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Entry Name Description Category Pathway Gene
H00469 Mitochondrial DNA depletion syndrome Mitochondrial DNA depletion syndromes (MDSs) are a group of heterogeneous autosomal recessive disorders associated with a severe reduction in mitochondrial DNA in the affected tissues. The manifestations ... Inherited metabolic disorder, Mitochondrial disease (MTDPS1) TYMP [HSA:1890] [KO:K00758]
(MTDPS2) TK2 [HSA:7084] [KO:K00857]
(MTDPS3) DGUOK [HSA:1716] [KO:K00904]
(MTDPS4A/4B) POLG [HSA:5428] [KO:K02332]
(MTDPS5) SUCLA2 [HSA:8803] [KO:K01900]
(MTDPS6) MPV17 [HSA:4358] [KO:K13348]
(MTDPS7) TWNK [HSA:56652] [KO:K17680]
(MTDPS8A/8B) RRM2B [HSA:50484] [KO:K10808]
(MTDPS9) SUCLG1 [HSA:8802] [KO:K01899]
(MTDPS10) AGK [HSA:55750] [KO:K09881]
(MTDPS11) MGME1 [HSA:92667] [KO:K19465]
(MTDPS12A/12B) SLC25A4 [HSA:291] [KO:K05863]
(MTDPS13) FBXL4 [HSA:26235] [KO:K10270]
(MTDPS14) OPA1 [HSA:4976] [KO:K17079]
(MTDPS15) TFAM [HSA:7019] [KO:K11830]
(MTDPS16/16B) POLG2 [HSA:11232] [KO:K02333]
(MTDPS17) MRM2 [HSA:29960] [KO:K02427]
(MTDPS18) SLC25A21 [HSA:89874] [KO:K15110]
(MTDPS19) SLC25A10 [HSA:1468] [KO:K13577]
(MTDPS20) LIG3 [HSA:3980] [KO:K10776]
H01118 Progressive external ophthalmoplegia
Autosomal dominant progressive external ophthalmoplegia 		Progressive external ophthalmoplegia (PEO) is a progressive weakness of the external muscles of the eye resulting in blepharoptosis and ophthalmoparesis. Often other muscles are involved resulting in dysphagia ... Nervous system disease (PEOA1) POLG [HSA:5428] [KO:K02332]
(PEOA2) SLC25A4 [HSA:291] [KO:K05863]
(PEOA3) TWNK [HSA:56652] [KO:K17680]
(PEOA4) POLG2 [HSA:11232] [KO:K02333]
(PEOA5) RRM2B [HSA:50484] [KO:K10808]
(PEOA6) DNA2 [HSA:1763] [KO:K10742]
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