LOAM
MCID: LBR038
MIFTS: 64

Leber Hereditary Optic Neuropathy, Modifier of (LOAM)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Leber Hereditary Optic Neuropathy, Modifier of

MalaCards integrated aliases for Leber Hereditary Optic Neuropathy, Modifier of:

Name: Leber Hereditary Optic Neuropathy, Modifier of 57 73 36
Leber Hereditary Optic Neuropathy 57 11 24 19 42 58 73 14 38
Leber Optic Atrophy 57 19 42 58 75 73 28 5
Lhon 57 24 19 42 58 73
Leber Optic Atrophy, Susceptibility to 57 28 12 5
Leber's Hereditary Optic Neuropathy 11 24 42
Leber's Optic Atrophy 11 24 42
Optic Atrophy, Hereditary, Leber 43 71
Leber's Optic Neuropathy 24 42
Leber's Disease 24 19
Loam 57 73
Loas 57 73
Leber Hereditary Optic Neuropathy Susceptibility 73
Modifier of Leber Hereditary Optic Neuropathy 73
Leber Hereditary Optic Neuropathy, Modifier 73
Lebers Hereditary Optic Neuropathy 53
Hereditary Optic Neuroretinopathy 42
Leber Hereditary Optic Atrophy 42
Leber Congenital Amaurosis 71
Optic Atrophy, Leber Type 19
Optic Atrophy Leber Type 73
Lhon, Modifier of 57
Loa 73

Characteristics:


Inheritance:

Leber Hereditary Optic Neuropathy, Modifier of: X-linked dominant 57
Leber Hereditary Optic Neuropathy: Mitochondrial inheritance 58

Prevelance:

Leber Hereditary Optic Neuropathy: 1-9/100000 58

Age Of Onset:

Leber Hereditary Optic Neuropathy: Adolescent,Adult 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset mainly in the second decade of life


GeneReviews:

24
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 it must be stressed that penetrance can vary markedly in different branches of the same family and between families with the same lhon-causing mtdna pathogenic variant, which complicates genetic counseling at the individual level....

Classifications:

Orphanet: 58  
Rare eye diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 11 DOID:705
OMIM® 57 308905 535000
MeSH 43 D029242
NCIt 49 C84808
SNOMED-CT 68 194045006
ICD10 via Orphanet 32 H47.2
UMLS via Orphanet 72 C0917796
Orphanet 58 ORPHA104
UMLS 71 C0339527 C0917796

Summaries for Leber Hereditary Optic Neuropathy, Modifier of

OMIM® 57 Leber hereditary optic neuropathy, modifier of: Leber optic atrophy, also known as Leber hereditary optic atrophy (LHON; 535000), is characterized by bilateral, painless, subacute central vision loss in young adults resulting from primary degeneration of retinal ganglion cells (RGCs) accompanied by ascending optic atrophy (summary by Yu et al., 2020). Variation in mitochondrial DNA (mtDNA) contributes to the pathogenesis of the disease. Modifier of Leber optic atrophy (LOAM) exhibits increased penetrance and earlier age of onset compared to Leber optic atrophy caused by the LHON11778A mutation in the MTND4 gene (516003.0001) alone, due to the action of mutation in PRICKLE3 as a modifier of expression of the disease. For a general description and discussion of genetic heterogeneity of Leber optic atrophy, see 535000.

Leber optic atrophy: 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.

MalaCards based summary: Leber Hereditary Optic Neuropathy, Modifier of, also known as leber hereditary optic neuropathy, is related to mitochondrial complex i deficiency, nuclear type 1 and leber optic atrophy and dystonia, and has symptoms including ataxia and static tremor. An important gene associated with Leber Hereditary Optic Neuropathy, Modifier of 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 Curcumin and Bezafibrate have been mentioned in the context of this disorder. Affiliated tissues include eye, bone marrow and brain, and related phenotypes are mitochondrial respiratory chain defects and slow decrease in visual acuity

MedlinePlus Genetics: 42 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.Blurring and clouding of vision are usually the first symptoms of LHON. These vision problems may begin in one eye or simultaneously in both eyes; if vision loss starts in one eye, the other eye is usually affected within several weeks or months. Over time, vision in both eyes worsens with a severe loss of sharpness (visual acuity) and color vision. This condition mainly affects central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. Vision loss results from the death of cells in the nerve that relays visual information from the eyes to the brain (the optic nerve). Although central vision gradually improves in a small percentage of cases, in most cases the vision loss is profound and permanent.Vision loss is typically the only symptom of LHON; however, some families with additional signs and symptoms have been reported. In these individuals, the condition is described as "LHON plus." In addition to vision loss, the features of LHON plus can include movement disorders, tremors, and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). Some affected individuals develop features similar to multiple sclerosis, which is a chronic disorder characterized by muscle weakness, poor coordination, numbness, and a variety of other health problems.

UniProtKB/Swiss-Prot 73 Leber hereditary optic neuropathy: A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.

Leber hereditary optic neuropathy, modifier: A form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Leber hereditary optic neuropathy is maternally inherited in most case and results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. Mutations in modifier genes can influence disease expression. LOAM exhibits increased penetrance and earlier age of onset compared to Leber optic atrophy caused by MTND4 primary mutations, due to the action of mutations in PRICKLE3 as a modifier gene.

GARD: 19 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 genetic changes 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.

Orphanet: 58 A rare hereditary optic neuropathy characterized by sudden onset, painless central vision loss, loss of retinal ganglion cells and optic atrophy.

Wikipedia: 75 Leber's hereditary optic neuropathy (LHON) is a mitochondrially inherited (transmitted from mother to... more...

GeneReviews: NBK1174

Related Diseases for Leber Hereditary Optic Neuropathy, Modifier of

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

(show top 50) (show all 442)
# Related Disease Score Top Affiliating Genes
1 mitochondrial complex i deficiency, nuclear type 1 33.5 OPA1 NDUFS4 NDUFS2 NDUFA1 MT-ND6 MT-ND4L
2 leber optic atrophy and dystonia 33.5 MT-ND6 MT-ND5 MT-ND4 MT-ND1
3 optic nerve disease 33.1 OPA1 NDUFS4 NDUFS2 NDUFA1 MYOC MT-ND6
4 leber plus disease 33.1 PRICKLE3 NDUFS4 NDUFS2 MYOC MT-TS1 MT-ND6
5 neuropathy 33.1 OPA1 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2
6 hereditary optic neuropathy 33.1 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ATP6
7 mitochondrial complex i deficiency, nuclear type 16 32.8 MT-ND6 MT-ND4 MT-ND1 MT-ATP6
8 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 32.7 NDUFS4 NDUFS2 NDUFA1 MT-TS1 MT-ND6 MT-ND5
9 mitochondrial complex iv deficiency, nuclear type 1 32.7 MT-TS1 MT-CO3 MT-CO1
10 mitochondrial disease 32.4 OPA1 NDUFS4 MT-TS1 MT-ND6 MT-ND5 MT-ND4
11 scotoma 31.9 OPA1 MT-ND6 MT-ND4 MT-ND1
12 leigh syndrome 31.7 OPA1 NDUFS4 NDUFS2 NDUFA1 MT-ND6 MT-ND5
13 kearns-sayre syndrome 31.6 OPA1 NDUFS4 MT-ND6 MT-ND5 MT-ND4L MT-ND4
14 lactic acidosis 31.6 NDUFS4 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CYB
15 myopathy 31.6 NDUFS4 NDUFS2 NDUFA1 MT-CYB MT-CO3 MT-CO1
16 chronic progressive external ophthalmoplegia 31.5 OPA1 MT-ND6 MT-ND4 MT-ND1 MT-CYB MT-CO3
17 mitochondrial myopathy 31.4 OPA1 NDUFS4 NDUFS2 NDUFA1 MT-TS1 MT-ND6
18 mitochondrial encephalomyopathy 31.4 NDUFS4 NDUFS2 NDUFA1 MT-TS1 MT-ND6 MT-ND5
19 3-methylglutaconic aciduria, type iii 31.4 OPA1 NDUFS2 MYOC MT-TS1 MT-ND6 MT-ND4
20 hypertrophic cardiomyopathy 31.3 OPA1 MT-ND1 MT-CYB MT-CO3 MT-CO1 MT-ATP6
21 peripheral nervous system disease 31.3 OPA1 MYOC MT-ND6 MT-ND4 MT-ND1 MT-ATP6
22 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 31.2 OPA1 MT-ND2
23 myoclonic epilepsy associated with ragged-red fibers 31.2 MT-TS1 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2
24 early myoclonic encephalopathy 31.1 NDUFS4 MT-TS1 MT-ND6 MT-ND5 MT-ND4L MT-ND4
25 retinitis pigmentosa 31.1 MYOC MT-ND6 MT-ND4 MT-ND2 MT-ND1 MT-CYB
26 deafness, nonsyndromic sensorineural, mitochondrial 31.1 MT-TS1 MT-ND4 MT-ND1 MT-CO1
27 nutritional optic neuropathy 31.0 MT-ND6 MT-ND4
28 toxic optic neuropathy 31.0 MT-ND6 MT-ND4
29 ancylostomiasis 30.8 MT-ND5 MT-ND4L MT-ND4 MT-ND1 MT-CO1
30 loiasis 11.9
31 leber hereditary optic neuropathy, autosomal recessive 11.9
32 leber hereditary optic neuropathy with demyelinating disease of cns 11.6
33 filariasis 11.4
34 optic atrophy 1 11.3
35 mitochondrial complex i deficiency, mitochondrial type 1 11.3
36 mitochondrial complex iii deficiency, nuclear type 1 11.3
37 mitochondrial complex ii deficiency, nuclear type 1 11.3
38 mitochondrial complex i deficiency, nuclear type 12 11.3
39 mitochondrial complex i deficiency, nuclear type 30 11.3
40 mitochondrial complex v deficiency, nuclear type 1 11.3
41 mitochondrial complex i deficiency, nuclear type 6 11.3
42 mitochondrial complex i deficiency, nuclear type 7 11.3
43 mitochondrial complex i deficiency, nuclear type 8 11.3
44 mitochondrial complex i deficiency, nuclear type 9 11.3
45 mitochondrial complex i deficiency, nuclear type 10 11.3
46 mitochondrial complex i deficiency, nuclear type 11 11.3
47 mitochondrial complex i deficiency, nuclear type 13 11.3
48 mitochondrial complex i deficiency, nuclear type 14 11.3
49 mitochondrial complex i deficiency, nuclear type 15 11.3
50 mitochondrial complex i deficiency, nuclear type 17 11.3

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



Diseases related to Leber Hereditary Optic Neuropathy, Modifier of

Symptoms & Phenotypes for Leber Hereditary Optic Neuropathy, Modifier of

Human phenotypes related to Leber Hereditary Optic Neuropathy, Modifier of:

58 30 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 mitochondrial respiratory chain defects 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0200125
2 slow decrease in visual acuity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007924
3 optic atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0000648
4 retinal telangiectasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0007763
5 blurred vision 58 30 Frequent (33%) Frequent (79-30%)
HP:0000622
6 central scotoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0000603
7 centrocecal scotoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0000576
8 retinal vascular tortuosity 58 30 Frequent (33%) Frequent (79-30%)
HP:0012841
9 optic neuropathy 30 Frequent (33%) HP:0001138
10 ataxia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001251
11 myopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003198
12 peripheral neuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009830
13 postural tremor 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002174
14 ventricular preexcitation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004309
15 arrhythmia 58 30 Occasional (29-5%)
HP:0011675
16 dystonia 30 HP:0001332
17 polyneuropathy 30 HP:0001271
18 visual loss 30 HP:0000572
19 leber optic atrophy 30 HP:0001112
20 central retinal vessel vascular tortuosity 30 HP:0007768

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
optic atrophy
reduced visual acuity, moderate to profound

Clinical features from OMIM®:

308905 535000 (Updated 08-Dec-2022)

UMLS symptoms related to Leber Hereditary Optic Neuropathy, Modifier of:


ataxia; static tremor

Drugs & Therapeutics for Leber Hereditary Optic Neuropathy, Modifier of

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

(show top 50) (show all 67)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Curcumin Approved, Investigational Phase 3 458-37-7, 84765-67-3 969516
2
Bezafibrate Approved, Investigational Phase 2, Phase 3 41859-67-0 39042
3
Cysteine Approved, Nutraceutical Phase 2, Phase 3 52-90-4 594 5862
4 Antirheumatic Agents Phase 3
5 Anti-Inflammatory Agents, Non-Steroidal Phase 3
6 Analgesics, Non-Narcotic Phase 3
7 Analgesics Phase 3
8 Anti-Infective Agents, Local Phase 3
9 Antimetabolites Phase 2, Phase 3
10 Hypolipidemic Agents Phase 2, Phase 3
11 Lipid Regulating Agents Phase 2, Phase 3
12 Pharmaceutical Solutions Phase 3
13 Anesthetics Phase 3
14
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
15
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
16
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
17
Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
18
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 4894 5755
19
Polymyxin B Approved, Vet_approved Phase 1, Phase 2 1405-20-5, 1404-26-8 4868
20
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
21
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5 1875
22
Levoleucovorin Approved, Experimental, Investigational Phase 1, Phase 2 68538-85-2, 58-05-9, 73951-54-9 149436 6006
23
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 4159 6741
24
Trimethoprim Approved, Vet_approved Phase 1, Phase 2 738-70-5 5578
25
Folic acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
26
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7 4897
27 Calcineurin Inhibitors Phase 2
28 Cyclosporins Phase 2
29 Antifungal Agents Phase 2
30 Immunosuppressive Agents Phase 2
31 Dermatologic Agents Phase 2
32 Ophthalmic Solutions Phase 2
33 Anti-Infective Agents Phase 1, Phase 2
34 Anti-Inflammatory Agents Phase 1, Phase 2
35 Folic Acid Antagonists Phase 1, Phase 2
36 Folate Phase 1, Phase 2
37 Anti-Bacterial Agents Phase 1, Phase 2
38 Antineoplastic Agents, Hormonal Phase 1, Phase 2
39 Vitamin B9 Phase 1, Phase 2
40 Antiprotozoal Agents Phase 1, Phase 2
41 Hormones Phase 1, Phase 2
42 Antiparasitic Agents Phase 1, Phase 2
43 Vitamin B Complex Phase 1, Phase 2
44 Hormone Antagonists Phase 1, Phase 2
45 Antimalarials Phase 1, Phase 2
46 Polymyxins Phase 1, Phase 2
47 glucocorticoids Phase 1, Phase 2
48
Methylprednisolone Acetate Phase 1, Phase 2 584547
49 Cytochrome P-450 Enzyme Inhibitors Phase 1, Phase 2
50
Acetic acid Approved Phase 1 64-19-7 176

Interventional clinical trials:

(show top 50) (show all 60)
# Name Status NCT ID Phase Drugs
1 External Natural History Controlled, Open-Label Intervention Study to Assess the Efficacy and Safety of Long-Term Treatment With Raxone® in Leber's Hereditary Optic Neuropathy (LHON) Completed NCT02774005 Phase 4 Idebenone
2 Long-term Follow-up of ND4 LHON Subjects Treated With GS010 Ocular Gene Therapy in the RESCUE or REVERSE Phase III Clinical Trials (RESTORE) Completed NCT03406104 Phase 3
3 A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON) Completed NCT00528151 Phase 3 curcumin
4 A Randomized, Double-Masked, Sham-Controlled Clinical Trial to Evaluate the Efficacy of a Single Intravitreal Injection of GS010 in Subjects Affected for 6 Months or Less by LHON Due to the G11778A Mutation in the Mitochondrial ND4 Gene Completed NCT02652767 Phase 3
5 Randomized, Double-Masked, Sham-Controlled Clinical Trial to Evaluate the Efficacy of a Single Intravitreal Injection of GS010 in Subjects Affected for More Than 6 Months and To 12 Months by LHON Due to the G11778A Mutation in the ND4 Gene Completed NCT02652780 Phase 3
6 Study of Efficacy of Befizal® 200 mg for the Treatment of Leber Hereditary Optic Neuropathy Recruiting NCT04561466 Phase 2, Phase 3 Béfizal
7 A Phase 1/2/3, Multi-center, Two-part Clinical Trial to Evaluate the Safety and Efficacy of Gene Therapy for Leber's Hereditary Optic Neuropathy (LHON) Associated With ND4 Mutation Recruiting NCT04912843 Phase 2, Phase 3 NR082 injection
8 An Open-Label, Dose Escalation and Double-Masked, Randomized, Controlled Study to Evaluate the Safety and Tolerability of Sepofarsen in Pediatric Subjects <8 Years of Age With Leber Congenital Amaurosis Type 10 (LCA10) Due to the c.2991 +1655A>G (p.Cys998X) Mutation. Recruiting NCT04855045 Phase 2, Phase 3 sepofarsen
9 Efficacy and Safety of Bilateral Intravitreal Injection of GS010: A Randomized, Double-Masked, Placebo-Controlled Trial in Subjects Affected With G11778A ND4 Leber Hereditary Optic Neuropathy for Up to One Year Active, not recruiting NCT03293524 Phase 3 Placebo
10 A Single Intravitreal Injection of rAAV2-ND4 for the Treatment of Leber's Hereditary Optic Neuropathy Active, not recruiting NCT03153293 Phase 2, Phase 3 rAAV2-ND4
11 Double-masked, Randomized, Controlled, Multiple-dose Study to Evaluate Efficacy, Safety, Tolerability and Syst. Exposure of QR-110 in Leber's Congenital Amaurosis (LCA) Due to c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene Active, not recruiting NCT03913143 Phase 2, Phase 3 sepofarsen
12 A Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis (LCA) Using Adeno-Associated Viral Vector to Deliver the Gene for Human RPE65 to the Retinal Pigment Epithelium (RPE) [AAV2-hRPE65v2-301] Active, not recruiting NCT00999609 Phase 3
13 Study With Idebenone in Patients With Chronic Vision Loss Due to Leber's Hereditary Optic Neuropathy (LHON) Withdrawn NCT01495715 Phase 3 Idebenone;Placebo
14 Trial of Cyclosporine in the Acute Phase of Leber Hereditary Optic Neuropathy Unknown status NCT02176733 Phase 2 cyclosporine
15 An Open Label Dose Escalation Clinical Trial to Evaluate the Safety and the Tolerability of GS010 (rAAV2/2-ND4) in Patients With Leber Hereditary Optic Neuropathy Due to Mutations in the Mitochondrial NADH Dehydrogenase 4 Gene Completed NCT02064569 Phase 1, Phase 2
16 A Prospective, Randomized, Double-Masked, Vehicle Controlled, Phase 2 Clinical Study to Evaluate the Safety, Tolerability and Efficacy of Elamipretide Topical Ophthalmic Solution in Subjects With Leber's Hereditary Optic Neuropathy (LHON) Completed NCT02693119 Phase 2 elamipretide (MTP-131) 1% topical ophthalmic solution;Vehicle topical ophthalmic solution
17 A Double-Blind, Randomised, Placebo-Controlled Study of the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Patients With Leber's Hereditary Optic Neuropathy Completed NCT00747487 Phase 2 Idebenone;Placebo
18 A Multiple-Site, Phase 1/2, Safety and Efficacy Trial of a Recombinant Adeno-associated Virus Vector Expressing RPE65 (rAAV2-CB-hRPE65) in Patients With Leber Congenital Amaurosis Type 2 Completed NCT00749957 Phase 1, Phase 2
19 An Open-label, Multi-centre, Phase I/II Dose Escalation Trial of an Adeno Associated Virus Vector for Gene Therapy of Adults And Children With Retinal Dystrophy Associated With Defects in RPE65 (LCA) Completed NCT02781480 Phase 1, Phase 2
20 Prospective Monocentric Open Label Non Randomized Uncontrolled Phase I/II Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65 Completed NCT01496040 Phase 1, Phase 2 rAAV2/4.hRPE65
21 An Open-label Dose Escalation Study of an Adeno-associated Virus Vector (AAV2/2-hRPE65p-hRPE65) for Gene Therapy of Severe Early-onset Retinal Degeneration Completed NCT00643747 Phase 1, Phase 2
22 An Open-label, Multiple Dose, Dose Escalation Study to Evaluate the Safety and Tolerability of QR-110 in Subjects With Leber's Congenital Amaurosis (LCA) Due to c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene Completed NCT03140969 Phase 1, Phase 2 QR-110
23 Phase 1/2 Study to Assess the Safety and Efficacy of Ocu400 for Retinitis Pigmentosa Associated With Nr2e3 and Rho Mutations and Leber Congenital Amaurosis With Mutation(S) in Cep290 Gene Recruiting NCT05203939 Phase 1, Phase 2 OCU400 Low Dose;OCU400 Mid Dose;OCU400 High Dose
24 An Open-Label, Extension Study to Evaluate the Safety, Tolerability, Efficacy and Pharmacokinetics of QR-110 in Subjects With Leber's Congenital Amaurosis (LCA) Due to the c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene Active, not recruiting NCT03913130 Phase 1, Phase 2 QR-110
25 Open-Label, Single Ascending Dose Study to Evaluate the Safety, Tolerability, and Efficacy of EDIT-101 in Adult and Pediatric Participants With Leber Congenital Amaurosis Type 10 (LCA10), With Centrosomal Protein 290 (CEP290)-Related Retinal Degeneration Caused by a Compound Heterozygous or Homozygous Mutation Involving c.2991+1655A>G in Intron 26 (IVS26) of the CEP290 Gene ("LCA10-IVS26") Active, not recruiting NCT03872479 Phase 1, Phase 2 EDIT-101
26 A Phase 1/2 Dose Escalation Study of Subretinally Injected SAR439483 Administered in Patients With Leber Congenital Amaurosis Caused by Biallelic Mutations in GUCY2D Active, not recruiting NCT03920007 Phase 1, Phase 2 SAR439483;SAR439483 Diluent Solution;Prednisone;Triamcinalone Acetonide;1% Prednisolone;Trimethoprim/polymyxin B
27 A Follow-On Study to Evaluate the Safety of Re-Administration of Adeno-Associated Viral Vector Containing the Gene for Human RPE65 [AAV2-hRPE65v2] to the Contralateral Eye in Subjects With Leber Congenital Amaurosis (LCA) Previously Enrolled in a Phase 1 Study Active, not recruiting NCT01208389 Phase 1, Phase 2
28 Near-infrared Light-emitting Diode (NIR-LED) Therapy for Leber's Hereditary Optic Neuropathy (LHON) Terminated NCT01389817 Phase 1, Phase 2
29 A Phase I, Randomized, Double Blind, Placebo-controlled, Dose-escalating Clinical Trial With KH176 Completed NCT02544217 Phase 1 KH176;placebo
30 A Phase 1 Safety Study in Subjects With Leber Congenital Amaurosis (LCA) Using Adeno-Associated Viral Vector to Deliver the Gene for Human RPE65 Into the Retinal Pigment Epithelium (RPE) [AAV2-hRPE65v2-101] Completed NCT00516477 Phase 1
31 Phase 1b Study to Evaluate QLT091001 in Subjects With Leber Congenital Amaurosis (LCA) or Retinitis Pigmentosa (RP) Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT) Completed NCT01014052 Phase 1 QLT091001
32 An Open-Label Study to Evaluate the Effects of Repeated Treatments of Oral QLT091001 on Safety and Vision Outcome in Subjects With Leber Congenital Amaurosis (LCA) or Retinitis Pigmentosa (RP) Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin: Retinol Acyltransferase (LRAT) (Extension of Study RET IRD 01) Completed NCT01521793 Phase 1 QLT091001
33 Phase I Trial of Ocular Subretinal Injection of a Recombinant Adeno-Associated Virus (rAAV2-hRPE65) Gene Vector to Patients With Retinal Disease Due to RPE65 Mutations Completed NCT00821340 Phase 1
34 An Open-label Dose Escalation Study of an Adeno-associated Virus Vector (scAAV2-P1ND4v2) for Gene Therapy of Leber's Hereditary Optic Neuropathy (LHON) Caused by the G11778A Mutation in Mitochondrial DNA Active, not recruiting NCT02161380 Phase 1 injection of scAAV2-P1ND4v2 1.18x10e9 vg (Low),;injection of scAAV2-P1ND4v2 5.81 X10e9 vg (Med);injection of scAAV2-P1ND4v2 2.4 X10e10vg (High);injection of scAAV2-P1ND4v2 1.0 X10e11vg (Higher)
35 Phase I Trial of Ocular Subretinal Injection of a Recombinant Adeno-Associated Virus (rAAV2-CBSB-hRPE65) Gene Vector to Patients With Retinal Disease Due to RPE65 Mutations (Clinical Trials of Gene Therapy for Leber Congenital Amaurosis) Active, not recruiting NCT00481546 Phase 1
36 Efficacy Study of Gene Therapy for The Treatment of Acute LHON Onset Within Three Months Unknown status NCT03428178 rAAV2-ND4
37 Treatment of Retinitis Pigmentosa and Leber Congenital Amaurosis by Primary Retinal Pigment Epithelial Cells Transplantation Unknown status NCT03566147 Early Phase 1
38 Natural History of Patients With Inherited Retinal Diseases Due to Mutations in RPE65 Gene Unknown status NCT04525261
39 Observational Registry Study of Leber Hereditary Optic Neuropathy (LHON) Affected Patients Completed NCT03295071
40 Leber Hereditary Optic Neuropathy (LHON) Historical Case Record Survey Completed NCT01892943
41 Safety and Efficacy Study of a Single Intravitreal Injection of rAAV2-ND4 Treatment of Leber Hereditary Optic Neuropathy Completed NCT01267422 rAAV2-ND4
42 Historical Case Record Survey of Visual Acuity Data From Patients With Leber's Hereditary Optic Neuropathy (LHON) Completed NCT02796274
43 A Non-interventional Study of Clinical Experience in Patients Prescribed Raxone® for the Treatment of Leber's Hereditary Optic Neuropathy (LHON) Completed NCT02771379 Idebenone
44 New Methods of Dynamic Pupillometrics in Subjects With Visual and Color Vision Pathologies for the Detection, Functional Diagnosis and Follow-up of These Pathologies Completed NCT04909398
45 A Single Visit, Observational, Follow-up Study of Patients With Leber's Hereditary Optic Neuropathy Following Participation in SNT-II-003 Trial Completed NCT01421381
46 Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families: Establishment of Genotype-phenotype Correlations and Updating the Clinical Definition of This Retinal Dystrophy Completed NCT02970266
47 Retrospective, Uncontrolled, Multicenter, Case History Study to Determine the Natural History of Visual Function in Subjects With Inherited Retinal Disease (IRD) Caused by Inherited Mutation of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT) Completed NCT02575430
48 Natural History Study of CEP290-Related Retinal Degeneration Completed NCT03396042
49 Bone Marrow Derived Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541
50 New Non-invasive Modalities for Assessing Retinal Structure and Function:Preliminary Investigation Recruiting NCT03475173

Search NIH Clinical Center for Leber Hereditary Optic Neuropathy, Modifier of

Cochrane evidence based reviews: optic atrophy, hereditary, leber

Genetic Tests for Leber Hereditary Optic Neuropathy, Modifier of

Genetic tests related to Leber Hereditary Optic Neuropathy, Modifier of:

# Genetic test Affiliating Genes
1 Leber Optic Atrophy 28 IVNS1ABP MT-ATP6 MT-CO3 MT-CYB MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6
2 Leber Optic Atrophy, Susceptibility to 28 PRICKLE3

Anatomical Context for Leber Hereditary Optic Neuropathy, Modifier of

Organs/tissues related to Leber Hereditary Optic Neuropathy, Modifier of:

MalaCards : Eye, Bone Marrow, Brain, Retina, Bone, Spinal Cord, Skin

Publications for Leber Hereditary Optic Neuropathy, Modifier of

Articles related to Leber Hereditary Optic Neuropathy, Modifier of:

(show top 50) (show all 5027)
# Title Authors PMID Year
1
Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation? 62 24 57 5
11169561 2001
2
PRICKLE3 linked to ATPase biogenesis manifested Leber's hereditary optic neuropathy. 62 57 5
32516135 2020
3
Leber's hereditary optic neuropathy with dystonia in a Japanese family. 53 62 24 5
16380132 2006
4
Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy. 62 24 5
22879922 2012
5
Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation. 62 24 5
14735585 2004
6
Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. 62 24 5
8755941 1996
7
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. 62 24 5
8016139 1994
8
Heteroplasmy in Leber's hereditary optic neuropathy. 62 24 5
8240102 1993
9
Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation. 62 24 5
8470982 1993
10
An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. 62 24 5
1417830 1992
11
Molecular genetic analysis of a sporadic case of Leber hereditary optic neuropathy. 62 24 5
1734726 1992
12
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. 62 24 5
3201231 1988
13
The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy. 53 62 5
15505787 2004
14
Cytochrome c oxidase mutations in Leber hereditary optic neuropathy. 53 62 5
8240356 1993
15
Homoplasmic and exclusive ND4 gene mutation in Japanese pedigrees with Leber's disease. 53 62 5
8449667 1993
16
Intrafamilial variation in Leber hereditary optic neuropathy revealed by direct mutation analysis. 53 62 5
8448903 1993
17
Cytochrome b mutations in Leber hereditary optic neuropathy. 53 62 5
1764087 1991
18
Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. 53 62 5
1928099 1991
19
Leber's hereditary optic neuropathy caused by the homoplasmic ND1 m.3635G>A mutation in nine Han Chinese families. 62 5
25194554 2014
20
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions. 62 5
24884847 2014
21
Leber's hereditary optic neuropathy is associated with the T12338C mutation in mitochondrial ND5 gene in six Han Chinese families. 62 5
21131053 2011
22
Novel A14841G mutation is associated with high penetrance of LHON/C4171A family. 62 5
19555656 2009
23
Confirmation of the mitochondrial ND1 gene mutation G3635A as a primary LHON mutation. 62 5
19497304 2009
24
Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation. 62 5
19026397 2008
25
Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction. 62 5
18771762 2008
26
Primary spinal cord neurodegeneration in Leber hereditary optic neuropathy. 62 5
17620555 2007
27
Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency. 62 5
16738010 2006
28
The 13042G --> A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype. 62 5
16816025 2006
29
Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. 62 5
16532388 2006
30
The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation. 62 5
16431939 2006
31
The unique characteristics of Thai Leber hereditary optic neuropathy: analysis of 30 G11778A pedigrees. 62 5
16477364 2006
32
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder. 62 57
16380918 2005
33
The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation. 62 5
16240359 2005
34
A "Fille du Roy" introduced the T14484C Leber hereditary optic neuropathy mutation in French Canadians. 62 5
15954041 2005
35
Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy. 62 5
12736867 2003
36
X-inactivation pattern in multiple tissues from two Leber's hereditary optic neuropathy (LHON) patients. 62 57
12707956 2003
37
Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA. 62 5
12707444 2003
38
A novel mtDNA C11777A mutation in Leigh syndrome. 62 5
16120329 2003
39
Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations? 62 5
12509858 2003
40
A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy. 62 5
12560876 2003
41
Leber's hereditary optic neuropathy with 14484 mutation in Central Java, Indonesia. 62 5
12827453 2003
42
From genotype to phenotype in Leber hereditary optic neuropathy: still more questions than answers. 62 57
12464728 2002
43
Rescue of a mitochondrial deficiency causing Leber Hereditary Optic Neuropathy. 62 5
12402249 2002
44
Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy. 62 5
12112086 2002
45
Mitochondrial DNA C4171A/ND1 is a novel primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis. 62 5
12112111 2002
46
Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells. 62 5
11854175 2002
47
The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J. 62 5
11935318 2002
48
Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families. 62 5
11479733 2001
49
The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. 62 5
11133798 2001
50
A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy. 62 57
11124301 2000

Variations for Leber Hereditary Optic Neuropathy, Modifier of

ClinVar genetic disease variations for Leber Hereditary Optic Neuropathy, Modifier of:

5 (show top 50) (show all 76)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-ND5 m.13045A>C SNV Pathogenic
9700 rs267606895 GRCh37: MT:13045-13045
GRCh38: MT:13045-13045
2 MT-ND1 m.4136A>G SNV Pathogenic
9727 rs199476121 GRCh37: MT:4136-4136
GRCh38: MT:4136-4136
3 MT-ND5 m.12338T>C SNV Pathogenic
29999 rs201863060 GRCh37: MT:12338-12338
GRCh38: MT:12338-12338
4 MT-CYB m.15150G>A SNV Pathogenic
9681 rs207460000 GRCh37: MT:15150-15150
GRCh38: MT:15150-15150
5 MT-CO3 NC_012920.1:m.9237G>A SNV Pathogenic
370052 rs1057516064 GRCh37: MT:9237-9237
GRCh38: MT:9237-9237
6 MT-ATP6 NC_012920.1(MT-ATP6):m.8783G>A SNV Pathogenic
692983 rs1603221804 GRCh37: MT:8783-8783
GRCh38: MT:8783-8783
7 MT-ND5 NC_012920.1(MT-ND5):m.12425del DEL Pathogenic
693440 rs1603223730 GRCh37: MT:12418-12418
GRCh38: MT:12418-12418
8 MT-ND5 NC_012920.1(MT-ND5):m.13063G>A SNV Pathogenic
693513 rs1603224017 GRCh37: MT:13063-13063
GRCh38: MT:13063-13063
9 MT-ND1 m.4160T>C SNV Pathogenic
9723 rs199476119 GRCh37: MT:4160-4160
GRCh38: MT:4160-4160
10 MT-ATP6 m.9101T>C SNV Pathogenic
9643 rs199476134 GRCh37: MT:9101-9101
GRCh38: MT:9101-9101
11 MT-TS1, MT-CO1 NC_012920.1:m.7444G>A SNV Pathogenic
9663 rs199474822 GRCh37: MT:7444-7444
GRCh38: MT:7444-7444
12 MT-ND5 m.13730G>A SNV Pathogenic
9697 rs387906425 GRCh37: MT:13730-13730
GRCh38: MT:13730-13730
13 MT-ND5 m.12848C>T SNV Pathogenic
9704 rs267606899 GRCh37: MT:12848-12848
GRCh38: MT:12848-12848
14 MT-ND2 m.5244G>A SNV Pathogenic
9717 rs199476115 GRCh37: MT:5244-5244
GRCh38: MT:5244-5244
15 MT-ND2 m.4640C>A SNV Pathogenic
9718 rs387906426 GRCh37: MT:4640-4640
GRCh38: MT:4640-4640
16 MT-ND1 m.3946G>A SNV Pathogenic
9734 rs199476123 GRCh37: MT:3946-3946
GRCh38: MT:3946-3946
17 MT-CO3 m.9804G>A SNV Pathogenic
9652 rs200613617 GRCh37: MT:9804-9804
GRCh38: MT:9804-9804
18 MT-ND6 NC_012920.1:m.14484T>C SNV Pathogenic
9688 rs199476104 GRCh37: MT:14484-14484
GRCh38: MT:14484-14484
19 MT-ND6 m.14459G>A SNV Pathogenic
9689 rs199476105 GRCh37: MT:14459-14459
GRCh38: MT:14459-14459
20 MT-ND6 m.14495A>G SNV Pathogenic
9691 rs199476106 GRCh37: MT:14495-14495
GRCh38: MT:14495-14495
21 MT-ND6 m.14482C>A SNV Pathogenic
9693 rs199476108 GRCh37: MT:14482-14482
GRCh38: MT:14482-14482
22 MT-ND4L m.10663T>C SNV Pathogenic
9707 rs1556423844 GRCh37: MT:10663-10663
GRCh38: MT:10663-10663
23 MT-ATP6 NC_012920.1:m.9185T>C SNV Pathogenic
9647 rs199476138 GRCh37: MT:9185-9185
GRCh38: MT:9185-9185
24 MT-ATP6 NC_012920.1:m.8993T>C SNV Pathogenic
9642 rs199476133 GRCh37: MT:8993-8993
GRCh38: MT:8993-8993
25 MT-CO3, MT-ATP6 NC_012920.1:m.9205_9206del DEL Pathogenic
9646 rs199476137 GRCh37: MT:9204-9205
GRCh38: MT:9204-9205
26 MT-CYB m.15579A>G SNV Pathogenic
9683 rs207460002 GRCh37: MT:15579-15579
GRCh38: MT:15579-15579
27 MT-ND6 m.14487T>C SNV Pathogenic
9694 rs199476109 GRCh37: MT:14487-14487
GRCh38: MT:14487-14487
28 MT-ND5 m.12706T>C SNV Pathogenic
9698 rs267606893 GRCh37: MT:12706-12706
GRCh38: MT:12706-12706
29 MT-ATP6 NC_012920.1(MT-ATP6):m.9035T>C SNV Pathogenic
690280 rs1603222000 GRCh37: MT:9035-9035
GRCh38: MT:9035-9035
30 MT-ND5 NC_012920.1:m.13094T>C SNV Pathogenic
693516 rs1603224029 GRCh37: MT:13094-13094
GRCh38: MT:13094-13094
31 MT-ND4 NC_012920.1:m.11778G>A SNV Pathogenic
Pathogenic/Likely Pathogenic
9708 rs199476112 GRCh37: MT:11778-11778
GRCh38: MT:11778-11778
32 MT-ND1 m.3697G>A SNV Pathogenic
9733 rs199476122 GRCh37: MT:3697-3697
GRCh38: MT:3697-3697
33 MT-ND1 NC_012920.1:m.3460G>A SNV Pathogenic
9722 rs199476118 GRCh37: MT:3460-3460
GRCh38: MT:3460-3460
34 MT-ND1 m.3394T>C SNV Pathogenic
9725 rs41460449 GRCh37: MT:3394-3394
GRCh38: MT:3394-3394
35 MT-ND1 m.3733G>A SNV Pathogenic
9736 rs199476125 GRCh37: MT:3733-3733
GRCh38: MT:3733-3733
36 MT-ND6 m.14568C>T SNV Pathogenic
65515 rs397515506 GRCh37: MT:14568-14568
GRCh38: MT:14568-14568
37 MT-ND4 m.11777C>A SNV Pathogenic
9711 rs28384199 GRCh37: MT:11777-11777
GRCh38: MT:11777-11777
38 MT-ND5 m.13042G>A SNV Pathogenic
9703 rs267606898 GRCh37: MT:13042-13042
GRCh38: MT:13042-13042
39 MT-ATP6 NC_012920.1:m.8851T>C SNV Pathogenic
9645 rs199476136 GRCh37: MT:8851-8851
GRCh38: MT:8851-8851
40 MT-ATP6 NC_012920.1:m.9176T>C SNV Pathogenic
9644 rs199476135 GRCh37: MT:9176-9176
GRCh38: MT:9176-9176
41 MT-CYB m.15812G>A SNV Pathogenic
9675 rs200336777 GRCh37: MT:15812-15812
GRCh38: MT:15812-15812
42 MT-CO3 m.9438G>A SNV Pathogenic
9651 rs267606611 GRCh37: MT:9438-9438
GRCh38: MT:9438-9438
43 MT-ATP6 NC_012920.1:m.8969G>A SNV Pathogenic
191364 rs794726857 GRCh37: MT:8969-8969
GRCh38: MT:8969-8969
44 MT-ATP6 NC_012920.1:m.8993T>G SNV Pathogenic/Likely Pathogenic
9641 rs199476133 GRCh37: MT:8993-8993
GRCh38: MT:8993-8993
45 MT-ND5 NC_012920.1:m.13051G>A SNV Pathogenic/Likely Pathogenic
430689 rs1131692063 GRCh37: MT:13051-13051
GRCh38: MT:13051-13051
46 MT-ND1 m.3635G>A SNV Pathogenic/Likely Pathogenic
65518 rs397515507 GRCh37: MT:3635-3635
GRCh38: MT:3635-3635
47 MT-ND1 m.4171C>A SNV Pathogenic/Likely Pathogenic
9732 rs28616230 GRCh37: MT:4171-4171
GRCh38: MT:4171-4171
48 MT-ND6 NC_012920.1(MT-ND6):m.14502T>C SNV Risk Factor
690281 rs201327354 GRCh37: MT:14502-14502
GRCh38: MT:14502-14502
49 NDUFS2 NM_001377299.1(NDUFS2):c.268G>A (p.Ala90Thr) SNV Likely Pathogenic
522715 rs1553249704 GRCh37: 1:161176262-161176262
GRCh38: 1:161206472-161206472
50 PRICKLE3 NM_006150.5(PRICKLE3):c.157C>T (p.Arg53Trp) SNV Risk Factor
992950 rs2065470015 GRCh37: X:49040342-49040342
GRCh38: X:49183889-49183889

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

73 (show all 19)
# 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-ND4 p.Arg340His VAR_004760 rs199476112
10 MT-ND4L p.Val65Ala VAR_008397 rs193302933
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
19 PRICKLE3 p.Arg53Trp VAR_084628

Expression for Leber Hereditary Optic Neuropathy, Modifier of

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

Pathways for Leber Hereditary Optic Neuropathy, Modifier of

GO Terms for Leber Hereditary Optic Neuropathy, Modifier of

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016021 10.87 DNAJC30 EPHX1 MT-ATP6 MT-CO1 MT-CO3 MT-CYB
2 membrane GO:0016020 10.87 DNAJC30 EPHX1 MT-ATP6 MT-CO1 MT-CO3 MT-CYB
3 mitochondrion GO:0005739 10.35 DNAJC30 MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1
4 mitochondrial inner membrane GO:0005743 10.35 OPA1 NDUFS4 NDUFS2 NDUFA1 MYOC MT-ND6
5 mitochondrial membrane GO:0031966 10.02 OPA1 NDUFA1 MT-ND6 MT-ND4 MT-ND1 MT-CO3
6 mitochondrial respiratory chain complex III GO:0005750 9.73 MT-CYB MT-CO1
7 respiratory chain complex IV GO:0045277 9.71 MT-CO3 MT-CO1
8 respirasome GO:0070469 9.7 MT-CO1 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L
9 mitochondrial respiratory chain complex I GO:0005747 9.58 MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6

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

# Name GO ID Score Top Affiliating Genes
1 aerobic respiration GO:0009060 10.2 MT-CO1 MT-CO3 MT-ND1 MT-ND2 MT-ND4 MT-ND4L
2 mitochondrial respiratory chain complex I assembly GO:0032981 10.16 MT-ND1 MT-ND2 MT-ND4 MT-ND5 MT-ND6 NDUFA1
3 proton transmembrane transport GO:1902600 10.02 MT-CYB MT-CO3 MT-CO1 MT-ATP6
4 cellular respiration GO:0045333 10.01 NDUFS4 MT-CYB MT-CO3 MT-CO1
5 proton motive force-driven mitochondrial ATP synthesis GO:0042776 9.96 MT-ATP6 MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5
6 electron transport coupled proton transport GO:0015990 9.8 MT-ND5 MT-ND4 MT-CO1
7 respiratory electron transport chain GO:0022904 9.76 MT-CYB MT-CO3 MT-CO1
8 electron transport chain GO:0022900 9.73 NDUFS4 NDUFS2 MT-ND1 MT-CO1
9 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.58 MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6
10 ATP synthesis coupled electron transport GO:0042773 9.54 MT-ND5 MT-ND4L MT-ND4

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

# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 9.65 NDUFS2 MT-CYB MT-CO3
2 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.58 NDUFS4 NDUFS2 NDUFA1 MT-ND6 MT-ND5 MT-ND4L
3 NADH dehydrogenase activity GO:0003954 9.56 NDUFS2 MT-ND5 MT-ND4 MT-ND1
4 oxidoreductase activity, acting on NAD(P)H GO:0016651 9.16 NDUFS2 MT-ND4L

Sources for Leber Hereditary Optic Neuropathy, Modifier of

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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