Traits

Traits linked to SCNN1B

sodium channel epithelial 1 subunit beta

The Human Phenotype Ontology links 55 traits to SCNN1B, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the respiratory system

Trait	How often it is seen
Permanent enlargement of the airways of the lungs	Always
Functional respiratory abnormality	Very often (80–99%)
Respiratory tract infection	Very often (80–99%)
Wet cough	Very often (80–99%)
Breathing difficulty	Often (30–79%)
Coughing up blood	Often (30–79%)
Crackles	Often (30–79%)
Reduced FEV1/FVC ratio	Often (30–79%)
Wheezing	Often (30–79%)
Cough	Sometimes (5–29%)
Emphysema	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Hypokalemic alkalosis	Always
Low blood potassium levels	Always
Increased circulating potassium concentration	Very often (80–99%)
Low blood sodium levels	Very often (80–99%)
Metabolic acidosis	Very often (80–99%)
Dehydration	Often (30–79%)
Elevated sweat chloride	Sometimes (5–29%)
Fever	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Always
Abnormal heart rate	Very often (80–99%)
Disruption of blood oxygen supply to brain	Often (30–79%)
Hypovolemic shock	Often (30–79%)
Heart attack	Sometimes (5–29%)
Recurrent inflammation of tonsils	Sometimes (5–29%)
Low blood pressure	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Recurrent chest infections	Often (30–79%)
Recurrent Haemophilus influenzae infection	Often (30–79%)
Acute infectious pneumonia	Sometimes (5–29%)
Baby eczema	Sometimes (5–29%)
Bone infection	Sometimes (5–29%)
Pimple	Sometimes (5–29%)
Chronic bronchitis	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Decreased circulating renin concentration	Always
Low blood aldosterone level	Always
Abnormal circulating aldosterone	Very often (80–99%)
Elevated blood renin level	Very often (80–99%)
Glucocortocoid-insensitive primary hyperaldosteronism	Very often (80–99%)
Elevated plasma aldosterone	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Constipation	Very often (80–99%)
Vomiting	Often (30–79%)
Feeding difficulties in infancy	Sometimes (5–29%)
Gallstones	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight in infancy	Often (30–79%)
Proportionate short stature	Sometimes (5–29%)
Wasting syndrome	Sometimes (5–29%)
Weight loss	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Recurrent upper and lower respiratory tract infections	Often (30–79%)
Bad breath	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Kidney damage	Often (30–79%)
Renal failure	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Chest pain	Often (30–79%)
Fatigue	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Clubbing of fingers and toes	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Muscle weakness	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 SCNN1B and how often each is seen. Find out more at hpo.jax.org.

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