Traits

Traits linked to HPS4

HPS4 biogenesis of lysosomal organelles complex 3 subunit 2

The Human Phenotype Ontology links 12 traits to HPS4, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Abnormally heavy bleeding during menstruation	Always
Absent platelet dense granules	Always
Bleeding tendency	Always
Bruising susceptibility	Always
Bloody nose	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Decreased clarity of vision	Always
Absent pigmentation in the eye	Not recorded
Horizontal nystagmus	Not recorded
Hypoplasia of the fovea	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Stiff lung or chest wall causing decreased lung volume	Often (30–79%)
Pulmonary scarring	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Albinism	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 HPS4 and how often each is seen. Find out more at hpo.jax.org.

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