow Derived Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541
30 Photobiomodulation & Ketogenic Diet for Treatment of Mid-periphery Retinal Disorders (Diabetic Retinopathy, Dry AMD, Hard Drusen Formation) for Alzheimer's Disease Prevention Recruiting NCT03859245
31 EAP Single Patient: Safety of Bilateral Intravitreal Injection of GS010 in a Single Subject Affected With G11778A ND4 Leber Hereditary Optic Neuropathy 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 Hereditary Optic Neuropathy

Sources

Genetic Tests for Hereditary Optic Neuropathy

About this section
Sources

Anatomical Context for Hereditary Optic Neuropathy

About this section

MalaCards organs/tissues related to Hereditary Optic Neuropathy:

41
Eye, Brain, Retina, Testes, Bone, Skeletal Muscle, Spinal Cord
Sources

Publications for Hereditary Optic Neuropathy

About this section

Articles related to Hereditary Optic Neuropathy:

(show top 50) (show all 1423)
# Title Authors PMID Year
1
The challenge of an adequate outcome in trials for genetic eye disease such as Leber hereditary optic neuropathy. 38
31397049 2019
2
Deciphering exome sequencing data: bringing mitochondrial DNA variants to light. 38
31379041 2019
3
Postoperative amaurosis after ethmoidectomy revealing Leber's hereditary optic neuropathy. 38
31387800 2019
4
Prognostic factors for visual acuity in patients with Leber's hereditary optic neuropathy after rAAV2-ND4 gene therapy. 38
30968497 2019
5
CIRCINATE PARTITION-LIKE FINDINGS ON CONE MOSAIC IMAGED BY ADAPTIVE OPTICS SCANNING LASER OPHTHALMOSCOPY IN EYES WITH INNER NUCLEAR LAYER MICROCYSTIC CHANGES. 38
28291071 2019
6
Functional Changes of Retinal Ganglion Cells and Visual Pathways in Patients with Chronic Leber's Hereditary Optic Neuropathy during One Year of Follow-up. 38
30822445 2019
7
Mitochondrial DNA 13513G>A mutation presenting with Leber's hereditary optic neuropathy. 38
31368143 2019
8
Infantile Presentation of Leber Hereditary Optic Neuropathy "Plus" Disease. 38
30829945 2019
9
Optical Coherence Tomography of the Retinal Ganglion Cell Complex in Leber's Hereditary Optic Neuropathy and Dominant Optic Atrophy. 38
30649972 2019
10
Glutamate Stimulation Dysregulates AMPA Receptors-Induced Signal Transduction Pathway in Leber's Inherited Optic Neuropathy Patient-Specific hiPSC-Derived Retinal Ganglion Cells. 38
31234430 2019
11
Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation. 38
31226990 2019
12
Multilocus Mitochondrial Mutations Do Not Directly Affect the Efficacy of Gene Therapy for Leber Hereditary Optic Neuropathy. 38
31246675 2019
13
Three Cases of Leber's Hereditary Optic Neuropathy with Rapid Increase in Visual Acuity After Gene Therapy. 38
31237206 2019
14
Brain white matter changes in asymptomatic carriers of Leber's hereditary optic neuropathy. 38
30911824 2019
15
miR-181a/b downregulation exerts a protective action on mitochondrial disease models. 38
30979712 2019
16
Toxic medications in Leber's hereditary optic neuropathy. 38
30081212 2019
17
Personalized pediatric ophthalmology: a case report. 38
31129100 2019
18
Contribution of mitochondrial ND1 3394T>C mutation to the phenotypic manifestation of Leber's hereditary optic neuropathy. 38
30597069 2019
19
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. 38
29890302 2019
20
Genetic analysis in a cohort of patients with hereditary optic neuropathies in Southwest of China. 38
30201499 2019
21
Analysis of Inherited Optic Neuropathies. 38
30831606 2019
22
Unilateral cone-rod dysfunction and retinal thinning in a child carrying the 14484 mutation of Leber hereditary optic neuropathy. 38
30447424 2019
23
Propagation and Selectivity of Axonal Loss in Leber Hereditary Optic Neuropathy. 38
31040363 2019
24
Immune Response and Intraocular Inflammation in Patients With Leber Hereditary Optic Neuropathy Treated With Intravitreal Injection of Recombinant Adeno-Associated Virus 2 Carrying the ND4 Gene: A Secondary Analysis of a Phase 1/2 Clinical Trial. 38
30730541 2019
25
Diffusivity and quantitative T1 profile of human visual white matter tracts after retinal ganglion cell damage. 38
31026624 2019
26
Severe sequential visual loss in MS co-diagnosis of Leber's hereditary optic neuropathy. 38
30975365 2019
27
What are the characteristics and progression of visual field defects in patients with Leber hereditary optic neuropathy: a prospective single-centre study in China. 38
30878986 2019
28
Evaluation of Vision-Related Quality of Life in Chinese Patients With Leber Hereditary Optic Neuropathy and the G11778A Mutation. 38
29554000 2019
29
The therapeutic potential of a calorie-restricted ketogenic diet for the management of Leber hereditary optic neuropathy. 38
28994349 2019
30
Repetitive brainstem lesions in mitochondrial DNA 11778G>A mutation of Leber hereditary optic neuropathy. 38
30705974 2019
31
Leber Hereditary Optic Neuropathy in a Mother and Daughter Associated With m.10197G>A Mutation. 38
30199507 2019
32
Charles Bonnet syndrome in Leber's hereditary optic neuropathy. 38
30687896 2019
33
Leber's hereditary optic neuropathy: Shifting our attention to the macula. 38
30505979 2019
34
Bilateral striatal necrosis due to homoplasmic mitochondrial 3697G>A mutation presents with incomplete penetrance and sex bias. 38
30623604 2019
35
Harding's disease: an important MS mimic. 38
30936345 2019
36
Late-onset Leber's hereditary optic neuropathy: the role of environmental factors in hereditary diseases. 38
30898963 2019
37
Hormone replacement therapy in Leber's hereditary optic neuropathy: Accelerated visual recovery in vivo. 38
30899856 2019
38
[LHON-Treatment option despite poor initial visual acuity?] 38
30887114 2019
39
[Raxone in the Leber optical neuropathy: Parisian experience]. 38
30712826 2019
40
New MiniPromoter Ple345 (NEFL) Drives Strong and Specific Expression in Retinal Ganglion Cells of Mouse and Primate Retina. 38
30062914 2019
41
A yeast-based screening assay identifies repurposed drugs that suppress mitochondrial fusion and mtDNA maintenance defects. 38
30658998 2019
42
Treatment strategies for Leber hereditary optic neuropathy. 38
30516647 2019
43
Peripapillary microcirculation in Leber hereditary optic neuropathy. 38
30259673 2019
44
[Mitochondrial diseases]. 38
30643957 2019
45
Myelin Oligodendrocyte Glycoprotein Antibody-Associated Demyelination Comorbid With Leber Hereditary Optic Neuropathy. 38
30422222 2019
46
Leber's hereditary optic neuropathy: Severe vascular pathology in a severe primary mutation. 38
30881859 2019
47
Mitophagy activation repairs Leber's hereditary optic neuropathy-associated mitochondrial dysfunction and improves cell survival. 38
30304398 2019
48
A study protocol for evaluating the efficacy and safety of skin electrical stimulation for Leber hereditary optic neuropathy: a single-arm, open-label, non-randomized prospective exploratory study. 38
31213761 2019
49
Mitochondrial disorders and drugs: what every physician should know. 38
31391854 2019
50
Leber's Hereditary Optic Neuropathy - Case Discussion. 38
31198903 2019
Sources

Variations for Hereditary Optic Neuropathy

About this section
Sources

Expression for Hereditary Optic Neuropathy

About this section
Search GEO for disease gene expression data for Hereditary Optic Neuropathy.
Sources

Pathways for Hereditary Optic Neuropathy

About this section

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

# Super pathways Score Top Affiliating Genes
1
Metabolism 66
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. 66
Show member pathways
 12.53 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
3
GABAergic synapse 37
Show member pathways
 11.95 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
4
Cardiac muscle contraction 37
11.19 MT-CYB MT-CO3
Sources

GO Terms for Hereditary Optic Neuropathy

About this section

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

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.97 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
2 mitochondrion GO:0005739 9.8 MT-ND5 MT-ND4 MT-ND1 MT-CYB MT-CO3
3 mitochondrial membrane GO:0031966 9.56 MT-ND6 MT-ND4L MT-ND4 MT-ND1
4 mitochondrial inner membrane GO:0005743 9.56 MT-ND6 MT-ND5 MT-ND4 MT-ND2 MT-ND1 MT-CYB
5 mitochondrial respiratory chain complex I GO:0005747 9.55 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
6 respiratory chain GO:0070469 9.17 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
7 membrane GO:0016020 10.02 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 9.02 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 NADH dehydrogenase activity GO:0003954 9.33 MT-ND5 MT-ND4 MT-ND1
2 electron transfer activity GO:0009055 9.26 MT-CYB MT-CO3
3 oxidoreductase activity GO:0016491 9.13 MT-ND4L MT-ND2 MT-CYB
4 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.1 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
Sources

Sources for Hereditary Optic Neuropathy

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 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
Content
Loading form....