MCID: LBR002
MIFTS: 59

Leber Hereditary Optic Neuropathy malady

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

Aliases & Classifications for Leber Hereditary Optic Neuropathy

About this section

Aliases & Descriptions for Leber Hereditary Optic Neuropathy:

Name: Leber Hereditary Optic Neuropathy 11 22 46 23 24 13 52 50 68
Lhon 22 46 23 24 52 68
Leber's Optic Atrophy 11 22 23 24
Leber Optic Atrophy 46 24 52 68
Leber's Optic Neuropathy 22 23 24
Leber's Hereditary Optic Neuropathy 11 24
Hereditary Optic Neuroretinopathy 23 24
Optic Atrophy, Hereditary, Leber 37 66
Optic Atrophy Leber Type 68 25
Leber's Disease 22 23
 
Leber Optic Atrophy, Susceptibility to 12
Lebers Hereditary Optic Neuropathy 48
Leber Hereditary Optic Atrophy 24
Leber Congenital Amaurosis 66
Optic Atrophy, Leber Type 46
Leber Plus Disease 52
Leber’s Disease 46
Lhon Plus Disease 52
Loa 68

Characteristics:

Orphanet epidemiological data:

52
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:

62
leber hereditary optic neuropathy:
Inheritance: heterogeneous, mitochondrial inheritance
Onset and clinical course: incomplete penetrance


Classifications:



External Ids:

Disease Ontology11 DOID:705
ICD1028 H47.22
MeSH37 D029242
NCIt43 C84808
ICD10 via Orphanet29 H47.2
MedGen35 C0917796
OMIM50 535000

Summaries for Leber Hereditary Optic Neuropathy

About this section
OMIM:50 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 Hereditary Optic Neuropathy, also known as lhon, is related to mitochondrial complex i deficiency and leigh syndrome, and has symptoms including optic neuropathy, visual loss and centrocecal scotoma. An important gene associated with Leber Hereditary Optic Neuropathy is MT-ND6 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 6), and among its related pathways are Cardiac muscle contraction and Metformin Pathway, Pharmacodynamics. Affiliated tissues include eye, testes and spinal cord.

Genetics Home Reference:24 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:46 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: 6/14/2016

UniProtKB/Swiss-Prot:68 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.

GeneReviews summary for NBK1174

Related Diseases for Leber Hereditary Optic Neuropathy

About this section

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

(show top 50)    (show all 70)
idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial complex i deficiency30.3MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5
2leigh syndrome29.4MT-ATP6, MT-CO1, MT-CO3, MT-ND1, MT-ND2, MT-ND3
3leber hereditary optic neuropathy with dystonia12.4
4leber optic atrophy12.3
5loiasis11.8
6neuropathy11.2
7leber congenital amaurosis11.1
8alopecia, androgenetic, 210.9MT-ND1, MT-ND6
9primary syringomyelia10.9MT-CO1, MT-CO3
10clubfoot10.9MT-ND4, MT-ND5, MT-ND6
11acanthocephaliasis10.8MT-CO1, MT-ND1
12adenylosuccinase deficiency10.8MT-CO1, MT-ND4
13extrapulmonary tuberculosis10.8MT-CO1, MT-CYB, MT-ND1
14cholera10.8MT-ATP6, MT-CO1, MT-ND1
15parkinson disease 6, early onset10.8MT-ND5, MT-ND6
16otitis externa10.8MT-ND4, NDUFA1
17gastric leiomyoma10.8MT-CO1, MT-CYB, MT-ND3
18sparganosis10.8MT-CO1, MT-ND3, MT-ND5
19reproductive system disease10.8MT-ATP6, MT-CO1, MT-ND1
20lymphoepithelioma-like carcinoma10.8MT-ND1, MT-ND4, MT-ND5, MT-ND6
21paroxysomal nonkinesigenic dyskinesia10.7MT-ND1, MT-ND3, MT-ND4, MT-ND6
22multiple epiphyseal dysplasia with robin phenotype10.7MT-ND4, MT-ND5, SOD2
23enchondroma10.7MT-CO3, MT-ND5, MT-ND6, NDUFS4
24malignant perineurioma10.7NDUFS1, NDUFS4, NDUFV1
25lfng-related spondylocostal dysostosis, autosomal recessive10.7MT-CO3, NDUFS4
26adrenocortical insufficiency, without ovarian defect10.7MT-ND1, MT-ND2
27mental retardation with spastic paraplegia10.6MT-ATP6, MT-CYB, MT-ND4, MT-ND5, MT-ND6
28congenital aphakia10.6MT-CYB, MT-ND1
29african histoplasmosis10.6MT-CO1, MT-ND4
30morbid obesity and spermatogenic failure10.6MT-ND4, MT-ND6, OPA1
31urethral false passage10.6MT-ND4, OPA1
32wheat allergy10.6MT-ATP6, MT-CO3, MT-ND1, MT-ND4, MT-ND5, MT-ND6
33tinea nigra10.5MT-CO3, MT-CYB, MT-ND1, MT-ND4, MT-ND5, MT-ND6
34parkinson disease, late-onset10.5MT-ND1, MT-ND5, NDUFS4, SOD2
35noninfectious dermatoses of eyelid10.5MT-ND1, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, NDUFA1
36restless legs syndrome10.5MT-CYB, MT-ND4
37retinitis10.4
38myoclonic epilepsy associated with ragged-red fibers10.4MT-ATP6, MT-CO1, MT-CO3, MT-ND1, MT-ND4, MT-ND5
39genital herpes10.4MT-ATP6, MT-CYB, MT-ND1, MT-ND4, MT-ND4L, MT-ND5
40dystonia10.4
41filariasis10.4
42onchocerciasis10.4
43mitochondrial membrane protein-associated neurodegeneration10.3MT-ATP6, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4
44syphilitic encephalitis10.3MT-CO1, MT-ND1
45neuromyelitis optica10.3
46mitochondrial neurogastrointestinal encephalopathy disease10.2MT-ATP6, MT-ND1, MT-ND4, MT-ND5, MT-ND6, NDUFS4
47optic atrophy 110.2
48childhood cerebral astrocytoma10.2MT-ATP6, MT-ND3, MT-ND5, MT-ND6, NDUFA1, NDUFS1
49leukemia10.2
50encephalopathy10.2

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



Diseases related to leber hereditary optic neuropathy

Symptoms for Leber Hereditary Optic Neuropathy

About this section

Symptoms by clinical synopsis from OMIM:

535000

Clinical features from OMIM:

535000

HPO human phenotypes related to Leber Hereditary Optic Neuropathy:

(show all 12)
id Description Frequency HPO Source Accession
1 optic neuropathy frequent (33%) HP:0001138
2 visual loss HP:0000572
3 centrocecal scotoma HP:0000576
4 optic atrophy HP:0000648
5 leber optic atrophy HP:0001112
6 ataxia HP:0001251
7 polyneuropathy HP:0001271
8 dystonia HP:0001332
9 postural tremor HP:0002174
10 myopathy HP:0003198
11 central retinal vessel vascular tortuosity HP:0007768
12 arrhythmia HP:0011675

UMLS symptoms related to Leber Hereditary Optic Neuropathy:


ataxia, static tremor

Drugs & Therapeutics for Leber Hereditary Optic Neuropathy

About this section

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

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1idebenonePhase 4, Phase 3, Phase 22158186-27-9
2UbiquinonePhase 3, Phase 2132
3
CurcuminPhase 3131458-37-7969516
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]
4
CysteaminePhase 2, Phase 32660-23-16058
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
5
MiconazolePhase 2357322916-47-84189
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
6
Triamcinolone463124-94-731307
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
7triamcinolone acetonide463
8
vitamin eNutraceutical39259-02-914985
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
9TocopherolNutraceutical395
10TocotrienolNutraceutical391

Interventional clinical trials:

(show all 23)
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
7Study to Assess Efficacy,Safety and Tolerability of Idebenone in the Treatment of Leber's Hereditary Optic NeuropathyCompletedNCT00747487Phase 2
8A Study Investigating the Safety, Tolerability, and Efficacy of Elamipretide (MTP-131) Topical Ophthalmic Solution for the Treatment of Leber's Hereditary Optic NeuropathyRecruitingNCT02693119Phase 2
9Trial of Cyclosporine in the Acute Phase of Leber Hereditary Optic NeuropathyRecruitingNCT02176733Phase 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
14Safety Study of a Single IVT Injection of QPI-1007 in Chronic Optic Nerve Atrophy and Recent Onset NAION PatientsCompletedNCT01064505Phase 1
15A Dose-escalating Clinical Trial With KH176CompletedNCT02544217Phase 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
21Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
22Post Authorisation Safety Study With Raxone in LHON PatientsNot yet recruitingNCT02771379
23Emergency Administration of EPI-743 to a Single Patient With Leber's Hereditary Optic Neuropathy [LHON]No longer availableNCT02300753

Search NIH Clinical Center for Leber Hereditary Optic Neuropathy


Cochrane evidence based reviews: optic atrophy, hereditary, leber

Genetic Tests for Leber Hereditary Optic Neuropathy

About this section

Genetic tests related to Leber Hereditary Optic Neuropathy:

id Genetic test Affiliating Genes
1 Leber's Optic Atrophy25
2 Leber Optic Atrophy, Susceptibility to25
3 Leber Hereditary Optic Neuropathy23 MT-ND6

Anatomical Context for Leber Hereditary Optic Neuropathy

About this section

MalaCards organs/tissues related to Leber Hereditary Optic Neuropathy:

34
Eye, Testes, Spinal cord, Thyroid

Animal Models for Leber Hereditary Optic Neuropathy or affiliated genes

About this section

Publications for Leber Hereditary Optic Neuropathy

About this section

Articles related to Leber Hereditary Optic Neuropathy:

(show top 50)    (show all 237)
idTitleAuthorsYear
1
Leber Hereditary Optic Neuropathy Associated with Bilateral Macular Holes. (27335507)
2016
2
New MT-ND1 pathologic mutation for Leber hereditary optic neuropathy. (24800637)
2014
3
Leber hereditary optic neuropathy in the population of Serbia. (24508359)
2014
4
Safety and effects of the vector for the Leber hereditary optic neuropathy gene therapy clinical trial. (24457989)
2014
5
m.3635G&gt;A mutation as a cause of Leber hereditary optic neuropathy. (24747208)
2014
6
Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations. (24198293)
2013
7
Posterior reversible encephalopathy syndrome in a leber hereditary optic neuropathy patient with mitochondrial DNA 11778G&gt;A point mutation. (23782927)
2013
8
Meta-analysis of the prevalence of Leber hereditary optic neuropathy mtDNA mutations in Europe. (21928272)
2012
9
Is Leber hereditary optic neuropathy treatable? Encouraging results with idebenone in both prospective and retrospective trials and an illustrative case. (22269948)
2012
10
Clinical and electrophysiological recovery in Leber hereditary optic neuropathy with G3460A mutation. (22684678)
2012
11
Visual observations of an American patient with Leber hereditary optic neuropathy after purported injections of stem cells in China. (22491931)
2012
12
Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy. (21203403)
2010
13
Evaluation of the X-linked modifier loci for Leber hereditary optic neuropathy with the G11778A mutation in Chinese. (20300564)
2010
14
Another case of leber hereditary optic neuropathy in an octogenarian. (19491649)
2009
15
Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy. (18363168)
2008
16
Protection against oxidant-induced apoptosis by exogenous glutathione in Leber hereditary optic neuropathy cybrids. (18235013)
2008
17
Leber hereditary optic neuropathy mutations in the ND6 subunit of mitochondrial complex I affect ubiquinone reduction kinetics in a bacterial model of the enzyme. (17894548)
2008
18
Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus. (18216301)
2008
19
Leber hereditary optic neuropathy presenting in a 75-year-old man. (18562849)
2008
20
Phosphorylated neurofilament heavy chain is a marker of neurodegeneration in Leber hereditary optic neuropathy (LHON). (19104679)
2008
21
Is there alteration in aortic stiffness in Leber hereditary optic neuropathy? (18320530)
2008
22
Mechanisms of retinal ganglion specific-cell death in Leber hereditary optic neuropathy. (18427623)
2007
23
Partial mitochondrial complex I inhibition induces oxidative damage and perturbs glutamate transport in primary retinal cultures. Relevance to Leber Hereditary Optic Neuropathy (LHON). (16959493)
2006
24
Transmission of heteroplasmic G11778A in extensive pedigrees of Thai Leber hereditary optic neuropathy. (17072496)
2006
25
Subclinical carriers and conversions in Leber hereditary optic neuropathy: a prospective psychophysical study. (17471325)
2006
26
Leber hereditary optic neuropathy: biochemical lights in a blurry scenario. (15883256)
2005
27
Leber hereditary optic neuropathy--a disease with a known molecular basis but a mysterious mechanism of pathology. (14617834)
2003
28
The epidemiology of Leber hereditary optic neuropathy in the North East of England. (12518276)
2003
29
Leber hereditary optic neuropathy: a nuclear solution of a mitochondrial problem. (12402246)
2002
30
Leber hereditary optic neuropathy associated with use of ephedra alkaloids. (12470769)
2002
31
Rescue of a mitochondrial deficiency causing Leber Hereditary Optic Neuropathy. (12402249)
2002
32
Genetic counseling in Leber hereditary optic neuropathy (LHON). (11906302)
2002
33
Leber hereditary optic neuropathy, progressive visual loss, and multiple-sclerosis-like symptoms. (11589893)
2001
34
Leber hereditary optic neuropathy: clinical and molecular genetic findings. (11523562)
2001
35
Microphotometric analysis of NADH-tetrazolium reductase deficiency in fibroblasts of patients with Leber hereditary optic neuropathy. (11117434)
2000
36
A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy. (11124301)
2000
37
Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect. (10631164)
2000
38
Leber hereditary optic neuropathy: respiratory chain dysfunction and degeneration of the optic nerve. (9667014)
1998
39
Disease relevance of the so-called secondary Leber hereditary optic neuropathy mutations. (9199577)
1997
40
Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve? (9239541)
1997
41
Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. (9150158)
1997
42
The 14484 ND6 mtDNA mutation in Leber hereditary optic neuropathy does not affect fibroblast complex I activity. (8533781)
1995
43
Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy. (7821467)
1994
44
Pathological significance of the mtDNA COX III mutation at nucleotide pair 9438 in Leber hereditary optic neuropathy. (8037217)
1994
45
A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. (8016139)
1994
46
Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy. (7977345)
1994
47
Cytochrome c oxidase mutations in Leber hereditary optic neuropathy. (8240356)
1993
48
Leber hereditary optic neuropathy in Australia. (1449769)
1992
49
Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy. (1415219)
1992
50
Cytochrome b mutations in Leber hereditary optic neuropathy. (1764087)
1991

Variations for Leber Hereditary Optic Neuropathy

About this section

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

68 (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_008396
17MT-ND6p.Met64IleVAR_008512rs199476108
18MT-ND6p.Leu60SerVAR_014396rs199476106

Clinvar genetic disease variations for Leber Hereditary Optic Neuropathy:

5 (show all 43)
id Gene Variation Type Significance SNP ID Assembly Location
1MT-ND5m.12338T> Csingle nucleotide variantPathogenicrs201863060GRCh37Chr MT, 12338: 12338
2MT-ND3m.10237T> Csingle nucleotide variantPathogenicrs193302927GRCh37Chr MT, 10237: 10237
3MT-ND4m.11253T> Csingle nucleotide variantPathogenicrs200145866GRCh37Chr MT, 11253: 11253
4MT-ND5m.12811T> Csingle nucleotide variantPathogenicrs199974018GRCh37Chr MT, 12811: 12811
5MT-ND5m.13637A> Gsingle nucleotide variantPathogenicrs200855215GRCh37Chr MT, 13637: 13637
6MT-ND6m.14325T> Csingle nucleotide variantPathogenicrs397515505GRCh37Chr MT, 14325: 14325
7MT-ND6m.14482C> Gsingle nucleotide variantPathogenicrs199476108GRCh37Chr MT, 14482: 14482
8MT-ND6m.14498T> Csingle nucleotide variantPathogenicrs869025186GRCh37Chr MT, 14498: 14498
9MT-ND6m.14568C> Tsingle nucleotide variantPathogenicrs397515506GRCh37Chr MT, 14568: 14568
10MT-ND6m.14279G> Asingle nucleotide variantPathogenicrs869025187GRCh38Chr MT, 14279: 14279
11MT-CYBm.14831G> Asingle nucleotide variantPathogenicrs199795644GRCh37Chr MT, 14831: 14831
12MT-ND1m.3635G> Asingle nucleotide variantPathogenicrs397515507GRCh37Chr MT, 3635: 3635
13MT-ND1m.3700G> Asingle nucleotide variantPathogenicrs397515508GRCh37Chr MT, 3700: 3700
14MT-ND1m.4025C> Tsingle nucleotide variantPathogenicrs397515509GRCh37Chr MT, 4025: 4025
15MT-ND1m.3376G> Asingle nucleotide variantPathogenicrs397515612GRCh37Chr MT, 3376: 3376
16PEX1NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp)single nucleotide variantPathogenicrs61750420GRCh37Chr 7, 92130876: 92130876
17MT-ATP6m.9101T> Csingle nucleotide variantPathogenicrs199476134GRCh37Chr MT, 9101: 9101
18MT-CO3m.9438G> Asingle nucleotide variantPathogenicrs267606611GRCh37Chr MT, 9438: 9438
19MT-CO3m.9804G> Asingle nucleotide variantPathogenicrs200613617GRCh37Chr MT, 9804: 9804
20m.7444G> Asingle nucleotide variantPathogenicrs199474822GRCh37Chr MT, 7444: 7444
21MT-CYBm.15257G> Asingle nucleotide variantPathogenicrs41518645GRCh37Chr MT, 15257: 15257
22MT-CYBm.15812G> Asingle nucleotide variantPathogenicrs200336777GRCh37Chr MT, 15812: 15812
23MT-ND6NC_012920.1: m.14484T> Csingle nucleotide variantLikely pathogenic, Pathogenicrs199476104GRCh37Chr MT, 14484: 14484
24MT-ND6m.14459G> Asingle nucleotide variantPathogenicrs199476105GRCh37Chr MT, 14459: 14459
25MT-ND6m.14596A> Tsingle nucleotide variantPathogenicrs387906424GRCh37Chr MT, 14596: 14596
26MT-ND6m.14495A> Gsingle nucleotide variantPathogenicrs199476106GRCh37Chr MT, 14495: 14495
27MT-ND6m.14482C> Asingle nucleotide variantPathogenicrs199476108GRCh37Chr MT, 14482: 14482
28MT-ND5m.13708G> Asingle nucleotide variantPathogenicrs28359178GRCh37Chr MT, 13708: 13708
29MT-ND5m.13730G> Asingle nucleotide variantPathogenicrs387906425GRCh37Chr MT, 13730: 13730
30MT-ND5m.13045A> Csingle nucleotide variantPathogenicrs267606895GRCh37Chr MT, 13045: 13045
31MT-ND5m.12848C> Tsingle nucleotide variantPathogenicrs267606899GRCh37Chr MT, 12848: 12848
32MT-ND4Lm.10663T> Csingle nucleotide variantPathogenicrs193302933GRCh37Chr MT, 10663: 10663
33MT-ND4m.11778G> Asingle nucleotide variantPathogenicrs199476112GRCh37Chr MT, 11778: 11778
34MT-ND4m.11696G> Asingle nucleotide variantPathogenicrs200873900GRCh37Chr MT, 11696: 11696
35MT-ND2m.5244G> Asingle nucleotide variantPathogenicrs199476115GRCh37Chr MT, 5244: 5244
36MT-ND2m.4640C> Asingle nucleotide variantPathogenicrs387906426GRCh37Chr MT, 4640: 4640
37MT-ND1m.3460G> Asingle nucleotide variantPathogenicrs199476118GRCh37Chr MT, 3460: 3460
38MT-ND1m.4160T> Csingle nucleotide variantPathogenicrs199476119GRCh37Chr MT, 4160: 4160
39MT-ND1m.3394T> Csingle nucleotide variantPathogenicrs41460449GRCh37Chr MT, 3394: 3394
40MT-ND1m.4136A> Gsingle nucleotide variantPathogenicrs199476121GRCh37Chr MT, 4136: 4136
41MT-ND1m.4171C> Asingle nucleotide variantPathogenicrs28616230GRCh37Chr MT, 4171: 4171
42MT-ND1m.3697G> Asingle nucleotide variantPathogenicrs199476122GRCh37Chr MT, 3697: 3697
43MT-ND1m.3733G> Asingle nucleotide variantPathogenicrs199476125GRCh37Chr MT, 3733: 3733

Expression for genes affiliated with Leber Hereditary Optic Neuropathy

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

Pathways for genes affiliated with Leber Hereditary Optic Neuropathy

About this section

GO Terms for genes affiliated with Leber Hereditary Optic Neuropathy

About this section

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

idNameGO IDScoreTop Affiliating Genes
1respiratory chain complex IVGO:004527710.8MT-CO1, MT-CO3
2mitochondrial respiratory chain complex IGO:00057479.9MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5
3mitochondrionGO:00057398.8MT-CO1, MT-CO3, MT-CYB, MT-ND1, MT-ND3, MT-ND4
4mitochondrial inner membraneGO:00057438.6MT-ATP6, MT-CO1, MT-CO3, MT-CYB, MT-ND1, MT-ND2
5integral component of membraneGO:00160218.5EPHX1, MT-ATP6, MT-CO1, MT-CO3, MT-ND1, MT-ND2

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1response to copper ionGO:004668810.7MT-CO1, MT-CYB
2apoptotic mitochondrial changesGO:000863710.7NDUFS1, SOD2
3aerobic respirationGO:000906010.6MT-CO1, NDUFV1
4regulation of mitochondrial membrane potentialGO:005188110.6NDUFS1, SOD2
5mitochondrial electron transport, cytochrome c to oxygenGO:000612310.5MT-CO1, MT-CO3
6response to cadmium ionGO:004668610.5MT-CYB, SOD2
7cellular respirationGO:004533310.5NDUFS1, NDUFS4
8response to hyperoxiaGO:005509310.4MT-ATP6, MT-CYB, SOD2
9response to hydrogen peroxideGO:004254210.4MT-ND5, MT-ND6, SOD2
10response to electrical stimulusGO:005160210.2MT-CO1, SOD2
11response to oxidative stressGO:000697910.2MT-CO1, MT-ND3, SOD2
12response to organic cyclic compoundGO:001407010.2EPHX1, MT-CYB, MT-ND1
13reactive oxygen species metabolic processGO:007259310.0MT-ND2, NDUFS1, NDUFS4
14mitochondrial respiratory chain complex I assemblyGO:00329819.6MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6
15agingGO:00075689.5MT-ATP6, MT-CO1, MT-ND4, OPA1, SOD2
16mitochondrial electron transport, NADH to ubiquinoneGO:00061209.2MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5

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

idNameGO IDScoreTop Affiliating Genes
1NADH dehydrogenase (ubiquinone) activityGO:00081379.0MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5

Sources for Leber Hereditary Optic Neuropathy

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet