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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:Leigh disease
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Accession:DOID:3652 term browser browse the term
Definition:A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).
Synonyms:exact_synonym: Infantile Leigh Disease;   Infantile Subacute Necrotizing Encephalopathy;   Infantile necrotizing encephalomyelopathy;   Juvenile Leigh Disease;   Juvenile Subacute Necrotizing Encephalopathy;   LS;   Leigh Syndrome;   Leigh's Disease;   Leighs Disease;   Necrotising encephalopathy, subacute, of Leigh;   Subacute Necrotizing Encephalomyelitides;   Subacute Necrotizing Encephalomyelitis;   Subacute Necrotizing Encephalomyelitis, Infantile;   Subacute Necrotizing Encephalomyelopathies;   Subacute Necrotizing Encephalomyelopathy;   Subacute Necrotizing Encephalopathies;   Subacute Necrotizing Encephalopathy;   juvenile subacute necrotizing encephalomyelopathy
 narrow_synonym: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY;   LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX III DEFICIENCY;   LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY;   LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX V DEFICIENCY;   NECROTIZING ENCEPHALOPATHY, INFANTILE SUBACUTE, OF LEIGH;   SNE LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
 primary_id: MESH:D007888;   RDO:0000603
 alt_id: OMIA:001097;   OMIM:256000
 xref: GARD:6877;   ICD10CM:G31.82;   NCI:C84814;   ORDO:506
For additional species annotation, visit the Alliance of Genome Resources.

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Leigh disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO
ISS		 ClinVar Annotator: match by OMIM:256000
ClinVar Annotator: match by term: Leigh syndrome		 ClinVar
MouseDO		 PMID:9545407, PMID:12215968, PMID:12910490, PMID:17314340, PMID:17403714, PMID:18771761, PMID:19389488, PMID:19508421, PMID:20518024, PMID:22277166, PMID:24033266, PMID:24172246, PMID:25741868, PMID:25895478, PMID:25914718, PMID:26467025, PMID:28492532 NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197 		JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO ClinVar Annotator: match by OMIM:256000
ClinVar Annotator: match by term: Leigh syndrome		 ClinVar PMID:23814038, PMID:25741868, PMID:28492532 NCBI chr10:50,439,778...50,563,920
Ensembl chr10:50,439,782...50,574,539 		JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:15863660, PMID:21412973, PMID:22310368, PMID:25741868, PMID:26959537, PMID:28492532, PMID:15235026 RGD:1598467 NCBI chr 1:263,494,850...263,511,510
Ensembl chr 1:263,494,852...263,511,505 		JBrowse link
G Cutc cutC copper transporter ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr 1:263,511,537...263,526,308
Ensembl chr 1:263,511,537...263,526,307 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Leigh's disease		 ClinVar PMID:25741868, PMID:28492532 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO ClinVar Annotator: match by term: Leigh syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:25125611, PMID:25393721, PMID:26099313 NCBI chr 1:212,570,213...212,579,040
Ensembl chr 1:212,570,195...212,579,057 		JBrowse link
G Entpd7 ectonucleoside triphosphate diphosphohydrolase 7 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr 1:263,448,633...263,490,308
Ensembl chr 1:263,448,633...263,490,308
Ensembl chr 1:263,448,633...263,490,308 		JBrowse link
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr 2:39,434,617...39,473,392
Ensembl chr 2:39,434,634...39,472,017 		JBrowse link
G Fastkd2 FAST kinase domains 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:31944455 NCBI chr 9:70,448,386...70,471,420
Ensembl chr 9:70,450,444...70,470,550 		JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Subacute necrotizing encephalopathy
ClinVar Annotator: match by term: Leigh's disease		 ClinVar PMID:20818383, PMID:22200994, PMID:23757202, PMID:24033266, PMID:25678554, PMID:25741868, PMID:25803036, PMID:28492532, PMID:28654958, PMID:30311386, PMID:30723688 NCBI chr 8:36,401,317...36,410,589
Ensembl chr 8:36,403,493...36,410,612 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Leigh's disease		 ClinVar PMID:12468279, PMID:25741868 NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998 		JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Leigh's disease ClinVar PMID:25130867, PMID:28492532 NCBI chr13:103,229,868...103,265,019
Ensembl chr13:103,231,387...103,264,906 		JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr 6:50,528,796...50,596,593
Ensembl chr 6:50,528,823...50,596,079 		JBrowse link
G Lrpprc leucine-rich pentatricopeptide repeat containing ISO Leigh syndrome French Canadian variant
ClinVar Annotator: match by term: Leigh syndrome		 ClinVar PMID:28492532, PMID:17050673, PMID:12529507 RGD:1600674, RGD:1600676 NCBI chr 6:7,984,043...8,066,874
Ensembl chr 6:7,984,019...8,066,868 		JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:2877793, PMID:25741868, PMID:28777931 NCBI chr10:14,257,001...14,258,132
Ensembl chr10:14,257,001...14,258,132 		JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Leigh's disease
ClinVar Annotator: match by term: Leigh syndrome		 ClinVar PMID:1436530, PMID:1539598, PMID:1550128, PMID:2137962, PMID:3612192, PMID:7668837, PMID:7726182, PMID:8042671, PMID:8095070, PMID:8190310, PMID:8250532, PMID:8395787, PMID:8554662, PMID:8602753, PMID:8630495, PMID:8644724, PMID:8750605, PMID:9199572, PMID:9270604, PMID:9329425, PMID:9501263, PMID:9556461, PMID:9568930, PMID:9631394, PMID:9762610, PMID:9883875, PMID:10590437, PMID:10660580, PMID:10676807, PMID:10889120, PMID:11076946, PMID:11119722, PMID:11245730, PMID:11371515, PMID:11382202, PMID:11730668, PMID:11731285, PMID:11751691, PMID:11843698, PMID:11916326, PMID:11925565, PMID:14697245, PMID:14998933, PMID:15120634, PMID:16049925, PMID:16050984, PMID:16217706, PMID:17123466, PMID:17352390, PMID:17452590, PMID:17663470, PMID:18055910, PMID:18216301, PMID:18461509, PMID:18495510, PMID:18682780, PMID:19454486, PMID:19626676, PMID:19667215, PMID:20211276, PMID:22110754, PMID:22231385, PMID:22577227, PMID:22789932, PMID:22933740, PMID:23206802, PMID:23266623, PMID:23304069, PMID:24002810, PMID:24088041, PMID:24118886, PMID:24986921, PMID:25741868, PMID:26633545, PMID:26993169, PMID:28027978, PMID:29307858, PMID:30311386, PMID:32313153, PMID:32581362 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:1757091, PMID:7633428, PMID:9243242, PMID:11062027, PMID:14697245, PMID:17101920, PMID:18682780, PMID:20207608, PMID:24153443, PMID:25741868, PMID:25941154, PMID:26993169 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961 		JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:1322638, PMID:1634041, PMID:1732158, PMID:8060346, PMID:8240356, PMID:8680405, PMID:9742104, PMID:9806551, PMID:9832034, PMID:10577941, PMID:12140182, PMID:13298683, PMID:15647368, PMID:16152638, PMID:17659260, PMID:19460299, PMID:20301595, PMID:22130971, PMID:24713204, PMID:25701779, PMID:25741868, PMID:26467025 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:11799391, PMID:12612282, PMID:17637808, PMID:18337306, PMID:19398658, PMID:22241583, PMID:24931671, PMID:25741868, PMID:26467025, PMID:32313153 NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689 		JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Leigh's disease
ClinVar Annotator: match by term: Leigh syndrome		 ClinVar PMID:7496173, PMID:7573056, PMID:7804416, PMID:8037217, PMID:8240356, PMID:11063732, PMID:15823923, PMID:16358358, PMID:17403843, PMID:18587274, PMID:20525945, PMID:23645088, 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 term: Leigh syndrome
ClinVar Annotator: match by term: Leigh's disease		 ClinVar PMID:1732158, PMID:1764087, PMID:7901141, PMID:8240104, PMID:8321540, PMID:8755941, PMID:9806551, PMID:10329023, PMID:10453733, PMID:10894993, PMID:10960495, PMID:11047755, PMID:11891837, PMID:12150954, PMID:12905068, PMID:13298683, PMID:17003408, PMID:17637808, PMID:19062322, PMID:19555656, PMID:22241583, PMID:24667782, PMID:25741868, PMID:26566881, PMID:28027978 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 ClinVar Annotator: match by term: Leigh's disease
ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Leigh Disease		 ClinVar PMID:1417830, PMID:1442494, PMID:1550131, PMID:1674640, PMID:1732158, PMID:1734726, PMID:1900003, PMID:1928099, PMID:1959619, PMID:7624338, PMID:8496715, PMID:9299504, PMID:9806551, PMID:10519336, PMID:10520236, PMID:10521313, PMID:10704697, PMID:11238687, PMID:11854175, PMID:11938495, PMID:12160969, PMID:12205655, PMID:12406974, PMID:12610069, PMID:12756609, PMID:13298683, PMID:14681830, PMID:15465027, PMID:15466014, PMID:15896721, PMID:15972314, PMID:15977098, PMID:16050984, PMID:16738010, PMID:16807713, PMID:16828917, PMID:16849371, PMID:16895436, PMID:16949108, PMID:17454741, PMID:17517629, PMID:17535832, PMID:17620555, PMID:17637808, PMID:18216301, PMID:18502698, PMID:18504678, PMID:18691441, PMID:18977334, PMID:20211276, PMID:20643099, PMID:20978534, PMID:21129724, PMID:21144833, PMID:21296687, PMID:21364701, PMID:22241583, PMID:22780954, PMID:24063851, PMID:24146900, PMID:24153443, PMID:24986921, PMID:25741868, PMID:26262956, PMID:26428318, PMID:26467025, PMID:27177320, PMID:27343181, PMID:28187756, PMID:28708239, PMID:28821228, PMID:29330893, PMID:30311386 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 ClinVar Annotator: match by term: Leigh Disease
ClinVar Annotator: match by term: Leigh syndrome		 ClinVar PMID:1900003, PMID:11479733, PMID:11820805, PMID:12406974, PMID:15286228, PMID:16738010, PMID:18682780, PMID:19370763, PMID:25741868, PMID:28187756, PMID:29481798 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: Leigh syndrome
ClinVar Annotator: match by term: Leigh Disease
ClinVar Annotator: match by term: Leigh's disease		 ClinVar PMID:6343397, PMID:11456298, PMID:12227465, PMID:14684687, PMID:14705112, PMID:14764913, PMID:15372108, PMID:15576045, PMID:16023078, PMID:17066297, PMID:17152068, PMID:17413873, PMID:17535832, PMID:19458970, PMID:20202874, PMID:25118196, PMID:25741868, PMID:14705112 RGD:5507824 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 ClinVar Annotator: match by term: Leigh's disease
ClinVar Annotator: match by term: Leigh syndrome		 ClinVar PMID:1323207, PMID:1469456, PMID:3395302, PMID:8213827, PMID:8644732, PMID:12707444, PMID:14581685, PMID:15576045, PMID:15972314, PMID:16120329, PMID:17022785, PMID:25741868, PMID:28027978 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 ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:19394449, PMID:20643099, PMID:29444077 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 DNA:mutation: exon:m.13513 G>A (D393N)(human)
ClinVar Annotator: match by term: Leigh's disease
ClinVar Annotator: match by term: Leigh syndrome		 ClinVar PMID:1417830, PMID:1732158, PMID:1764087, PMID:1900003, PMID:9299505, PMID:10589546, PMID:11102991, PMID:11198278, PMID:11938446, PMID:12624137, PMID:14520659, PMID:14684687, PMID:14730434, PMID:15521990, PMID:15576045, PMID:16306525, PMID:17003408, PMID:17264866, PMID:17317336, PMID:17400793, PMID:17535832, PMID:17940288, PMID:18246027, PMID:18332249, PMID:18524835, PMID:18977334, PMID:21131053, PMID:22780954, PMID:23463613, PMID:25701779, PMID:25741868, PMID:27422531, PMID:29987491, PMID:18495510 RGD:5491185 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:missense mutation: :m.14487T>C (p.M63V) (human)
ClinVar Annotator: match by term: Leigh's disease
ClinVar Annotator: match by term: Leigh syndrome		 ClinVar PMID:1463007, PMID:1634041, PMID:5511487, PMID:7654063, PMID:8016139, PMID:8470982, PMID:8622678, PMID:8854108, PMID:9012411, PMID:9177303, PMID:9849804, PMID:10072046, PMID:10631164, PMID:10894222, PMID:11241853, PMID:11781695, PMID:12205655, PMID:12736867, PMID:12827453, PMID:14520668, PMID:14595656, PMID:14684687, PMID:14735585, PMID:15576045, PMID:15637703, PMID:15922297, PMID:15954041, PMID:16337195, PMID:16380132, PMID:18524835, PMID:18674747, PMID:19555656, PMID:21457906, PMID:21504270, PMID:21838605, PMID:24088041, PMID:25741868, PMID:26633545, PMID:29987491, PMID:20019223 RGD:6482231 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:21907147, PMID:22499348, PMID:23499752, PMID:24088041, PMID:24123792, PMID:24461907, PMID:25058219, PMID:25288793, PMID:25741868, PMID:25911677, PMID:26060307, PMID:26633545, PMID:27290639, PMID:28058511, PMID:28492532, PMID:30311386 NCBI chr 8:70,952,209...70,986,393
Ensembl chr 8:70,952,203...70,986,408 		JBrowse link
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr 9:99,617,051...99,651,827
Ensembl chr 9:99,617,052...99,651,813 		JBrowse link
G Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr 7:35,125,516...35,163,182
Ensembl chr 7:35,125,424...35,167,406 		JBrowse link
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:10649489, PMID:16200211, PMID:16950771, PMID:18180188, PMID:19384974, PMID:20571988, PMID:20818383, PMID:22644603, PMID:25326635, PMID:25741868, PMID:26795593, PMID:28492532 NCBI chr 2:39,322,145...39,434,535
Ensembl chr 2:39,321,741...39,434,560 		JBrowse link
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr 3:133,232,412...133,261,932
Ensembl chr 3:133,232,432...133,261,973 		JBrowse link
G Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868, PMID:26741492 NCBI chr 5:24,297,169...24,320,804
Ensembl chr 5:24,297,094...24,320,786 		JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr 9:69,919,863...69,953,182
Ensembl chr 9:69,919,867...69,953,182 		JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO DNA:missense mutation:cds:p.M292T (human) RGD PMID:20819849 RGD:6482269 NCBI chr13:89,606,848...89,623,506
Ensembl chr13:89,606,840...89,619,398 		JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leigh syndrome		 CTD
ClinVar		 PMID:8602753, PMID:14729820, PMID:19167255, PMID:19336460, PMID:20818383, PMID:20819849, PMID:22114105, PMID:22499348, PMID:24028823, PMID:25978847, PMID:28031252, PMID:28492532 NCBI chr 3:79,721,686...79,728,863
Ensembl chr 3:79,721,694...79,728,879 		JBrowse link
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 ISO ClinVar Annotator: match by term: Leigh syndrome
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutation:cds:c.426delA (human)
DNA:transition:intron:IVS1-1G>A (human)		 ClinVar
CTD		 PMID:9463323, PMID:11112787, PMID:11181577, PMID:12616398, PMID:16213125, PMID:19107570, PMID:19364667, PMID:20818383, PMID:22326555, PMID:24020637, PMID:25741868, PMID:27079373, PMID:28492532, PMID:22535952, PMID:20534480, PMID:22653057, PMID:19107570, PMID:12616398 RGD:6484662, RGD:12914767, RGD:12914766, RGD:6484698, RGD:6484669 NCBI chr 2:46,372,488...46,476,162
Ensembl chr 2:46,372,518...46,476,203 		JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Leigh's disease		 ClinVar PMID:12468279, PMID:25741868, PMID:28492532 NCBI chr 7:12,318,776...12,326,403
Ensembl chr 7:12,318,757...12,326,392 		JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by OMIM:256000
ClinVar Annotator: match by term: Leigh syndrome		 ClinVar PMID:9837812, PMID:20818383, PMID:24595071, PMID:25326637, PMID:25741868, PMID:28492532 NCBI chr 1:219,141,289...219,144,610
Ensembl chr 1:219,141,292...219,144,610 		JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:24642831, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:219,254,293...219,259,328
Ensembl chr 1:219,254,279...219,259,448 		JBrowse link
G Parl presenilin associated, rhomboid-like ISS OMIM:220111 | OMIM:256000 MouseDO NCBI chr11:84,517,368...84,544,463
Ensembl chr11:84,517,368...84,544,462 		JBrowse link
G Sco1 synthesis of cytochrome C oxidase 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr10:53,595,854...53,608,437
Ensembl chr10:53,595,854...53,608,435 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO DNA:missense mutation:cds:p.R554W (human)
ClinVar Annotator: match by term: Leigh syndrome		 ClinVar
OMIM		 PMID:7550341, PMID:11423010, PMID:16195397, PMID:16798039, PMID:17298551, PMID:17376234, PMID:20484225, PMID:20489732, PMID:21505157, PMID:21752896, PMID:21858060, PMID:22677546, PMID:22904323, PMID:22955521, PMID:23174939, PMID:23252569, PMID:23612575, PMID:23666964, PMID:23730622, PMID:24033266, PMID:24448499, PMID:24781757, PMID:25494863, PMID:25720320, PMID:25741868, PMID:26113600, PMID:26173966, PMID:26259135, PMID:26269449, PMID:26490314, PMID:27011036, PMID:27493882, PMID:27895137, PMID:28384794, PMID:28492532, PMID:28500238, PMID:28546994, PMID:28724664, PMID:28819017, PMID:29177515, PMID:29872718, PMID:29978154, PMID:30050099, PMID:30068732, PMID:30201732, PMID:30311386, PMID:7550341 RGD:724604 NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISS OMIM:256000 MouseDO NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939 		JBrowse link
G Sod2 superoxide dismutase 2 ISS OMIM:220111 | OMIM:256000 MouseDO NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587 		JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Leigh's disease
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:9837813, PMID:10443880, PMID:10558868, PMID:10636738, PMID:10746561, PMID:11423010, PMID:12515039, PMID:14557577, PMID:16225813, PMID:16326995, PMID:16542579, PMID:16765830, PMID:18583168, PMID:19780766, PMID:20624914, PMID:20843780, PMID:22488715, PMID:23806086, PMID:23829769, PMID:24027061, PMID:24088041, PMID:24462369, PMID:25326637, PMID:25741868, PMID:26257172, PMID:26443249, PMID:26762927, PMID:27475922, PMID:27756633, PMID:27896082, PMID:28429146, PMID:28492532, PMID:29933018, PMID:9843204 RGD:1599193 NCBI chr 3:5,461,717...5,464,560
Ensembl chr 3:4,869,795...4,872,632 		JBrowse link
G Taco1 translational activator of cytochrome c oxidase I ISO CTD Direct Evidence: marker/mechanism CTD PMID:19503089 NCBI chr10:94,260,148...94,268,276
Ensembl chr10:94,260,197...94,268,222 		JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr 1:219,126,687...219,139,466
Ensembl chr 1:219,127,602...219,139,464 		JBrowse link
G Timmdc1 translocase of inner mitochondrial membrane domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr11:64,790,801...64,815,484
Ensembl chr11:64,790,801...64,815,477 		JBrowse link
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serac1 serine active site containing 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
ClinVar Annotator: match by OMIM:614739		 OMIM
ClinVar		 PMID:16527507, PMID:22683713, PMID:23707711, PMID:24033266, PMID:24997715, PMID:25016221, PMID:25741868, PMID:28482397, PMID:28492532, PMID:28778788, PMID:28916646, PMID:32313153 NCBI chr 1:46,934,499...46,978,264
Ensembl chr 1:46,942,192...46,978,261 		JBrowse link
French Canadian Leigh disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrpprc leucine-rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5
ClinVar Annotator: match by term: Cytochrome c oxidase deficiency, French Canadian type
ClinVar Annotator: match by term: Leigh syndrome, French Canadian type
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:220111		 OMIM
ClinVar
CTD		 PMID:12529507, PMID:15139850, PMID:17050673, PMID:18414213, PMID:20200222, PMID:21266382, PMID:21437181, PMID:22494076, PMID:24033266, PMID:25741868, PMID:26510951, PMID:26741492, PMID:27408822, PMID:27574110, PMID:28492532, PMID:29152527, PMID:30311386 NCBI chr 6:7,984,043...8,066,874
Ensembl chr 6:7,984,019...8,066,868 		JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16326995 NCBI chr 3:5,461,717...5,464,560
Ensembl chr 3:4,869,795...4,872,632 		JBrowse link
Leigh Syndrome Due To Mitochondrial Complex I Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO ClinVar Annotator: match by null ClinVar PMID:16738010 NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942 		JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Leigh syndrome due to mitochondrial complex I deficiency		 ClinVar PMID:9299505, PMID:10589546, PMID:11938446, PMID:12509858, PMID:12624137, PMID:12796552, PMID:14520659, PMID:14684687, PMID:14730434, PMID:15576045, PMID:15767514, PMID:16306525, PMID:16816025, PMID:17317336, PMID:17400793, PMID:18332249, PMID:25741868 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 ClinVar Annotator: match by term: Leigh syndrome due to mitochondrial complex I deficiency ClinVar PMID:7654063, PMID:8016139, PMID:8622678, PMID:10894222, PMID:12205655, PMID:14520668, PMID:14595656, PMID:14684687, PMID:14735585, PMID:15576045, PMID:16337195, PMID:16380132 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061 		JBrowse link
Leigh Syndrome due to Mitochondrial Complex III Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Leigh syndrome due to mitochondrial complex III deficiency ClinVar PMID:11528392, PMID:17314340, PMID:20518024, PMID:23892085, PMID:24655110, PMID:28492532, PMID:29090881 NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197 		JBrowse link
Leigh Syndrome, X-Linked term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: X-linked Leigh syndrome ClinVar PMID:7692352, PMID:8032855, PMID:8598634, PMID:23871722, PMID:25741868, PMID:28492532 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410 		JBrowse link
Lipoyltransferase 1 Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lipt1 lipoyltransferase 1 ISO ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency ClinVar
OMIM		 PMID:24256811, PMID:24341803, PMID:25326635, PMID:25741868 NCBI chr 9:44,466,627...44,471,986
Ensembl chr 9:44,466,627...44,471,986 		JBrowse link
G Mitd1 microtubule interacting and trafficking domain containing 1 ISO ClinVar Annotator: match by term: LIPOYLTRANSFERASE 1 DEFICIENCY
ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency		 ClinVar PMID:24256811, PMID:24341803, PMID:25326635, PMID:25741868 NCBI chr 9:44,472,364...44,483,723
Ensembl chr 9:44,472,365...44,560,837 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency ClinVar PMID:25637381, PMID:25741868, PMID:27879251, PMID:28492532, PMID:31042466 NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158 		JBrowse link
Maternally Inherited Leigh Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO DNA:point mutation: :m.9185T>C (human)
CTD Direct Evidence: marker/mechanism
DNA:point mutation: :m.9176T>C (human)
DNA:transversion: :m.8993T>G (human)		 CTD PMID:27129022, PMID:18461509, PMID:15709156, PMID:14598233 RGD:5490262, RGD:5490270, RGD:5490291 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:snps:cds:p.E59K, p.R159Q (human) RGD PMID:20301352 RGD:5148009 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Echs1 enoyl-CoA hydratase, short chain 1 ISO ClinVar Annotator: match by term: Mitochondrial short-chain enoyl-coa hydratase 1 deficiency OMIM
ClinVar		 PMID:25125611, PMID:25393721, PMID:25741868, PMID:26000322, PMID:26081110, PMID:26099313, PMID:26251176, PMID:26920905, PMID:26938784, PMID:27090768, PMID:27221955, PMID:27905109, PMID:28039521, PMID:28106320, PMID:28202214, PMID:28409271, PMID:28755360, PMID:29575569, PMID:31219693, PMID:32313153 NCBI chr 1:212,570,213...212,579,040
Ensembl chr 1:212,570,195...212,579,057 		JBrowse link
Subacute Necrotizing Encephalopathy of Leigh, Infantile term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:12215968, PMID:12910490, PMID:19389488, PMID:19508421, PMID:20518024, PMID:22277166, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197 		JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:20818383, PMID:22200994, PMID:23757202, PMID:24033266, PMID:25678554, PMID:28654958, PMID:30311386, PMID:30723688 NCBI chr 8:36,401,317...36,410,589
Ensembl chr 8:36,403,493...36,410,612 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:12468279, PMID:25741868 NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998 		JBrowse link
G Lrpprc leucine-rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:28492532 NCBI chr 6:7,984,043...8,066,874
Ensembl chr 6:7,984,019...8,066,868 		JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:19626676, PMID:22577227, PMID:25741868, PMID:30311386 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: Leigh's necrotizing encephalopathy ClinVar PMID:9806551, PMID:13298683 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868, PMID:32313153 NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689 		JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar 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 term: Leigh's necrotizing encephalopathy ClinVar PMID:9806551, PMID:10960495, PMID:13298683, PMID:24667782 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 ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:1550131, PMID:1674640, PMID:1732158, PMID:1734726, PMID:1900003, PMID:1928099, PMID:1959619, PMID:8496715, PMID:11854175, PMID:12205655, PMID:16738010, PMID:17620555 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:11456298, PMID:14684687, PMID:14705112, PMID:14764913, PMID:15372108, PMID:15576045, PMID:16023078, PMID:17152068, PMID:17413873, PMID:17535832, PMID:19458970, PMID:25741868 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:21907147, PMID:22499348, PMID:23499752, PMID:24088041, PMID:24123792, PMID:24461907, PMID:25058219, PMID:25288793, PMID:25741868, PMID:25911677, PMID:26060307, PMID:26633545, PMID:27290639, PMID:28058511, PMID:28492532, PMID:30311386 NCBI chr 8:70,952,209...70,986,393
Ensembl chr 8:70,952,203...70,986,408 		JBrowse link
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:10649489, PMID:16200211, PMID:16950771, PMID:18180188, PMID:19384974, PMID:20571988, PMID:20818383, PMID:22644603, PMID:25326635, PMID:25741868, PMID:26795593, PMID:28492532 NCBI chr 2:39,322,145...39,434,535
Ensembl chr 2:39,321,741...39,434,560 		JBrowse link
G Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868, PMID:26741492 NCBI chr 5:24,297,169...24,320,804
Ensembl chr 5:24,297,094...24,320,786 		JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 NCBI chr 9:69,919,863...69,953,182
Ensembl chr 9:69,919,867...69,953,182 		JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:28492532 NCBI chr 3:79,721,686...79,728,863
Ensembl chr 3:79,721,694...79,728,879 		JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:12468279, PMID:25741868 NCBI chr 7:12,318,776...12,326,403
Ensembl chr 7:12,318,757...12,326,392 		JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:9837812, PMID:25741868 NCBI chr 1:219,141,289...219,144,610
Ensembl chr 1:219,141,292...219,144,610 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:20484225, PMID:21505157, PMID:21752896, PMID:22955521, PMID:23174939, PMID:23252569, PMID:23612575, PMID:23666964, PMID:23730622, PMID:24448499, PMID:24781757, PMID:25494863, PMID:25741868, PMID:26113600, PMID:26173966, PMID:26259135, PMID:26269449, PMID:26490314, PMID:27895137, PMID:28384794, PMID:28492532, PMID:28500238, PMID:28819017, PMID:29872718, PMID:30068732, PMID:30311386 NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        mitochondrial metabolism disease 345
          Leigh disease 55
            3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1
            CoQ-Responsive OXPHOS Deficiency 0
            French Canadian Leigh disease 2
            Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency 0
            Leigh Syndrome Due To Mitochondrial Complex I Deficiency 3
            Leigh Syndrome due to Mitochondrial Complex II Deficiency 0
            Leigh Syndrome due to Mitochondrial Complex III Deficiency 1
            Leigh Syndrome due to Mitochondrial Complex IV Deficiency 0
            Leigh Syndrome due to Mitochondrial Complex V Deficiency 0
            Leigh Syndrome, X-Linked 1
            Lipoyltransferase 1 Deficiency 3
            MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY 1
            Maternally Inherited Leigh Syndrome 2
            Subacute Necrotizing Encephalomyelopathy of Leigh, Adult 0
            Subacute Necrotizing Encephalopathy of Leigh, Infantile 19
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            carbohydrate metabolic disorder 393
              Pyruvate Metabolism, Inborn Errors 76
                Leigh disease 55
                  3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1
                  CoQ-Responsive OXPHOS Deficiency 0
                  French Canadian Leigh disease 2
                  Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency 0
                  Leigh Syndrome Due To Mitochondrial Complex I Deficiency 3
                  Leigh Syndrome due to Mitochondrial Complex II Deficiency 0
                  Leigh Syndrome due to Mitochondrial Complex III Deficiency 1
                  Leigh Syndrome due to Mitochondrial Complex IV Deficiency 0
                  Leigh Syndrome due to Mitochondrial Complex V Deficiency 0
                  Leigh Syndrome, X-Linked 1
                  Lipoyltransferase 1 Deficiency 3
                  MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY 1
                  Maternally Inherited Leigh Syndrome 2
                  Subacute Necrotizing Encephalomyelopathy of Leigh, Adult 0
                  Subacute Necrotizing Encephalopathy of Leigh, Infantile 19
paths to the root

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