{"orpha":104,"name":"Leber hereditary optic neuropathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["LHON","Leber optic atrophy"],"definition":"A rare hereditary optic neuropathy characterized by sudden onset, painless central vision loss, loss of retinal ganglion cells and optic atrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-104/","orphanet_url":"https://www.orpha.net/en/disease/detail/104","names":{"fr":{"name":"Neuropathie optique héréditaire de Leber","synonyms":["Atrophie optique de Leber","LHON"],"definition":"Neuropathie optique héréditaire rare caractérisée par l'apparition soudaine d'une perte indolore de la vision centrale, d'une perte des cellules ganglionnaires rétiniennes et d'une atrophie optique."},"de":{"name":"Leber-Optikusneuropathie, hereditäre","synonyms":["LHON","Leber-Optikusatrophie","Optikus-Neuropathie Typ Leber"],"definition":"Eine seltene hereditäre Optikusneuropathie, die durch einen plötzlich auftretenden, schmerzlosen Verlust des zentralen Sehvermögens, den Verlust retinaler Ganglienzellen und Optikusatrophie gekennzeichnet ist."},"es":{"name":"Neuropatía óptica hereditaria de Leber","synonyms":["Atrofia óptica de Leber","LHON","NOHL"],"definition":"Es una neuropatía óptica hereditaria poco frecuente que se caracteriza por una presentación súbita de pérdida indolora de la visión central, pérdida de las células ganglionares de la retina y atrofia óptica."},"it":{"name":"Neuropatia ottica ereditaria di Leber","synonyms":["Atrofia ottica di Leber","LHON"],"definition":"La neuropatia ottica ereditaria di Leber (LHON) è una neuropatia ottica ereditaria rara, caratterizzata dalla perdita improvvisa e indolore della visione centrale, dalla perdita delle cellule ganglionari della retina, e da atrofia ottica."},"nl":{"name":"Hereditaire opticusneuropathie van Leber","synonyms":["Hereditaire opticusatrofie van Leber","Hereditaire opticusneuropathie van Leber","LHON","LOA","Leber's erfelijke optische neuropathie","Leber's opticusatrofie"],"definition":"Een zeldzame hereditaire opticusneuropathie, gekenmerkt door plotse aanvang, pijnloos verlies van centraal gezichtsvermogen, verlies van retinale ganglioncellen, en opticusatrofie."},"pt":{"name":"Neuropatia óptica hereditária de Leber","synonyms":["Atrofia óptica tipo Leber","LHON"],"definition":"A neuropatia óptica hereditária de Leber (LHON) é uma doença mitocondrial neurodegenerativa que afeta o nervo óptico e muitas vezes caracterizada por perda de visão súbita nos portadores adultos jovens."},"pl":{"name":"Dziedziczna neuropatia nerwu wzrokowego Lebera","synonyms":["Atrofia nerwu wzrokowego Lebera","LHON"],"definition":"Rzadka dziedziczna neuropatia nerwu wzrokowego, charakteryzująca się nagłym początkiem, bezbolesną utratą widzenia centralnego, utratą komórek zwojowych siatkówki i zanikiem nerwu wzrokowego."},"cs":{"name":"Leberova hereditární optická neuropatie","synonyms":["LHON","Leberova optická atrofie","Dědičná Leberova atrofie"]},"uk":{"name":"Спадкова нейропатія зорового нерва Лебера","synonyms":["Атрофія зорового нерва Лебера","LHON"],"definition":"A rare hereditary optic neuropathy characterized by sudden onset, painless central vision loss, loss of retinal ganglion cells and optic atrophy."},"zh":{"name":"Leber遗传性视神经病","synonyms":["leber视神经萎缩"]},"tr":{"name":"Leber kalıtsal optik nöropati","synonyms":["LHON","Leber optik atrofisi"]}},"xrefs":[{"source":"OMIM","code":"308905","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"535000","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"619382","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620569","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H47.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C73.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1018428959"},{"source":"MONDO","code":"0010788","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D029242","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0917796","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6870","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98671,"name":"Hereditary optic neuropathy","classifications":[156,189]},{"orpha":254776,"name":"Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA","classifications":[150,156]}],"children":[],"genes":[{"symbol":"MT-CO1","name":"mitochondrially encoded cytochrome c oxidase I","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"1322638[PMID]","hgnc":"7419","ensembl":"ENSG00000198804","omim":"516030","loci":["mitochondria"]},{"symbol":"DNAJC30","name":"DnaJ heat shock protein family (Hsp40) member C30","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"33465056[PMID]","hgnc":"16410","ensembl":"ENSG00000176410","omim":"618202","loci":["7q11.23"]},{"symbol":"MT-ATP6","name":"mitochondrially encoded ATP synthase membrane subunit 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301353[PMID]","hgnc":"7414","ensembl":"ENSG00000198899","omim":"516060","loci":["mitochondria"]},{"symbol":"MT-CO3","name":"mitochondrially encoded cytochrome c oxidase III","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301353[PMID]","hgnc":"7422","ensembl":"ENSG00000198938","omim":"516050","loci":["mitochondria"]},{"symbol":"MT-CYB","name":"mitochondrially encoded cytochrome b","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301353[PMID]","hgnc":"7427","ensembl":"ENSG00000198727","omim":"516020","loci":["mitochondria"]},{"symbol":"MT-ND1","name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301353[PMID]","hgnc":"7455","ensembl":"ENSG00000198888","omim":"516000","loci":["mitochondria"]},{"symbol":"MT-ND2","name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301353[PMID]","hgnc":"7456","ensembl":"ENSG00000198763","omim":"516001","loci":["mitochondria"]},{"symbol":"MT-ND4","name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301353[PMID]","hgnc":"7459","ensembl":"ENSG00000198886","omim":"516003","loci":["mitochondria"]},{"symbol":"MT-ND4L","name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301353[PMID]","hgnc":"7460","ensembl":"ENSG00000212907","omim":"516004","loci":["mitochondria"]},{"symbol":"MT-ND5","name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301353[PMID]","hgnc":"7461","ensembl":"ENSG00000198786","omim":"516005","loci":["mitochondria"]},{"symbol":"MT-ND6","name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301353[PMID]","hgnc":"7462","ensembl":"ENSG00000198695","omim":"516006","loci":["mitochondria"]},{"symbol":"NDUFS2","name":"NADH:ubiquinone oxidoreductase core subunit S2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28031252[PMID]","hgnc":"7708","ensembl":"ENSG00000158864","omim":"602985","loci":["1q23.3"]}],"genes_via_subtypes":[],"inheritance":["Mitochondrial inheritance"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.6,"area":"Netherlands","status":"Validated","source":"16564802[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.3,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.3,"area":"Europe","status":"Validated","source":"21928272[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.22,"area":"United Kingdom","status":"Not yet validated","source":"12518276[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Finland","status":"Validated","source":"17406640[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.9743,"area":"Japan","status":"Validated","source":"35987635[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.85,"area":"Denmark","status":"Validated","source":"27007794[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-04-03","source":"20301353[PMID]_36061944[PMID]_20301353[PMID]","terms":[{"hpo":"HP:0200125","label":"Mitochondrial respiratory chain defects","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007924","label":"Slow decrease in visual acuity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000622","label":"Blurred vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000603","label":"Central scotoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000576","label":"Centrocecal scotoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000529","label":"Progressive visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007763","label":"Retinal telangiectasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012841","label":"Retinal vascular tortuosity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000512","label":"Abnormal electroretinogram","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000649","label":"Abnormality of visual evoked potentials","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000551","label":"Color vision defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002174","label":"Postural tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032036","label":"Reduced contrast sensitivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020120","label":"Retinal nerve fiber edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004309","label":"Ventricular preexcitation","frequency":"Occasional (29-5%)","criteria":null}]}}