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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] | |
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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