Traits

Traits linked to AP1S3

adaptor related protein complex 1 subunit sigma 3

The Human Phenotype Ontology links 29 traits to AP1S3, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
High ESR	Always
Elevated circulating C-reactive protein concentration	Often (30–79%)
Fever	Often (30–79%)
High liver enzymes	Sometimes (5–29%)
Low albumin	Sometimes (5–29%)
Low blood calcium levels	Sometimes (5–29%)
Low blood sodium levels	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Pimple	Always
Red scaly skin caused by inflammatory skin disease	Very often (80–99%)
Palmoplantar pustulosis	Sometimes (5–29%)
Infection in blood stream	Rarely (1–4%)
Psoriasiform dermatitis	Not recorded

Abnormality of the integument

Trait	How often it is seen
Erythematous plaque	Always
Abnormality of the nail	Very often (80–99%)
Poor nail formation	Not recorded

Constitutional symptom

Trait	How often it is seen
Joint pain	Always
Pain	Very often (80–99%)
Fatigue	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Elevated white blood count	Often (30–79%)
Decreased blood lymphocyte number	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Geographic tongue	Often (30–79%)
Inflammation of the lips	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Overweight	Often (30–79%)
Obesity	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Fluid accumulation in lower limbs	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Cardiac failure	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Uveitis	Rarely (1–4%)

Abnormality of the genitourinary system

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

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthritis	Often (30–79%)

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 AP1S3 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