Traits

Traits linked to HPS1

HPS1 biogenesis of lysosomal organelles complex 3 subunit 1

The Human Phenotype Ontology links 24 traits to HPS1, 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
Bruising susceptibility	Always
Ecchymosis	Always
Bleeding gums	Not recorded
Bloody nose	Not recorded
Prolonged bleeding time	Not recorded
Rectal bleeding	Not recorded

Abnormality of the integument

Trait	How often it is seen
Loss of hair color	Always
Patchy lightened skin	Always
Albinism	Not recorded
Beauty mark	Not recorded
Freckles in sun-exposed areas	Not recorded
Freckling	Not recorded

Abnormality of the eye

Trait	How often it is seen
Extreme sensitivity of the eyes to light	Always
Involuntary, rapid, rhythmic eye movements	Always
Absent pigmentation in the eye	Not recorded
Blindness	Not recorded
Marked vision impairment	Not recorded

Abnormality of the digestive system

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

Abnormality of the respiratory system

Trait	How often it is seen
Pulmonary scarring	Not recorded
Stiff lung or chest wall causing decreased lung volume	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Disease of the heart muscle	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Renal failure	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 HPS1 and how often each is seen. Find out more at hpo.jax.org.

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