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eye degenerative disease (MONDO:0004884)
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hereditary optic atrophy (MONDO:0043878)
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hereditary optic neuropathy (MONDO:0020249)
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mitochondrial disease with dilated cardiomyopathy (MONDO:0016335)
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mitochondrial disease with eye involvement (MONDO:0020265)
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mitochondrial disease with hypertrophic cardiomyopathy (MONDO:0016327)
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mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA (MONDO:0016793)
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Leber hereditary optic neuropathy ()

       Child Nodes:
........expandLeber optic atrophy and dystonia ()  LSDB  L: 00149;
........expandLeber optic atrophy, susceptibility to ()  LSDB  L: 00492;



 Sister Nodes: 
..expandhypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation ()
..expandLeber hereditary optic neuropathy ()  LSDB  L: 00072;
..expandLeber plus disease ()
..expandmaternally-inherited diabetes and deafness ()  LSDB  L: 00165;
..expandmaternally-inherited Leigh syndrome ()
..expandmaternally-inherited mitochondrial dystonia ()
..expandmaternally-inherited mitochondrial myopathy ()
..expandMELAS syndrome ()  LSDB  L: 00163;
..expandMERRF syndrome ()  LSDB  L: 00162;
..expandmitochondrial non-syndromic sensorineural deafness ()  LSDB  L: 00159;
..expandmitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure ()  LSDB  L: 00051;
..expandNARP syndrome ()  LSDB  L: 00168;
..expandperiodic paralysis with later-onset distal motor neuropathy ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:10788
Name:Leber hereditary optic neuropathy
Definition:Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.
Alternative IDs:535000
ParentIDs:
TreeNumbers:
Synonyms:Leber Hereditary optic atrophy; Leber hereditary optic neuropathy; Leber optic atrophy; Leber's hereditary optic neuropathy; Leber's optic atrophy; Leberbs disease; LHON; optic atrophy, Leber type
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM: 535000;
MSeqDR LSDB: 00072;  
Genes:
Phenotypes
1 HP:0001427Mitochondrial inheritance
2 HP:0011675Arrhythmia
NAMDC:  Cardiac conduction block
3 HP:0001251Ataxia
4 HP:0007768Central retinal vessel vascular tortuosity
5 HP:0000576Centrocecal scotoma
6 HP:0001332Dystonia
NAMDC:  Dystonia
7 HP:0001425Heterogeneous
8 HP:0003829Incomplete penetrance
9 HP:0001112Leber optic atrophy
10 HP:0003198Myopathy
NAMDC:  Myopathy
11 HP:0000648Optic atrophy
12 HP:0001138Optic neuropathy
NAMDC:  Optic neuropathy
HP:0040282
13 HP:0001271Polyneuropathy
14 HP:0002174Postural tremor
15 HP:0000572Visual loss
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_012920.1(MT-ATP6):m.8783G>A4508MT-ATP6Pathogenic/Likely pathogenic1603221804RCV000854322|RCV002249549; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104M87838783M:g.8783G>A-
NC_012920.1:m.8969G>A4508MT-ATP6Likely pathogenic794726857RCV000171545|RCV000854381|RCV002247579|RCV002260628; YMONDO:MONDO:0010782,MedGen:C4225415,OMIM:500011, Orphanet:2598|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:1M89698969m.8969G>AClinGen:CA199769,OMIM:516060.0012C4225415 500011 Myopathy, lactic acidosis, and sideroblastic anemia 3;
NC_012920.1:m.9176T>G4508MT-ATP6Likely pathogenic199476135RCV000010285|RCV000754649|RCV001542708|RCV001543462|RCV002221473; YMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0027069,MedGen:C3275684,OMIM:500015|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MedGen:C366M91769176M:g.9176T>GClinGen:CA340929,OMIM:516060.0011C0023264 256000 Leigh syndrome;
NC_012920.1:m.8686T>C4508MT-ATP6Uncertain significance1569484231RCV000709918|RCV000854289; NHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104; MONDO:MONDO:0010794,MedGen:C1328349,OMIM:551500, Orphanet:644; MedGen:CN043634|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:25M86868686m.8686T>C-
NC_012920.1:m.8851T>C4508MT-ATP6Uncertain significance199476136RCV000010280|RCV000144005|RCV001268336|RCV001542705|RCV002221472; YMONDO:MONDO:0010774,MedGen:C1839022,OMIM:500003|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, OrphanetM88518851M:g.8851T>CClinGen:CA120598,OMIM:516060.0006C0023264 256000 Leigh syndrome;
m.9101T>C4508MT-ATP6Benign199476134RCV000010277|RCV000854439; NHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91019101M:g.9101T>CClinGen:CA340927,OMIM:516060.0003C0917796 535000 Leber's optic atrophy;
NC_012920.1:m.9205_9206del-1MT-ATP6;MT-CO3Likely pathogenic199476137RCV000010281|RCV002247301|RCV002260586; YMedGen:C4016603|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380M92049205M:g.9204_9205delClinGen:CA120599,OMIM:516050.0007,OMIM:516060.0007C4016603 Seizures and lactic acidosis;
NC_012920.1:m.7444G>A-1MT-CO1;MT-TS1Likely benign199474822RCV000010299|RCV000010301|RCV000010300|RCV000854073|RCV001268422|RCV003319164; YHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0010779,MedGen:C3151897,OMIM:500008, Orphanet:90641|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:M74447444M:g.7444G>AClinGen:CA254851,OMIM:516030.0001,OMIM:590080.0006C1838854 580000 Aminoglycoside-induced deafness;
NC_012920.1:m.9237G>A4514MT-CO3Pathogenic1057516064RCV000408945|RCV002248640; NMONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544; Human Phenotype Ontology:HP:0006789,MedGen:C1852373; MedGen:C0424605|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104M92379237M:g.9237G>AClinGen:CA16040652C0424605 Developmental delay;
m.9438G>A4514MT-CO3Benign267606611RCV000010286|RCV000854514; NHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94389438M:g.9438G>AClinGen:CA254850,OMIM:516050.0001C0917796 535000 Leber's optic atrophy;
m.9804G>A4514MT-CO3Conflicting interpretations of pathogenicity200613617RCV000010287|RCV000756352|RCV000854582|RCV001196020; NHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|M98049804M:g.9804G>AClinGen:CA340930,OMIM:516050.0002C0917796 535000 Leber's optic atrophy;
m.15150G>A4519MT-CYBPathogenic207460000RCV000010319|RCV000855232|RCV002247305; NHuman Phenotype Ontology:HP:0003546,MedGen:C0424551|MONDO:MONDO:0010780,MedGen:C3151898,OMIM:500009, Orphanet:254864|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104M1515015150M:g.15150G>AClinGen:CA120619,OMIM:516020.0008C0424551 Exercise intolerance;
NC_012920.1(MT-CYB):m.14795T>C4519MT-CYBUncertain significance1603224896RCV000855158|RCV002287449; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104M1479514795M:g.14795T>C-
m.14831G>A4519MT-CYBBenign199795644RCV000055706|RCV000855165; NHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1483114831M:g.14831G>AClinGen:CA344826C0917796 535000 Leber's optic atrophy;
m.15257G>A4519MT-CYBBenign41518645RCV000010312|RCV000855257; NHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1525715257M:g.15257G>AClinGen:CA340931,OMIM:516020.0001C0917796 535000 Leber's optic atrophy;
NC_012920.1(MT-CYB):m.15437G>A4519MT-CYBUncertain significance878853058RCV000224435|RCV000764855|RCV000855292; NMedGen:CN517202|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104; MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:25M1543715437M:g.15437G>AClinGen:CA10581343CN517202 not provided;
m.15579A>G4519MT-CYBUncertain significance207460002RCV000010321|RCV000855325|RCV002247306|RCV003153301; YMedGen:C0559758|MONDO:MONDO:0010780,MedGen:C3151898,OMIM:500009, Orphanet:254864|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0044970,MeSH:D028361,MedGen:M1557915579M:g.15579A>GClinGen:CA120621,OMIM:516020.0010C0559758 Multisystem disorder;
m.15812G>A4519MT-CYBBenign200336777RCV000010313|RCV000855379; NHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1581215812M:g.15812G>AClinGen:CA254852,OMIM:516020.0002C0917796 535000 Leber's optic atrophy;
m.3946G>A4535MT-ND1Pathogenic/Likely pathogenic199476123RCV000010387|RCV000853718|RCV001542704; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:10M39463946M:g.3946G>AClinGen:CA254862,OMIM:516000.0013C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
NC_012920.1:m.3460G>A4535MT-ND1Pathogenic199476118RCV000010370|RCV000143998|RCV000735416|RCV000757484|RCV003319165; YHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506||MedGen:C3661900|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0M34603460M:g.3460G>AClinGen:CA120646,OMIM:516000.0001C0917796 535000 Leber's optic atrophy;
m.4160T>C4535MT-ND1Pathogenic199476119RCV000010372; NHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104M41604160M:g.4160T>CClinGen:CA340942,OMIM:516000.0002C0917796 535000 Leber's optic atrophy;
m.3635G>A4535MT-ND1Likely pathogenic397515507RCV000055707|RCV002291214; YHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380M36353635M:g.3635G>AClinGen:CA344827C0917796 535000 Leber's optic atrophy;
m.3697G>A4535MT-ND1Likely pathogenic199476122RCV000010385|RCV000010386|RCV000056168|RCV002221474|RCV003298030; YMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0010772,MedGen:C1839040,OMIM:500001, Orphanet:99718|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:M36973697M:g.3697G>AClinGen:CA120647,OMIM:516000.0012C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
m.3376G>A4535MT-ND1Uncertain significance397515612RCV000056167|RCV002260605; YHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380M33763376M:g.3376G>AClinGen:CA345259C0917796 535000 Leber's optic atrophy;
m.3394T>C4535MT-ND1Conflicting interpretations of pathogenicity41460449RCV000010375|RCV000507319|RCV000853650; NHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33943394M:g.3394T>CClinGen:CA340944,OMIM:516000.0004C0917796 535000 Leber's optic atrophy;
m.3700G>A4535MT-ND1Uncertain significance397515508RCV000055708|RCV000415448|RCV002221484; YHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|Human Phenotype Ontology:HP:0000512,Human Phenotype Ontology:HP:0003285,MedGen:C0476397; Human Phenotype Ontology:HP:0001M37003700M:g.3700G>AClinGen:CA344828C1849688 Abnormal electroretinogram;
m.3733G>A4535MT-ND1Uncertain significance199476125RCV000010389|RCV002221475; YHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380M37333733M:g.3733G>AClinGen:CA340950,OMIM:516000.0015C0917796 535000 Leber's optic atrophy;
m.4025C>T4535MT-ND1Benign397515509RCV000055709|RCV000853724; NHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M40254025M:g.4025C>TClinGen:CA344829C0917796 535000 Leber's optic atrophy;
m.4136A>G4535MT-ND1Benign199476121RCV000010378|RCV000853739; NHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M41364136M:g.4136A>GClinGen:CA254860,OMIM:516000.0006C0917796 535000 Leber's optic atrophy;
m.4171C>A4535MT-ND1Uncertain significance28616230RCV000010384|RCV002260596; YHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380M41714171M:g.4171C>AClinGen:CA340948,OMIM:516000.0010C0917796 535000 Leber's optic atrophy;
m.4216T>C4535MT-ND1Benign1599988RCV000010373|RCV000709875|RCV000853749; NHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M42164216M:g.4216T>CClinGen:CA340943,OMIM:516000.0003C0917796 535000 Leber's optic atrophy;
m.5244G>A4536MT-ND2Pathogenic199476115RCV000010365; NHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104M52445244M:g.5244G>AClinGen:CA340940,OMIM:516001.0002C0917796 535000 Leber's optic atrophy;
m.4640C>A4536MT-ND2Benign387906426RCV000010366|RCV000853787; NHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M46404640M:g.4640C>AClinGen:CA340941,OMIM:516001.0003C0917796 535000 Leber's optic atrophy;
m.4917A>G4536MT-ND2Benign28357980RCV000010364|RCV000853834; NHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M49174917M:g.4917A>GOMIM:516001.0001,ClinGen:CA254858C0917796 535000 Leber's optic atrophy;
m.10237T>C4537MT-ND3Benign1556423787RCV000055695|RCV000854632; NHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1023710237M:g.10237T>CClinGen:CA344819C0917796 535000 Leber's optic atrophy;
NC_012920.1:m.11778G>A4538MT-ND4Pathogenic199476112RCV000010354|RCV000224219|RCV002260593|RCV002285007|RCV002288481; YHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MedGen:C3661900|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MedGen:CN169374|MONDO:MONDO:0010640,MedGM1177811778M:g.11778G>AClinGen:CA340939,OMIM:516003.0001C0917796 535000 Leber's optic atrophy;
m.11777C>A4538MT-ND4Likely pathogenic28384199RCV000010357|RCV000144013|RCV000854746|RCV002260594; YMONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONM1177711777M:g.11777C>AClinGen:CA120636,OMIM:516003.0004C0023264 256000 Leigh syndrome;
m.11253T>C4538MT-ND4Benign200145866RCV000055696|RCV000854721; NHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1125311253M:g.11253T>CClinGen:CA344820C0917796 535000 Leber's optic atrophy;
m.11696G>A4538MT-ND4Benign200873900RCV000010356|RCV000055697|RCV000854742; NMONDO:MONDO:0010772,MedGen:C1839040,OMIM:500001, Orphanet:99718|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:M1169611696M:g.11696G>AClinGen:CA120635,OMIM:516003.0003C1839040 500001 Leber hereditary optic neuropathy with dystonia;
m.10663T>C4539MT-ND4LLikely pathogenic1556423844RCV000010353|RCV003153302; YHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380M1066310663M:g.10663T>CClinGen:CA340938,OMIM:516004.0002C0917796 535000 Leber's optic atrophy;
NC_012920.1:m.13051G>A4540MT-ND5Pathogenic/Likely pathogenic1131692063RCV000495629|RCV000854887; YMONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104M1305113051M:g.13051G>AClinGen:CA414816093C0751651 Mitochondrial diseases;
NC_012920.1(MT-ND5):m.13063G>A4540MT-ND5Pathogenic/Likely pathogenic1603224017RCV000854888|RCV002249551; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104M1306313063M:g.13063G>A-
NC_012920.1(MT-ND5):m.12425del4540MT-ND5Pathogenic1603223730RCV000854811|RCV002226500|RCV002249550; NMONDO:MONDO:0010780,MedGen:C3151898,OMIM:500009, Orphanet:254864|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, OrphanetM1241812418M:g.12418_12418del-
m.12848C>T4540MT-ND5Pathogenic267606899RCV000010350; NHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104M1284812848M:g.12848C>TClinGen:CA340937,OMIM:516005.0009C0917796 535000 Leber's optic atrophy;
m.13045A>C4540MT-ND5Pathogenic267606895RCV000010340|RCV000010341|RCV000010342; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MedGen:C1838951M1304513045M:g.13045A>CClinGen:CA120629,OMIM:516005.0005C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
NC_012920.1:m.13094T>C4540MT-ND5Pathogenic1603224029RCV000854891|RCV002291219|RCV002249552; YMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, OrphanetM1309413094M:g.13094T>C-
m.13730G>A4540MT-ND5Pathogenic387906425RCV000010337; NHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104M1373013730M:g.13730G>AClinGen:CA340936,OMIM:516005.0002C0917796 535000 Leber's optic atrophy;
m.12706T>C4540MT-ND5Likely pathogenic267606893RCV000010338|RCV000144015|RCV002247308|RCV002260591; YMedGen:C1838951|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C07M1270612706M:g.12706T>CClinGen:CA120628,OMIM:516005.0003C0023264 256000 Leigh syndrome;
NC_012920.1(MT-ND5):m.12923G>A4540MT-ND5Likely pathogenic-1RCV003150916|RCV003150917|RCV003150918; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:10M1292312923-
m.12338T>C4540MT-ND5Benign201863060RCV000022893|RCV000854787; NHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1233812338M:g.12338T>CClinGen:CA259737,OMIM:516005.0011C0917796 535000 Leber's optic atrophy;
m.12811T>C4540MT-ND5Benign199974018RCV000055698|RCV000507393|RCV000854857|RCV003319177; NHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C07M1281112811M:g.12811T>CClinGen:CA344821C0917796 535000 Leber's optic atrophy;
m.13637A>G4540MT-ND5Benign200855215RCV000055699|RCV000854959; NHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1363713637M:g.13637A>GClinGen:CA344822C0917796 535000 Leber's optic atrophy;
m.13708G>A4540MT-ND5Benign28359178RCV000010336|RCV000854970; NHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1370813708M:g.13708G>AClinGen:CA340935,OMIM:516005.0001C0917796 535000 Leber's optic atrophy;
NC_012920.1(MT-ND5):m.13763C>T4540MT-ND5Likely benign1603224344RCV000854982|RCV001824897; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN043634; Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104; MONDO:MONDO:0010789,MedGen:C0162671,OMIM:54M1376313763M:g.13763C>T-
m.14459G>A4541MT-ND6Pathogenic199476105RCV000010326|RCV000010328|RCV000010327|RCV000144019|RCV001796715; YMONDO:MONDO:0010772,MedGen:C1839040,OMIM:500001, Orphanet:99718|MedGen:C1838951|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:M1445914459M:g.14459G>AClinGen:CA120625,OMIM:516006.0002C1839040 500001 Leber hereditary optic neuropathy with dystonia;
NC_012920.1:m.14484T>C4541MT-ND6Pathogenic199476104RCV000010325|RCV000144018|RCV000223709|RCV003162238; YHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C07M1448414484M:g.14484T>CClinGen:CA340932,OMIM:516006.0001C0917796 535000 Leber's optic atrophy;
m.14487T>C4541MT-ND6Pathogenic199476109RCV000010333|RCV000010334|RCV000144020|RCV002247307|RCV003162239; YMedGen:C1838951|MedGen:C1838954|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0044970,MeSH:D0M1448714487M:g.14487T>CClinGen:CA120627,OMIM:516006.0007C0023264 256000 Leigh syndrome;
m.14596A>T4541MT-ND6Pathogenic387906424RCV000010329|RCV000055704; NMONDO:MONDO:0010772,MedGen:C1839040,OMIM:500001, Orphanet:99718|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104M1459614596M:g.14596A>TClinGen:CA120626,OMIM:516006.0003C1839040 500001 Leber hereditary optic neuropathy with dystonia;
m.14482C>A4541MT-ND6Likely pathogenic199476108RCV000010332|RCV002260590; YHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380M1448214482M:g.14482C>AClinGen:CA340934,OMIM:516006.0006C0917796 535000 Leber's optic atrophy;
m.14482C>G4541MT-ND6Likely pathogenic199476108RCV000055701|RCV003162433; YHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380M1448214482M:g.14482C>GClinGen:CA344824C0917796 535000 Leber's optic atrophy;
m.14495A>G4541MT-ND6Likely pathogenic199476106RCV000010330|RCV002260588; YHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380M1449514495M:g.14495A>GClinGen:CA340933,OMIM:516006.0004C0917796 535000 Leber's optic atrophy;
m.14568C>T4541MT-ND6Likely pathogenic397515506RCV000055703|RCV002260604; YHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380M1456814568M:g.14568C>TClinGen:CA344825C0917796 535000 Leber's optic atrophy;
m.14279G>A4541MT-ND6Uncertain significance869025187RCV000055705|RCV000855082; NHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1427914279m.14279G>AClinGen:CA356575C0917796 535000 Leber's optic atrophy;
m.14325T>C4541MT-ND6Benign397515505RCV000055700|RCV000855092; NHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1432514325M:g.14325T>CClinGen:CA344823C0917796 535000 Leber's optic atrophy;
m.14498T>C4541MT-ND6Uncertain significance869025186RCV000055702|RCV000855115; NHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1449814498M:g.14498T>CClinGen:CA356574C0917796 535000 Leber's optic atrophy;
NC_012920.1(MT-ND6):m.14502T>C4541MT-ND6Benign201327354RCV000851178|RCV000855116; NHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1450214502M:g.14502T>C-
NM_001377299.1(NDUFS2):c.268G>A (p.Ala90Thr)4720NDUFS2Likely pathogenic1553249704RCV000625868; NHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:10411611762621611762621:g.161176262G>AClinGen:CA343377955C0917796 535000 Leber's optic atrophy;
NM_006150.5(PRICKLE3):c.157C>T (p.Arg53Trp)4007PRICKLE3risk factor2065470015RCV001281698; NHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104X490403424904034249040342OMIM:300111.0001
NM_006269.2(RP1):c.4376A>G (p.Glu1459Gly)6101RP1Uncertain significance1315126444RCV001290414|RCV001366428; NHuman Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MedGen:C36619008555408185554081855540818-
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000198899 MSeqDR Search EnsemblMT-ATP6116mitochondrially encoded ATP synthase 6 [Source:HGNC Symbol;Acc:7414]00072
ENSG00000198938 MSeqDR Search EnsemblMT-CO3123mitochondrially encoded cytochrome c oxidase III [Source:HGNC Symbol;Acc:7422]00072
ENSG00000198727 MSeqDR Search EnsemblMT-CYB137mitochondrially encoded cytochrome b [Source:HGNC Symbol;Acc:7427]00072
ENSG00000198888 MSeqDR Search EnsemblMT-ND111413mitochondrially encoded NADH dehydrogenase 1 [Source:HGNC Symbol;Acc:7455]00072
ENSG00000198763 MSeqDR Search EnsemblMT-ND2133mitochondrially encoded NADH dehydrogenase 2 [Source:HGNC Symbol;Acc:7456]00072
ENSG00000198886 MSeqDR Search EnsemblMT-ND4134mitochondrially encoded NADH dehydrogenase 4 [Source:HGNC Symbol;Acc:7459]00072
ENSG00000212907 MSeqDR Search EnsemblMT-ND4L111mitochondrially encoded NADH dehydrogenase 4L [Source:HGNC Symbol;Acc:7460]00072
ENSG00000198786 MSeqDR Search EnsemblMT-ND51714mitochondrially encoded NADH dehydrogenase 5 [Source:HGNC Symbol;Acc:7461]00072
ENSG00000198695 MSeqDR Search EnsemblMT-ND611012mitochondrially encoded NADH dehydrogenase 6 [Source:HGNC Symbol;Acc:7462]00072

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