MCID: LBR030
MIFTS: 54

Leber Optic Atrophy

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

Aliases & Classifications for Leber Optic Atrophy

MalaCards integrated aliases for Leber Optic Atrophy:

Name: Leber Optic Atrophy 54 50 25 56 71 38
Leber Hereditary Optic Neuropathy 12 23 50 24 25 56 54 71 14
Lhon 23 50 24 25 56 71
Leber's Optic Atrophy 12 23 24 25 29
Leber's Optic Neuropathy 23 24 25
Leber Optic Atrophy, Susceptibility to 29 13
Leber's Hereditary Optic Neuropathy 12 25
Hereditary Optic Neuroretinopathy 24 25
Optic Atrophy, Hereditary, Leber 42 69
Leber's Disease 23 24
Lebers Hereditary Optic Neuropathy 52
Leber Hereditary Optic Atrophy 25
Leber Congenital Amaurosis 69
Optic Atrophy, Leber Type 50
Optic Atrophy Leber Type 71
Leber Plus Disease 56
Lhon Plus Disease 56
Leber’s Disease 50
Loa 71

Characteristics:

Orphanet epidemiological data:

56
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;

OMIM:

54
Miscellaneous:
genetic heterogeneity
onset 1-70 years of age (95% by early 50's)
incomplete penetrance - approximately 50% males and 10% females with a pathogenic mtdna mutation develop the optic neuropathy
prevalence of 1 in 30,000 in northern europe
estimated mutation carrier rate of 1 in 350
the majority of patients (~95%) have 1 of 3 mtdna point mutations (g3460a )

Inheritance:
mitochondrial
x-linked


HPO:

32
leber hereditary optic neuropathy:
Onset and clinical course incomplete penetrance
Inheritance heterogeneous mitochondrial inheritance

leber optic atrophy:
Inheritance x-linked inheritance


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:



Summaries for Leber Optic Atrophy

OMIM : 54
LHON presents in midlife as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with many missense mutations in the mtDNA that can act autonomously or in association with each other to cause the disease. The 18 allelic variants are MTND6*LDYT14459A (516006.0002); MTND4*LHON11778A (516003.0001); MTND1*LHON3460A (516000.0001); MTND6*LHON14484C (516006.0001); MTCYB*LHON15257A (516020.0001); MTCO3*LHON9438A (516050.0001); MTCO3*LHON9804A (516050.0002 ); MTND5*LHON13730A (516005.0002); MTND1*LHON4160C (516000.0002); MTND2*LHON5244A (516001.0002); MTCOI*LHON7444A (516030.0001); MTND1*LHON3394C (516000.0004); MTND5*LHON13708A (516005.0001); MTCYB*LHON15812A (516020.0002); MTND2*LHON4917G (516001.0001); MTND1*LHON4216C (516000.0003); MTND1*LHON4136G (516000.0002); MTATP6*LHON9101C (516060.0003); MTND4L*LHON10663C (516004.0002). The first 17 of these variants are summarized in Table M1, MIM12. As pointed out by Riordan-Eva and Harding (1995), although the plethora of mtDNA mutations identified in families with LHON had resulted in confusion as to the pathogenic significance of each mutation, it had been established that the 3 primary mutations at basepairs 11778 (516003.0001), 3460 (516000.0001), and 14484 (516006.0001) are present in at least 90% of families. The correlation between the 14484 mutation and a good visual prognosis provides not only hope for affected patients, but also an approach for further research into the pathogenesis of LHON. Yu-Wai-Man et al. (2009) provided a detailed review of LHON and autosomal dominant optic atrophy (OPA1; 165500), with emphasis on the selective vulnerability of retinal ganglion cells to mitochondrial dysfunction in both disorders. (535000)

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 atrophy, ataxia and peripheral neuropathy. An important gene associated with Leber Optic Atrophy is MT-ND6 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 6), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Idebenone and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include eye.

NIH Rare Diseases : 50 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: 3/13/2017

UniProtKB/Swiss-Prot : 71 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.

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.

GeneReviews: NBK1174

Related Diseases for Leber Optic Atrophy

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

(show top 50) (show all 59)
id Related Disease Score Top Affiliating Genes
1 loiasis 12.0
2 leber hereditary optic neuropathy with dystonia 11.2
3 leber congenital amaurosis 11.0
4 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 11.0
5 parkinson disease 6, early onset 10.9 MT-ND5 MT-ND6
6 nipah virus disease 10.9 MT-CO1 MT-CO3
7 adenylosuccinase deficiency 10.9 MT-CO1 MT-ND4
8 q fever 10.9 MT-CO1 MT-ND5
9 extrapulmonary tuberculosis 10.8 MT-CO1 MT-CYB MT-ND1
10 papillary ependymoma 10.8 MT-CO1 MT-CYB
11 acanthocephaliasis 10.8 MT-CO1 MT-ND1
12 reproductive system disease 10.8 MT-ATP6 MT-CO1 MT-ND1
13 sparganosis 10.8 MT-CO1 MT-ND3 MT-ND5
14 bacterial meningitis 10.8 MT-ND4 NDUFA1
15 familial episodic pain syndrome 10.8 MT-CO1 MT-CYB MT-ND4L
16 congenital fiber-type disproportion 10.8 MT-ATP6 MT-TK
17 disease of mental health 10.8 MT-ATP6 MT-CO1 MT-ND1
18 mitochondrial dna depletion syndrome 14 10.8 OPA1 OPA3
19 orofacial cleft 15 10.8 MT-CO1 MT-CYB
20 leiner disease 10.8 MT-ND1 MT-ND3 MT-ND4 MT-ND6
21 extrapontine myelinolysis 10.7 MT-ND3 MT-ND5
22 multiple epiphyseal dysplasia with robin phenotype 10.7 MT-ND4 MT-ND5 MT-TK
23 lmna-related emery-dreifuss muscular dystrophy, autosomal 10.7 MT-CO3 NDUFS4 OPA3
24 gastric leiomyoma 10.7 MT-CO1 MT-CYB MT-ND3 MT-ND4
25 viral infectious disease 10.7 MT-ND4 OPA1
26 enchondromatosis dwarfism deafness 10.7 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6
27 charcot-marie-tooth disease, dominant intermediate f 10.7 MT-ND4 MT-TK OPA3
28 histoplasmosis retinitis 10.7 MT-CO1 MT-ND4
29 behr syndrome 10.6 MT-ND4 MT-ND6 OPA1 OPA3
30 syphilitic encephalitis 10.6 MT-CO1 MT-ND1
31 pleomorphic carcinoma 10.6 MT-ND1 MT-ND4 MT-ND5 MT-ND6 OPA3
32 fetal akinesia deformation sequence 10.6 MT-CO1 MT-CYB
33 cutaneous mastocytosis 10.5 MT-ATP6 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6
34 functional diarrhea 10.5 MT-CYB MT-ND1
35 decubitus ulcer 10.5 MT-ATP6 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6
36 mental retardation with spastic paraplegia 10.4 MT-ATP6 MT-CYB MT-ND4 MT-ND5 MT-ND6 MT-TK
37 onchocerciasis 10.3
38 filariasis 10.3
39 mixed germ cell tumor of central nervous system 10.2 NDUFS2 NDUFS4
40 allergic contact dermatitis of eyelid 10.1 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MYOC NDUFA1
41 mitochondrial neurogastrointestinal encephalopathy disease 10.0 MT-ATP6 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4
42 encephalopathy 10.0
43 protoplasmic astrocytoma 9.9 MT-ATP6 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK
44 myoclonic epilepsy associated with ragged-red fibers 9.9 MT-ATP6 MT-CO1 MT-CO3 MT-ND1 MT-ND3 MT-ND4
45 heart disease 9.9
46 endomyocardial fibrosis 9.9
47 angioedema 9.9
48 neuronitis 9.9
49 meningoencephalitis 9.9
50 mitochondrial complex i deficiency 9.8 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5

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



Diseases related to Leber Optic Atrophy

Symptoms & Phenotypes for Leber Optic Atrophy

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
ataxia
postural tremor
movement disorders
multiple sclerosis-like illness
spastic dystonia

Cardiovascular- Heart:
cardiac arrhythmia

Head And Neck- Eyes:
blurred/cloudy vision (acute phase)
centrocecal scotoma (acute phase)
central retinal vessel vascular tortuosity (acute phase)
circumpapillary telangiectatic microangiopathy (acute phase)
swelling of retinal nerve fiber layer (acute phase)
more
Neurologic- Peripheral Nervous System:
peripheral neuropathy

Eyes:
susceptibility to optic atrophy

Muscle Soft Tissue:
nonspecific myopathy


Clinical features from OMIM:

308905 535000

Human phenotypes related to Leber Optic Atrophy:

56 32 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 optic atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0000648
2 ataxia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001251
3 peripheral neuropathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0009830
4 myopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0003198
5 arrhythmia 56 32 Occasional (29-5%) HP:0011675
6 central scotoma 56 32 frequent (33%) Frequent (79-30%) HP:0000603
7 blurred vision 56 32 frequent (33%) Frequent (79-30%) HP:0000622
8 postural tremor 56 32 occasional (7.5%) Occasional (29-5%) HP:0002174
9 centrocecal scotoma 56 32 frequent (33%) Frequent (79-30%) HP:0000576
10 retinal telangiectasia 56 32 frequent (33%) Frequent (79-30%) HP:0007763
11 slow decrease in visual acuity 56 32 hallmark (90%) Very frequent (99-80%) HP:0007924
12 mitochondrial respiratory chain defects 56 32 hallmark (90%) Very frequent (99-80%) HP:0200125
13 retinal vascular tortuosity 56 32 frequent (33%) Frequent (79-30%) HP:0012841
14 ventricular preexcitation 56 32 occasional (7.5%) Occasional (29-5%) HP:0004309
15 dystonia 32 HP:0001332
16 polyneuropathy 32 HP:0001271
17 visual loss 32 HP:0000572
18 optic neuropathy 32 frequent (33%) HP:0001138
19 leber optic atrophy 32 HP:0001112
20 central retinal vessel vascular tortuosity 32 HP:0007768

UMLS symptoms related to Leber Optic Atrophy:


ataxia, static tremor

Drugs & Therapeutics for Leber Optic Atrophy

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

(show all 37)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Idebenone Approved, Investigational Phase 4,Phase 3,Phase 2 58186-27-9
2 Antioxidants Phase 4,Phase 3,Phase 2
3 Protective Agents Phase 4,Phase 3,Phase 2
4
Curcumin Investigational Phase 3 458-37-7 969516
5 Antirheumatic Agents Phase 3,Phase 2
6 Analgesics Phase 3
7 Analgesics, Non-Narcotic Phase 3
8 Anti-Inflammatory Agents Phase 3
9 Anti-Inflammatory Agents, Non-Steroidal Phase 3
10 Peripheral Nervous System Agents Phase 3
11 Micronutrients Phase 3,Phase 2
12 Trace Elements Phase 3,Phase 2
13 Ubiquinone Phase 3,Phase 2
14 Anesthetics Phase 3
15 Anti-Infective Agents, Local Phase 3
16 Central Nervous System Depressants Phase 3
17 Pharmaceutical Solutions Phase 3,Phase 2
18
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
19
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
20 Antifungal Agents Phase 2
21 Anti-Infective Agents Phase 2
22 Calcineurin Inhibitors Phase 2
23 Cyclosporins Phase 2
24 Dermatologic Agents Phase 2
25 Immunosuppressive Agents Phase 2
26 Ophthalmic Solutions Phase 2
27 Neuroprotective Agents Phase 1
28
Triamcinolone Approved, Vet_approved 124-94-7 31307
29 Tocopherol Approved, Nutraceutical
30
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
31 triamcinolone acetonide
32 Triamcinolone diacetate
33 Triamcinolone hexacetonide
34 Tocopherols
35 Tocotrienol, alpha
36 Tocotrienols
37 Tocotrienol Investigational, Nutraceutical 6829-55-6

Interventional clinical trials:

(show all 27)

id Name Status NCT ID Phase Drugs
1 Study to Assess the Efficacy and Safety of Raxone in LHON Patients Recruiting NCT02774005 Phase 4 Idebenone
2 A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON) Completed NCT00528151 Phase 3 curcumin
3 Safety and Efficacy Study of Gene Therapy for The Treatment of Leber's Hereditary Optic Neuropathy Recruiting NCT03153293 Phase 2, Phase 3 rAAV2-ND4;normal saline
4 Efficacy Study of GS010 for Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the ND4 Mutation Active, not recruiting NCT02652780 Phase 3
5 Efficacy Study of GS010 for the Treatment of Vision Loss up to 6 Months From Onset in LHON Due to the ND4 Mutation Active, not recruiting NCT02652767 Phase 3
6 Efficacy and Safety Study of Bilateral Intravitreal Injection of GS010 for the Treatment of Vision Loss up to 1 Year From Onset in LHON Due to the ND4 Mutation Not yet recruiting NCT03293524 Phase 3 Placebo
7 Study With Idebenone in Patients With Chronic Vision Loss Due to Leber's Hereditary Optic Neuropathy (LHON) Withdrawn NCT01495715 Phase 3 Idebenone;Placebo
8 Trial of Cyclosporine in the Acute Phase of Leber Hereditary Optic Neuropathy Unknown status NCT02176733 Phase 2 cyclosporine
9 Study to Assess Efficacy,Safety and Tolerability of Idebenone in the Treatment of Leber's Hereditary Optic Neuropathy Completed NCT00747487 Phase 2 Idebenone;Placebo
10 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2 Cysteamine Bitartrate
11 The KHENERGY Study Recruiting NCT02909400 Phase 2 KH176;placebo
12 Safety Evaluation of Gene Therapy in Leber Hereditary Optic Neuropathy (LHON) Patients Active, not recruiting NCT02064569 Phase 1, Phase 2
13 A Study Investigating the Safety, Tolerability, and Efficacy of Elamipretide (MTP-131) Topical Ophthalmic Solution for the Treatment of Leber's Hereditary Optic Neuropathy Active, not recruiting NCT02693119 Phase 2 elamipretide (MTP-131) 1% topical ophthalmic solution;Vehicle topical ophthalmic solution
14 Near-infrared Light-emitting Diode (NIR-LED) Therapy for Leber's Hereditary Optic Neuropathy (LHON) Terminated NCT01389817 Phase 1, Phase 2
15 A Dose-escalating Clinical Trial With KH176 Completed NCT02544217 Phase 1 KH176;placebo
16 Safety Study of a Single IVT Injection of QPI-1007 in Chronic Optic Nerve Atrophy and Recent Onset NAION Patients Completed NCT01064505 Phase 1 QPI-1007 at various doses
17 Safety Study of an Adeno-associated Virus Vector for Gene Therapy of Leber's Hereditary Optic Neuropathy Recruiting NCT02161380 Phase 1 injection of scAAV2-P1ND4v2 5.00x10e9 vg (Low),;injection of scAAV2-P1ND4v2 2.46X10e10 vg (Med);injection of scAAV2-P1ND4v2 1.0X10e11vg (High)
18 Safety and Efficacy Study of rAAV2-ND4 Treatment of Leber Hereditary Optic Neuropathy (LHON) Completed NCT01267422 rAAV2-ND4
19 RHODOS Follow-up Single-visit Study Completed NCT01421381
20 Leber Hereditary Optic Neuropathy (LHON) Historical Case Record Survey Completed NCT01892943
21 Historical Case Record Survey of Visual Acuity Data From Patients With Leber's Hereditary Optic Neuropathy (LHON) Recruiting NCT02796274
22 Post Authorisation Safety Study With Raxone in LHON Patients Recruiting NCT02771379 Idebenone
23 Biomechanics of Optic Neuropathy Recruiting NCT02982499
24 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541
25 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
26 REALITY LHON Registry Not yet recruiting NCT03295071
27 Emergency Administration of EPI-743 to a Single Patient With Leber's Hereditary Optic Neuropathy [LHON] No longer available NCT02300753 EPI-743

Search NIH Clinical Center for Leber Optic Atrophy

Cochrane evidence based reviews: optic atrophy, hereditary, leber

Genetic Tests for Leber Optic Atrophy

Genetic tests related to Leber Optic Atrophy:

id Genetic test Affiliating Genes
1 Leber's Optic Atrophy 29
2 Leber Optic Atrophy, Susceptibility to 29
3 Leber Hereditary Optic Neuropathy 24 MT-ND6

Anatomical Context for Leber Optic Atrophy

MalaCards organs/tissues related to Leber Optic Atrophy:

39
Eye

Publications for Leber Optic Atrophy

Articles related to Leber Optic Atrophy:

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

Variations for Leber Optic Atrophy

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

71 (show all 18)
id Symbol AA change Variation ID SNP ID
1 MT-ATP6 p.Ile192Thr VAR_000795 rs199476134
2 MT-CO3 p.Gly78Ser VAR_002167 rs267606611
3 MT-CO3 p.Ala200Thr VAR_002168 rs200613617
4 MT-CYB p.Asp171Asn VAR_002197 rs41518645
5 MT-CYB p.Val356Met VAR_002199 rs200336777
6 MT-ND1 p.Ala52Thr VAR_004751 rs199476118
7 MT-ND2 p.Asn150Asp VAR_004755 rs28357980
8 MT-ND2 p.Gly259Ser VAR_004756 rs199476115
9 MT-ND4L p.Val65Ala VAR_008397 rs193302933
10 MT-ND4 p.Arg340His VAR_004760 rs199476112
11 MT-ND5 p.Ala458Thr VAR_004761 rs28359178
12 MT-ND5 p.Gly465Glu VAR_004762 rs387906425
13 MT-ND5 p.Ala171Val VAR_035426 rs267606899
14 MT-ND6 p.Met64Val VAR_004763 rs199476104
15 MT-ND6 p.Gly36Ser VAR_008395 rs397515506
16 MT-ND6 p.Tyr59Cys VAR_008396 rs869025186
17 MT-ND6 p.Met64Ile VAR_008512 rs199476108
18 MT-ND6 p.Leu60Ser VAR_014396 rs199476106

ClinVar genetic disease variations for Leber Optic Atrophy:

6 (show all 40)
id Gene Variation Type Significance SNP ID Assembly Location
1 MT-ATP6 m.9101T> C single nucleotide variant Pathogenic rs199476134 GRCh37 Chromosome MT, 9101: 9101
2 MT-CO3 m.9438G> A single nucleotide variant Pathogenic rs267606611 GRCh37 Chromosome MT, 9438: 9438
3 MT-CO3 m.9804G> A single nucleotide variant Pathogenic rs200613617 GRCh37 Chromosome MT, 9804: 9804
4 MT-CO1; MT-TS1 m.7444G> A single nucleotide variant Pathogenic rs199474822 GRCh37 Chromosome MT, 7444: 7444
5 MT-CYB m.15812G> A single nucleotide variant Pathogenic rs200336777 GRCh37 Chromosome MT, 15812: 15812
6 MT-ND6 NC_012920.1: m.14484T> C single nucleotide variant Pathogenic/Likely pathogenic rs199476104 GRCh37 Chromosome MT, 14484: 14484
7 MT-ND6 m.14459G> A single nucleotide variant Pathogenic rs199476105 GRCh37 Chromosome MT, 14459: 14459
8 MT-ND6 m.14596A> T single nucleotide variant Pathogenic rs387906424 GRCh37 Chromosome MT, 14596: 14596
9 MT-ND6 m.14495A> G single nucleotide variant Pathogenic rs199476106 GRCh37 Chromosome MT, 14495: 14495
10 MT-ND6 m.14482C> A single nucleotide variant Pathogenic rs199476108 GRCh37 Chromosome MT, 14482: 14482
11 MT-ND5 m.13730G> A single nucleotide variant Pathogenic rs387906425 GRCh37 Chromosome MT, 13730: 13730
12 MT-ND5 m.13045A> C single nucleotide variant Pathogenic rs267606895 GRCh37 Chromosome MT, 13045: 13045
13 MT-ND5 m.12848C> T single nucleotide variant Pathogenic rs267606899 GRCh37 Chromosome MT, 12848: 12848
14 MT-ND4L m.10663T> C single nucleotide variant Pathogenic rs193302933 GRCh37 Chromosome MT, 10663: 10663
15 MT-ND4 NC_012920.1: m.11778G> A single nucleotide variant Pathogenic rs199476112 GRCh37 Chromosome MT, 11778: 11778
16 MT-ND4 m.11696G> A single nucleotide variant Pathogenic rs200873900 GRCh37 Chromosome MT, 11696: 11696
17 MT-ND2 m.5244G> A single nucleotide variant Pathogenic rs199476115 GRCh37 Chromosome MT, 5244: 5244
18 MT-ND2 m.4640C> A single nucleotide variant Pathogenic rs387906426 GRCh37 Chromosome MT, 4640: 4640
19 MT-ND1 NC_012920.1: m.3460G> A single nucleotide variant Pathogenic rs199476118 GRCh37 Chromosome MT, 3460: 3460
20 MT-ND1 m.4160T> C single nucleotide variant Pathogenic rs199476119 GRCh37 Chromosome MT, 4160: 4160
21 MT-ND1 m.3394T> C single nucleotide variant Pathogenic rs41460449 GRCh37 Chromosome MT, 3394: 3394
22 MT-ND1 m.4136A> G single nucleotide variant Pathogenic rs199476121 GRCh37 Chromosome MT, 4136: 4136
23 MT-ND1 m.4171C> A single nucleotide variant Pathogenic rs28616230 GRCh37 Chromosome MT, 4171: 4171
24 MT-ND1 m.3697G> A single nucleotide variant Pathogenic rs199476122 GRCh37 Chromosome MT, 3697: 3697
25 MT-ND1 m.3733G> A single nucleotide variant Pathogenic rs199476125 GRCh37 Chromosome MT, 3733: 3733
26 MT-ND5 m.12338T> C single nucleotide variant Pathogenic rs201863060 GRCh37 Chromosome MT, 12338: 12338
27 MT-ND3 m.10237T> C single nucleotide variant Pathogenic rs193302927 GRCh37 Chromosome MT, 10237: 10237
28 MT-ND4 m.11253T> C single nucleotide variant Pathogenic rs200145866 GRCh37 Chromosome MT, 11253: 11253
29 MT-ND5 m.12811T> C single nucleotide variant Pathogenic rs199974018 GRCh37 Chromosome MT, 12811: 12811
30 MT-ND5 m.13637A> G single nucleotide variant Pathogenic rs200855215 GRCh37 Chromosome MT, 13637: 13637
31 MT-ND6 m.14325T> C single nucleotide variant Pathogenic rs397515505 GRCh37 Chromosome MT, 14325: 14325
32 MT-ND6 m.14482C> G single nucleotide variant Pathogenic rs199476108 GRCh37 Chromosome MT, 14482: 14482
33 MT-ND6 m.14498T> C single nucleotide variant Pathogenic rs869025186 GRCh37 Chromosome MT, 14498: 14498
34 MT-ND6 m.14568C> T single nucleotide variant Pathogenic rs397515506 GRCh37 Chromosome MT, 14568: 14568
35 MT-ND6 m.14279G> A single nucleotide variant Pathogenic rs869025187 GRCh38 Chromosome MT, 14279: 14279
36 MT-CYB m.14831G> A single nucleotide variant Pathogenic rs199795644 GRCh37 Chromosome MT, 14831: 14831
37 MT-ND1 m.3635G> A single nucleotide variant Pathogenic rs397515507 GRCh37 Chromosome MT, 3635: 3635
38 MT-ND1 m.3700G> A single nucleotide variant Pathogenic rs397515508 GRCh37 Chromosome MT, 3700: 3700
39 MT-ND1 m.4025C> T single nucleotide variant Pathogenic rs397515509 GRCh37 Chromosome MT, 4025: 4025
40 MT-ND1 m.3376G> A single nucleotide variant Pathogenic rs397515612 GRCh37 Chromosome MT, 3376: 3376

Expression for Leber Optic Atrophy

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

Pathways for Leber Optic Atrophy

GO Terms for Leber Optic Atrophy

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrial membrane GO:0031966 9.8 MT-ND1 MT-ND3 MT-ND4 MT-ND4L MT-ND6 NDUFA1
2 respiratory chain GO:0070469 9.73 MT-CO1 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4
3 respiratory chain complex IV GO:0045277 9.4 MT-CO1 MT-CO3
4 mitochondrial respiratory chain complex I GO:0005747 9.28 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5
5 mitochondrial respiratory chain complex III GO:0005750 9.16 MT-CYB
6 membrane GO:0016020 10.3 EPHX1 MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1
7 integral component of membrane GO:0016021 10.28 EPHX1 MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1
8 mitochondrion GO:0005739 10.07 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND3 MT-ND4
9 mitochondrial inner membrane GO:0005743 10.03 MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND2

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

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.93 MT-CO1 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4
2 response to organic cyclic compound GO:0014070 9.72 EPHX1 MT-CYB MT-ND1
3 response to oxidative stress GO:0006979 9.69 MT-CO1 MT-ND3 NDUFS2
4 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.65 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5
5 aging GO:0007568 9.62 MT-ATP6 MT-CO1 MT-ND4 OPA1
6 cellular respiration GO:0045333 9.54 MT-ND1 NDUFS4
7 hydrogen ion transmembrane transport GO:1902600 9.54 MT-CO1 MT-CO3 MT-CYB
8 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.49 MT-CO1 MT-CO3
9 respiratory electron transport chain GO:0022904 9.48 MT-CO3 MT-CYB
10 mitochondrion morphogenesis GO:0070584 9.46 OPA1 OPA3
11 response to hyperoxia GO:0055093 9.43 MT-ATP6 MT-CYB
12 ATP synthesis coupled electron transport GO:0042773 9.43 MT-ND4 MT-ND4L MT-ND5
13 response to copper ion GO:0046688 9.4 MT-CO1 MT-CYB
14 mitochondrial respiratory chain complex I assembly GO:0032981 9.28 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6
15 response to electrical stimulus GO:0051602 9.26 MT-CO1
16 cellular response to glucocorticoid stimulus GO:0071385 9.22 MT-ND3

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

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.65 MT-CO1 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4
2 electron carrier activity GO:0009055 9.5 MT-CO1 MT-CYB NDUFS2
3 oxidoreductase activity, acting on NAD(P)H GO:0016651 9.33 MT-ND4L NDUFS2 NDUFS4
4 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.32 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5
5 NADH dehydrogenase activity GO:0003954 8.96 NDUFS2

Sources for Leber Optic Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
38 LifeMap
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42 MeSH
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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