Traits

Traits linked to CSF2RA

colony stimulating factor 2 receptor subunit alpha

The Human Phenotype Ontology links 21 traits to CSF2RA, 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
Decreased DLCO	Always
Ground-glass opacification	Always
Breathing difficulties	Often (30–79%)
Crazy paving pattern	Often (30–79%)
Low blood oxygen level	Often (30–79%)
Reduced forced expiratory volume in one second	Often (30–79%)
Reduced forced vital capacity	Often (30–79%)
Respiratory failure requiring assisted ventilation	Often (30–79%)
Stiff lung or chest wall causing decreased lung volume	Often (30–79%)
Cough	Sometimes (5–29%)
Crackles	Sometimes (5–29%)
Increased respiratory rate or depth of breathing	Sometimes (5–29%)
Intraalveolar phospholipid accumulation	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Elevated heart rate	Sometimes (5–29%)
Foam cells	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Acute infectious pneumonia	Sometimes (5–29%)
Autoimmune antibody positivity	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Faltering weight in infancy	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Blood protein disease	Very often (80–99%)
Elevated circulating CEA concentration	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 CSF2RA and how often each is seen. Find out more at hpo.jax.org.

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