Traits

Traits linked to SLC34A2

solute carrier family 34 member 2

The Human Phenotype Ontology links 45 traits to SLC34A2, 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
Breathing difficulty	Often (30–79%)
Dry cough	Often (30–79%)
Oxygen desaturation on exertion	Often (30–79%)
Stiff lung or chest wall causing decreased lung volume	Often (30–79%)
Collapsed lung	Sometimes (5–29%)
Coughing up blood	Sometimes (5–29%)
Exertional breathlessness	Sometimes (5–29%)
Increased respiratory rate or depth of breathing	Sometimes (5–29%)
Interlobular septal thickening	Sometimes (5–29%)
Low blood oxygen level	Sometimes (5–29%)
Lung infiltrates	Sometimes (5–29%)
Permanent enlargement of the airways of the lungs	Sometimes (5–29%)
Pleural thickening	Sometimes (5–29%)
Respiratory function loss	Sometimes (5–29%)
Subpleural interstitial thickening	Sometimes (5–29%)
Ground-glass opacification	Rarely (1–4%)
Pulmonary scarring	Rarely (1–4%)
Respiratory failure	Rarely (1–4%)
Respiratory tract infection	Rarely (1–4%)
Progressive pulmonary function impairment	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated circulating surfactant protein concentration	Often (30–79%)
Peripheral edema	Sometimes (5–29%)
Blood in urine	Rarely (1–4%)
Fever	Rarely (1–4%)
Abnormal blood calcium levels	Not recorded
Abnormal circulating phosphate ion concentration	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased pulmonary vascular resistance	Often (30–79%)
Right ventricular failure	Sometimes (5–29%)
Calcification of the aorta	Rarely (1–4%)
Mitral valve calcification	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Calcium kidney stone	Rarely (1–4%)
Decreased fertility	Rarely (1–4%)
Gonadal calcification	Rarely (1–4%)
Testicular microlithiasis	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Fatigable weakness	Sometimes (5–29%)
Ectopic calcification	Rarely (1–4%)
Intraalveolar nodular calcifications	Not recorded

Abnormality of limbs

Trait	How often it is seen
Clubbing of fingers	Sometimes (5–29%)
Stippled calcification in carpal bones	Rarely (1–4%)

Constitutional symptom

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

Abnormality of the digestive system

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

Abnormality of the immune system

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

Abnormality of the integument

Trait	How often it is seen
Blue discoloration of the skin	Sometimes (5–29%)

Growth abnormality

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

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 SLC34A2 and how often each is seen. Find out more at hpo.jax.org.

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