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MCID: LBR030
MIFTS: 40

Leber Optic Atrophy

Categories: Eye diseases, Neuronal diseases
Genes 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 57 76
Leber Optic Atrophy, Susceptibility to 57 29 13
Leber Hereditary Optic Neuropathy, Modifier of 57
Optic Atrophy, Hereditary, Leber 73
Lhon, Modifier of 57
Loas 57

Characteristics:

OMIM:

57
Inheritance:
x-linked


HPO:

32
leber optic atrophy:
Inheritance x-linked inheritance


Classifications:

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


External Ids:

OMIM 57 308905
MedGen 42 C1839891
SNOMED-CT via HPO 69 76976005 58610003 263934009
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 Antioxidants have been mentioned in the context of this disorder. Related phenotypes are optic atrophy and leber optic atrophy

Wikipedia : 76 Leber\'s hereditary optic neuropathy (LHON) or Leber hereditary optic atrophy is a mitochondrially... more...

Description from OMIM: 308905
Sources

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 62)
# Related Disease Score Top Affiliating Genes
1 leber optic atrophy and dystonia 32.9 MT-ND1 MT-ND3 MT-ND4 MT-ND6
2 leber hereditary optic neuropathy 27.2 MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND2
3 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 26.0 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND3
4 loiasis 12.2
5 mitochondrial myopathy, infantile, transient 10.7 MT-CYB MT-ND6
6 parkinson disease, mitochondrial 10.7 MT-CYB MT-ND6
7 alzheimer disease mitochondrial 10.6 MT-ND1 MT-ND2
8 myiasis 10.6 MT-CO1 MT-ND5
9 amelogenesis imperfecta, type iv 10.5 MT-CO1 MT-CYB
10 phlebotomus fever 10.5 MT-CYB MT-ND1
11 coenurosis 10.5 MT-CO1 MT-ND1
12 parkinson disease 6, autosomal recessive early-onset 10.5 MT-CYB MT-ND5 MT-ND6
13 genetic recurrent myoglobinuria 10.5 MT-CO1 MT-CO3
14 deafness, aminoglycoside-induced 10.5 MT-CO1 MT-ND4
15 myasthenic syndrome, congenital, 10 10.4 MT-CO1 MT-CYB
16 taeniasis 10.4 MT-CO1 MT-ND1
17 cortical blindness 10.3 MT-ND4 MT-ND6
18 epilepsy, familial temporal lobe, 2 10.3 MT-CO1 MT-CO3
19 cysticercosis 10.3 MT-CO1 MT-ND1
20 carrion's disease 10.3 MT-CYB MT-ND4
21 3-methylglutaconic aciduria, type iii 10.2
22 parasitic helminthiasis infectious disease 10.1 MT-CO1 MT-ND1
23 myoglobinuria 10.0 MT-CO1 MT-CO3
24 periodic paralysis with later-onset distal motor neuropathy 10.0 MT-ATP6 MT-ATP8
25 cranial nerve disease 10.0 MT-ND1 MT-ND4 MT-ND5 MT-ND6
26 optic nerve disease 10.0 MT-ND1 MT-ND4 MT-ND5 MT-ND6
27 isolated atp synthase deficiency 10.0 MT-ATP6 MT-ATP8
28 cercarial dermatitis 9.9 MT-ATP8 MT-CO1 MT-ND4
29 mitochondrial complex v deficiency 9.9 MT-ATP6 MT-ATP8
30 charcot-marie-tooth disease 9.9
31 tooth disease 9.9
32 cystic echinococcosis 9.9 MT-ATP6 MT-CO1 MT-ND1
33 echinococcosis 9.9 MT-ATP6 MT-CO1 MT-ND1
34 encephalomyopathy 9.7 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6
35 myoglobinuria, recurrent 9.7 MT-CO1 MT-CO2 MT-ND2
36 parasitic protozoa infectious disease 9.7 MT-CO1 MT-CO2 MT-CYB
37 sparganosis 9.7 MT-CO1 MT-CYB MT-ND3 MT-ND4
38 diphyllobothriasis 9.5 MT-ATP8 MT-CO1 MT-ND3 MT-ND5
39 neuropathy 9.5 MT-ATP6 MT-ND1 MT-ND4 MT-ND6
40 mitochondrial metabolism disease 9.4 MT-ATP6 MT-ND3 MT-ND5 MT-ND6
41 dystonia 9.2 MT-ND3 MT-ND4 MT-ND6
42 mitochondrial complex iv deficiency 8.9 MT-CO1 MT-CO2 MT-CO3 MT-ND3
43 sideroblastic anemia acquired 8.7 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2
44 lactic acidosis 8.5 MT-ATP6 MT-CO3 MT-CYB MT-ND1 MT-ND4 MT-ND5
45 mitochondrial complex i deficiency 8.1 MT-CO1 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L
46 striatonigral degeneration, infantile, mitochondrial 8.0 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
47 myopathy, lactic acidosis, and sideroblastic anemia 3 8.0 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
48 striatonigral degeneration, infantile 8.0 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
49 ataxia and polyneuropathy, adult-onset 8.0 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
50 myopathy, lactic acidosis, and sideroblastic anemia 8.0 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L

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



Diseases related to Leber Optic Atrophy
Sources

Symptoms & Phenotypes for Leber Optic Atrophy

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Symptoms via clinical synopsis from OMIM:

57
Eyes:
susceptibility to optic atrophy


Clinical features from OMIM:

308905

Human phenotypes related to Leber Optic Atrophy:

32
# Description HPO Frequency HPO Source Accession
1 optic atrophy 32 HP:0000648
2 leber optic atrophy 32 HP:0001112

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 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 Central Nervous System Depressants Phase 3
16 Pharmaceutical Solutions Phase 3,Phase 2
17 Anti-Infective Agents, Local Phase 3
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 Not Applicable 124-94-7 31307
29
Tocopherol Approved, Investigational, Nutraceutical 1406-66-2 14986
30
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
31 triamcinolone acetonide Not Applicable
32 Triamcinolone diacetate Not Applicable
33 Triamcinolone hexacetonide Not Applicable
34 Tocopherols
35 Tocotrienol, alpha
36 Tocotrienols
37 Tocotrienol Investigational, Nutraceutical 6829-55-6

Interventional clinical trials:

(show all 31)
# 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 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 Recruiting NCT03293524 Phase 3 Placebo
4 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
5 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
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 5.00x10e9 vg (Low),;injection of scAAV2-P1ND4v2 2.46X10e10 vg (Med);injection of scAAV2-P1ND4v2 1.0X10e11vg (High)
19 Safety and Efficacy Study of rAAV2-ND4 Treatment of Leber Hereditary Optic Neuropathy (LHON) Completed NCT01267422 Not Applicable rAAV2-ND4
20 Leber Hereditary Optic Neuropathy (LHON) Historical Case Record Survey Completed NCT01892943
21 RHODOS Follow-up Single-visit Study Completed NCT01421381
22 Historical Case Record Survey of Visual Acuity Data From Patients With Leber's Hereditary Optic Neuropathy (LHON) Recruiting NCT02796274
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 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 29
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Anatomical Context for Leber Optic Atrophy

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Publications for Leber Optic Atrophy

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Articles related to Leber Optic Atrophy:

# Title Authors Year
1
Leber Optic Atrophy ( 29494105 )
2018
2
Preliminary exclusion of an X-linked gene in Leber optic atrophy by linkage analysis. ( 2731932 )
1989
3
Leber optic atrophy low vision case report. ( 3364529 )
1988
4
Charcot-Marie-Tooth disease with Leber optic atrophy. ( 563998 )
1978
Sources

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 66
Show member pathways
 13.6 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. 66
Show member pathways
 12.69 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB
3
GABAergic synapse 37
Show member pathways
 12.01 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5
4
Cardiac muscle contraction 37
11.45 MT-CO1 MT-CO2 MT-CO3 MT-CYB
5
TP53 Regulates Metabolic Genes 66
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 membrane GO:0031966 9.73 MT-ATP8 MT-ND1 MT-ND3 MT-ND4 MT-ND4L MT-ND6
2 mitochondrial inner membrane GO:0005743 9.73 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB
3 mitochondrial respiratory chain complex I GO:0005747 9.63 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5
4 mitochondrial respiratory chain complex IV GO:0005751 9.61 MT-CO1 MT-CO2 MT-CO3
5 respiratory chain complex IV GO:0045277 9.54 MT-CO1 MT-CO2 MT-CO3
6 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.52 MT-ATP6 MT-ATP8
7 mitochondrial respiratory chain complex III GO:0005750 9.51 MT-CO1 MT-CYB
8 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.49 MT-ATP6 MT-ATP8
9 NADH dehydrogenase complex GO:0030964 9.46 MT-ND3 MT-ND4L
10 respiratory chain GO:0070469 9.32 MT-CO1 MT-CO2 MT-CYB MT-ND1 MT-ND2 MT-ND3
11 membrane GO:0016020 10.29 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB
12 integral component of membrane GO:0016021 10.22 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 aging GO:0007568 9.72 MT-ATP6 MT-CO1 MT-ND4
2 response to hypoxia GO:0001666 9.71 MT-CYB MT-ND4 MT-ND5
3 oxidation-reduction process GO:0055114 9.65 MT-CO1 MT-CO2 MT-CYB MT-ND1 MT-ND2 MT-ND3
4 proton transmembrane transport GO:1902600 9.63 MT-CO1 MT-CO2 MT-CO3
5 mitochondrial respiratory chain complex I assembly GO:0032981 9.63 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6
6 aerobic respiration GO:0009060 9.61 MT-CO1 MT-CO3 MT-ND4
7 cerebellum development GO:0021549 9.59 MT-CO1 MT-ND4
8 response to nicotine GO:0035094 9.58 MT-ND4 MT-ND6
9 response to organonitrogen compound GO:0010243 9.58 MT-CYB MT-ND5
10 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.58 MT-CO1 MT-CO2 MT-CO3
11 ATP biosynthetic process GO:0006754 9.57 MT-ATP6 MT-ATP8
12 cristae formation GO:0042407 9.56 MT-ATP6 MT-ATP8
13 ATP synthesis coupled electron transport GO:0042773 9.56 MT-CO2 MT-ND4 MT-ND4L MT-ND5
14 respiratory electron transport chain GO:0022904 9.54 MT-CO1 MT-CO3 MT-CYB
15 ATP synthesis coupled proton transport GO:0015986 9.52 MT-ATP6 MT-ATP8
16 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.51 MT-ATP6 MT-ATP8
17 electron transport coupled proton transport GO:0015990 9.5 MT-CO1 MT-CYB MT-ND4
18 response to copper ion GO:0046688 9.49 MT-CO1 MT-CYB
19 response to hyperoxia GO:0055093 9.48 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 oxidoreductase activity GO:0016491 9.65 MT-CO1 MT-CO2 MT-CYB MT-ND1 MT-ND2 MT-ND3
2 electron transfer activity GO:0009055 9.5 MT-CO1 MT-CO3 MT-CYB
3 cytochrome-c oxidase activity GO:0004129 9.43 MT-CO1 MT-CO2 MT-CO3
4 proton transmembrane transporter activity GO:0015078 9.37 MT-ATP6 MT-ATP8
5 NADH dehydrogenase activity GO:0003954 9.33 MT-ND1 MT-ND4 MT-ND5
6 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.17 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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