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MCID: LBR030
MIFTS: 41

Leber Optic Atrophy

Categories: Eye diseases, Neuronal diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Leber Optic Atrophy

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MalaCards integrated aliases for Leber Optic Atrophy:

Name: Leber Optic Atrophy 58 77
Leber Optic Atrophy, Susceptibility to 58 30 13
Leber Hereditary Optic Neuropathy, Modifier of 58
Optic Atrophy, Hereditary, Leber 74
Lhon, Modifier of 58
Loas 58

Characteristics:

OMIM:

58
Inheritance:
x-linked


HPO:

33
leber optic atrophy:
Inheritance x-linked inheritance


Classifications:

MalaCards categories:
Anatomical: Eye diseases Neuronal diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 58 308905
MedGen 43 C1839891
SNOMED-CT via HPO 70 263934009 58610003 76976005
UMLS 74 C0917796
Sources

Summaries for Leber Optic Atrophy

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MalaCards based summary : Leber Optic Atrophy, also known as leber optic atrophy, susceptibility to, is related to leber optic atrophy and dystonia and leber hereditary optic neuropathy, and has symptoms including ataxia and static tremor. An important gene associated with Leber Optic Atrophy is LOAS (Leber Optic Atrophy, Susceptibility To), 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 Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye and temporal lobe, and related phenotypes are optic atrophy and leber optic atrophy

Wikipedia : 77 Leber''s hereditary optic neuropathy (LHON) or Leber hereditary optic atrophy is a mitochondrially... more...

Description from OMIM: 308905
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Related Diseases for Leber Optic Atrophy

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

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 leber optic atrophy and dystonia 33.5 MT-ND1 MT-ND3 MT-ND4 MT-ND6
2 leber hereditary optic neuropathy 29.9 MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND2
3 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 29.4 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND3
4 loiasis 12.4
5 filariasis 10.9
6 onchocerciasis 10.7
7 filarial elephantiasis 10.6
8 acanthocheilonemiasis 10.6
9 intestinal volvulus 10.4
10 mansonelliasis 10.3
11 angioedema 10.3
12 encephalopathy 10.3
13 mitochondrial myopathy, infantile, transient 10.3 MT-CYB MT-ND6
14 parkinson disease, mitochondrial 10.3 MT-CYB MT-ND6
15 myiasis 10.3 MT-CO1 MT-ND5
16 3-methylglutaconic aciduria, type iii 10.3
17 pediculus humanus capitis infestation 10.3 MT-CO1 MT-CYB
18 amelogenesis imperfecta, type iv 10.3 MT-CO1 MT-CYB
19 alzheimer disease mitochondrial 10.2 MT-ND1 MT-ND2
20 parkinson disease 6, autosomal recessive early-onset 10.2 MT-CYB MT-ND5 MT-ND6
21 coenurosis 10.2 MT-CO1 MT-ND1
22 genetic recurrent myoglobinuria 10.2 MT-CO1 MT-CO3
23 myoglobinuria 10.2 MT-CO1 MT-CO3
24 deafness, aminoglycoside-induced 10.2 MT-CO1 MT-ND4
25 taeniasis 10.2 MT-CO1 MT-ND1
26 acute retrobulbar neuritis 10.2 MT-CYB MT-ND4
27 epilepsy, familial temporal lobe, 2 10.1 MT-CO1 MT-CO3
28 carrion's disease 10.1 MT-CYB MT-ND4
29 thymoma, familial 10.1
30 thrombosis 10.1
31 meningoencephalitis 10.1
32 endomyocardial fibrosis 10.1
33 urticaria 10.1
34 lymphadenitis 10.1
35 hypogonadism 10.1
36 thymoma 10.1
37 monoclonal gammopathy of uncertain significance 10.1
38 hypogonadotropism 10.1
39 encephalitis 10.1
40 charcot-marie-tooth disease 10.0
41 tooth disease 10.0
42 cranial nerve disease 10.0 MT-ND1 MT-ND4 MT-ND5 MT-ND6
43 cystic echinococcosis 10.0 MT-ATP6 MT-CO1 MT-ND1
44 echinococcosis 10.0 MT-ATP6 MT-CO1 MT-ND1
45 periodic paralysis with later-onset distal motor neuropathy 10.0 MT-ATP6 MT-ATP8
46 isolated atp synthase deficiency 10.0 MT-ATP6 MT-ATP8
47 parasitic helminthiasis infectious disease 9.9 MT-CO1 MT-ND1
48 pigmentary disorder, reticulate, with systemic manifestations, x-linked 9.9
49 arthritis 9.9
50 motor neuron disease 9.9

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



Diseases related to Leber Optic Atrophy
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Symptoms & Phenotypes for Leber Optic Atrophy

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Human phenotypes related to Leber Optic Atrophy:

33
# Description HPO Frequency HPO Source Accession
1 optic atrophy 33 HP:0000648
2 leber optic atrophy 33 HP:0001112

Symptoms via clinical synopsis from OMIM:

58
Eyes:
susceptibility to optic atrophy

Clinical features from OMIM:

308905

UMLS symptoms related to Leber Optic Atrophy:


ataxia, static tremor
Sources

Drugs & Therapeutics for Leber Optic Atrophy

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

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Idebenone Approved, Investigational Phase 4,Phase 3,Phase 2 58186-27-9
2 Protective Agents Phase 4,Phase 3,Phase 2
3 Antioxidants Phase 4,Phase 3,Phase 2
4
Curcumin Approved, Experimental, Investigational Phase 3 458-37-7 969516
5 Antirheumatic Agents Phase 3,Phase 2
6 Peripheral Nervous System Agents Phase 3
7 Analgesics Phase 3
8 Anti-Inflammatory Agents Phase 3
9 Analgesics, Non-Narcotic Phase 3
10 Anti-Inflammatory Agents, Non-Steroidal Phase 3
11 Central Nervous System Depressants Phase 3
12 Anesthetics Phase 3
13 Anti-Infective Agents, Local Phase 3
14 Pharmaceutical Solutions Phase 3,Phase 2
15 Trace Elements Phase 3,Phase 2
16 Ubiquinone Phase 3,Phase 2
17 Micronutrients Phase 3,Phase 2
18 Nutrients Phase 3,Phase 2
19
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
20
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
21 Dermatologic Agents Phase 2
22 Immunosuppressive Agents Phase 2
23 Calcineurin Inhibitors Phase 2
24 Anti-Infective Agents Phase 2
25 Antifungal Agents Phase 2
26 Cyclosporins Phase 2
27 Immunologic Factors Phase 2
28 Ophthalmic Solutions Phase 2
29 Neuroprotective Agents Phase 1
30
Triamcinolone Approved, Vet_approved Not Applicable 124-94-7 31307
31
Tocopherol Approved, Investigational 1406-66-2 14986
32
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
33 Tocotrienol Investigational 6829-55-6
34 Triamcinolone hexacetonide Not Applicable
35 Triamcinolone diacetate Not Applicable
36 triamcinolone acetonide Not Applicable
37 Tocotrienols
38 Tocotrienol, alpha
39 Tocopherols

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 Study to Assess the Efficacy and Safety of Raxone in LHON Patients 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 Efficacy Study of GS010 for Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the ND4 Mutation Completed NCT02652780 Phase 3
4 Efficacy & Safety Study of Bilateral IVT Injection of GS010 in LHON Subjects Due to the ND4 Mutation for up to 1 Year 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 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 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)
19 Safety and Efficacy Study of rAAV2-ND4 Treatment of Leber Hereditary Optic Neuropathy (LHON) Completed NCT01267422 Not Applicable rAAV2-ND4
20 Historical Case Record Survey of Visual Acuity Data From Patients With Leber's Hereditary Optic Neuropathy (LHON) Completed NCT02796274
21 Leber Hereditary Optic Neuropathy (LHON) Historical Case Record Survey Completed NCT01892943
22 RHODOS Follow-up Single-visit Study Completed NCT01421381
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 EAP_GS010_single Patient 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 Leber Optic Atrophy

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Genetic Tests for Leber Optic Atrophy

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Genetic tests related to Leber Optic Atrophy:

# Genetic test Affiliating Genes
1 Leber Optic Atrophy, Susceptibility to 30
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Anatomical Context for Leber Optic Atrophy

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MalaCards organs/tissues related to Leber Optic Atrophy:

42
Eye, Temporal Lobe
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Publications for Leber Optic Atrophy

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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
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Variations for Leber Optic Atrophy

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Expression for Leber Optic Atrophy

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

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Pathways related to Leber Optic Atrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism 67
Show member pathways
 13.65 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB
2
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. 67
Show member pathways
 12.73 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB
3
GABAergic synapse 38
Show member pathways
 12.07 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5
4
Cardiac muscle contraction 38
11.45 MT-CO1 MT-CO2 MT-CO3 MT-CYB
5
TP53 Regulates Metabolic Genes 67
11.43 MT-CO1 MT-CO2 MT-CO3
Sources

GO Terms for Leber Optic Atrophy

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.77 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB
2 mitochondrial membrane GO:0031966 9.73 MT-ATP8 MT-ND1 MT-ND3 MT-ND4 MT-ND4L MT-ND6
3 mitochondrial respiratory chain complex I GO:0005747 9.7 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5
4 respiratory chain complex IV GO:0045277 9.54 MT-CO1 MT-CO2 MT-CO3
5 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.52 MT-ATP6 MT-ATP8
6 mitochondrial respiratory chain complex III GO:0005750 9.51 MT-CO1 MT-CYB
7 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.49 MT-ATP6 MT-ATP8
8 NADH dehydrogenase complex GO:0030964 9.46 MT-ND3 MT-ND4L
9 respiratory chain GO:0070469 9.36 MT-CO1 MT-CO2 MT-CYB MT-ND1 MT-ND2 MT-ND3
10 mitochondrial respiratory chain complex IV GO:0005751 9.1 MT-CO1
11 membrane GO:0016020 10.32 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB
12 integral component of membrane GO:0016021 10.25 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB
13 mitochondrion GO:0005739 10.02 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.9 MT-CO1 MT-CO2 MT-CYB MT-ND1 MT-ND2 MT-ND3
2 aging GO:0007568 9.74 MT-ATP6 MT-CO1 MT-ND4
3 response to hypoxia GO:0001666 9.72 MT-CYB MT-ND4 MT-ND5
4 response to oxidative stress GO:0006979 9.71 MT-CO1 MT-ND3 NDUFS2
5 aerobic respiration GO:0009060 9.67 MT-CO1 MT-CO3 MT-ND1 MT-ND4
6 proton transmembrane transport GO:1902600 9.63 MT-CO1 MT-CO2 MT-CO3
7 response to nicotine GO:0035094 9.59 MT-ND4 MT-ND6
8 response to organonitrogen compound GO:0010243 9.58 MT-CYB MT-ND5
9 cristae formation GO:0042407 9.58 MT-ATP6 MT-ATP8
10 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.58 MT-CO1 MT-CO2 MT-CO3
11 ATP biosynthetic process GO:0006754 9.56 MT-ATP6 MT-ATP8
12 ATP synthesis coupled electron transport GO:0042773 9.56 MT-CO2 MT-ND4 MT-ND4L MT-ND5
13 ATP synthesis coupled proton transport GO:0015986 9.52 MT-ATP6 MT-ATP8
14 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.51 MT-ATP6 MT-ATP8
15 electron transport coupled proton transport GO:0015990 9.5 MT-CO1 MT-CYB MT-ND4
16 mitochondrial respiratory chain complex I assembly GO:0032981 9.5 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6
17 respiratory electron transport chain GO:0022904 9.49 MT-CO3 MT-CYB
18 response to copper ion GO:0046688 9.48 MT-CO1 MT-CYB
19 response to hyperoxia GO:0055093 9.43 MT-ATP6 MT-CYB
20 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 electron transfer activity GO:0009055 9.5 MT-CO3 MT-CYB NDUFS2
2 NADH dehydrogenase activity GO:0003954 9.46 MT-ND1 MT-ND4 MT-ND5 NDUFS2
3 cytochrome-c oxidase activity GO:0004129 9.43 MT-CO1 MT-CO2 MT-CO3
4 oxidoreductase activity GO:0016491 9.43 MT-CO1 MT-CO2 MT-CYB MT-ND2 MT-ND4L NDUFS2
5 proton transmembrane transporter activity GO:0015078 9.4 MT-ATP6 MT-ATP8
6 oxidoreductase activity, acting on NAD(P)H GO:0016651 9.37 MT-ND4L NDUFS2
7 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.23 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5
Sources

Sources for Leber Optic Atrophy

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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