Traits

Traits linked to TYR

tyrosinase

The Human Phenotype Ontology links 40 traits to TYR, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	How often it is seen
Abnormal retinal pigmentation	Very often (80–99%)
Absent pigmentation in the eye	Very often (80–99%)
Cross-eyed	Very often (80–99%)
Extreme sensitivity of the eyes to light	Very often (80–99%)
Hypoplasia of the fovea	Very often (80–99%)
Involuntary, rapid, rhythmic eye movements	Very often (80–99%)
Light eye color	Very often (80–99%)
Abnormality of visual evoked potentials	Often (30–79%)
Different colored eyes	Often (30–79%)
Optic nerve issue	Often (30–79%)
Visual impairment	Often (30–79%)
Drooping upper eyelid	Sometimes (5–29%)
Abnormality of refraction	Not recorded
Astigmatism	Not recorded
Blue eyes	Not recorded
Close sighted	Not recorded
Decreased clarity of vision	Not recorded
Fundus hypopigmentation	Not recorded
Outward facing eye ball	Not recorded

Abnormality of the integument

Trait	How often it is seen
Albinism	Very often (80–99%)
Freckling	Very often (80–99%)
Loss of hair color	Very often (80–99%)
Patchy lightened skin	Very often (80–99%)
Premature graying of hair	Very often (80–99%)
Beauty mark	Often (30–79%)
Patchy loss of skin color	Often (30–79%)
White part of hair above forehead	Often (30–79%)
Basal cell carcinoma	Sometimes (5–29%)
Hyperkeratosis	Sometimes (5–29%)
Squamous cell carcinoma of the skin	Sometimes (5–29%)
Thickened skin	Sometimes (5–29%)
Absent skin pigmentation	Not recorded
White hair	Not recorded

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Very often (80–99%)
Sensorineural hearing impairment	Often (30–79%)

Abnormal tissue mass

Trait	How often it is seen
Cancer of skin pigment cells	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Corners of eye widely separated	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of lung artery	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Enlarged colon lacking nerve cells	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the kidney	Sometimes (5–29%)

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

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