MCID: LBR002
MIFTS: 58

Leber Hereditary Optic Neuropathy malady

Genetic diseases, Rare diseases, Eye diseases, Metabolic diseases, Neuronal diseases categories

Aliases & Classifications for Leber Hereditary Optic Neuropathy

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Aliases & Descriptions for Leber Hereditary Optic Neuropathy:

Name: Leber Hereditary Optic Neuropathy 10 21 45 23 12 51 49 67
Lhon 21 45 22 23 51 67
Leber Optic Atrophy 45 23 51 67
Leber's Hereditary Optic Neuropathy 10 22 23
Hereditary Optic Neuroretinopathy 21 22 23
Optic Atrophy, Leber Type 45 22 24
Leber's Optic Neuropathy 21 22 23
Leber's Optic Atrophy 10 21 23
Optic Atrophy, Hereditary, Leber 65 36
Leber’s Disease 45 22
 
Leber Optic Atrophy, Susceptibility to 11
Lebers Hereditary Optic Neuropathy 47
Leber Hereditary Optic Atrophy 23
Leber Congenital Amaurosis 65
Optic Atrophy Leber Type 67
Optic Atrophy, Leber's 10
Leber Plus Disease 51
Leber's Disease 21
Loa 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
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


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Disease Ontology10 DOID:705
MeSH36 D029242
NCIt42 C84808
Orphanet51 104, 99718
ICD10 via Orphanet28 H47.2
OMIM49 535000
MedGen34 C0917796

Summaries for Leber Hereditary Optic Neuropathy

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OMIM:49 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 metabolism disease and mitochondrial disorders, 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 Dehydrogenase 6), and among its related pathways are Cardiac muscle contraction and Metformin Pathway, Pharmacodynamics. Affiliated tissues include eye, testes and thyroid.

NIH Rare Diseases:45 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. this condition is caused by mutations in the mt-nd1, mt-nd4, mt-nd4l, and mt-nd6 genes. last updated: 12/2/2011

Genetics Home Reference:23 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.

UniProtKB/Swiss-Prot:67 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 lhon

Related Diseases for Leber Hereditary Optic Neuropathy

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

(show top 50)    (show all 150)
idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial metabolism disease31.3MT-CO3, MT-CYB, MT-ND1, MT-ND4, MT-ND5, MT-ND6
2mitochondrial disorders31.2MT-ATP6, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4
3mitochondrial complex i deficiency30.9MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6
4leigh syndrome30.4MT-ATP6, MT-CO1, MT-CO3, MT-ND1, MT-ND2, MT-ND3
5neuropathy11.5
6loiasis10.8
7leber hereditary optic neuropathy with dystonia10.8
8dystonia10.7
9retinitis10.7
103-methylglutaconic aciduria, type iii10.6
11leber optic atrophy10.6
12foster-kennedy syndrome10.6
13spiradenoma10.6
14cranial nerve disease10.6
15eye disease10.6
16globe disease10.6
17nervous system disease10.6
18optic nerve disease10.6
19neurologic diseases10.6
20mitochondrial genetic disorders10.6
21hereditary neuropathies10.6
22filariasis10.6
23neuromyelitis optica10.6
24optic atrophy 210.6
25onchocerciasis10.6
26optic atrophy 110.5
27optic atrophy 410.5
28leukemia10.5
29primary optic atrophy10.5
30encephalopathy10.5
31spasticity10.5
32parkinson disease 6, early onset10.4MT-ND5, MT-ND6
33secondary syringomyelia10.4MT-CO1, MT-CO3
34arthrogryposis with oculomotor limitation and electroretinal anomalies10.4MT-CO1, MT-ND4
35mesocestoidiasis10.4MT-CO1, MT-ND1
36filarial elephantiasis10.4
37blood protein disease10.4
38elephantiasis10.4
39drug rash with eosinophilia and systemic symptoms10.4
40congenital horner syndrome10.4MT-CO1, MT-ND1
41visual epilepsy10.4MT-ND1, MT-ND4, MT-ND5
42myocarditis10.4MT-CO1, MT-ND1
43angioid streaks10.3MT-ATP6, MT-CO1, MT-ND1
44chronic myeloproliferative disease10.3MT-CO1, MT-ND4L
45gastric leiomyoma10.3MT-CO1, MT-CYB, MT-ND3
46leptin deficiency10.3MT-CO3, NDUFS4
47leber miliary aneurysm10.3MT-ND1, MT-ND3, MT-ND4, MT-ND6
48tauopathy10.3MT-CO1, MT-ND1
49acquired gastric outlet stenosis10.3MT-CYB, MT-ND4
50huntington disease10.3

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

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Symptoms by clinical synopsis from OMIM:

535000

Clinical features from OMIM:

535000

HPO human phenotypes related to Leber Hereditary Optic Neuropathy:

(show all 15)
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 heterogeneous HP:0001425
10 mitochondrial inheritance HP:0001427
11 postural tremor HP:0002174
12 myopathy HP:0003198
13 incomplete penetrance HP:0003829
14 central retinal vessel vascular tortuosity HP:0007768
15 arrhythmia HP:0011675

Drugs & Therapeutics for Leber Hereditary Optic Neuropathy

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

(show all 15)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Cysteamineapproved, investigationalPhase 2, Phase 32260-23-16058
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]
Cystagon
Cystaran
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine Bitartrate
Cysteamine Hydrochloride
Cysteamine [USAN:BAN]
Cysteamine bitartate
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
nchembio.315-comp1
nchembio.316-comp1
β-MEA
β-aminoethylthiol
2
CurcuminPhase 3120458-37-7969516
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]
3idebenonePhase 3, Phase 217
4
Miconazoleapproved, investigationalPhase 2291222916-47-84189
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
Desenex
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
Makesense
Micantin (nitrate)
Micatin
 
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
Oravig
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
Rash Relief Antifungal
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
5CyclosporinsPhase 2849
6
Triamcinoloneapproved429124-94-731307
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
11beta,16alpha,17alpha,21-Tetrahydroxy-9alpha-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.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-11beta,16alpha,17alpha,21-tetrahydroxypregna-1,4-diene-3,20-dione
9alpha-Fluoro-16alpha-hydroxyprednisolone
9α-fluoro-16α-hydroxyprednisolone
AC-2072
AC1L1LDH
AC1Q5HJC
Adcortyl
Allernaze
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 Acetonide
Triamcinolone [USAN:INN:BAN:JAN]
Triamcinolone acetonide
Triamcinolone diacetate
Triamcinolone hexacetonide
Triamcinolonum
Triamcinolonum [INN]
Trianex
Triatex
Tricortale
Triderm
Triesence
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
7
Vitamin Eapproved, nutraceutical35059-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-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)-alpha-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-alpha-tocopherol
(R,R,R)-α-tocopherol
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
Vitamin e
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
d-alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
8Triamcinolone hexacetonide429
9Triamcinolone diacetate429
10triamcinolone acetonide429
11Tocotrienol, alpha5
12Tocopherols355
13Tocotrienols352
14TocotrienolNutraceutical352
15TocopherolNutraceutical355

Interventional clinical trials:

(show all 19)
idNameStatusNCT IDPhase
1A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON)CompletedNCT00528151Phase 3
2Efficacy Study of GS010 for Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the ND4 MutationRecruitingNCT02652780Phase 3
3Efficacy Study of GS010 for the Treatment of Vision Loss up to 6 Months From Onset in LHON Due to the ND4 MutationRecruitingNCT02652767Phase 3
4Open-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
5Study With Idebenone in Patients With Chronic Vision Loss Due to Leber's Hereditary Optic Neuropathy (LHON)WithdrawnNCT01495715Phase 3
6Study to Assess Efficacy,Safety and Tolerability of Idebenone in the Treatment of Leber's Hereditary Optic NeuropathyCompletedNCT00747487Phase 2
7Trial of Cyclosporine in the Acute Phase of Leber Hereditary Optic NeuropathyRecruitingNCT02176733Phase 2
8Safety Evaluation of Gene Therapy in Leber Hereditary Optic Neuropathy (LHON) PatientsActive, not recruitingNCT02064569Phase 1, Phase 2
9A Long-Term Extension Study of RP103-MITO-001 to Assess RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02473445Phase 2
10A Study Investigating the Safety, Tolerability, and Efficacy of MTP-131 Topical Ophthalmic Solution for the Treatment of Leber's Hereditary Optic NeuropathyNot yet recruitingNCT02693119Phase 2
11Near-infrared Light-emitting Diode (NIR-LED) Therapy for Leber's Hereditary Optic Neuropathy (LHON)TerminatedNCT01389817Phase 1, Phase 2
12Safety Study of a Single IVT Injection of QPI-1007 in Chronic Optic Nerve Atrophy and Recent Onset NAION PatientsCompletedNCT01064505Phase 1
13A Dose-escalating Clinical Trial With KH176CompletedNCT02544217Phase 1
14Safety Study of an Adeno-associated Virus Vector for Gene Therapy of Leber's Hereditary Optic NeuropathyRecruitingNCT02161380Phase 1
15Safety and Efficacy Study of rAAV2-ND4 Treatment of Leber Hereditary Optic Neuropathy (LHON)CompletedNCT01267422
16Leber Hereditary Optic Neuropathy (LHON) Historical Case Record SurveyCompletedNCT01892943
17RHODOS Follow-up Single-visit StudyCompletedNCT01421381
18Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
19Emergency Administration of EPI-743 to a Single Patient With Leber's Hereditary Optic Neuropathy [LHON]No longer availableNCT02300753

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Cochrane evidence based reviews: Optic Atrophy, Hereditary, Leber

Genetic Tests for Leber Hereditary Optic Neuropathy

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Genetic tests related to Leber Hereditary Optic Neuropathy:

id Genetic test Affiliating Genes
1 Leber Hereditary Optic Neuropathy22 MT-ND6
2 Leber's Optic Atrophy24

Anatomical Context for Leber Hereditary Optic Neuropathy

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MalaCards organs/tissues related to Leber Hereditary Optic Neuropathy:

33
Eye, Testes, Thyroid

Animal Models for Leber Hereditary Optic Neuropathy or affiliated genes

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Publications for Leber Hereditary Optic Neuropathy

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Articles related to Leber Hereditary Optic Neuropathy:

(show top 50)    (show all 224)
idTitleAuthorsYear
1
Leber hereditary optic neuropathy: current perspectives. (26170609)
2015
2
Is there treatment for Leber hereditary optic neuropathy? (26448041)
2015
3
Parkinsonism in a patient with Leber hereditary optic neuropathy (LHON). (25917160)
2015
4
New MT-ND1 pathologic mutation for Leber hereditary optic neuropathy. (24800637)
2014
5
Leber hereditary optic neuropathy in the population of Serbia. (24508359)
2014
6
Intravitreal delivery of AAV-NDI1 provides functional benefit in a murine model of Leber hereditary optic neuropathy. (22669418)
2013
7
Are we there yet? Is neuro-ophthalmology at the cusp of a paradigm shift? Lessons from leber hereditary optic neuropathy. (23681244)
2013
8
Late-onset Leber hereditary optic neuropathy. (23433437)
2013
9
Effects of idebenone on color vision in patients with leber hereditary optic neuropathy. (23263355)
2013
10
Raised intraocular pressure as a potential risk factor for visual loss in Leber Hereditary Optic Neuropathy. (23667621)
2013
11
Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans. (22517755)
2012
12
Neuromyelitis optica antibody in Leber hereditary optic neuropathy: case report. (23258662)
2012
13
Meta-analysis of the prevalence of Leber hereditary optic neuropathy mtDNA mutations in Europe. (21928272)
2012
14
Mutations for Leber hereditary optic neuropathy in patients with alcohol and tobacco optic neuropathy. (22194643)
2011
15
Leber hereditary optic neuropathy mimicking neuromyelitis optica. (21734595)
2011
16
Mitochondrial haplogroup background may influence Southeast Asian G11778A Leber hereditary optic neuropathy. (21398275)
2011
17
Leber hereditary optic neuropathy: some new observations. (21317730)
2011
18
Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy. (21203403)
2010
19
Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of Leber hereditary optic neuropathy. (20460595)
2010
20
Molecular characterization of six Chinese families with m.3460G>A and Leber hereditary optic neuropathy. (20232220)
2010
21
Selective wavelength pupillometry in Leber hereditary optic neuropathy. (20447133)
2010
22
Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy. (18363168)
2008
23
Protection against oxidant-induced apoptosis by exogenous glutathione in Leber hereditary optic neuropathy cybrids. (18235013)
2008
24
A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia. (17562939)
2007
25
Progression of visual field defects in leber hereditary optic neuropathy: experience of the LHON treatment trial. (16765674)
2006
26
Demyelinating polyneuropathy in Leber hereditary optic neuropathy. (16690316)
2006
27
The unique characteristics of Thai Leber hereditary optic neuropathy: analysis of 30 G11778A pedigrees. (16477364)
2006
28
Proportion of 11778 mutant mitochondrial DNA and clinical expression in a thai population with leber hereditary optic neuropathy. (16148621)
2005
29
Leber hereditary optic neuropathy--a disease with a known molecular basis but a mysterious mechanism of pathology. (14617834)
2003
30
Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy. (12736867)
2003
31
Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy. (12888043)
2003
32
The epidemiology of Leber hereditary optic neuropathy in the North East of England. (12518276)
2003
33
Migraine-like disorder segregating with mtDNA 14484 Leber hereditary optic neuropathy mutation. (12601121)
2003
34
Leber hereditary optic neuropathy: a nuclear solution of a mitochondrial problem. (12402246)
2002
35
Optic nerve enhancement in leber hereditary optic neuropathy: four years later. (11937919)
2002
36
Leber hereditary optic neuropathy, progressive visual loss, and multiple-sclerosis-like symptoms. (11589893)
2001
37
The Leber hereditary optic neuropathy 14,484 mutation and X-linked adrenoleukodystrophy: a possible modifier of phenotypic expression? (10472539)
1999
38
Detection of mitochondrial DNA nucleotide 11778 point mutation of Leber hereditary optic neuropathy from archival stained histopathological preparations. (9541429)
1998
39
Leber hereditary optic neuropathy: respiratory chain dysfunction and degeneration of the optic nerve. (9667014)
1998
40
Neuromyelitis optica (Devic's syndrome): no association with the primary mitochondrial DNA mutations found in Leber hereditary optic neuropathy. (9010406)
1997
41
Disease relevance of the so-called secondary Leber hereditary optic neuropathy mutations. (9199577)
1997
42
Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy. (9143920)
1997
43
Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. (9012411)
1997
44
Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy. (7821467)
1994
45
Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON). (8213820)
1993
46
Finger prick blood testing in Leber hereditary optic neuropathy. (8318469)
1993
47
Leber hereditary optic neuropathy in Australia. (1449769)
1992
48
A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. (1463007)
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
Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation. (2018041)
1991

Variations for Leber Hereditary Optic Neuropathy

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

67 (show all 21)
id Symbol AA change Variation ID SNP ID
1MT-ATP6p.Ile192ThrVAR_000795
2MT-CO3p.Gly78SerVAR_002167
3MT-CO3p.Ala200ThrVAR_002168
4MT-CYBp.Asp171AsnVAR_002197
5MT-CYBp.Val356MetVAR_002199
6MT-ND1p.Tyr30HisVAR_004748
7MT-ND1p.Ala52ThrVAR_004751
8MT-ND1p.Leu285ProVAR_004753
9MT-ND1p.Tyr304HisVAR_004754
10MT-ND2p.Asn150AspVAR_004755
11MT-ND2p.Gly259SerVAR_004756
12MT-ND4Lp.Val65AlaVAR_008397
13MT-ND4p.Arg340HisVAR_004760
14MT-ND5p.Ala458ThrVAR_004761rs28359178
15MT-ND5p.Gly465GluVAR_004762
16MT-ND5p.Ala171ValVAR_035426
17MT-ND6p.Met64ValVAR_004763
18MT-ND6p.Gly36SerVAR_008395
19MT-ND6p.Tyr59CysVAR_008396
20MT-ND6p.Met64IleVAR_008512
21MT-ND6p.Leu60SerVAR_014396

Clinvar genetic disease variations for Leber Hereditary Optic Neuropathy:

5 (show all 44)
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.14498C> Tsingle nucleotide variantPathogenicGRCh37Chr MT, 14498: 14498
9MT-ND6m.14568C> Tsingle nucleotide variantPathogenicrs397515506GRCh37Chr MT, 14568: 14568
10MT-TEm.14729G> Asingle nucleotide variantPathogenicGRCh38Chr MT, 14729: 14729
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
16MT-ATP6m.9101T> Csingle nucleotide variantPathogenicrs199476134GRCh37Chr MT, 9101: 9101
17MT-CO3m.9438G> Asingle nucleotide variantPathogenicrs267606611GRCh37Chr MT, 9438: 9438
18MT-CO3m.9804G> Asingle nucleotide variantPathogenicrs200613617GRCh37Chr MT, 9804: 9804
19m.7444G> Asingle nucleotide variantPathogenicrs199474822GRCh37Chr MT, 7444: 7444
20MT-CYBm.15257G> Asingle nucleotide variantPathogenicrs41518645GRCh37Chr MT, 15257: 15257
21MT-CYBm.15812G> Asingle nucleotide variantPathogenicrs200336777GRCh37Chr MT, 15812: 15812
22MT-ND6NC_012920.1: m.14484T> Csingle nucleotide variantPathogenicrs199476104GRCh37Chr MT, 14484: 14484
23MT-ND6m.14459G> Asingle nucleotide variantPathogenicrs199476105GRCh37Chr MT, 14459: 14459
24MT-ND6m.14596A> Tsingle nucleotide variantPathogenicrs387906424GRCh37Chr MT, 14596: 14596
25MT-ND6m.14495A> Gsingle nucleotide variantPathogenicrs199476106GRCh37Chr MT, 14495: 14495
26MT-ND6m.14482C> Asingle nucleotide variantPathogenicrs199476108GRCh37Chr MT, 14482: 14482
27MT-ND5m.13708G> Asingle nucleotide variantPathogenicrs28359178GRCh37Chr MT, 13708: 13708
28MT-ND5m.13730G> Asingle nucleotide variantPathogenicrs387906425GRCh37Chr MT, 13730: 13730
29MT-ND5m.13045A> Csingle nucleotide variantPathogenicrs267606895GRCh37Chr MT, 13045: 13045
30MT-ND5m.12848C> Tsingle nucleotide variantPathogenicrs267606899GRCh37Chr MT, 12848: 12848
31MT-ND4Lm.10663T> Csingle nucleotide variantPathogenicrs193302933GRCh37Chr MT, 10663: 10663
32MT-ND4m.11778G> Asingle nucleotide variantPathogenicrs199476112GRCh37Chr MT, 11778: 11778
33MT-ND4m.11696G> Asingle nucleotide variantPathogenicrs200873900GRCh37Chr MT, 11696: 11696
34MT-ND3m.10197G> Asingle nucleotide variantPathogenicrs267606891GRCh37Chr MT, 10197: 10197
35MT-ND2m.4917A> Gsingle nucleotide variantrisk factorrs28357980GRCh37Chr MT, 4917: 4917
36MT-ND2m.5244G> Asingle nucleotide variantPathogenicrs199476115GRCh37Chr MT, 5244: 5244
37MT-ND2m.4640C> Asingle nucleotide variantPathogenicrs387906426GRCh37Chr MT, 4640: 4640
38MT-ND1m.3460G> Asingle nucleotide variantPathogenicrs199476118GRCh37Chr MT, 3460: 3460
39MT-ND1m.4160T> Csingle nucleotide variantPathogenicrs199476119GRCh37Chr MT, 4160: 4160
40MT-ND1m.3394T> Csingle nucleotide variantPathogenicrs41460449GRCh37Chr MT, 3394: 3394
41MT-ND1m.4136A> Gsingle nucleotide variantPathogenicrs199476121GRCh37Chr MT, 4136: 4136
42MT-ND1m.4171C> Asingle nucleotide variantPathogenicrs28616230GRCh37Chr MT, 4171: 4171
43MT-ND1m.3697G> Asingle nucleotide variantPathogenicrs199476122GRCh37Chr MT, 3697: 3697
44MT-ND1m.3733G> Asingle nucleotide variantPathogenicrs199476125GRCh37Chr MT, 3733: 3733

Expression for genes affiliated with Leber Hereditary Optic Neuropathy

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

Pathways for genes affiliated with Leber Hereditary Optic Neuropathy

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GO Terms for genes affiliated with Leber Hereditary Optic Neuropathy

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

idNameGO IDScoreTop Affiliating Genes
1respiratory chain complex IVGO:004527711.0MT-CO1, MT-CO3
2mitochondrial respiratory chain complex IGO:00057479.9MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5
3mitochondrial inner membraneGO:00057438.6MT-ATP6, MT-CO1, MT-CO3, MT-CYB, MT-ND1, MT-ND2
4integral component of membraneGO:00160218.5EPHX1, MT-ATP6, MT-CO1, MT-CO3, MT-ND1, MT-ND2
5mitochondrionGO:00057398.5MT-ATP6, MT-CO1, MT-CO3, MT-CYB, MT-ND1, MT-ND2

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1response to copper ionGO:004668810.8MT-CO1, MT-CYB
2response to organonitrogen compoundGO:001024310.8MT-CYB, MT-ND5
3regulation of mitochondrial membrane potentialGO:005188110.8NDUFS1, SOD2
4response to electrical stimulusGO:005160210.7MT-CO1, SOD2
5cellular respirationGO:004533310.7NDUFS1, NDUFS4
6ATP synthesis coupled electron transportGO:004277310.7MT-ND4, MT-ND4L, MT-ND5, NDUFS1
7response to hyperoxiaGO:005509310.7MT-ATP6, MT-CYB, SOD2
8apoptotic mitochondrial changesGO:000863710.6NDUFS1, SOD2
9response to hydrogen peroxideGO:004254210.6MT-ND5, MT-ND6, SOD2
10response to organic cyclic compoundGO:001407010.6EPHX1, MT-CYB, MT-ND1
11hydrogen ion transmembrane transportGO:190260010.6MT-CO1, MT-CO3, MT-CYB
12response to cadmium ionGO:004668610.5MT-CYB, SOD2
13reactive oxygen species metabolic processGO:007259310.3MT-ND2, NDUFS1, NDUFS4
14response to oxidative stressGO:000697910.2MT-CO1, MT-ND3, SOD2
15mitochondrial electron transport, NADH to ubiquinoneGO:000612010.1MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5
16response to hypoxiaGO:00016669.9MT-CYB, MT-ND4, MT-ND5, SOD2
17agingGO:00075689.5MT-ATP6, MT-CO1, MT-ND4, OPA1, SOD2
18oxidation-reduction processGO:00551149.3MT-CO1, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L
19cellular metabolic processGO:00442379.1MT-ATP6, MT-CO1, MT-CO3, MT-CYB, MT-ND1, MT-ND2
20respiratory electron transport chainGO:00229048.9MT-ATP6, MT-CO1, MT-CO3, MT-CYB, MT-ND1, MT-ND2
21small molecule metabolic processGO:00442818.6EPHX1, MT-ATP6, MT-CO1, MT-CO3, MT-CYB, MT-ND1

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

idNameGO IDScoreTop Affiliating Genes
1oxidoreductase activity, acting on NAD(P)HGO:001665110.5MT-ND4L, NDUFS1, NDUFS4
2cytochrome-c oxidase activityGO:000412910.3MT-CO1, MT-CO3
3electron carrier activityGO:000905510.1MT-CO1, MT-CYB, NDUFS1
4NADH dehydrogenase (ubiquinone) activityGO:00081379.7MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5

Sources for Leber Hereditary Optic Neuropathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet