Human diseases associated with defects in assembly of OXPHOS complexes

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Term Occurence Count Dictionary
obesity 1 endocrinologydiseases
Fanconi syndrome 2 endocrinologydiseases
hypoglycemia 2 endocrinologydiseases
lactic acidosis 20 endocrinologydiseases
leukodystrophy 6 endocrinologydiseases
mitochondrial disease 6 endocrinologydiseases
mitochondrial encephalomyopathy 1 endocrinologydiseases

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Select Drug Character Offset Drug Term Instance
Select Disease Character Offset Disease Term Instance
Fanconi syndrome 6632 spasticityNDUFAF6612392Probable role in the assembly/stability of the Q moduleLeigh syndrome; Acadian variant of Fanconi syndrome NDUFAF7615898Methyltransferase of NDUFS2; stabilizer of early intermediate(s)Pathologic myopiaACAD9611103CI
Fanconi syndrome 17407 (rs575462405) located in intron 2 of NDUFAF6 was found in nine patients with the Acadian variant of Fanconi syndrome . This variant impairs NDUFAF6 splicing and affected kidney and lung showed specific loss of the mitochondria-located
hypoglycemia 8178 seizuresUQCC3616097Cardiolipin-binding protein; stabilizer of CIII and CIII supercomplexesLactic acidosis, hypoglycemia , hypotonia, and delayed developmentCIV assembly factorsSURF1185620Formation of the early MTCO1 subcomplexesLeigh
hypoglycemia 28478 UQCC3 was identified in a patient diagnosed with isolated CIII deficiency, displaying lactic acidosis, hypoglycemia , hypotonia, and delayed development without dysmorphic features [[86]]. UQCC3 was shown to be a cardiolipin-binding
lactic acidosis 5939 chaperone; transient interaction with early arm membrane intermediates (ND2 module)Cardiomyoencephalopathy, lactic acidosis ; leukodystrophy, neuropathyNDUFAF2609653Stabilizer of late intermediate (N module)Leukoencephalopathy
lactic acidosis 6867 assembler by the interaction with NDUFAF1, ECSIT and TMEM126B (MCIA)Cardiomyopathy, encephalopathy, lactic acidosis , exercise intoleranceFOXRED1613622Mid-late stages of CI assembly (ND4 module)Leigh syndrome; microcephaly
lactic acidosis 9923 factorsATPAF2608918F1 chaperone; essential for assembly of α + β heterooligomerDegenerative encephalopathy, connatal lactic acidosis , methyl glutaconic aciduriaTMEM70612418Assembly of F1; structure of cristaeNeonatal encephalocardiomyopathyFe–S
lactic acidosis 12185 oxidoreductase-containing domain 1; GRACILE, growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis , early death; MIDAS, microphthalmia, dermal aplasia and sclerocornea; MMDS, multiple mitochondrial dysfunctions
lactic acidosis 14454 are highly heterogeneous, including, for children, Leigh syndrome (LS), neonatal cardiomyopathy with lactic acidosis , fatal infantile lactic acidosis (FILA), macrocystic leukoencephalopathy, or isolated myopathy [[13],[14]].
lactic acidosis 14487 including, for children, Leigh syndrome (LS), neonatal cardiomyopathy with lactic acidosis, fatal infantile lactic acidosis (FILA), macrocystic leukoencephalopathy, or isolated myopathy [[13],[14]]. Similar to other CI defective
lactic acidosis 14987 [[16]]. Mutations in NDUFAF1 were reported in two unrelated patients with cardiomyoencephalopathy, lactic acidosis , and reduced levels of CI [[15],[17]]. Both patients developed hypertrophic cardiomyopathy in infancy
lactic acidosis 17978 ACAD9 are quite frequent and associated with infantile hypertrophic cardiomyopathy, encephalopathy, and lactic acidosis [[35]]. All patients had a reduction in CI enzymatic activity and assembly. Severe neonatal presentations
lactic acidosis 18745 usually mildly affected, with childhood onset cardiomyopathy [[42]] or lifetime exercise intolerance and lactic acidosis [[40],[43]].ACAD9 displays a β-oxidative activity in vitro but fatty acid β-oxidation has been reported
lactic acidosis 25249 mutations. The acronym GRACILE stands for growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death, and designates an infantile condition caused by a specific BCS1L mutation, S78G, which
lactic acidosis 26678 Leigh-like syndrome. Decreased cIII activity was present in almost all patients reported to date, while lactic acidosis seems not to be a reliable biomarker [[78]]. Notably, most of the TTC19 mutations are nonsense or frameshift
lactic acidosis 27603 truncating, mutation in LYRM7 was found in a child with complex III defect and acute liver dysfunction with lactic acidosis [[83]], a phenotype resembling BCS1L patients.QCC2 (MIM 614461)A homozygous splice site mutation in
lactic acidosis 27759 patients.QCC2 (MIM 614461)A homozygous splice site mutation in UQCC2 was first described in a boy with lactic acidosis , mild dysmorphic features, delayed neurological development and sensorineural hearing impairment. This
lactic acidosis 28461 missense mutation in UQCC3 was identified in a patient diagnosed with isolated CIII deficiency, displaying lactic acidosis , hypoglycemia, hypotonia, and delayed development without dysmorphic features [[86]]. UQCC3 was shown
lactic acidosis 32997 skeletal muscle [[99]].COX14/c12orf62 (MIM 614478)By investigating three siblings with severe congenital lactic acidosis and dysmorphic features associated with a COX-assembly defect, a homozygous mutation in C12ORF62 (now
lactic acidosis 34527 CIV activity and amount of the holoenzyme [[105]]. A nonsense PET100 mutation caused fatal infantile lactic acidosis , again associated with isolated CIV deficiency [[106]].PET117 (MIM 614771)PET117 is a small protein
lactic acidosis 37682 genes mutations is often characterized by neonatal-onset hypotonia and hypertrophic cardiomyopathy; lactic acidosis and 3-methylglutaconic aciduria are typical biochemical hallmarks of these diseases. Few disease-causing
lactic acidosis 38345 rare phenotypes associated with MTATP6 mutations have been reported, including mitochondrial myopathy, lactic acidosis , and sideroblastic anemia (MLASA) [[127]]; adult-onset spinocerebellar ataxia [[128]]; motor neurone
lactic acidosis 39726 associated with short stature, microcephaly, and facial dysmorphism. Typical biochemical findings are lactic acidosis , 3-methylglutaconic aciduria, and hyperammonaemia. The outcome of this multisystem disease depends mainly
lactic acidosis 40970 referred to a homozygous missense ATPAF2 mutation associated with degenerative encephalopathy, connatal lactic acidosis , and methyl-glutaconic aciduria [[142]]. The amount of fully assembled CV was low, but no subassembly
leukodystrophy 5956 interaction with early arm membrane intermediates (ND2 module)Cardiomyoencephalopathy, lactic acidosis; leukodystrophy , neuropathyNDUFAF2609653Stabilizer of late intermediate (N module)Leukoencephalopathy with vanishing
leukodystrophy 10987 hypotonia, multisystem organ failureNFU1608100Scaffold protein for [4Fe–4S] cluster synthesisHypotonia, leukodystrophy , epilepsy (MMDS1)NUBPL613621Facilitates the assembly of Fe–S cofactors and subunits in CILeukodystrophy,
leukodystrophy 15188 cardiomyopathy in infancy after a viral illness. More recently, NDUFAF1 mutations were found in a child with leukodystrophy , peripheral neuropathy, and CI deficiency [[18]].NDUFAF2 (MIM 609653)A stop mutation of NDUFAF2 (B17.2L
leukodystrophy 21351 clinical and neuropathological presentation; additional phenotypes include myopathy, encephalopathy, leukodystrophy , and isolated cardiomyopathy. The pathogenesis of CII-associated paragangliomas/pheochromocytomas remains
leukodystrophy 32769 onset, progressive severe ataxia and peripheral neuropathy, mild cognitive impairment and a cavitating leukodystrophy of the brain. Biochemical analysis revealed the presence of isolated CIV deficiency in skin fibroblasts
leukodystrophy 35276 [[109]]. APOPT1 mutations were identified in patients with brain MRI pattern characterized by cavitating leukodystrophy . The clinical features of the mutant subjects varied widely from acute neurometabolic decompensation
mitochondrial disease 4854 [[5],[6]]. Because OXPHOS is necessary for energy supply to virtually any cell, any organ can be affected by mitochondrial disease . However, the most common clinical presentations include the involvement of muscle, heart and brain,
mitochondrial disease 5714 particular gene product.Table 1Assembly factors of the OXPHOS with their (predicted) functions and related mitochondrial disease Gene/proteinOMIM(Predicted) function(s)*Associated phenotypesCI assembly factorsNDUFAF1606934CI chaperone;
mitochondrial disease 21811 subunits or assembly factors have been described (SDHA, SDHB, SDHD, and SDH assembly factor 1 (SDHAF1) for mitochondrial disease s; SDHD, SDHC, SDHB, SDHA, and SDHAF2 for hereditary paragangliomas). Defects in several factors involved
mitochondrial disease 29208 220110)Together with defects of CI, CIV (or COX) deficiencies are quite common biochemical hallmarks of mitochondrial disease . In infancy, the most frequent manifestation of isolated and severe COX deficiency is LS, but other
mitochondrial disease 34778 as a CIV assembly factor [[101]]. A homozygous nonsense mutation was detected in two sisters with a mitochondrial disease characterized by lesions in the medulla oblongata, and an isolated CIV deficiency with reduced levels
mitochondrial disease 43761 oxidative phosphorylation (OXPHOS) system that have been reported in the literature as responsible for many mitochondrial disease s in humans.Importantly, the investigation of patients with these genetic defects has allowed the identification
mitochondrial encephalomyopathy 21148 in <10% of OXPHOS defective cases [[52],[53]]. Two main clinical presentations have been reported: mitochondrial encephalomyopathy and familial paragangliomas.In the first group, LS is the most common clinical and neuropathological
obesity 31883 muscle but a relatively mild phenotype characterized by exercise intolerance, peripheral neuropathy, obesity , and short stature [[97]]. The authors suggested a tissue-specific defect mainly affecting muscle.COA5/C2ORF64

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