Traits

Traits linked to CAST

calpastatin

The Human Phenotype Ontology links 17 traits to CAST, 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
Abnormal blistering of the skin	Always
Acantholysis	Always
Follicular hyperkeratosis	Always
Hyperkeratosis	Always
Scaling skin	Always
Thickening of upper layer of skin	Always
White discoloration of nails	Always
Fragile skin	Often (30–79%)
Detachment of nail	Sometimes (5–29%)
Dry skin	Sometimes (5–29%)
Itching	Sometimes (5–29%)
Knuckle pad	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Inflammation of corners of the mouth	Often (30–79%)
Inflammation of the lips	Often (30–79%)
Oral white patch	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Punctate palmoplantar hyperkeratosis	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Telangiectases of the cheeks	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 CAST and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test