MCID: LBR030
MIFTS: 52

Leber Optic Atrophy malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Metabolic diseases, Neuronal diseases

Aliases & Classifications for Leber Optic Atrophy

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Aliases & Descriptions for Leber Optic Atrophy:

Name: Leber Optic Atrophy 51 47 25 53 69 34
Leber Hereditary Optic Neuropathy 11 23 47 24 25 53 51 69 13
Lhon 23 47 24 25 53 69
Leber's Optic Atrophy 11 23 24 25
Leber's Optic Neuropathy 23 24 25
Leber's Hereditary Optic Neuropathy 11 25
Hereditary Optic Neuroretinopathy 24 25
Optic Atrophy, Hereditary, Leber 38 67
Optic Atrophy Leber Type 69 26
Leber's Disease 23 24
 
Leber Optic Atrophy, Susceptibility to 12
Lebers Hereditary Optic Neuropathy 49
Leber Hereditary Optic Atrophy 25
Leber Congenital Amaurosis 67
Optic Atrophy, Leber Type 47
Leber Plus Disease 53
Lhon Plus Disease 53
Leber’s Disease 47
Loa 69

Characteristics:

Orphanet epidemiological data:

53
leber hereditary optic neuropathy:
Inheritance: Mitochondrial inheritance; Prevalence: 1-9/100000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy
leber plus disease:
Inheritance: Mitochondrial inheritance; Prevalence: <1/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy

HPO:

63
leber optic atrophy:
Inheritance: x-linked inheritance
leber hereditary optic neuropathy:
Inheritance: heterogeneous, mitochondrial inheritance
Onset and clinical course: incomplete penetrance

GeneReviews:

23
Penetrance: lhon-causing mtdna pathogenic variants are characterized by reduced penetrance. an individual can only develop lhon if a pathogenic mtdna lhon-causing variant is present, but approximately 50% of males and 90% of females who harbor a primary lhon-causing mtdna pathogenic variant do not develop blindness. it must be stressed that penetrance can vary markedly in different branches of the same family and between families harboring the same lhon-causing mtdna pathogenic variants, which complicates genetic counseling at the individual level. additional environmental and genetic factors interact with the primary mtdna pathogenic variant and determine whether an individual ultimately develops optic nerve dysfunction and visual failure. the two most important risk factors for visual loss are sex and age (see table 4) [yu-wai-man et al 2009]...


Classifications:



External Ids:

Disease Ontology11 DOID:705
ICD1029 H47.22
MeSH38 D029242
NCIt44 C84808
ICD10 via Orphanet30 H47.2
MedGen36 C0917796

Summaries for Leber Optic Atrophy

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OMIM:51 LHON presents in midlife as acute or subacute central vision loss leading to central scotoma and blindness. The disease... (535000) more...

MalaCards based summary: Leber Optic Atrophy, also known as leber hereditary optic neuropathy, is related to loiasis and leber hereditary optic neuropathy with dystonia, and has symptoms including optic neuropathy, optic atrophy and visual loss. An important gene associated with Leber Optic Atrophy is MT-ND6 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 6), and among its related pathways are Cardiac muscle contraction and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include eye.

Genetics Home Reference:25 Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss. Although this condition usually begins in a person's teens or twenties, rare cases may appear in early childhood or later in adulthood. For unknown reasons, males are affected much more often than females.

NIH Rare Diseases:47 Leber hereditary optic neuropathy (LHON) is a condition characterized by vision loss. Vision loss is typically the only symptom of LHON. Some families with additional signs and symptoms have been reported and are said to have LHON plus, a condition which includes vision loss, tremors, and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). Some affected individuals develop features similar to multiple sclerosis. LHON is caused by mutations in the MT-ND1, MT-ND4, MT-ND4L, and MT-ND6 genes. LHON has a mitochondrial pattern of inheritance; however, there are many cases in which there are no other cases of LHON in the family. Treatment is supportive and may include visual aids. There is ongoing research for more effective treatment.  Last updated: 12/28/2016

UniProtKB/Swiss-Prot:69 Leber hereditary optic neuropathy: A maternally inherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.

Description from OMIM:51 308905

GeneReviews for NBK1174

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 all 50)
idRelated DiseaseScoreTop Affiliating Genes
1loiasis12.0
2leber hereditary optic neuropathy with dystonia11.3
3mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes11.0
4leber congenital amaurosis11.0
5alopecia, androgenetic, 210.7LOAS, MT-ND1, MT-ND6
6primary syringomyelia10.7MT-CO1, MT-CO3
7clubfoot10.7MT-ND4, MT-ND5, MT-ND6
8acanthocephaliasis10.7MT-CO1, MT-ND1
9parkinson disease 6, early onset10.6MT-ND5, MT-ND6
10adenylosuccinase deficiency10.6MT-CO1, MT-ND4
11extrapulmonary tuberculosis10.6MT-CO1, MT-CYB, MT-ND1
12gastric leiomyoma10.6MT-CO1, MT-CYB, MT-ND3
13otitis externa10.6MT-ND4, NDUFA1
14sparganosis10.6MT-CO1, MT-ND3, MT-ND5
15cholera10.6MT-ATP6, MT-CO1, MT-ND1
16lymphoepithelioma-like carcinoma10.6MT-ND1, MT-ND4, MT-ND5, MT-ND6
17paroxysomal nonkinesigenic dyskinesia10.6MT-ND1, MT-ND3, MT-ND4, MT-ND6
18reproductive system disease10.6MT-ATP6, MT-CO1, MT-ND1
19morbid obesity and spermatogenic failure10.6MT-ND4, MT-ND6, OPA1
20urethral false passage10.5MT-ND4, OPA1
21enchondroma10.5MT-CO3, MT-ND5, MT-ND6, NDUFS4
22mental retardation with spastic paraplegia10.5MT-ATP6, MT-CYB, MT-ND4, MT-ND5, MT-ND6
23adrenocortical insufficiency, without ovarian defect10.5MT-ND1, MT-ND2
24lfng-related spondylocostal dysostosis, autosomal recessive10.5MT-CO3, NDUFS4
25african histoplasmosis10.5MT-CO1, MT-ND4
26restless legs syndrome10.4MT-CYB, MT-ND4
27tinea nigra10.4MT-CO3, MT-CYB, MT-ND1, MT-ND4, MT-ND5, MT-ND6
28wheat allergy10.4MT-ATP6, MT-CO3, MT-ND1, MT-ND4, MT-ND5, MT-ND6
29noninfectious dermatoses of eyelid10.4MT-ND1, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, NDUFA1
30childhood cerebral astrocytoma10.3MT-ATP6, MT-ND3, MT-ND5, MT-ND6, NDUFA1, NDUFS4
31genital herpes10.3MT-ATP6, MT-CYB, MT-ND1, MT-ND4, MT-ND4L, MT-ND5
32myoclonic epilepsy associated with ragged-red fibers10.3MT-ATP6, MT-CO1, MT-CO3, MT-ND1, MT-ND4, MT-ND5
33filariasis10.3
34onchocerciasis10.3
35syphilitic encephalitis10.2MT-CO1, MT-ND1
36mitochondrial membrane protein-associated neurodegeneration10.2MT-ATP6, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4
37mitochondrial neurogastrointestinal encephalopathy disease10.2MT-ATP6, MT-ND1, MT-ND4, MT-ND5, MT-ND6, NDUFS4
38encephalopathy10.0
39mitochondrial complex i deficiency10.0MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5
40meningoencephalitis9.9
41heart disease9.9
42angioedema9.9
43neuronitis9.9
44charcot-marie-tooth disease9.8
45tooth disease9.8
46spastic paraparesis9.8
47spasticity9.8
48leigh syndrome9.7MT-ATP6, MT-CO1, MT-CO3, MT-ND1, MT-ND2, MT-ND3
49motor neuron disease9.7
50esophageal basaloid squamous cell carcinoma8.9EPHX1, MT-ATP6, MT-CO1, MT-CO3, MT-CYB, MT-ND1

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



Diseases related to leber optic atrophy

Symptoms for Leber Optic Atrophy

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Symptoms by clinical synopsis from OMIM:

308905

Clinical features from OMIM:

308905,535000

Human phenotypes related to Leber Optic Atrophy:

 63 53 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 optic neuropathy63 frequent (33%) HP:0001138
2 optic atrophy63 53 Frequent (79-30%) HP:0000648
3 visual loss63 HP:0000572
4 centrocecal scotoma63 53 Frequent (79-30%) HP:0000576
5 leber optic atrophy63 HP:0001112
6 ataxia63 53 Occasional (29-5%) HP:0001251
7 polyneuropathy63 HP:0001271
8 dystonia63 HP:0001332
9 postural tremor63 53 Occasional (29-5%) HP:0002174
10 myopathy63 53 Occasional (29-5%) HP:0003198
11 central retinal vessel vascular tortuosity63 HP:0007768
12 arrhythmia63 53 Occasional (29-5%) HP:0011675
13 retinal telangiectasia53 Frequent (79-30%)
14 blurred vision53 Frequent (79-30%)
15 slow decrease in visual acuity53 Very frequent (99-80%)
16 mitochondrial respiratory chain defects53 Very frequent (99-80%)
17 central scotoma53 Frequent (79-30%)
18 retinal vascular tortuosity53 Frequent (79-30%)
19 ventricular preexcitation53 Occasional (29-5%)
20 peripheral neuropathy53 Occasional (29-5%)

UMLS symptoms related to Leber Optic Atrophy:


ataxia, static tremor

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)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Idebenoneapproved, investigationalPhase 4, Phase 3, Phase 22158186-27-9
2AntioxidantsPhase 4, Phase 3, Phase 22928
3Protective AgentsPhase 4, Phase 3, Phase 27190
4
Cysteamineapproved, investigationalPhase 2, Phase 32760-23-16058
Synonyms:
(2-Mercaptoethyl)amine
(Mercaptoethyl)ammonium toluene-p-sulphonate
.beta.-Mercaptoethylamine
1-Amino-2-mercaptoethylamine
139720-70-0
156-57-0 (hydrochloride)
16904-32-8 (di-hydrochloride)
2-AMINO-ETHANETHIOL
2-AMINO-ethanethiol
2-Amino-1-ethanethiol
2-Aminoethanethiol
2-Aminoethyl mercaptan
2-Mercaptoethanamine
2-Mercaptoethylamine
2-Mercaptoethylamine, polymer-bound
27761-19-9 (tartrate (1:1))
2DFDA1F8-7010-4225-8280-AB1C4C43F546
30070_FLUKA
30070_SIGMA
3037-04-5
3037-04-5 (tosylate)
42954-15-4 (hydrobromide)
60-23-1
60-23-1 (Parent)
641022_ALDRICH
93965-19-6 (maleate (1:1))
A0648
AC1L1LPL
AC1Q54NL
AKOS003793343
Aminoethyl mercaptan
Becaptan
C-9500
C01678
C2H7NS
CASH
CCRIS 3083
CHEBI:17141
CHEMBL602
CID6058
CYSTEAMINE
Cisteamina
Cisteamina [Italian]
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine [USAN:BAN]
Cysteamine bitartate
Cysteamine hydrochloride
Cysteaminium
Cysteinamine
D03634
DB00847
Decarboxycysteine
DivK1c_006750
 
EINECS 200-463-0
EINECS 221-235-7
Ethanethiolamine
HSDB 7353
KBio1_001694
KBio2_002235
KBio2_004803
KBio2_007371
KBioSS_002235
L 1573
L-1573
LS-65761
Lambraten
Lambratene
Lopac-M-6500
M9768_ALDRICH
M9768_SIGMA
MEA
MEA (mercaptan)
Mecramine
Mercamin
Mercamine
Mercaptamin
Mercaptamina
Mercaptamina [INN-Spanish]
Mercaptamine
Mercaptamine (INN)
Mercaptaminum
Mercaptaminum [INN-Latin]
Mercaptoethylamine
Merkamin
MolPort-001-662-635
NCGC00015691-01
NCGC00015691-04
NCGC00162236-01
NCI60_002000
NSC 647528
NSC647528
Riacon
STK315355
SpecPlus_000654
Spectrum_001755
Thioethanolamine
UNII-5UX2SD1KE2
WR 347
b-Aminoethanethiol
b-Aminoethylthiol
b-Mercaptoethylamine
beta-Aminoethanethiol
beta-Aminoethylthiol
beta-MEA
beta-Mercaptoethylamine
bmse000388
cysteamine bitartrate
nchembio.315-comp1
nchembio.316-comp1
β-MEA
β-aminoethylthiol
5Antirheumatic AgentsPhase 3, Phase 210627
6Trace ElementsPhase 3, Phase 25802
7MicronutrientsPhase 3, Phase 25802
8Peripheral Nervous System AgentsPhase 322776
9UbiquinonePhase 3, Phase 2139
10Anti-Inflammatory Agents, Non-SteroidalPhase 34295
11AnalgesicsPhase 311287
12Analgesics, Non-NarcoticPhase 36260
13Anti-Inflammatory AgentsPhase 310355
14
CurcuminPhase 3137458-37-7969516
Synonyms:
1,7-Bis(4-hydroxy-3-methoxyphenyl)-1,6-heptadiene-3,5-dione
1,7-Bis(4-hydroxy-3-methoxyphenyl)hepta-1,6-diene-3,5-dione
1,9-Bis(4-hydroxy-3-methoxyphenyl)-2,7-nonadiene-4,6-dione
C.I. Natural Yellow 3
CI Natural Yellow 3
Cucurmin
Curcuma
Curcumin
Curcumin I
Diferaloylmethane
Diferuloylmethane
Gelbwurz
Golden seal
Haidr
Halad
Haldar
Halud
Hydrastis
 
Indian saffron
Indian turmeric
Kacha haldi
Kurkumin [czech]
Merita earth
Natural yellow 3
Orange root
Safran D'inde
Souchet
Terra merita
Tumeric yellow
Turmeric
Turmeric (>98% curcurmin)
Turmeric oleoresin (79%-85% curcumin)
Turmeric yellow
Yellow ginger
Yellow puccoon
Yellow root
Yo-kin
Zlut prirodni 3 [Czech]
15AnestheticsPhase 39001
16Pharmaceutical SolutionsPhase 3, Phase 27793
17Anti-Infective Agents, LocalPhase 31785
18Central Nervous System DepressantsPhase 312806
19
Miconazoleapproved, investigational, vet_approvedPhase 2362422916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
20
Cyclosporineapproved, investigational, vet_approvedPhase 291579217-60-0, 59865-13-35284373, 6435893
Synonyms:
1c5f
1cyn
30024_FLUKA
30024_SIGMA
59865-13-3
79217-60-0
AC1L1EQW
AC1NQXJE
AC1NR4C4
AC1NUQK3
AC1NUZNC
AC1O5KOG
AC1Q2UDG
Ambap59865-13-3
Ambotz59865-13-3
Antibiotic S 7481F1
BMT-ABA-SAR-MLE-VAL-MLE-ALA-ALA-MLE-MLE-MVA
BMT-ABA-SAR-MLE-VAL-MLE-ALA-DAL-MLE-MLE-MVA
BPBio1_000496
BRD-A64290322-001-01-6
BRD-A69815203-001-04-3
BRD-K13533483-001-03-0
BSPBio_000450
BSPBio_001596
BSPBio_003186
C 3662
C05086
C1832_SIGMA
C3662_SIGMA
C62H111N11O12
CB-01-09 MMX
CHEBI:106343
CHEBI:328305
CHEBI:4031
CHEMBL160
CHEMBL386389
CHEMBL532318
CID2909
CID5280754
CID5284373
CID5458585
CID5497195
CID6435893
CSA
CYCLOSPORIN A (SEE ALSO TRANSGENIC MODEL EVALUATION (CYCLOSPORIN A))
CYCLOSPORIN A, USP
Ciclosporin
Ciclosporin (JP15)
Ciclosporina
Ciclosporine
Ciclosporinum
Cipol N
Cipol-N
Consupren
Consupren S
CsA
CsA & IFN.alpha.
CyA
Cyclokat
Cyclosporin
Cyclosporin A
Cyclosporin A & IFN.alpha.
Cyclosporin A Implant
Cyclosporin A, Tolypocladium inflatum
Cyclosporine (USP)
Cyclosporine A
Cyclosporine [USAN]
D00184
DE-076
DivK1c_000871
EU-0100242
Equoral
GNF-Pf-2808
Gengraf
Gengraf (TN)
HMS1569G12
HMS1791P18
HMS1921L20
HMS1989P18
HMS2089A09
HMS2092F06
HMS502L13
Helv Chim Acta 60: 1568 (1977)
 
I06-0379
I06-0966
IDI1_000871
KBio1_000871
KBio2_000780
KBio2_003348
KBio2_005916
KBio3_002686
KBioGR_001898
KBioSS_000780
LMPK14000003
LS-257
LS-58836
Lopac0_000242
MLS000028376
MLS001333756
MLS002153454
MLS002207033
Mitogard
Modusik-A
MolPort-000-760-988
MolPort-005-934-008
MolPort-006-705-994
NCGC00093704-01
NCGC00093704-02
NCGC00093704-03
NCGC00093704-04
NCGC00093704-05
NCGC00093704-06
NCGC00093704-07
NCGC00093704-08
NCGC00164258-01
NCGC00164258-02
NINDS_000871
NSC290193
Neoplanta
Neoral
Neoral (TN)
NeuroSTAT
Nova-22007
OL 27-400
OL-27400
OLO-400
Papilock
Prestwick2_000435
Prestwick3_000435
Prestwick_731
Pulminiq
Ramihyphin A
Restasis
Restasis (TN)
S-Neoral
S1514_Selleck
SDZ-OXL 400
SMR000058578
SPBio_001467
SPECTRUM1502202
ST-603
Sandimmun
Sandimmun Neoral
Sandimmune
Sandimmune (TN)
Sandimmune, Gengraf, Restasis, Atopica, Sangcya, Cyclosporine
Sang-2000
Sang-35
SangCyA
Sangcya
Sigmasporin
Sigmasporin Microoral
Spectrum2_001484
Spectrum3_001593
Spectrum4_001279
Spectrum5_001628
Spectrum_000300
TRANSGENIC MODEL EVALUATION (CYCLOSPORIN A)
Vekacia
Zyclorin
cyclophorine
cyclosporin A
cyclosporine
from Tolypocladium inflatum (Trichoderma polysporin)
nchembio.184-comp6
nchembio.301-comp5
nchembio.342-comp1
21Dermatologic AgentsPhase 25674
22Immunosuppressive AgentsPhase 212770
23Antifungal AgentsPhase 23615
24Calcineurin InhibitorsPhase 21597
25Anti-Infective AgentsPhase 221402
26Ophthalmic SolutionsPhase 21092
27Neuroprotective AgentsPhase 11672
28
Triamcinoloneapproved, vet_approved482124-94-731307
Synonyms:
(8S,9R,10S,11S,13S,14S,16R,17S)-9-fluoro-11,16,17-trihydroxy-17-(2-hydroxyacetyl)-10,13-dimethyl-6,7,8,11,12,14,15,16-octahydrocyclopenta[a]phenanthren-3-one
11-beta,16-alpha,17-alpha,21-Tetrahydroxy-9-alpha-fluoro-1,4-pregnadiene-3,20-dione
11.Beta.,16.alpha.,17.alpha., 21-Tetrahydroxy-9.alpha.-fluoro-1,4-pregnadiene-3,20-dione
11.beta.,16.alpha.,17.alpha.,21-Tetrahydroxy-9.alpha.-fluoro-1,4-pregnadiene-3,20-dione
11β,16α,17α,21-tetrahydroxy-9α-fluoro-1,4-pregnadiene-3,20-dione
124-94-7
4-08-00-03629 (Beilstein Handbook Reference)
83474-03-7
9-Fluoro-11,16,17,21-tetrahydroxypregna-1,4-diene-3,20-dione
9-Fluoro-11beta,16alpha,17,21-tetrahydroxypregna-1,4-diene-3,20-dione
9-alpha-Fluoro-11-beta,16-alpha,17,21-tetrahydroxypregna-1,4-diene-3,20-dione
9-alpha-Fluoro-16-alpha-hydroxyprednisolone
9-fluoro-11β,16α,17,21-tetrahydroxypregna-1,4-diene-3,20-dione
9.Alpha.-Fluoro-11.beta.,16.alpha.,17,21-tetrahy
9.Alpha.-Fluoro-11.beta.,16.alpha.,17.alpha., 21-tetrahydroxypregna-1,4-diene-3,20-d
9.alpha.-Fluoro-11.beta.,16.alpha.,17,21-tetrahydroxy-1,4-pregnadiene-3,20-dione
9.alpha.-Fluoro-11.beta.,16.alpha.,17,21-tetrahydroxypregna-1,4-diene-3,20-dione
9.alpha.-Fluoro-11.beta.,16.alpha.,17.alpha.,21-tetrahydroxypregna-1,4-diene-3,20-dione
9.alpha.-Fluoro-16.alpha.-hydroxyprednisolone
9alpha-Fluoro-11beta,16alpha,17,21-tetrahydroxy-1,4-pregnadiene-3,20-dione
9alpha-Fluoro-11beta,16alpha,17,21-tetrahydroxypregna-1,4-diene-3,20-dione
9alpha-Fluoro-16alpha-hydroxyprednisolone
9α-fluoro-11β,16α,17,21-tetrahydroxypregna-1,4-diene-3,20-dione
9α-fluoro-11β,16α,17α,21-tetrahydroxypregna-1,4-diene-3,20-dione
9α-fluoro-16α-hydroxyprednisolone
AC-2072
AC1L1LDH
AC1Q5HJC
Adcortyl
Aristocort
Aristocort A
Aristocort Tablets
Aristogel
Aristospan
Azmacort
BPBio1_000154
BRD-K77554836-001-03-3
BRN 2341955
BSPBio_000140
Bio-0662
C21H27FO6
CHEMBL1451
CID31307
CL 19823
Celeste
Cinolone
Cinolone-T
D00385
D014221
DB00620
Delphicort
EINECS 204-718-7
EU-0101179
Fluoxiprednisolone
Fluoxyprednisolone
Flutex
Fougera
HMS1568G22
HMS2090D12
HSDB 3194
Kenacort
Kenacort (TN)
Kenacort-A
Kenacort-AG
Kenacort-Ag
Kenalog
Kenalog in Orabase
Kenalog-10
Kenalog-40
Kenalog-H
LS-698
Ledercort
Lopac0_001179
 
MLS000028542
MLS001066543
MLS002695935
MolPort-002-528-981
Mycolog
NCGC00021580-03
NCGC00021580-04
NCGC00021580-05
NCGC00021580-06
NCGC00021580-07
NCI60_000750
NSC 13397
NSC13397
Nasacort
Nasacort Aq
Nasacort Hfa
Omcilon
Omicilon
Oracort
Oralone
Orion
Polcortolon
Pregna-1,4-diene-3,20-dio
Pregna-1,4-diene-3,20-dione, 9-fluoro-11,16,17,21-tetrahydroxy-, (11beta,16alpha)
Pregna-1,4-diene-3,20-dione, 9-fluoro-11beta,16alpha,17,21-tetrahydroxy- (8CI)
Prestwick0_000120
Prestwick1_000120
Prestwick2_000120
Prestwick3_000120
Prestwick_438
Rodinolone
S1933_Selleck
SK-Triamcinolone
SMP1_000300
SMR000058333
SPBio_002079
Sk-Triamcinolone
T6376_SIGMA
TRIAMCINOLONE (SEE ALSO TRIAMCINOLONE ACETONIDE (76-25-5) AND TRIAMCINOLONE DIACETATE (67-78-7))
Tiamcinolonum
Tiamcinolonum [INN-Latin]
Tri-Nasal
Triacet
Triacort
Triam-Tablinen
Triamcet
Triamcinalone
Triamcinlon
Triamcinolon
Triamcinolona
Triamcinolona [INN-Spanish]
Triamcinolone (JP15/USP/INN)
Triamcinolone [USAN:INN:BAN:JAN]
Triamcinolone acetonide
Triamcinolone diacetate
Triamcinolone hexacetonide
Triamcinolonum
Triamcinolonum [INN]
Triatex
Tricortale
Triderm
Trilone
Tristoject
Trymex
UNII-1ZK20VI6TY
Vetalog
Volon
Volon A
WLN: L E5 B666 OV KU MUTJ A1 BF CQ E1 FV1Q FQ GQ
ZINC03882036
droxypregna-1,4-diene-3,20-dione
ione
nchembio.2007.53-comp7
triamcinolone
29
Vitamin Eapproved, nutraceutical, vet_approved40659-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-Tocopherol
(+)-α-tocopherol
(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-TRIMETHYLTRIDECYL]CHROMAN-6-OL
(2R)-3,4-Dihydro-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol
(2R,4'R,8'R)-a-Tocopherol
(2R,4'R,8'R)-alpha-Tocopherol
(2R,4'R,8'R)-α-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
5,7,8-trimethyltocol
Amino-Opti-E
Aquasol E
D-alpha-Tocopherol
Daltose
Denamone
E-200 I.U. Softgels
 
E-Complex-600
E-Ferol
E-Vitamin succinate
Eprolin
Gordo-Vite E
Phytogermin
Phytogermine
RRR-alpha-tocopherol
RRR-alpha-tocopheryl
Tocopherol
Vitamin E
Vitamin Ea
Vitamin Plus E Softgells
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
30Triamcinolone hexacetonide482
31Triamcinolone diacetate482
32triamcinolone acetonide482
33Tocotrienol, alpha5
34Tocopherols406
35Tocotrienols402
36TocotrienolNutraceutical402
37TocopherolNutraceutical406

Interventional clinical trials:

(show all 25)
idNameStatusNCT IDPhase
1Study to Assess the Efficacy and Safety of Raxone in LHON PatientsRecruitingNCT02774005Phase 4
2A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON)CompletedNCT00528151Phase 3
3Efficacy Study of GS010 for Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the ND4 MutationRecruitingNCT02652780Phase 3
4Efficacy Study of GS010 for the Treatment of Vision Loss up to 6 Months From Onset in LHON Due to the ND4 MutationRecruitingNCT02652767Phase 3
5Open-Label, Dose-Escalating Study to Assess Safety, Tolerability, Efficacy, PK and PD of RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02023866Phase 2, Phase 3
6Study With Idebenone in Patients With Chronic Vision Loss Due to Leber's Hereditary Optic Neuropathy (LHON)WithdrawnNCT01495715Phase 3
7Trial of Cyclosporine in the Acute Phase of Leber Hereditary Optic NeuropathyUnknown statusNCT02176733Phase 2
8Study to Assess Efficacy,Safety and Tolerability of Idebenone in the Treatment of Leber's Hereditary Optic NeuropathyCompletedNCT00747487Phase 2
9A Study Investigating the Safety, Tolerability, and Efficacy of Elamipretide (MTP-131) Topical Ophthalmic Solution for the Treatment of Leber's Hereditary Optic NeuropathyRecruitingNCT02693119Phase 2
10The KHENERGY StudyRecruitingNCT02909400Phase 2
11Safety Evaluation of Gene Therapy in Leber Hereditary Optic Neuropathy (LHON) PatientsActive, not recruitingNCT02064569Phase 1, Phase 2
12A Long-Term Extension Study of RP103-MITO-001 to Assess RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02473445Phase 2
13Near-infrared Light-emitting Diode (NIR-LED) Therapy for Leber's Hereditary Optic Neuropathy (LHON)TerminatedNCT01389817Phase 1, Phase 2
14A Dose-escalating Clinical Trial With KH176CompletedNCT02544217Phase 1
15Safety Study of a Single IVT Injection of QPI-1007 in Chronic Optic Nerve Atrophy and Recent Onset NAION PatientsCompletedNCT01064505Phase 1
16Safety Study of an Adeno-associated Virus Vector for Gene Therapy of Leber's Hereditary Optic NeuropathyRecruitingNCT02161380Phase 1
17Safety and Efficacy Study of rAAV2-ND4 Treatment of Leber Hereditary Optic Neuropathy (LHON)CompletedNCT01267422
18Leber Hereditary Optic Neuropathy (LHON) Historical Case Record SurveyCompletedNCT01892943
19RHODOS Follow-up Single-visit StudyCompletedNCT01421381
20Historical Case Record Survey of Visual Acuity Data From Patients With Leber's Hereditary Optic Neuropathy (LHON)RecruitingNCT02796274
21Stem Cell Ophthalmology Treatment Study IIRecruitingNCT03011541
22Biomechanics of Optic NeuropathyRecruitingNCT02982499
23Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
24Post Authorisation Safety Study With Raxone in LHON PatientsNot yet recruitingNCT02771379
25Emergency Administration of EPI-743 to a Single Patient With Leber's Hereditary Optic Neuropathy [LHON]No longer availableNCT02300753

Search NIH Clinical Center for Leber Optic Atrophy


Cochrane evidence based reviews: optic atrophy, hereditary, leber

Genetic Tests for Leber Optic Atrophy

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Genetic tests related to Leber Optic Atrophy:

id Genetic test Affiliating Genes
1 Leber's Optic Atrophy26
2 Leber Optic Atrophy, Susceptibility to26
3 Leber Hereditary Optic Neuropathy24 MT-ND6

Anatomical Context for Leber Optic Atrophy

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MalaCards organs/tissues related to Leber Optic Atrophy:

35
Eye

Animal Models for Leber Optic Atrophy or affiliated genes

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Publications for Leber Optic Atrophy

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Articles related to Leber Optic Atrophy:

idTitleAuthorsYear
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

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UniProtKB/Swiss-Prot genetic disease variations for Leber Optic Atrophy:

69 (show all 18)
id Symbol AA change Variation ID SNP ID
1MT-ATP6p.Ile192ThrVAR_000795rs199476134
2MT-CO3p.Gly78SerVAR_002167rs267606611
3MT-CO3p.Ala200ThrVAR_002168rs200613617
4MT-CYBp.Asp171AsnVAR_002197rs41518645
5MT-CYBp.Val356MetVAR_002199rs200336777
6MT-ND1p.Ala52ThrVAR_004751rs199476118
7MT-ND2p.Asn150AspVAR_004755rs28357980
8MT-ND2p.Gly259SerVAR_004756rs199476115
9MT-ND4Lp.Val65AlaVAR_008397rs193302933
10MT-ND4p.Arg340HisVAR_004760rs199476112
11MT-ND5p.Ala458ThrVAR_004761rs28359178
12MT-ND5p.Gly465GluVAR_004762rs387906425
13MT-ND5p.Ala171ValVAR_035426rs267606899
14MT-ND6p.Met64ValVAR_004763rs199476104
15MT-ND6p.Gly36SerVAR_008395rs397515506
16MT-ND6p.Tyr59CysVAR_008396rs869025186
17MT-ND6p.Met64IleVAR_008512rs199476108
18MT-ND6p.Leu60SerVAR_014396rs199476106

Clinvar genetic disease variations for Leber Optic Atrophy:

5 (show all 45)
id Gene Variation Type Significance SNP ID Assembly Location
1CLUAP1NM_015041.2(CLUAP1): c.817C> T (p.Leu273Phe)SNVPathogenicrs751218423GRCh37Chr 16, 3573261: 3573261
2MT-ND5m.12338T> CSNVPathogenicrs201863060GRCh37Chr MT, 12338: 12338
3MT-ND3m.10237T> CSNVPathogenicrs193302927GRCh37Chr MT, 10237: 10237
4MT-ND4m.11253T> CSNVPathogenicrs200145866GRCh37Chr MT, 11253: 11253
5MT-ND5m.12811T> CSNVPathogenicrs199974018GRCh37Chr MT, 12811: 12811
6MT-ND5m.13637A> GSNVPathogenicrs200855215GRCh37Chr MT, 13637: 13637
7MT-ND6m.14325T> CSNVPathogenicrs397515505GRCh37Chr MT, 14325: 14325
8MT-ND6m.14482C> GSNVPathogenicrs199476108GRCh37Chr MT, 14482: 14482
9MT-ND6m.14498T> CSNVPathogenicrs869025186GRCh37Chr MT, 14498: 14498
10MT-ND6m.14568C> TSNVPathogenicrs397515506GRCh37Chr MT, 14568: 14568
11MT-ND6m.14279G> ASNVPathogenicrs869025187GRCh38Chr MT, 14279: 14279
12MT-CYBm.14831G> ASNVPathogenicrs199795644GRCh37Chr MT, 14831: 14831
13MT-ND1m.3635G> ASNVPathogenicrs397515507GRCh37Chr MT, 3635: 3635
14MT-ND1m.3700G> ASNVPathogenicrs397515508GRCh37Chr MT, 3700: 3700
15MT-ND1m.4025C> TSNVPathogenicrs397515509GRCh37Chr MT, 4025: 4025
16MT-ND1m.3376G> ASNVPathogenicrs397515612GRCh37Chr MT, 3376: 3376
17PEX1NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp)SNVPathogenicrs61750420GRCh37Chr 7, 92130876: 92130876
18MT-ATP6m.9101T> CSNVPathogenicrs199476134GRCh37Chr MT, 9101: 9101
19MT-CO3m.9438G> ASNVPathogenicrs267606611GRCh37Chr MT, 9438: 9438
20MT-CO3m.9804G> ASNVPathogenicrs200613617GRCh37Chr MT, 9804: 9804
21MT-CO1;MT-TS1m.7444G> ASNVPathogenicrs199474822GRCh37Chr MT, 7444: 7444
22MT-CYBm.15257G> ASNVPathogenicrs41518645GRCh37Chr MT, 15257: 15257
23MT-CYBm.15812G> ASNVPathogenicrs200336777GRCh37Chr MT, 15812: 15812
24LCA5NM_181714.3(LCA5): c.835C> T (p.Gln279Ter)SNVPathogenicrs121918165GRCh37Chr 6, 80203353: 80203353
25MT-ND6NC_012920.1: m.14484T> CSNVLikely pathogenic, Pathogenicrs199476104GRCh37Chr MT, 14484: 14484
26MT-ND6m.14459G> ASNVPathogenicrs199476105GRCh37Chr MT, 14459: 14459
27MT-ND6m.14596A> TSNVPathogenicrs387906424GRCh37Chr MT, 14596: 14596
28MT-ND6m.14495A> GSNVPathogenicrs199476106GRCh37Chr MT, 14495: 14495
29MT-ND6m.14482C> ASNVPathogenicrs199476108GRCh37Chr MT, 14482: 14482
30MT-ND5m.13708G> ASNVPathogenicrs28359178GRCh37Chr MT, 13708: 13708
31MT-ND5m.13730G> ASNVPathogenicrs387906425GRCh37Chr MT, 13730: 13730
32MT-ND5m.13045A> CSNVPathogenicrs267606895GRCh37Chr MT, 13045: 13045
33MT-ND5m.12848C> TSNVPathogenicrs267606899GRCh37Chr MT, 12848: 12848
34MT-ND4Lm.10663T> CSNVPathogenicrs193302933GRCh37Chr MT, 10663: 10663
35MT-ND4m.11778G> ASNVPathogenicrs199476112GRCh37Chr MT, 11778: 11778
36MT-ND4m.11696G> ASNVPathogenicrs200873900GRCh37Chr MT, 11696: 11696
37MT-ND2m.5244G> ASNVPathogenicrs199476115GRCh37Chr MT, 5244: 5244
38MT-ND2m.4640C> ASNVPathogenicrs387906426GRCh37Chr MT, 4640: 4640
39MT-ND1m.3460G> ASNVPathogenicrs199476118GRCh37Chr MT, 3460: 3460
40MT-ND1m.4160T> CSNVPathogenicrs199476119GRCh37Chr MT, 4160: 4160
41MT-ND1m.3394T> CSNVPathogenicrs41460449GRCh37Chr MT, 3394: 3394
42MT-ND1m.4136A> GSNVPathogenicrs199476121GRCh37Chr MT, 4136: 4136
43MT-ND1m.4171C> ASNVPathogenicrs28616230GRCh37Chr MT, 4171: 4171
44MT-ND1m.3697G> ASNVPathogenicrs199476122GRCh37Chr MT, 3697: 3697
45MT-ND1m.3733G> ASNVPathogenicrs199476125GRCh37Chr MT, 3733: 3733

Expression for genes affiliated with Leber Optic Atrophy

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

Pathways for genes affiliated with Leber Optic Atrophy

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GO Terms for genes affiliated with Leber Optic Atrophy

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

idNameGO IDScoreTop Affiliating Genes
1respiratory chain complex IVGO:004527710.8MT-CO1, MT-CO3
2ciliumGO:000592910.2CLUAP1, LCA5, MYOC
3mitochondrial respiratory chain complex IGO:000574710.1MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5
4mitochondrionGO:00057399.3MT-CO1, MT-CO3, MT-CYB, MT-ND1, MT-ND3, MT-ND4
5mitochondrial inner membraneGO:00057438.8MT-ATP6, MT-CO1, MT-CO3, MT-CYB, MT-ND1, MT-ND2
6integral component of membraneGO:00160218.7EPHX1, MT-ATP6, MT-CO1, MT-CO3, MT-ND1, MT-ND2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1response to copper ionGO:004668810.7MT-CO1, MT-CYB
2mitochondrial electron transport, cytochrome c to oxygenGO:000612310.4MT-CO1, MT-CO3
3response to hyperoxiaGO:005509310.4MT-ATP6, MT-CYB
4response to organic cyclic compoundGO:001407010.1EPHX1, MT-CYB, MT-ND1
5agingGO:00075689.9MT-ATP6, MT-CO1, MT-ND4, OPA1
6mitochondrial respiratory chain complex I assemblyGO:00329819.8MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6
7mitochondrial electron transport, NADH to ubiquinoneGO:00061209.3MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5

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

idNameGO IDScoreTop Affiliating Genes
1NADH dehydrogenase (ubiquinone) activityGO:00081379.3MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5

Sources for Leber Optic Atrophy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet