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:0009723
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
10767350 12928484 15455402 14607829 17715058 2167310 24100867 25613900
ClinVar, ClinGen, GWAS catalog
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
LIPT1 Unknown
24256811 24341803 25613900 27977873 28803783 29681092 31042466
ClinGen
LONP1 Unknown
18853439 29518248 32521756
ClinGen, GWAS catalog —
LRPPRC Unknown
12529507 18853439 21266382 22045337 25428350 25835550 26510951 27977873
ClinGen, GWAS catalog
MECR Unknown
25613900 27817865 27977873 30266742
ClinGen, Disgenet
MFF Unknown
25613900 26783368 27977873 30581454 32181496
ClinGen, Disgenet —
MORC2 Unknown
25613900 30624633
ClinGen, GWAS catalog
MTRFR Unknown
18853439 20598281 22821833 24284555 25995486 26380172 27858754 27977873
ClinGen, Disgenet —
NARS2 Unknown
25807530 29980628
ClinGen, Disgenet
NAXE Unknown
25613900 27616477 32020600
ClinGen, Orphanet
NDUFA1 Unknown
10200266 14722084 15293270 17262856 25356405 25356970 28429146 28506826 29506883 8938439
CTD, ClinGen, ClinVar
NDUFA10 Unknown
21150889 22200994 27509854 27626371 28247337
CTD, ClinGen, ClinVar
NDUFA12 Unknown
21617257 24717771 27509854
ClinGen, GWAS catalog
NDUFA13 Unknown
15367666 25901006 27509854 32722639
ClinGen, ClinVar
NDUFA2 Unknown
17209039 18513682 18826940 21556144 22822087 27159321 27626371 28857146 9878551
ClinGen, Disgenet
NDUFA3 Unknown
39661167
GenCC
NDUFA4 Unknown — ClinGen
NDUFA9 Unknown
22114105 23223238 25613900 27509854 28671271
ClinGen, Disgenet
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 WITH CARDIOMYOPATHY
MONDO:0019083
NDUFS2 Unknown
22036843
GenCC
SURF1 Unknown
23829769
GenCC
LEIGH SYNDROME WITH LEUKODYSTROPHY
MONDO:0016815
COXFA4 Unknown
23746447
CTD —
ECHS1 Unknown
25393721
GWAS catalog, ClinGen
LIPT1 Unknown
24341803
ClinGen
NDUFA10 Unknown
21150889 22644603
GWAS catalog, ClinGen
NDUFA12 Unknown
21617257 22644603
GWAS catalog, ClinGen
NDUFA13 Unknown
25901006
GWAS catalog, ClinGen
NDUFA2 Unknown
18513682 22644603
CTD, ClinGen
NDUFA9 Unknown
22114105
GWAS catalog, ClinGen
NDUFS2 Unknown
23266820
GWAS catalog, ClinGen
NDUFS3 Unknown
14729820 22644603
Disgenet, ClinGen
NDUFS4 Unknown
19107570 19364667 22644603
HPO, 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.