Traits

Traits linked to TRPV3

transient receptor potential cation channel subfamily V member 3

The Human Phenotype Ontology links 39 traits to TRPV3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the integument

Trait	How often it is seen
Hyperparakeratosis	Always
Itching	Always
Orthokeratosis	Always
Periorificial hyperkeratosis	Always
Abnormal fingernails	Very often (80–99%)
Cracked skin	Very often (80–99%)
Lack of sweating	Very often (80–99%)
Sparse hair	Very often (80–99%)
Thickened skin	Very often (80–99%)
Open skin sore	Often (30–79%)
Alopecia universalis	Sometimes (5–29%)
Excessive sweating	Sometimes (5–29%)
Hair loss	Sometimes (5–29%)
Skin cancer	Sometimes (5–29%)
Atypical nail growth	Not recorded
Parakeratosis	Not recorded
Poor nail formation	Not recorded
Thickened, discolored skin under nail	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormal dentition	Often (30–79%)
Dental cavities	Often (30–79%)
Failure of development of between one and six teeth	Often (30–79%)
Abnormality of lining of mouth	Sometimes (5–29%)
Abnormality of the gums	Sometimes (5–29%)
Abnormality of the tongue	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Patchy palmoplantar hyperkeratosis	Always
Thickening of palms and soles	Always
Excessive sweating of palms and soles	Very often (80–99%)
Autoamputation of digits	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Ankylosis	Very often (80–99%)
Breakdown of bone	Sometimes (5–29%)
Flexed joint that cannot be straightened	Not recorded

Abnormality of the eye

Trait	How often it is seen
Corneal opacity	Sometimes (5–29%)
Opacification of the corneal stroma	Sometimes (5–29%)

Abnormal tissue mass

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

Abnormality of prenatal development or birth

Trait	How often it is seen
Amniotic constriction ring	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Redness of skin or mucous membrane	Very often (80–99%)

Abnormality of the ear

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

Abnormality of the nervous system

Trait	How often it is seen
Epilepsy	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Lung cancer	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 TRPV3 and how often each is seen. Find out more at hpo.jax.org.

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