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	Cât de frecvent apare
Decreased immune function	Foarte des (80–99%)
Recurrent infections	Foarte des (80–99%)
Recurrent respiratory infections	Foarte des (80–99%)
Recurrent skin infections	Foarte des (80–99%)
Skin rash	Foarte des (80–99%)
Bone infection	Des (30–79%)
Infection in blood stream	Uneori (5–29%)
Meningitis	Uneori (5–29%)

Abnormality of head or neck

Trait	Cât de frecvent apare
Pink eye	Foarte des (80–99%)
Sinus disease	Foarte des (80–99%)
Eye folds	Uneori (5–29%)
High palate	Uneori (5–29%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Diarrhea	Foarte des (80–99%)
Liver inflammation	Uneori (5–29%)
Malabsorption	Uneori (5–29%)

Abnormality of the ear

Trait	Cât de frecvent apare
Chronic infections of the middle ear	Foarte des (80–99%)
Abnormally shaped ears	Uneori (5–29%)
Low-set ears	Neînregistrat

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Arthritis	Des (30–79%)
Bacterial infection of skin	Uneori (5–29%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Cough	Foarte des (80–99%)
Permanent enlargement of the airways of the lungs	Uneori (5–29%)

Laboratory abnormality

Trait	Cât de frecvent apare
Fever	Foarte des (80–99%)
Dehydration	Uneori (5–29%)

Abnormal cellular phenotype

Trait	Cât de frecvent apare
Agammaglobulinemia	Foarte des (80–99%)

Abnormality of blood and blood-forming tissues

Trait	Cât de frecvent apare
Low blood neutrophil count	Uneori (5–29%)

Abnormality of the eye

Trait	Cât de frecvent apare
Wide-set eyes	Uneori (5–29%)

Abnormality of the integument

Trait	Cât de frecvent apare
Warts	Uneori (5–29%)

Constitutional symptom

Trait	Cât de frecvent apare
Fatigue	Foarte des (80–99%)

Growth abnormality

Trait	Cât de frecvent apare
Faltering weight	Des (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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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