Traits

Traits linked to LRRC8A

leucine rich repeat containing 8 VRAC subunit A

The Human Phenotype Ontology links 30 traits to LRRC8A, 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
Decreased immune function	Very often (80–99%)
Recurrent infections	Very often (80–99%)
Recurrent respiratory infections	Very often (80–99%)
Recurrent skin infections	Very often (80–99%)
Skin rash	Very often (80–99%)
Bone infection	Often (30–79%)
Infection in blood stream	Sometimes (5–29%)
Meningitis	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Pink eye	Very often (80–99%)
Sinus disease	Very often (80–99%)
Eye folds	Sometimes (5–29%)
High palate	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Diarrhea	Very often (80–99%)
Liver inflammation	Sometimes (5–29%)
Malabsorption	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Chronic infections of the middle ear	Very often (80–99%)
Abnormally shaped ears	Sometimes (5–29%)
Low-set ears	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthritis	Often (30–79%)
Bacterial infection of skin	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Cough	Very often (80–99%)
Permanent enlargement of the airways of the lungs	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Fever	Very often (80–99%)
Dehydration	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Agammaglobulinemia	Very often (80–99%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low blood neutrophil count	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Sometimes (5–29%)

Abnormality of the integument

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

Constitutional symptom

Trait	How often it is seen
Fatigue	Very often (80–99%)

Growth abnormality

Trait	How often it is seen
Faltering weight	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 LRRC8A and how often each is seen. Find out more at hpo.jax.org.

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