Traits

Traits linked to PLCG2

phospholipase C gamma 2

The Human Phenotype Ontology links 27 traits to PLCG2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the immune system

Trait	How often it is seen
Recurrent sinus and lung infections	Always
Unusual bronchiolitis	Always
Allergy	Often (30–79%)
Antinuclear antibody positivity	Often (30–79%)
Asthma	Often (30–79%)
Unusual fungal nail infection	Sometimes (5–29%)
Immune dysregulation	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Cold urticaria	Always
Redness of skin or mucous membrane	Always
Presyncope	Often (30–79%)
Skin writing	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating IgA concentration	Always
Decreased circulating IgM concentration	Always

Abnormality of the digestive system

Trait	How often it is seen
Enterocolitis	Always
Ulcerative colitis	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Often (30–79%)
Damage to outer layer of the cornea of the eye	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Itching	Always
Blotchy loss of skin color	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Decreased class-switched memory B cell proportion	Always

Abnormality of head or neck

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

Abnormality of the ear

Trait	How often it is seen
Recurrent middle ear infection	Sometimes (5–29%)

Abnormality of the endocrine system

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

Abnormality of the musculoskeletal system

Trait	How often it is seen
Bacterial infection of skin	Always

Abnormality of the respiratory system

Trait	How often it is seen
Interstitial pneumonitis	Always

Constitutional symptom

Trait	How often it is seen
Joint pain	Always

Laboratory abnormality

Trait	How often it is seen
Angioedema	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 PLCG2 and how often each is seen. Find out more at hpo.jax.org.

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