Traits

Traits linked to SCNN1A

sodium channel epithelial 1 subunit alpha

The Human Phenotype Ontology links 74 traits to SCNN1A, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Always
Low blood pressure	Always
Abnormal heart rate	Very often (80–99%)
Complete right bundle branch block	Often (30–79%)
Disruption of blood oxygen supply to brain	Often (30–79%)
Fainting spell	Often (30–79%)
Heart stops beating	Often (30–79%)
Hypovolemic shock	Often (30–79%)
ST segment elevation	Often (30–79%)
Elevated heart rate	Sometimes (5–29%)
First degree atrioventricular block	Sometimes (5–29%)
Heart attack	Sometimes (5–29%)
Paroxysmal ventricular tachycardia	Sometimes (5–29%)
Recurrent inflammation of tonsils	Sometimes (5–29%)
Sick sinus syndrome	Sometimes (5–29%)
Supraventricular tachycardia	Sometimes (5–29%)
Ventricular fibrillation	Sometimes (5–29%)
Trifascicular block	Rarely (1–4%)
Ventricular arrhythmia	Rarely (1–4%)

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%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent bronchiolitis	Always
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
Recurrent respiratory infections	Not recorded

Laboratory abnormality

Trait	How often it is seen
Dehydration	Always
Elevated sweat chloride	Always
Increased circulating potassium concentration	Always
Low blood potassium levels	Always
Low blood sodium levels	Always
Metabolic acidosis	Always
Metabolic alkalosis	Always
Fever	Sometimes (5–29%)
Loss of salt in urine	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Decreased circulating renin concentration	Always
Elevated plasma aldosterone	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%)
Hyperactive renin-angiotensin system	Not recorded
Pseudohypoaldosteronism	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%)
Diarrhea	Not recorded

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%)
Faltering weight	Not recorded

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 SCNN1A and how often each is seen. Find out more at hpo.jax.org.

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