Leber Optic Atrophy(Leber's hereditary optic neuropathy (LHON)) Explore Disorder's Alias
An MT inheritance mode(s) within the Metabolic disorders category
Candidate Gene Information
An MT inheritance mode(s) within the Metabolic disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | MT-CO3/4514 | mitochondrially encoded cytochrome c oxidase III | - | ChrMT, NC_012920.1 (9207..9990) |
784 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | MT-ND6/4541 | mitochondrially encoded NADH dehydrogenase 6 | - | ChrMT, NC_012920.1 (14149..14673, complement) |
525 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | MT-ND5/4540 | mitochondrially encoded NADH dehydrogenase 5 | - | ChrMT, NC_012920.1 (12337..14148) |
1812 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | MT-ND4L/4539 | mitochondrially encoded NADH 4L dehydrogenase | - | ChrMT, NC_012920.1 (10470..10766) |
297 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | MT-ND4/4538 | mitochondrially encoded NADH dehydrogenase 4 | - | ChrMT, NC_012920.1 (10760..12137) |
1378 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | MT-ND1/4535 | mitochondrially encoded NADH dehydrogenase 1 | - | ChrMT, NC_012920.1 (3307..4262) |
956 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | NDUFS2/4720 | NADH:ubiquinone oxidoreductase core subunit S2 | 1q23.3 | Chr1, NC_000001.11 (161197417..161214395) |
16979 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |