Traits

Traits linked to MUC5B

mucin 5B, oligomeric mucus/gel-forming

The Human Phenotype Ontology links 26 traits to MUC5B, 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
Abnormality in area between air sacs in lung	Very often (80–99%)
Cough	Often (30–79%)
Crackles	Often (30–79%)
Decreased DLCO	Often (30–79%)
Exertional breathlessness	Often (30–79%)
Ground-glass opacification	Often (30–79%)
Honeycomb lung	Often (30–79%)
Permanent enlargement of the airways of the lungs	Often (30–79%)
Pulmonary scarring	Often (30–79%)
Reduced forced vital capacity	Often (30–79%)
Reticular pattern on pulmonary HRCT	Often (30–79%)
Subpleural honeycombing	Often (30–79%)
Usual interstitial pneumonia	Often (30–79%)
Orthodeoxia	Sometimes (5–29%)
Alveolar cell carcinoma	Not recorded
Breathing difficulty	Not recorded
Elevated bronchoalveolar lavage fluid neutrophil proportion	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Pulmonic regurgitation	Sometimes (5–29%)
Increased blood pressure in blood vessels of lungs	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Often (30–79%)
Scar tissue replaces healthy tissue in the liver	Not recorded

Constitutional symptom

Trait	How often it is seen
Fatigue	Often (30–79%)
Decreased ability to exercise	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Increased antibody level in blood	Not recorded

Abnormality of limbs

Trait	How often it is seen
Clubbing of fingers	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Persistent blue color of hands or feet	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 MUC5B and how often each is seen. Find out more at hpo.jax.org.

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