Traits

Traits linked to COPZ1

coat protein complex I subunit zeta 1

The Human Phenotype Ontology links 44 traits to COPZ1, 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
Autoimmune hemolytic anemia	Always
Bone marrow failure	Always
Decreased blood lymphocyte number	Always
Decreased mean corpuscular hemoglobin concentration	Always
Decreased mean corpuscular volume	Always
High blood monocyte number	Always
Low blood neutrophil count	Always
Low platelet count	Always
Low T cell count	Always
Decreased blood leukocyte number	Often (30–79%)
Low B cell count	Often (30–79%)
Low number of red blood cells or hemoglobin	Often (30–79%)
Reduced total natural killer cell count	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Baby eczema	Always
Boil	Always
Bone infection	Always
Bronchitis	Always
Infection in blood stream	Always
Inflammation of fat tissue	Always
Meningitis	Always
Pneumonia	Always
Recurrent infections	Always
Recurrent mucocutaneous candidiasis	Always
Recurrent pneumonia	Always
Recurrent sepsis	Always
Severe infection	Always

Abnormal cellular phenotype

Trait	How often it is seen
Increased circulating IgA concentration	Often (30–79%)
Increased circulating IgE concentration	Often (30–79%)
Increased circulating IgG concentration	Often (30–79%)
Increased circulating IgM concentration	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Inflammation of the mouth	Always
Recurrent colds	Always
Inflamed gums	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Club feet	Always
Equinovarus deformity	Always
Pes valgus	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Bacterial infection of skin	Always
Scoliosis	Always

Abnormality of the nervous system

Trait	How often it is seen
Autism spectrum disorder	Often (30–79%)
Intellectual disability	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged liver and spleen	Always

Abnormality of the digestive system

Trait	How often it is seen
Enterocolitis	Always

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Always

Abnormality of the eye

Trait	How often it is seen
Close sighted	Always

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 COPZ1 and how often each is seen. Find out more at hpo.jax.org.

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