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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01355 | Kearns-Sayre syndrome | Kearns-Sayre Syndrome is a multisystem disorder characterized by ophthalmoplegia, pigmentary retinopathy, heart block, and cerebellar ataxia. This disease is caused by various large-scale deletions of ... | Inherited metabolic disorder |
MT-ATP6 [HSA:4508] [KO:K02126] MT-ATP8 [HSA:4509] [KO:K02125] MT-CO3 [HSA:4514] [KO:K02262] MT-CYB [HSA:4519] [KO:K00412] MT-ND3 [HSA:4537] [KO:K03880] MT-ND4 [HSA:4538] [KO:K03881] MT-ND4L [HSA:4539] [KO:K03882] MT-ND5 [HSA:4540] [KO:K03883] MT-ND6 [HSA:4541] [KO:K03884] |
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| H01365 | Leber hereditary optic neuropathy and dystonia | Leber hereditary optic neuropathy and dystonia (LDYT) is a maternally-inherited mitochondrial disorder characterized by variable combinations of visual loss and progressive generalized dystonia. LDYT is ... | Inherited metabolic disorder |
MT-ND6 [HSA:4541] [KO:K03884] MT-ND4 [HSA:4538] [KO:K03881] MT-ND1 [HSA:4535] [KO:K03878] MT-ND3 [HSA:4537] [KO:K03880] |
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