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Entry | Name | Description | Category | Pathway | Gene |
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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] |
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H01390 |
Mitochondrial neurogastrointestinal encephalomyopathy MNGIE Syndrome |
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive neurodegenerative disorder associated with thymidine phosphorylase deficiency resulting in high levels of plasma thymidine ... | Inherited metabolic disorder, Mitochondrial disease |
TYMP [HSA:1890] [KO:K00758] RRM2B [HSA:50484] [KO:K10808] POLG [HSA:5428] [KO:K02332] LIG3 [HSA:3980] [KO:K10776] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |