Traits

Traits linked to ABCB1

ATP binding cassette subfamily B member 1

The Human Phenotype Ontology links 12 traits to ABCB1, 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
Abnormal pyramidal sign	Always
Acute encephalopathy	Always
Ataxia	Always
Coma	Always
Disturbances of consciousness	Always
Increased reflexes	Always
Visual hallucinations	Always

Abnormality of the digestive system

Trait	How often it is seen
Abdominal pain	Always
Vomiting	Always
Inflammation of the large intestine	Not recorded

Abnormality of the eye

Trait	How often it is seen
Double vision	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Always

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 ABCB1 and how often each is seen. Find out more at hpo.jax.org.

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