Traits

Traits linked to AP3B1

adaptor related protein complex 3 subunit beta 1

The Human Phenotype Ontology links 45 traits to AP3B1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Chronic oral thrush	Always
Coarse facial features	Always
Dental cavities	Always
Eye folds	Always
Gum disease	Always
Long philtrum	Always
Thin red part of the upper lip	Always
Wide nasal bridge	Always
Abnormally small head	Not recorded
Smooth philtrum	Not recorded
Upward slanting of the opening between the eyelids	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Absent platelet dense granules	Always
Enlarged platelet dense granules	Always
Impaired ADP-induced platelet aggregation	Always
Inverted CD4:CD8 ratio	Always
Low blood neutrophil count	Always
Low platelet count	Always
Prolonged bleeding time	Always
Reduced total natural killer cell count	Always

Abnormality of the eye

Trait	How often it is seen
Decreased clarity of vision	Always
Extreme sensitivity of the eyes to light	Always
Horizontal nystagmus	Always
Involuntary, rapid, rhythmic eye movements	Always
Absent pigmentation in the eye	Not recorded
Cross-eyed	Not recorded

Abnormality of the integument

Trait	How often it is seen
Albinism	Always
Fair hair	Always
Fair skin	Always
Aberrant melanosome maturation	Not recorded

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Always
Low-set ears	Always
Recurrent middle ear infection	Always

Abnormality of the immune system

Trait	How often it is seen
Recurrent bacterial infections	Always
Recurrent abscess formation	Often (30–79%)
Recurrent pneumonia	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability, mild	Always
Mild global developmental delay	Always
Motor delay	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged liver and spleen	Always
Increased spleen size	Always

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Always
Enlarged liver	Always

Abnormal cellular phenotype

Trait	How often it is seen
Abnormal natural killer cell physiology	Always

Abnormality of limbs

Trait	How often it is seen
Acetabular dysplasia	Always

Abnormality of the respiratory system

Trait	How often it is seen
Pulmonary scarring	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 AP3B1 and how often each is seen. Find out more at hpo.jax.org.

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