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Traits
Traits linked to BACH2
BACH transcriptional regulator 2
The Human Phenotype Ontology links 18 traits to BACH2, by body system: features seen in people with one of the gene's rare conditions.
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Abnormal cellular phenotype
| Trait | How often it is seen |
|---|---|
| Decreased circulating IgA concentration | Always |
| Decreased circulating IgE concentration | Often (30–79%) |
| Decreased circulating IgG concentration | Often (30–79%) |
| Decreased circulating IgM concentration | Often (30–79%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Chronic diarrhea | Always |
| Crohn's disease | Often (30–79%) |
| Ulcerative colitis | Often (30–79%) |
| Colitis | Not recorded |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Decreased memory B cell proportion | Always |
| Decreased total basophil count | Always |
| Low blood cell count | Not recorded |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Permanent enlargement of the airways of the lungs | Often (30–79%) |
| Lung infiltrates | Not recorded |
| Pulmonary scarring | Not recorded |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Recurrent sinus and lung infections | Always |
| Perinuclear antineutrophil antibody positivity | Often (30–79%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Increased spleen size | Not recorded |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Fever | Not recorded |
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 BACH2 and how often each is seen. Find out more at hpo.jax.org.
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