Traits

Traits linked to SCO1

synthesis of cytochrome C oxidase 1

The Human Phenotype Ontology links 57 traits to SCO1, by body system: features seen in people with one of the gene's rare conditions.

SCO1

Laboratory abnormality

Trait	How often it is seen
Elevated circulating alanine aminotransferase concentration	Always
Elevated circulating aspartate aminotransferase concentration	Always
Fatty infiltration of liver	Always
Higher than normal levels of lactate in blood	Always
Increased blood alanine	Always
Increased lactate in body	Always
Increased urine succinate level	Always
Low blood sugar	Always
Metabolic acidosis	Always
Abnormal urinary amino-acid findings	Not recorded
Glucose in urine	Not recorded
High urine phosphate levels	Not recorded
High urine protein levels	Not recorded
Increased CSF lactate	Not recorded
Increased hepatocellular lipid droplets	Not recorded
Increased intramyocellular lipid droplets	Not recorded
Renal Fanconi syndrome	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Ataxia	Always
Brain degeneration	Always
Brisk reflexes	Always
Instability or lack of coordination of central trunk muscles	Always
Loss of developmental milestones	Always
Epilepsy	Not recorded
Global developmental delay	Not recorded
Intellectual disability	Not recorded
Leukoencephalopathy	Not recorded
Motor delay	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Cardiac failure	Always
Left ventricular hypertrophy	Always
Slow heartbeats	Always
Ventricular hypertrophy	Always
Enlarged and thickened heart muscle	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Cytochrome C oxidase-negative muscle fibers	Always
Generalized decreased muscle tone	Always
Low muscle tone	Always
Low muscle tone in trunk	Always
Decreased lung function due to weak breathing muscles	Not recorded

Abnormality of the eye

Trait	How often it is seen
Optic atrophy	Always
Weakness of muscles controlling eye movement	Always
Drooping upper eyelid	Not recorded
Pigmentary retinopathy	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Apnea	Always
Respiratory failure	Always
Breathing difficulties	Not recorded
Exertional breathlessness	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Always
Feeding difficulties in infancy	Always
Decreased liver function	Not recorded

Abnormality of head or neck

Trait	How often it is seen
High palate	Not recorded
Weakness of facial musculature	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Prenatal growth deficiency	Always

Abnormal cellular phenotype

Trait	How often it is seen
Decreased plasma free carnitine	Always

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Not recorded

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal function of filtrating structures in kidney	Not recorded

Constitutional symptom

Trait	How often it is seen
Decreased ability to exercise	Not recorded

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to SCO1 and how often each is seen. Find out more at hpo.jax.org.

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