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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]
H01395 Autosomal recessive progressive external ophthalmoplegia ... cause the autosomal dominant PEO (PEOA). Conversely, the autosomal recessive PEO (PEOB) has only been associated with mutations in POLG1. Recently, mutations in RNASEH1, TK2, and DGUOK has been identified. Nervous system disease (PEOB1) POLG [HSA:5428] [KO:K02332]
(PEOB2) RNASEH1 [HSA:246243] [KO:K03469]
(PEOB3) TK2 [HSA:7084] [KO:K00857]
(PEOB4) DGUOK [HSA:1716] [KO:K00904]
(PEOB5) TOP3A [HSA:7156] [KO:K03165]
(PEOB6) RRM1 [HSA:6240] [KO:K10807]
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