Traits

Traits linked to CPS1

carbamoyl-phosphate synthase 1

The Human Phenotype Ontology links 20 traits to CPS1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Lethargy	Always
Epilepsy	Very often (80–99%)
Ataxia	Not recorded
Coma	Not recorded
Global developmental delay	Not recorded
Intellectual disability	Not recorded
Irritability	Not recorded

Laboratory abnormality

Trait	How often it is seen
High blood ammonia levels	Always
Abnormal urinary amino-acid findings	Very often (80–99%)
Episodic ammonia intoxication	Very often (80–99%)
Low blood arginine levels	Very often (80–99%)
Brain swelling	Not recorded
Decreased circulating citrulline concentration	Not recorded
Respiratory alkalosis	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Protein avoidance	Not recorded
Vomiting	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Stroke	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	Very often (80–99%)

Growth abnormality

Trait	How often it is seen
Faltering weight	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 CPS1 and how often each is seen. Find out more at hpo.jax.org.

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