Leigh syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
LEIGH DISEASE
C0023264MESH:D007888
ECHS1 Unknown
25125611 26099313
CTD, Disgenet
IARS2 Unknown — Disgenet
LRPPRC Unknown — Disgenet
ND3 Unknown
25118196 10746566 24781757 18828154 7550341 17152068 12796552 14595656 17400793 26095671 11938446 16996290 8395787 9556461 9270604 9501263 17352390
Disgenet
ND5 Unknown — Disgenet
ND6 Unknown — Disgenet
NDUFS2 Unknown — Disgenet
NDUFS3 Unknown
14729820
CTD, Disgenet
NDUFS4 Unknown
11181577
CTD, Disgenet
SDHA Unknown — Disgenet
SURF1 Unknown
16765830
CTD, Disgenet
TACO1 Unknown
19503089
CTD, Disgenet
LEIGH SYNDROME
MONDO:0009723506
BCS1L Causal
10508156 11528392 19162478 21274865 25613900 28427446 19508421 12215968 17403714
ClinGen, GWAS catalog, ClinVar —
COX15 Causal
11788607 12474143 15235026 21723506 25613900 26039449
ClinGen, GWAS catalog
ECHS1 Causal
25125611 25393721 25613900 26000322 26099313 26251176 27977873 28409271 28755360 29575569
ClinGen, GWAS catalog
FARS2 Causal
22499341 22833457 26553276 27095821 27549011 27977873 29126765
ClinGen, GWAS catalog
FBXL4 Causal
23993193 23993194 25613900 25868664 27977873 31969900
ClinGen, GWAS catalog
FOXRED1 Causal — ClinGen, GenCC —
IARS2 Causal
25130867 25613900 29980628 30041933 39169373
CTD, ClinGen, Orphanet
MRPS34 Causal
25613900 25816300 28777931
CTD, ClinGen
MTFMT Causal
21907147 23499752 24461907 29980628 30087118 30911575
ClinVar, ClinGen, HPO
NDUFAF2 Causal
16200211 18180188 19384974 20571988 20818383 23702311 25613900
ClinGen, GWAS catalog, ClinVar
NDUFAF5 Causal
18940309 19542079 21607760 23536703 25613900 29581464 30473481
ClinGen, GWAS catalog
NDUFAF6 Causal
18614015 22019594 25613900 26741492 27623250 28639102 29531337 30642748 31967322 32020600
ClinGen, Orphanet
NDUFS1 Causal — ClinGen, GenCC, ClinVar
NDUFS4 Causal — ClinGen, GenCC, ClinVar
NDUFS7 Causal
10360771 15269216 17604671 22644603 27509854 30429455 30972103
ClinGen, Disgenet, ClinVar
NDUFS8 Causal
15159508 19672299 20818383 21924235 22200994 23430795 27509854 29285794 9837812
ClinGen, HPO, ClinVar
NDUFV1 Causal
11349233 19672299 21696386 23266820 23334465 27344648 27509854 29976978 30090137 30972103
ClinVar, ClinGen, GWAS catalog
SDHA Causal — ClinVar, ClinGen, GenCC
SURF1 Causal
10443880 10556302 22488715 25164807 27756633 29601977 29933018 9837813 9843204
ClinGen, Disgenet, ClinVar
TPK1 Causal
18853439 22152682 25458521 27896076 30483896 30789823 31095747 31127358 31288420
CTD, ClinGen
VPS13D Causal
20301423 29307555 29518281 29604224
CTD, ClinGen —
ADAR Unknown
11099415 25613900 26275108 27977873 30692772 31772029
CTD, ClinGen
AIFM1 Unknown
15526035 18309327 18791645 20362274 22019070 25934856 28299359 29531799 29780003
ClinGen, GWAS catalog
ATP5MK Unknown
18853439 21345788 29917077 30240627 31127358
ClinGen, GWAS catalog —
BTD Unknown
18645204 21051254 21907891 25613900 27977873
ClinGen, GWAS catalog
CLPB Unknown
25597510 25597511 25650066 31917998
CTD, ClinGen
COQ9 Unknown
19375058 20495179 23255162 25613900 25802402 26081641 29560582
ClinGen, Orphanet —
COX10 Unknown
12928484 14607829 15455402 17715058 2167310 24100867 25613900 10767350
ClinGen, GWAS catalog, ClinVar
COX4I1 Unknown
18853439 28593021 31127358 31290619
ClinGen, GWAS catalog
COX8A Unknown
25613900 26685157 27977873
ClinGen, GWAS catalog
COXFA4 Unknown
23746447 25613900 27977873
HPO —
DLAT Unknown
15070761 16049940 20022530 25613900 27977873 30407599
ClinGen, Disgenet
DLD Unknown
11687750 12925875 16770810 21930696 23290025 25613900 27144126 8506365 8968745 9405644
ClinGen, GWAS catalog
DNM1L Unknown
18853439 27301544 30361041
ClinGen, ClinVar
EARS2 Unknown
22492562 27117034 27206875 27571996 29980628
ClinGen, Disgenet
ETHE1 Unknown
16376514 18593870 19136963 20528888 20978941 25613900 25878756 26917598 27830356 28753212
CTD, ClinGen
GFM1 Unknown
17160893 18853439 21364917 23430926 25852744 27977873
ClinGen, GWAS catalog
GFM2 Unknown
19716793 22700954 26016410 29075935
ClinGen, Disgenet
GTPBP3 Unknown
25434004 27184967 28732077 29390138 30459337 30916346
ClinGen, GWAS catalog —
HIBCH Unknown
17160907 24299452 25251209 25591832 25613900 26163321 27400804 27977873 31127358 31523596 32022391 32677093
ClinGen, GWAS catalog
HPDL Unknown
18853439 32707086 33188300 33970200
ClinGen, Orphanet —
KGD4 Unknown — GenCC —
LIAS Unknown
11389890 16135825 24334290 25613900 26108146 28817111
ClinGen, Orphanet
LRPPRC Unknown
12529507 18853439 21266382 22045337 25428350 25835550 26510951 27977873
ClinGen, GWAS catalog
NDUFS2 Unknown
11220739 14749350 20819849 22036843 23266820 25613900 27509854 29526616 31297047
ClinGen, GenCC
NDUFS3 Unknown
14729820 17267560 18485875 18826940 22200994 22653752 23519235 28683319 30140060 9878551
CTD, ClinGen, ClinVar
TACO1 Unknown
19503089 25044680 27319982
ClinGen, GWAS catalog
LEIGH SYNDROME , FRENCH CANADIAN TYPE
C1857355MESH:C537004
LRPPRC Unknown
12529507
CTD, Disgenet, ClinGen
SURF1 Unknown
16326995
CTD, Disgenet
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
C1838951
ND5 Unknown
26095671 9501263 9270604 12796552 17152068 25118196 17352390 11938446 18828154 17400793 14595656 9556461 16996290 8395787 10746566 7550341 24781757
Disgenet
ND6 Unknown
7550341 10746566 8395787 11938446 26095671 17152068 18828154 17400793 14595656 9556461 24781757 25118196 12796552 9270604 17352390 16996290 9501263
Disgenet
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY
C1850599
SURF1 Causal — Disgenet
LEIGH SYNDROME WITH CARDIOMYOPATHY
MONDO:0019083
NDUFS2 Unknown
22036843
GenCC
SURF1 Unknown
23829769
GenCC
LEIGH SYNDROME WITH LEUKODYSTROPHY
MONDO:0016815
COX15 Unknown
15235026 15863660
GWAS catalog, ClinGen
COXFA4 Unknown
23746447
CTD —
ECHS1 Unknown
25393721
GWAS catalog, ClinGen
FOXRED1 Unknown
20818383 22644603
GWAS catalog, ClinGen —
MTFMT Unknown
22499348 23499752 24461907
Disgenet, ClinGen
NDUFAF2 Unknown
20818383 22644603
Disgenet, ClinGen
NDUFAF5 Unknown
19542079 22644603
GWAS catalog, ClinGen
NDUFAF6 Unknown
18614015 22644603
GenCC, ClinGen
NDUFS1 Unknown
15824269 22644603
Disgenet, ClinGen
NDUFS2 Unknown
23266820
GWAS catalog, ClinGen
NDUFS3 Unknown
14729820 22644603
Disgenet, ClinGen
NDUFS4 Unknown
19107570 19364667 22644603
HPO, ClinGen
NDUFS7 Unknown
17275378 17604671 22644603
GWAS catalog, ClinGen
NDUFS8 Unknown
15159508 22499348 22644603
Disgenet, ClinGen
NDUFV1 Unknown
21696386 22644603 23266820
GWAS catalog, ClinGen
SDHA Unknown
16361598 24781757
Orphanet, ClinGen
SURF1 Unknown
23829769
GWAS catalog, ClinGen
TACO1 Unknown
19503089 20727754 25044680
Disgenet, ClinGen
All107 Causal21 Unknown101
Related Diseases Diseases that share the most curated genes with Leigh syndrome.
5 View disease cluster →
Mitochondrial complex deficiency 48 shared genesNDUFA10, NDUFA12, NDUFA9, NDUFAF2, NDUFAF6, ND2, NDUFS3, NDUFS2, TTC19, LRPPRC, NDUFA2, TIMMDC1 +36 more Related via 48 shared genes including NDUFA10, NDUFA12, NDUFA9. Mitochondrial disease 72 shared genesHIBCH, TRMU, IARS2, MTRFR, NARS2, NDUFA10, NDUFA12, NDUFA9, NDUFAF2, NDUFAF6, ND2, NDUFS3 +60 more Related via 72 shared genes including HIBCH, TRMU, IARS2. Mitochondrial encephalomyopathy 11 shared genesMTRFR, FARS2, NDUFS2, POLG, DNM1L, SCO2, NDUFV2, LONP1, FBXL4, FOXRED1, MFF Related via 11 shared genes including MTRFR, FARS2, NDUFS2. Cytochrome c oxidase deficiency 11 shared genesLRPPRC, SCO2, SCO1, COX15, SURF1, PET100, COX10, TACO1, COX4I1, COX8A, PET117 Related via 11 shared genes including LRPPRC, SCO2, SCO1. Combined oxidative phosphorylation deficiency 14 shared genesMTRFR, NARS2, PNPT1, EARS2, FARS2, AIFM1, TSFM, MTFMT, TARS2, GTPBP3, GFM2, GFM1 +2 more Related via 14 shared genes including MTRFR, NARS2, PNPT1.