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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00820 | Bjornstad syndrome | ... recessive combination of congenital sensorineural hearing loss and pili torti. It is caused by mutations in BCS1L encoding a protein that is necessary for the assembly of complex III in the mitochondria. | Inherited metabolic disorder | BCS1L [HSA:617] [KO:K08900] | |
| H01354 | Leigh syndrome | Leigh syndrome is a severe neurological disorder, characterized by bilaterally symmetrical necrotic lesions in the basal ganglia and brainstem. Most frequently the central nervous system is affected, with ... | Inherited metabolic disorder, Mitochondrial disease |
NDUFS3 [HSA:4722] [KO:K03936] NDUFS4 [HSA:4724] [KO:K03937] NDUFS7 [HSA:374291] [KO:K03940] NDUFS8 [HSA:4728] [KO:K03941] NDUFA2 [HSA:4695] [KO:K03946] NDUFA9 [HSA:4704] [KO:K03953] NDUFA10 [HSA:4705] [KO:K03954] NDUFA12 [HSA:55967] [KO:K11352] NDUFAF2 [HSA:91942] [KO:K18160] NDUFAF6 [HSA:137682] [KO:K18163] FOXRED1 [HSA:55572] [KO:K18166] SDHA [HSA:6389] [KO:K00234] COX10 [HSA:1352] [KO:K02257] COX15 [HSA:1355] [KO:K02259] SURF1 [HSA:6834] [KO:K14998] BCS1L [HSA:617] [KO:K08900] TACO1 [HSA:51204] [KO:K18189] (LSFC) LRPPRC [HSA:10128] [KO:K17964] |
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| H02007 |
GRACILE syndrome Fellman syndrome Finnish lethal neonatal metabolic syndrome |
... been described mostly in newborn infants with parents of Finnish origin. It is caused by mutations in BCS1L. The BCS1L gene encodes a chaperone responsible for assembly of mitochondrial respiratory chain ... | Inherited metabolic disorder, Mitochondrial disease | BCS1L [HSA:617] [KO:K08900] | |
| H02086 | Mitochondrial complex III deficiency | ... nine genes have been known to cause CIII deficiency. CYC1, UQCRB, UQCRQ, and UQCRC2 encode components of CIII itself, whereas BCS1L, TTC19, LYRM7, UQCC2, and UQCC3 produce mitochondrial assembly factors. | Inherited metabolic disorder, Mitochondrial disease |
(MC3DN1) BCS1L [HSA:617] [KO:K08900] (MC3DN2) TTC19 [HSA:54902] [KO:K18169] (MC3DN3) UQCRB [HSA:7381] [KO:K00417] (MC3DN4) UQCRQ [HSA:27089] [KO:K00418] (MC3DN5) UQCRC2 [HSA:7385] [KO:K00415] (MC3DN6) CYC1 [HSA:1537] [KO:K00413] (MC3DN7) UQCC2 [HSA:84300] [KO:K17682] (MC3DN8) LYRM7 [HSA:90624] [KO:K18170] (MC3DN9) UQCC3 [HSA:790955] [KO:K23165] (MC3DN10) UQCRFS1 [HSA:7386] [KO:K00411] (MC3DN11) UQCRH [HSA:7388] [KO:K00416] |
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