{"orpha":99718,"name":"Leber plus disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["LHON plus disease"],"definition":"A rare inherited mitochondrial disease characterized by the clinical features of Leber hereditary optic neuropathy in combination with other systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, motor and sensory peripheral neuropathy, spasticity, mild encephalopathy, and cardiac arrhythmias.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99718/","orphanet_url":"https://www.orpha.net/en/disease/detail/99718","names":{"fr":{"name":"Maladie de Leber plus","synonyms":["Maladie de LHON plus"],"definition":"Maladie mitochondriale héréditaire rare caractérisée par les signes cliniques d'une neuropathie optique héréditaire de Leber associés à d'autres anomalies systémiques ou neurologiques. Ces anomalies comprennent : tremblement postural, trouble moteur, syndrome de type sclérose en plaques, trouble de la moelle épinière, modifications du squelette, parkinsonisme avec dystonie, anarthrie, dystonie, neuropathie sensitivomotrice périphérique, spasticité, encéphalopathie légère et arythmies cardiaques."},"de":{"name":"Leber plus-Krankheit","synonyms":["LHON plus-Krankheit"],"definition":"Eine seltene vererbte mitochondriale Störung, die durch die klinischen Merkmale der Leberschen hereditären Optikusneuropathie in Kombination mit anderen systemischen oder neurologischen Anomalien gekennzeichnet ist. Zu diesen Anomalien gehören: posturaler Tremor, motorische Störungen, Multiple-Sklerose-artiges Syndrom, Schädigung des Rückenmarks, Skelettveränderungen, Parkinsonismus mit Dystonie, Anarthrie, Dystonie, motorische und sensorische periphere Neuropathie, Spastizität, leichte Enzephalopathie und Herzrhythmusstörungen."},"es":{"name":"Enfermedad de Leber 'plus'","synonyms":["Enfermedad de LHON 'plus'"],"definition":"Es una enfermedad mitocondrial hereditaria poco frecuente caracterizada por los rasgos clínicos de la neuropatía óptica hereditaria de Leber acompañada de otras anomalías sistémicas o neurológicas, como temblor postural, trastorno motor, síndrome similar a la esclerosis múltiple, enfermedad de la médula espinal, cambios esqueléticos, parkinsonismo con distonía, anartria, distonía, neuropatía periférica sensitiva y motora, espasticidad, encefalopatía leve y arritmias cardíacas."},"it":{"name":"Malattia di Leber plus","definition":"Si tratta di una malattia mitocondriale ereditaria rara, caratterizzata dai segni clinici della neuropatia ottica ereditaria di Leber associati ad altre anomalie sistemiche o neurologiche, che comprendono il tremore posturale, le anomalie motorie, la malattia simil-sclerosi multipla, la malattia del midollo spinale, le alterazioni scheletriche, il parkinsonismo con distonia, l'anartria, la distonia, la neuropatia periferica motoria e sensoriale, la spasticità, l'encefalopatia lieve e le aritmie cardiache."},"nl":{"name":"Ziekte van Leber-plus","synonyms":["LHON-plus-ziekte"],"definition":"Een zeldzame erfelijke mitochondriale aandoening, gekenmerkt door de klinische kenmerken van hereditaire opticusneuropathie van Leber in combinatie met andere systemische of neurologische afwijkingen. Deze afwijkingen zijn onder meer posturale tremor, motorische stoornis, op multipele sclerose gelijkend syndroom, aandoening van ruggenmerg, veranderingen van skelet, parkinsonisme met dystonie, anartrie, dystonie, motorische en sensorische perifere neuropathie, spasticiteit, milde encefalopathie, en hartritmestoornissen."},"pt":{"name":"Doença de Leber 'plus'","definition":"Doença mitocondrial hereditária rara com características clínicas de neuropatia óptica hereditária de Leber em combinação com outras anomalias sistémicas ou neurológicas. Essas anomalias incluem: tremor postural, distúrbio motor, síndrome semelhante à esclerose múltipla, doença da medula espinhal, alterações esqueléticas, parkinsonismo com distonia, anartria, distonia, neuropatia periférica motora e sensorial, espasticidade, encefalopatia leve e arritmias cardíacas."},"pl":{"name":"Choroba Lebera 'plus'","synonyms":["LHON plus disease"]},"cs":{"name":"Leberova choroba plus","synonyms":["LHON+"]},"uk":{"name":"Хвороба Лебера плюс","synonyms":["Хвороба LHON плюс"],"definition":"A rare inherited mitochondrial disease characterized by the clinical features of Leber hereditary optic neuropathy in combination with other systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, motor and sensory peripheral neuropathy, spasticity, mild encephalopathy, and cardiac arrhythmias."},"zh":{"name":"Leber+病综合征","synonyms":["LHON+病"],"definition":"Leber‘plus’病描述的是具有Leber遗传性视神经病变(LHON；见该词条)临床特征并伴有其他严重的全身或神经异常的患者。这些异常包括：姿势震颤、运动障碍、多发性硬化症、脊髓疾病、骨骼改变、帕金森症伴肌张力障碍、节律障碍、肌张力障碍、运动和感觉周围神经病变、痉挛和轻度脑病。它是由母系遗传的线粒体DNA(MtDNA)突变引起的。"},"tr":{"name":"Leber hastalığı","synonyms":["LHON artı hastalığı"]}},"xrefs":[{"source":"OMIM","code":"165200","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"500001","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":"1075890287"},{"source":"MONDO","code":"0020478","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304725","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8476","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":217613,"name":"Mitochondrial disease with dilated cardiomyopathy","classifications":[146,156,233]},{"orpha":217587,"name":"Mitochondrial disease with hypertrophic cardiomyopathy","classifications":[146,156,233]},{"orpha":254776,"name":"Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA","classifications":[150,156]}],"children":[],"genes":[{"symbol":"MT-ND3","name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19458970[PMID]","hgnc":"7458","ensembl":"ENSG00000198840","omim":"516002","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":"8644732[PMID]","hgnc":"7459","ensembl":"ENSG00000198886","omim":"516003","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":"8016139[PMID]_8644732[PMID]","hgnc":"7462","ensembl":"ENSG00000198695","omim":"516006","loci":["mitochondria"]}],"genes_via_subtypes":[],"inheritance":["Mitochondrial inheritance"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.04,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":null}