Mitochondria Phenome Knowledgebase

Gene Symbol SCO2
Ensembl ID ENSG00000130489 Entrez 9997
Gene Alias MGC125823; MGC125825; SCO1L Subcellular Locations Mitochondria
Map Position 22q13.33 Subcell PMIDs 10218584
OMIM Gene 604272 Protein Complex Respiratory chain complex IV (RCCIV); RCCIV assembly
Swissprot ID O43819 Swissprot Description "SCO2 protein homolog, mitochondrial precursor"
OMIM Disease Fatale infantile cardioencephalopathy due to cytochrome c oxidase deficiency (FIC) [604377]

80 Gene-Feature associations for Gene SCO2

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
SCO2 604377 Acid-base-imbalance metabolic #10545952 #10749987 #10805329 #11673586 #12020273 #14994243 #15210538 #15499950 #16765077
SCO2 604377 Acidosis lactic acidosis; blood; CSF; metabolic acidosis metabolic 10545952 10749987 10805329 11673586 12020273 14994243 15210538 15499950 16765077
SCO2 604377 Aminoacid-levels-abnormal elevated alanine metabolic 11673586 15499950 16326995
SCO2 604377 Axonal-degeneration patchy loss of motor neurons neurologic 10545952
SCO2 604377 Blepharoptosis ptosis ophthalmologic 11673586 16765077
SCO2 604377 Blood-circulation-disorder poor perfusion cardiovascular 10545952
SCO2 604377 Brain-diseases neurologic #10545952 #10749987 #10805329 #11673586 #14994243 #15210538 #15499950 #16326995
SCO2 604377 Cardiomyopathy hypertrophic; cardiac murmur; septal hypertrophy; myocardial fibre disarray cardiovascular 10545952 10749987 10805329 11673586 12020273 14994243 15210538 15499950 16326995 16765077
SCO2 604377 Cardiorespiratory-arrest respiratory failure; cardiac arrest; infant death; heart failure; progressive heart failure cardiovascular 10545952 10749987 10805329 11673586 12020273 14994243 15499950 16326995 16765077
SCO2 604377 Cardiovascular-diseases cardiovascular #10545952 #10749987 #10805329 #11673586 #12020273 #14994243 #15210538 #15499950 #16326995 #16765077
SCO2 604377 Central-nervous-system-diseases neurologic #10545952 #10749987 #10805329 #11673586 #14994243 #15210538 #15499950 #16326995
SCO2 604377 Cerebellar-atrophy cerebellar atrophy neurologic 10749987
SCO2 604377 Cerebral-atrophy enlarged ventricles; prominent sulci; basal ganglia abnormal; brain atrophy; cortical atrophy neurologic 10545952 10749987 11673586 14994243 15499950
SCO2 604377 Cerebral-necrosis lateral globus pallidus; globus pallidus necrosis; putamen necrosis; ventroposterolateral thalamus necrosis; medulla abnormal; olives abnormal; bilateral neurologic 10545952 10749987 11673586
SCO2 604377 Cerebrovascular-disorders neurologic #10545952
SCO2 604377 Copper-levels-abnormal decreased miscellaneous 11673586
SCO2 604377 Cortical-dysplasia abnormal gyral pattern; temporal lobe neurologic 10545952
SCO2 604377 Craniofacial-abnormalities musculoskeletal #15499950
SCO2 604377 Developmental-delay psychomotor retardation neurologic 10545952 10749987 11673586
SCO2 604377 Digestive-system-diseases gastrointestinal #10545952 #10749987 #11673586 #16326995 #16765077
SCO2 604377 Dysmorphism-and-abnormalities dolichocephaly; depressed nasal bridge; high arched palate; hypoplastic toenails of fourth and fifth digits; anteriorly displaced finger like thumbs miscellaneous 10545952
SCO2 604377 Dystonic-disorders limbs neurologic 10545952 10805329
SCO2 604377 Electroencephalogram-abnormal epileptiform discharges; central temporal areas neurologic 10545952 11673586
SCO2 604377 Electromyography-abnormal neurogenic pattern; active denervation; demyelination patterns neurologic 10545952 11673586 16765077
SCO2 604377 Encephalopathy encephalomyelopathy; Leigh like neurologic 10545952 11673586 15210538 15499950 16326995
SCO2 604377 Eye-diseases ophthalmologic #10545952 #10805329 #11673586 #16765077
SCO2 604377 Failure-to-thrive miscellaneous 10545952 16326995
SCO2 604377 Fasciculations lingual neurologic 11673586 12020273
SCO2 604377 Feeding-difficulties poor feeding; progressive feeding difficulty gastrointestinal 10545952 11673586 16765077
SCO2 604377 Female-genital-diseases genitourinary #10749987 #15210538
SCO2 604377 Genitourinary-diseases genitourinary #10749987 #15210538
SCO2 604377 Glucose-metabolism-disorders metabolic #11673586
SCO2 604377 Growth-deficiency intrauterine growth retardation miscellaneous 16765077
SCO2 604377 Growth-disorders miscellaneous #10545952 #16326995 #16765077
SCO2 604377 Hearing-disorders brainstem; auditory evoked responses abnormal; increased central conduction times neurologic 10545952
SCO2 604377 Heart-diseases cardiovascular #10545952 #10749987 #10805329 #11673586 #12020273 #14994243 #15210538 #15499950 #16326995 #16765077
SCO2 604377 Hepatomegaly hyperemia gastrointestinal 10545952 10749987
SCO2 604377 Hyperglycemia metabolic 11673586
SCO2 604377 Hyperhidrosis diaphoresis dermatologic 10545952
SCO2 604377 Hyporeflexia absent stretch reflex; reflexes decreased neurologic 10805329 14994243 15499950
SCO2 604377 Immune-system-diseases immunologic #11673586
SCO2 604377 Infections respiratory tract infections immunologic 11673586
SCO2 604377 Intracranial-hemorrhages petechial haemorrhages neurologic 10545952
SCO2 604377 Joint-diseases musculoskeletal #10749987
SCO2 604377 Joint-instability joint hypermobility musculoskeletal 10749987
SCO2 604377 Lethargy neurologic 10545952
SCO2 604377 Leukoencephalopathy white matter spongiosis; spinal cord; necrosis neurologic 10545952 11673586
SCO2 604377 Liver-diseases hepatic congestion; hepathopathy gastrointestinal 10545952 #10749987 16326995
SCO2 604377 Metabolic-diseases metabolic #10545952 #10749987 #10805329 #11673586 #12020273 #14994243 #15210538 #15499950 #16326995 #16765077
SCO2 604377 Microcephaly musculoskeletal 15499950
SCO2 604377 Mitochondria-abnormal heart; muscle miscellaneous 10749987
SCO2 604377 Movement-disorders involuntary movements neurologic #10545952 10805329 #11673586
SCO2 604377 Muscle-hypotonia hypotonia neurologic 10545952 10749987 10805329 11673586 12020273 14994243 15210538 15499950 16326995
SCO2 604377 Muscle-spasticity spasticity; lower extremities neurologic 11673586
SCO2 604377 Muscle-weakness generalized weakness neurologic 11673586 12020273 15499950
SCO2 604377 Muscular-atrophy muscle atrophy; muscle hypertrophy; spinal muscular atrophy neurologic 12020273 14994243
SCO2 604377 Muscular-diseases muscular dystrophy; myopathy musculoskeletal 10545952 11673586 15210538
SCO2 604377 Musculoskeletal-diseases musculoskeletal #10545952 #10749987 #11673586 #15210538 #15499950
SCO2 604377 Nervous-system-diseases neurologic #10545952 #10749987 #10805329 #11673586 #12020273 #14994243 #15210538 #15499950 #16326995 #16765077
SCO2 604377 Neurobehavioral-manifestations neurologic #10545952
SCO2 604377 Neurologic-manifestations neurologic #10545952 #10749987 #10805329 #11673586 #12020273 #14994243 #15210538 #15499950 #16326995 #16765077
SCO2 604377 Neuromuscular-manifestations neurologic #10545952 #10749987 #10805329 #11673586 #12020273 #14994243 #15210538 #15499950 #16326995 #16765077
SCO2 604377 Neuronal-loss-and-lesions thalamus abnormal; neuronal dropout; ventral horn abnormal neurologic 10545952
SCO2 604377 Ocular-motility-disorders extraocular movements limited; ocular movements impaired ophthalmologic #10545952 #10805329 11673586
SCO2 604377 Pathologic-nystagmus ophthalmologic 10545952 10805329
SCO2 604377 Peripheral-nervous-system-diseases neurologic #10545952 #10805329 #16765077
SCO2 604377 Polyneuropathies axonal neuropathy; demyelinating; sensorimotor neuropathy; somatosensory evoked potentials abnormal; central conduction times increased; peripheral neuropathy neurologic 10545952 10805329 16765077
SCO2 604377 Pregnancy-complications spontaneous abortions; fetal wastage; recurrent abortions; intrauterine deaths; miscarriages genitourinary 10749987 15210538
SCO2 604377 RCCIV-deficiency heart; muscle; brain; liver miscellaneous 10545952 10749987 11673586 12020273 14994243 15499950
SCO2 604377 Reflexes-abnormal neurologic #10805329 #14994243 #15499950
SCO2 604377 Respiration-disorders respiratory #10545952 #10749987 #10805329 #11673586 #12020273 #14994243 #15210538 #15499950 #16765077
SCO2 604377 Respiratory-insufficiency respiratory stridor; dyspnoe; breath holding spells; inspiratory stridor; respiratory failure; respiratory difficulties respiratory 10545952 10749987 10805329 11673586 12020273 14994243 15210538 15499950 16765077
SCO2 604377 Respiratory-tract-diseases respiratory #10545952 #10749987 #10805329 #11673586 #12020273 #14994243 #15210538 #15499950 #16765077
SCO2 604377 Seizures neurologic 10749987 10805329
SCO2 604377 Skin-diseases dermatologic #10545952
SCO2 604377 Spinal-cord-diseases encephalomyelopathy; myelopathy; Leigh like neurologic 10545952 11673586 16326995
SCO2 604377 Strabismus exotropia ophthalmologic 10545952
SCO2 604377 Sweat-gland-diseases dermatologic #10545952
SCO2 604377 Tracheal-diseases tracheomalacia; severe tracheomalazia; Bronchoscopy findings; trachea showed an increased mobility respiratory 10749987
SCO2 604377 Tremor resting tremor; action tremor neurologic 11673586

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