Traits

Traits linked to SFTPB

surfactant protein B

The Human Phenotype Ontology links 35 traits to SFTPB, 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
Intraalveolar phospholipid accumulation	Always
Abnormality in area between air sacs in lung	Very often (80–99%)
Ground-glass opacification	Very often (80–99%)
Increased respiratory rate or depth of breathing	Very often (80–99%)
Low blood oxygen level	Very often (80–99%)
Neonatal respiratory distress	Very often (80–99%)
Apnea	Often (30–79%)
Interlobular septal thickening	Often (30–79%)
Lung infiltrates	Often (30–79%)
Nasal flaring	Often (30–79%)
Partial or complete collapse of part or entire lung	Often (30–79%)
Pulmonary opacity	Often (30–79%)
Respiratory failure	Often (30–79%)
Chronic lung disease	Sometimes (5–29%)
Interstitial pneumonitis	Sometimes (5–29%)
Respiratory tract infection	Sometimes (5–29%)
Spontaneous neonatal pneumothorax	Sometimes (5–29%)
Absent bronchoalveolar dimeric surfactant-protein B	Not recorded
Breathing difficulty	Not recorded
Desquamative interstitial pneumonitis	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased blood pressure in blood vessels of lungs	Often (30–79%)
Misalignment of the pulmonary veins	Often (30–79%)
Elevated heart rate	Sometimes (5–29%)
Heart stops beating	Sometimes (5–29%)
Low blood pressure	Sometimes (5–29%)
Right ventricular hypertrophy	Sometimes (5–29%)
Slow heartbeats	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Pneumonia	Sometimes (5–29%)
Infection in blood stream	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Clubbing of fingers and toes	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Premature birth	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Blue discoloration of the skin	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormality of the chest	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Not recorded

Laboratory abnormality

Trait	How often it is seen
Excess fluid in lungs	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 SFTPB and how often each is seen. Find out more at hpo.jax.org.

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