Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Leber hereditary optic neuropathy
go back to main search page
Accession:DOID:705 term browser browse the term
Definition:A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))
Synonyms:exact_synonym: Hereditary Optic Neuroretinopathy;   LEBER HEREDITARY OPTIC NEUROPATHY, MODIFIER OF;   LEBER OPTIC ATROPHY, SUSCEPTIBILITY TO;   LHON;   LHON, MODIFIER OF;   LOAS;   Leber Disease;   Leber Optic Atrophy;   Leber Optic Atrophy and Dystonia;   Leber Optic Neuropathy;   Leber's Disease;   Leber's Diseases;   Leber's Hereditary Optic Atrophy;   Leber's Hereditary Optic Neuropathy;   Leber's Optic Atrophy;   Leber's Optic Neuropathy;   Lebers Disease;   Lebers Optic Neuropathy;   Optic Atrophy, Hereditary, Leber;   hereditary optic neuroretinopathies;   optic atrophy, Leber type
 primary_id: MESH:D029242
 alt_id: OMIM:308905;   OMIM:535000
 xref: GARD:6870;   ICD10CM:H47.22;   NCI:C84808
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Leber hereditary optic neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:18061280 RGD:5685659 NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
JBrowse link
G Ephx1 epoxide hydrolase 1 onset ISO DNA:missense mutation:cds:p.Y113H (human) RGD PMID:15838728 RGD:5688732 NCBI chr13:99,271,390...99,300,580
Ensembl chr13:99,271,366...99,300,579
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Lca5 lebercilin LCA5 ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:28492532, PMID:30311386 NCBI chr 8:90,926,309...90,984,271
Ensembl chr 8:90,926,311...90,984,224
JBrowse link
G Lrat lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16250670, PMID:17011878 NCBI chr 2:181,896,304...181,905,366
Ensembl chr 2:181,896,305...181,905,300
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 susceptibility ISO DNA:missense mutations, haplotype:cds:m.8584G>A (p.A20T), m.8684C>T (p.T53I) (human)
ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:535000
DNA:transition:CDS:c.8668T>C, p.W48R (human)
ClinVar
CTD
PMID:7726182, PMID:19026397, PMID:20454697 RGD:5490293, RGD:5508187 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:1322638, PMID:1634041, PMID:1732158, PMID:8060346, PMID:8240356, PMID:8680405, PMID:9742104, PMID:10577941, PMID:16152638, PMID:17659260, PMID:20301595 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber's optic atrophy
CTD
ClinVar
PMID:7573056, PMID:7804416, PMID:8037217, PMID:8240356, PMID:25741868, PMID:30311386 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by OMIM:535000
ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1732158, PMID:1764087, PMID:7901141, PMID:8240104, PMID:8321540, PMID:8755941, PMID:25741868 NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:snp:cds:m.3635G>A (human)
ClinVar Annotator: match by term: Leber's optic atrophy
ClinVar Annotator: match by term: Optic Atrophy, Hereditary, Leber
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.L289M (m.4171C>A) (human)
DNA:missense mutation:cds:m.3866T>C (p.I187T) (human)
DNA:snps:cds:m.4136A>G, m.4160T>C (human)
DNA:snp:cds:m.3394T>C (human)
DNA:transition:CDS:c.3460G>A, p.A52T (human)
ClinVar
CTD
PMID:1417830, PMID:1442494, PMID:1550131, PMID:1674640, PMID:1732158, PMID:1734726, PMID:1900003, PMID:1928099, PMID:1959619, PMID:8496715, PMID:11479733, PMID:11854175, PMID:12112111, PMID:12205655, PMID:15342361, PMID:15466014, PMID:15505787, PMID:15972314, PMID:16738010, PMID:16969869, PMID:17562939, PMID:17620555, PMID:18216301, PMID:19497304, PMID:19555656, PMID:22879922, PMID:24569607, PMID:24830958, PMID:24884847, PMID:25194554, PMID:27449621, PMID:29991444, PMID:11479733, PMID:12112111, PMID:22577081, PMID:2018041, PMID:19324017, PMID:20454697 RGD:5508685, RGD:8657118, RGD:8657116, RGD:5508712, RGD:5508689, RGD:5508187 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO DNA:transversion:CDS:c.4852T>A, p.L128Q (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:535000
CTD
ClinVar
PMID:1732158, PMID:1900003, PMID:11479733, PMID:20454697 RGD:5508187 NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO DNA: mutation
ClinVar Annotator: match by term: Leber optic atrophy and dystonia
ClinVar Annotator: match by term: Leber's optic atrophy
ClinVar PMID:12227465, PMID:17152068, PMID:17413873, PMID:19458970, PMID:19458970 RGD:5508703 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO DNA:mutation:exon:p.R340H(human)
ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Optic Atrophy, Hereditary, Leber
DNA:transition:CDS:c.11778G>A (p.R340H) (human)
DNA:mutation:exon: 11778G>A
DNA:mutation: :m.11696G>A(human)
ClinVar
CTD
PMID:1346348, PMID:1352537, PMID:1469456, PMID:1734726, PMID:1763894, PMID:1770533, PMID:1770665, PMID:1866007, PMID:1900003, PMID:1937476, PMID:1959619, PMID:1959931, PMID:2039048, PMID:2222273, PMID:2286378, PMID:2346190, PMID:2346203, PMID:2390098, PMID:2566021, PMID:2566116, PMID:2575667, PMID:2817063, PMID:3201231, PMID:8101084, PMID:8240101, PMID:8240102, PMID:8448903, PMID:8449667, PMID:8457609, PMID:8474822, PMID:8489402, PMID:8489411, PMID:8644732, PMID:9150158, PMID:11169561, PMID:11854175, PMID:12402249, PMID:12560876, PMID:12707444, PMID:15342361, PMID:15576045, PMID:16120329, PMID:16431939, PMID:16477364, PMID:16532388, PMID:18771762, PMID:19026397, PMID:24569607, PMID:25741868, PMID:3201231, PMID:20454697, PMID:18771762, PMID:19022198, PMID:16364244, PMID:12436196 RGD:1581057, RGD:5508187, RGD:5507829, RGD:5491183, RGD:1581058, RGD:1581059 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
JBrowse link
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L ISO DNA:missense mutation:cds:m.10680G>A (p.A71T) (human)
ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:m.10663T>C (p.V65A) (human)
ClinVar
CTD
PMID:8680405, PMID:11935318, PMID:19394449, PMID:11935318 RGD:5686339, RGD:5686341 NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:535000
DNA:mutation: :m.13708G>A (human)
DNA:mutation:exon:13042G>A (A236T) (human)
DNA:mutation:exon:p.Y159H(human)
DNA:mutation:: m.12338 T>C
ClinVar
CTD
PMID:1417830, PMID:1732158, PMID:1764087, PMID:1900003, PMID:8213825, PMID:12509858, PMID:12736867, PMID:15767514, PMID:16240359, PMID:16816025, PMID:17400793, PMID:18332249, PMID:21131053, PMID:27164671, PMID:16240359, PMID:1732158, PMID:16816025, PMID:19022198, PMID:21131053 RGD:1581060, RGD:5507826, RGD:5491202, RGD:5491183, RGD:5491172 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO DNA:SNP, haplotypes: :m.14484T>C (human)
ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Optic Atrophy, Hereditary, Leber
DNA:mutation: :m.13997G>A (p.P25L) (mouse)
DNA:missense mutations, haplotypes:cds:multiple
DNA:missense mutation:cds:m.14502T>C (p.I58V) (human)
ClinVar
CTD
PMID:1463007, PMID:1634041, PMID:5511487, PMID:7654063, PMID:8016139, PMID:8470982, PMID:8622678, PMID:8644732, PMID:8854108, PMID:9012411, PMID:9177303, PMID:9849804, PMID:10072046, PMID:10631164, PMID:10894222, PMID:11133798, PMID:12112086, PMID:12205655, PMID:12736867, PMID:12827453, PMID:14735585, PMID:15342361, PMID:15922297, PMID:15954041, PMID:16380132, PMID:18674747, PMID:24569607, PMID:29987491, PMID:23665487, PMID:23129651, PMID:24398099, PMID:19732751 RGD:8657119, RGD:8657127, RGD:8657125, RGD:8657123 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:25741868 NCBI chr13:89,606,848...89,623,506
Ensembl chr13:89,606,840...89,619,398
JBrowse link
G Parl presenilin associated, rhomboid-like no_association ISO DNA:snps:introns:c.126-157G>A (rs3749446), c.321+112A>G (rs1402000) (human) RGD PMID:20407791, PMID:20711738 RGD:12902617, RGD:12902618 NCBI chr11:84,517,368...84,544,463
Ensembl chr11:84,517,368...84,544,462
JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO RGD PMID:15322982 RGD:1599415 NCBI chr 6:102,392,828...102,405,750
Ensembl chr 6:102,392,828...102,405,750
JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16828753, PMID:17011878 NCBI chr 2:266,141,581...266,169,197
Ensembl chr 2:266,141,581...266,169,197
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO RGD PMID:11283794 RGD:1599580 NCBI chr15:28,521,287...28,575,046
Ensembl chr15:28,522,737...28,574,737
JBrowse link
G Sod2 superoxide dismutase 2 treatment ISO RGD PMID:15293270, PMID:12601034 RGD:8158101, RGD:8158104 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Tp53 tumor protein p53 onset ISO DNA:polymorphism:cds:p.R72P(human) RGD PMID:15838728 RGD:5688732 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Vcan versican ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:30311386 NCBI chr 2:18,490,102...18,587,340
Ensembl chr 2:18,490,102...18,565,842
JBrowse link
Leber hereditary optic neuropathy and dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Leber hereditary optic neuropathy with dystonia ClinVar PMID:17152068, PMID:17413873, PMID:19458970 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
JBrowse link
Leber plus disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 ISO ClinVar Annotator: match by term: Leber plus disease ClinVar PMID:25741868 NCBI chr 3:133,232,412...133,261,932
Ensembl chr 3:133,232,432...133,261,973
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        mitochondrial metabolism disease 339
          Leber hereditary optic neuropathy 26
            Leber plus disease + 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        peripheral nervous system disease 2475
          neuropathy 2296
            cranial nerve disease 474
              optic nerve disease 241
                optic atrophy 132
                  Hereditary Optic Atrophies 63
                    Leber hereditary optic neuropathy 26
                      Leber plus disease + 2
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.