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Entry | Name | Description | Category | Pathway | Gene |
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H00068 |
Leber hereditary optic atrophy Leber optic atrophy |
Leber hereditary optic neuropathy (LHON) is a maternally transmitted inherited genetic disease underlying mutation of mitochondrial DNA (mtDNA). It is primarily an ophthalmological disorder, presenting ... | Nervous system disease |
ND1 [HSA:4535] [KO:K03878] ND2 [HSA:4536] [KO:K03879] ND4 [HSA:4538] [KO:K03881] ND4L [HSA:4539] [KO:K03882] ND5 [HSA:4540] [KO:K03883] ND6 [HSA:4541] [KO:K03884] CYTB [HSA:4519] [KO:K00412] COX1 [HSA:4512] [KO:K02256] COX3 [HSA:4514] [KO:K02262] ATP6 [HSA:4508] [KO:K02126] |
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H00473 | Mitochondrial complex I deficiency | Mitochondrial complex I deficiency, the most common mitochondrial disorders, is a group of highly heterogeneous conditions characterised by faulty oxidative phosphorylation (OXPHOS). Human complex I is ... | Inherited metabolic disorder, Mitochondrial disease |
(MC1DN1) NDUFS4 [HSA:4724] [KO:K03937] (MC1DN2) NDUFS8 [HSA:4728] [KO:K03941] (MC1DN3) NDUFS7 [HSA:374291] [KO:K03940] (MC1DN4) NDUFV1 [HSA:4723] [KO:K03942] (MC1DN5) NDUFS1 [HSA:4719] [KO:K03934] (MC1DN6) NDUFS2 [HSA:4720] [KO:K03935] (MC1DN7) NDUFV2 [HSA:4729] [KO:K03943] (MC1DN8) NDUFS3 [HSA:4722] [KO:K03936] (MC1DN9) NDUFS6 [HSA:4726] [KO:K03939] (MC1DN10) NDUFAF2 [HSA:91942] [KO:K18160] (MC1DN11) NDUFAF1 [HSA:51103] [KO:K18159] (MC1DN12) NDUFA1 [HSA:4694] [KO:K03945] (MC1DN13) NDUFA2 [HSA:4695] [KO:K03946] (MC1DN14) NDUFA11 [HSA:126328] [KO:K03956] (MC1DN15) NDUFAF4 [HSA:29078] [KO:K18161] (MC1DN16) NDUFAF5 [HSA:79133] [KO:K18162] (MC1DN17) NDUFAF6 [HSA:137682] [KO:K18163] (MC1DN18) NDUFAF3 [HSA:25915] [KO:K09008] (MC1DN19) FOXRED1 [HSA:55572] [KO:K18166] (MC1DN20) ACAD9 [HSA:28976] [KO:K15980] (MC1DN21) NUBPL [HSA:80224] [KO:K03593] (MC1DN22) NDUFA10 [HSA:4705] [KO:K03954] (MC1DN23) NDUFA12 [HSA:55967] [KO:K11352] (MC1DN24) NDUFB9 [HSA:4715] [KO:K03965] (MC1DN25) NDUFB3 [HSA:4709] [KO:K03959] (MC1DN26) NDUFA9 [HSA:4704] [KO:K03953] (MC1DN27) MTFMT [HSA:123263] [KO:K00604] (MC1DN28) NDUFA13 [HSA:51079] [KO:K11353] (MC1DN29) TMEM126B [HSA:55863] [KO:K18165] (MC1DN30) NDUFB11 [HSA:54539] [KO:K11351] (MC1DN31) TIMMDC1 [HSA:51300] [KO:K23505] (MC1DN32) NDUFB8 [HSA:4714] [KO:K03964] (MC1DN33) NDUFA6 [HSA:4700] [KO:K03950] (MC1DN34) NDUFAF8 [HSA:284184] [KO:K24726] (MC1DN35) NDUFB10 [HSA:4716] [KO:K03966] (MC1DN36) NDUFC2 [HSA:4718] [KO:K03968] (MC1DN37) NDUFA8 [HSA:4702] [KO:K03952] (MC1DN39) NDUFB7 [HSA:4713] [KO:K03963] ND1 [HSA:4535] [KO:K03878] ND2 [HSA:4536] [KO:K03879] ND3 [HSA:4537] [KO:K03880] ND4 [HSA:4538] [KO:K03881] ND4L [HSA:4539] [KO:K03882] ND5 [HSA:4540] [KO:K03883] ND6 [HSA:4541] [KO:K03884] |
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H00856 | Distal hereditary motor neuropathies | Distal hereditary motor neuropathies (dHMN) comprise a heterogenous group of diseases that share the common feature of a length-dependent predominantly motor neuropathy. Many forms of dHMN have minor sensory ... | Nervous system disease |
(HMND2) HSPB8 [HSA:26353] [KO:K08879] (HMND3) HSPB1 [HSA:3315] [KO:K04455] (HMND4) HSPB3 [HSA:8988] [KO:K09544] (HMND5) GARS1 [HSA:2617] [KO:K01880] (HMND6) FBXO38 [HSA:81545] [KO:K10313] (HMND7) SLC5A7 [HSA:60482] [KO:K14387] (HMND8) TRPV4 [HSA:59341] [KO:K04973] (HMND9) WARS1 [HSA:7453] [KO:K01867] (HMND10) EMILIN1 [HSA:11117] [KO:K24246] (HMND11) SPTAN1 [HSA:6709] [KO:K06114] (HMND12/HMNR6) REEP1 [HSA:65055] [KO:K17338] (HMND13) BSCL2 [HSA:26580] [KO:K19365] (HMND14) DCTN1 [HSA:1639] [KO:K04648] (HMNR1) IGHMBP2 [HSA:3508] [KO:K19036] (HMNR2) SIGMAR1 [HSA:10280] [KO:K20719] (HMNR4) PLEKHG5 [HSA:57449] [KO:K19464] (HMNR5) DNAJB2 [HSA:3300] [KO:K09508] (HMNR7) VWA1 [HSA:64856] [KO:K24507] (HMNR8) SORD [HSA:6652] [KO:K00008] (HMNR9) COQ7 [HSA:10229] [KO:K06134] (HMNR10) VRK1 [HSA:7443] [KO:K08816] (HMNX) ATP7A [HSA:538] [KO:K17686] |
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H01347 |
MELAS syndrome Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, Stroke-like episodes |
MELAS syndrome (Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes) is a maternally inherited multisystem mitochondrial disorder. This disease is associated with mutations in mitochondrial ... | Inherited metabolic disorder, Mitochondrial disease |
(MTTL1) TRNL1 [HSA:4567] [KO:K14228] (MTTQ) TRNQ [HSA:4572] [KO:K14223] (MTTH) TRNH [HSA:4564] [KO:K14226] (MTTK) TRNK [HSA:4566] [KO:K14229] (MTTC) TRNC [HSA:4511] [KO:K14222] (MTTS1) TRNS1 [HSA:4574] [KO:K14233] (MTTS2) TRNS2 [HSA:4575] [KO:K14233] (MTTF) TRNF [HSA:4558] [KO:K14231] (MTTV) TRNV [HSA:4577] [KO:K14237] (MTTW) TRNW [HSA:4578] [KO:K14235] (MTND1) ND1 [HSA:4535] [KO:K03878] (MTND5) ND5 [HSA:4540] [KO:K03883] (MTND6) ND6 [HSA:4541] [KO:K03884] (MTCYB) CYTB [HSA:4519] [KO:K00412] |
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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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