MCID: LBR030
MIFTS: 38

Leber Optic Atrophy

Categories: Neuronal diseases, Eye diseases

Aliases & Classifications for Leber Optic Atrophy

MalaCards integrated aliases for Leber Optic Atrophy:

Name: Leber Optic Atrophy 53 72 36
Leber Optic Atrophy, Susceptibility to 53 28 13
Leber Hereditary Optic Neuropathy, Modifier of 53
Optic Atrophy, Hereditary, Leber 69
Lhon, Modifier of 53
Loas 53

Characteristics:

OMIM:

53
Inheritance:
x-linked


HPO:

31
leber optic atrophy:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 53 308905
MedGen 39 C1839891
KEGG 36 H00068
SNOMED-CT via HPO 65 76976005 58610003 263934009

Summaries for Leber Optic Atrophy

MalaCards based summary : Leber Optic Atrophy, also known as leber optic atrophy, susceptibility to, is related to leber optic atrophy and dystonia and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, and has symptoms including optic atrophy, static tremor and ataxia. An important gene associated with Leber Optic Atrophy 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.

Wikipedia : 72 Leber\'s hereditary optic neuropathy (LHON) or Leber hereditary optic atrophy is a mitochondrially... more...

Description from OMIM: 308905

Related Diseases for Leber Optic Atrophy

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

(show all 32)
# Related Disease Score Top Affiliating Genes
1 leber optic atrophy and dystonia 32.9 MT-ND1 MT-ND3 MT-ND4 MT-ND6
2 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 29.1 MT-ATP6 MT-CO3 MT-ND1 MT-ND3 MT-ND4 MT-ND4L
3 leber hereditary optic neuropathy 28.3 MT-ATP6 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3
4 loiasis 12.2
5 cortical blindness 10.3 MT-ND4 MT-ND6
6 parkinson disease 6, autosomal recessive early-onset 10.3 MT-ND5 MT-ND6
7 diphyllobothriasis 10.2 MT-ND3 MT-ND5
8 alzheimer disease mitochondrial 10.0 MT-ND1 MT-ND2
9 myoclonic epilepsy associated with ragged-red fibers 10.0 MT-ND4 MT-ND5
10 cystic echinococcosis 9.9 MT-ATP6 MT-ND1
11 charcot-marie-tooth disease 9.9
12 tooth disease 9.9
13 peripheral nervous system disease 9.9 MT-ND4 MT-ND6
14 carrion's disease 9.8 MT-CYB MT-ND4
15 echinococcosis 9.8 MT-ATP6 MT-ND1
16 familial colorectal cancer 9.8 MT-CYB MT-ND4L
17 taeniasis 9.7 MT-CYB MT-ND1
18 phlebotomus fever 9.7 MT-CYB MT-ND1
19 cranial nerve disease 9.7 MT-ND1 MT-ND4 MT-ND5 MT-ND6
20 optic nerve disease 9.7 MT-ND1 MT-ND4 MT-ND5 MT-ND6
21 sparganosis 9.7 MT-CYB MT-ND3 MT-ND4
22 encephalomyopathy 9.2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6
23 kearns-sayre syndrome 9.1 MT-ATP6 MT-CYB MT-ND4 MT-ND5 MT-ND6
24 mitochondrial myopathy 8.9 MT-ATP6 MT-CO3 MT-CYB MT-ND4 MT-ND5
25 lactic acidosis 8.8 MT-ATP6 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6
26 mitochondrial complex i deficiency 8.8 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5
27 mitochondrial metabolism disease 8.7 MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5
28 mitochondrial encephalomyopathy 8.6 MT-CO3 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6
29 mitochondrial disorders 8.4 MT-ATP6 MT-CYB MT-ND1 MT-ND3 MT-ND4 MT-ND5
30 neuropathy 8.4 MT-ATP6 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND5
31 mitochondrial dna-associated leigh syndrome and narp 8.2 MT-ATP6 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4
32 leigh syndrome 8.2 MT-ATP6 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4

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



Diseases related to Leber Optic Atrophy

Symptoms & Phenotypes for Leber Optic Atrophy

Symptoms via clinical synopsis from OMIM:

53
Eyes:
susceptibility to optic atrophy


Clinical features from OMIM:

308905

Human phenotypes related to Leber Optic Atrophy:

31
# Description HPO Frequency HPO Source Accession
1 optic atrophy 31 HP:0000648
2 leber optic atrophy 31 HP:0001112

UMLS symptoms related to Leber Optic Atrophy:


static tremor, ataxia

Drugs & Therapeutics for Leber Optic Atrophy

Drugs for Leber Optic Atrophy (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 Analgesics Phase 3
7 Analgesics, Non-Narcotic Phase 3
8 Anti-Inflammatory Agents Phase 3
9 Anti-Inflammatory Agents, Non-Steroidal Phase 3
10 Peripheral Nervous System Agents Phase 3
11 Micronutrients Phase 3,Phase 2
12 Trace Elements Phase 3,Phase 2
13 Ubiquinone Phase 3,Phase 2
14 Anesthetics Phase 3
15 Anti-Infective Agents, Local Phase 3
16 Central Nervous System Depressants Phase 3
17 Pharmaceutical Solutions Phase 3,Phase 2
18
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
19
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
20 Antifungal Agents Phase 2
21 Anti-Infective Agents Phase 2
22 Calcineurin Inhibitors Phase 2
23 Cyclosporins Phase 2
24 Dermatologic Agents Phase 2
25 Immunosuppressive Agents Phase 2
26 Ophthalmic Solutions Phase 2
27 Neuroprotective Agents Phase 1
28
Triamcinolone Approved, Vet_approved 124-94-7 31307
29 Tocopherol Approved, Investigational, Nutraceutical
30
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
31 triamcinolone acetonide
32 Triamcinolone diacetate
33 Triamcinolone hexacetonide
34 Tocopherols
35 Tocotrienol, alpha
36 Tocotrienols
37 Tocotrienol Investigational, Nutraceutical 6829-55-6

Interventional clinical trials:

(show all 29)

# 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 Safety and Efficacy Study of Gene Therapy for The Treatment of Leber's Hereditary Optic Neuropathy Recruiting NCT03153293 Phase 2, Phase 3 rAAV2-ND4
4 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
5 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
6 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 Not yet recruiting NCT03293524 Phase 3 Placebo
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 Dose-escalating Clinical Trial With KH176 Completed NCT02544217 Phase 1 KH176;placebo
16 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
17 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)
18 Safety and Efficacy Study of rAAV2-ND4 Treatment of Leber Hereditary Optic Neuropathy (LHON) Completed NCT01267422 rAAV2-ND4
19 Leber Hereditary Optic Neuropathy (LHON) Historical Case Record Survey Completed NCT01892943
20 RHODOS Follow-up Single-visit Study Completed NCT01421381
21 Historical Case Record Survey of Visual Acuity Data From Patients With Leber's Hereditary Optic Neuropathy (LHON) Recruiting NCT02796274
22 Post Authorisation Safety Study With Raxone in LHON Patients Recruiting NCT02771379 Idebenone
23 RESCUE and REVERSE Long-term Follow-up Recruiting NCT03406104
24 Efficacy Study of Gene Therapy for The Treatment of Acute LHON Onset Within Three Months Recruiting NCT03428178 rAAV2-ND4
25 Biomechanics of Optic Neuropathy Recruiting NCT02982499
26 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541
27 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
28 REALITY LHON Registry Not yet recruiting NCT03295071
29 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 Optic Atrophy

Genetic Tests for Leber Optic Atrophy

Genetic tests related to Leber Optic Atrophy:

# Genetic test Affiliating Genes
1 Leber Optic Atrophy, Susceptibility to 28

Anatomical Context for Leber Optic Atrophy

Publications for Leber Optic Atrophy

Articles related to Leber Optic Atrophy:

# Title Authors Year
1
Preliminary exclusion of an X-linked gene in Leber optic atrophy by linkage analysis. ( 2731932 )
1989
2
Leber optic atrophy low vision case report. ( 3364529 )
1988
3
Charcot-Marie-Tooth disease with Leber optic atrophy. ( 563998 )
1978

Variations for Leber Optic Atrophy

ClinVar genetic disease variations for Leber Optic Atrophy:

6 (show all 39)
# 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-CO3 m.9438G> A single nucleotide variant Pathogenic rs267606611 GRCh37 Chromosome MT, 9438: 9438
3 MT-CO3 m.9804G> A single nucleotide variant Pathogenic rs200613617 GRCh37 Chromosome MT, 9804: 9804
4 MT-CO1; MT-TS1 m.7444G> A single nucleotide variant Pathogenic rs199474822 GRCh37 Chromosome MT, 7444: 7444
5 MT-CYB m.15812G> A single nucleotide variant Pathogenic rs200336777 GRCh37 Chromosome MT, 15812: 15812
6 MT-ND6 NC_012920.1: m.14484T> C single nucleotide variant Pathogenic/Likely pathogenic rs199476104 GRCh37 Chromosome MT, 14484: 14484
7 MT-ND6 m.14459G> A single nucleotide variant Pathogenic rs199476105 GRCh37 Chromosome MT, 14459: 14459
8 MT-ND6 m.14596A> T single nucleotide variant Pathogenic rs387906424 GRCh37 Chromosome MT, 14596: 14596
9 MT-ND6 m.14495A> G single nucleotide variant Pathogenic rs199476106 GRCh37 Chromosome MT, 14495: 14495
10 MT-ND6 m.14482C> A single nucleotide variant Pathogenic rs199476108 GRCh37 Chromosome MT, 14482: 14482
11 MT-ND5 m.13730G> A single nucleotide variant Pathogenic rs387906425 GRCh37 Chromosome MT, 13730: 13730
12 MT-ND5 m.13045A> C single nucleotide variant Pathogenic rs267606895 GRCh37 Chromosome MT, 13045: 13045
13 MT-ND5 m.12848C> T single nucleotide variant Pathogenic rs267606899 GRCh37 Chromosome MT, 12848: 12848
14 MT-ND4L m.10663T> C single nucleotide variant Pathogenic rs193302933 GRCh37 Chromosome MT, 10663: 10663
15 MT-ND4 NC_012920.1: m.11778G> A single nucleotide variant Pathogenic rs199476112 GRCh37 Chromosome MT, 11778: 11778
16 MT-ND4 m.11696G> A single nucleotide variant Pathogenic rs200873900 GRCh37 Chromosome MT, 11696: 11696
17 MT-ND2 m.5244G> A single nucleotide variant Pathogenic rs199476115 GRCh37 Chromosome MT, 5244: 5244
18 MT-ND2 m.4640C> A single nucleotide variant Pathogenic rs387906426 GRCh37 Chromosome MT, 4640: 4640
19 MT-ND1 NC_012920.1: m.3460G> A single nucleotide variant Pathogenic rs199476118 GRCh37 Chromosome MT, 3460: 3460
20 MT-ND1 m.4160T> C single nucleotide variant Pathogenic rs199476119 GRCh37 Chromosome MT, 4160: 4160
21 MT-ND1 m.3394T> C single nucleotide variant Pathogenic rs41460449 GRCh37 Chromosome MT, 3394: 3394
22 MT-ND1 m.4136A> G single nucleotide variant Pathogenic rs199476121 GRCh37 Chromosome MT, 4136: 4136
23 MT-ND1 m.4171C> A single nucleotide variant Pathogenic rs28616230 GRCh37 Chromosome MT, 4171: 4171
24 MT-ND1 m.3697G> A single nucleotide variant Pathogenic rs199476122 GRCh37 Chromosome MT, 3697: 3697
25 MT-ND1 m.3733G> A single nucleotide variant Pathogenic rs199476125 GRCh37 Chromosome MT, 3733: 3733
26 MT-ND5 m.12338T> C single nucleotide variant Pathogenic rs201863060 GRCh37 Chromosome MT, 12338: 12338
27 MT-ND3 m.10237T> C single nucleotide variant Pathogenic rs193302927 GRCh37 Chromosome MT, 10237: 10237
28 MT-ND4 m.11253T> C single nucleotide variant Pathogenic rs200145866 GRCh37 Chromosome MT, 11253: 11253
29 MT-ND5 m.13637A> G single nucleotide variant Pathogenic rs200855215 GRCh37 Chromosome MT, 13637: 13637
30 MT-ND6 m.14325T> C single nucleotide variant Pathogenic rs397515505 GRCh37 Chromosome MT, 14325: 14325
31 MT-ND6 m.14482C> G single nucleotide variant Pathogenic rs199476108 GRCh37 Chromosome MT, 14482: 14482
32 MT-ND6 m.14498T> C single nucleotide variant Pathogenic rs869025186 GRCh37 Chromosome MT, 14498: 14498
33 MT-ND6 m.14568C> T single nucleotide variant Pathogenic rs397515506 GRCh37 Chromosome MT, 14568: 14568
34 MT-ND6 m.14279G> A single nucleotide variant Pathogenic rs869025187 GRCh38 Chromosome MT, 14279: 14279
35 MT-CYB m.14831G> A single nucleotide variant Pathogenic rs199795644 GRCh37 Chromosome MT, 14831: 14831
36 MT-ND1 m.3635G> A single nucleotide variant Pathogenic rs397515507 GRCh37 Chromosome MT, 3635: 3635
37 MT-ND1 m.3700G> A single nucleotide variant Pathogenic rs397515508 GRCh37 Chromosome MT, 3700: 3700
38 MT-ND1 m.4025C> T single nucleotide variant Pathogenic rs397515509 GRCh37 Chromosome MT, 4025: 4025
39 MT-ND1 m.3376G> A single nucleotide variant Pathogenic rs397515612 GRCh37 Chromosome MT, 3376: 3376

Expression for Leber Optic Atrophy

Search GEO for disease gene expression data for Leber Optic Atrophy.

Pathways for Leber Optic Atrophy

Pathways related to Leber Optic Atrophy according to KEGG:

36
# Name Kegg Source Accession
1 Oxidative phosphorylation hsa00190

GO Terms for Leber Optic Atrophy

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.87 MT-CO3 MT-CYB MT-ND1 MT-ND3 MT-ND4 MT-ND5
2 mitochondrial membrane GO:0031966 9.65 MT-ND1 MT-ND3 MT-ND4 MT-ND4L MT-ND6
3 mitochondrial respiratory chain complex I GO:0005747 9.63 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5
4 mitochondrial inner membrane GO:0005743 9.61 MT-ATP6 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3
5 respiratory chain GO:0070469 9.23 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L
6 membrane GO:0016020 10.1 MT-ATP6 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3
7 integral component of membrane GO:0016021 10.07 MT-ATP6 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.76 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L
2 response to hypoxia GO:0001666 9.58 MT-CYB MT-ND4 MT-ND5
3 response to hormone GO:0009725 9.49 MT-CYB MT-ND3
4 response to hydrogen peroxide GO:0042542 9.48 MT-ND5 MT-ND6
5 response to nicotine GO:0035094 9.46 MT-ND4 MT-ND6
6 response to organonitrogen compound GO:0010243 9.43 MT-CYB MT-ND5
7 ATP synthesis coupled electron transport GO:0042773 9.43 MT-ND4 MT-ND4L MT-ND5
8 mitochondrial respiratory chain complex I assembly GO:0032981 9.43 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6
9 respiratory electron transport chain GO:0022904 9.37 MT-CO3 MT-CYB
10 response to hyperoxia GO:0055093 9.32 MT-ATP6 MT-CYB
11 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.17 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.56 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L
2 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.17 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5

Sources for Leber Optic Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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