Traits

Traits linked to SLC9A3

solute carrier family 9 member A3

The Human Phenotype Ontology links 47 traits to SLC9A3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the digestive system

Trait	How often it is seen
Abdominal bloating	Always
Secretory diarrhea	Always
Dependency on parenteral nutrition	Very often (80–99%)
Inability to properly digest food due to lack of pancreatic digestive enzymes	Very often (80–99%)
Malabsorption	Very often (80–99%)
Abnormality of the liver	Sometimes (5–29%)
Acid reflux	Sometimes (5–29%)
Fat in feces	Sometimes (5–29%)
Ileal ulcer	Sometimes (5–29%)
Inflammation of the large intestine	Sometimes (5–29%)
Meconium ileus	Sometimes (5–29%)
Rectum protrudes through anus	Sometimes (5–29%)
Villous atrophy	Sometimes (5–29%)
Scar tissue replaces healthy tissue in the liver	Rarely (1–4%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Very often (80–99%)
Asthma	Sometimes (5–29%)
Recurrent Aspergillus infection	Sometimes (5–29%)
Recurrent chest infections	Sometimes (5–29%)
Recurrent Haemophilus influenzae infection	Sometimes (5–29%)
Recurrent Staphylococcus aureus infection	Sometimes (5–29%)
Nontuberculous mycobacterial pulmonary infection	Rarely (1–4%)
Recurrent Burkholderia cepacia infection	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
Elevated stool chloride content	Always
Elevated fecal sodium	Very often (80–99%)
Elevated sweat chloride	Very often (80–99%)
Reduced fecal osmolality	Very often (80–99%)
Elevated fecal pH	Often (30–79%)
High liver enzymes	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Obstructive lung disease	Very often (80–99%)
Permanent enlargement of the airways of the lungs	Very often (80–99%)
Reduced forced expiratory volume in one second	Sometimes (5–29%)
Collapsed lung	Rarely (1–4%)
Coughing up blood	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Absent vas deferens	Very often (80–99%)
Male infertility	Often (30–79%)
Kidney stone	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Decreased body mass index	Sometimes (5–29%)
Growth delay as children	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Sinus disease	Sometimes (5–29%)
Nasal polyposis	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Osteopenia	Sometimes (5–29%)
Osteoporosis	Rarely (1–4%)

Abnormality of the nervous system

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

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Always

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Rarely (1–4%)

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 SLC9A3 and how often each is seen. Find out more at hpo.jax.org.

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