Traits

Traits linked to CBLB

Cbl proto-oncogene B

The Human Phenotype Ontology links 16 traits to CBLB, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the immune system

Trait	How often it is seen
Decreased circulating specific pneumococcal antibody concentration	Always
Increased circulating interleukin 10 concentration	Always
Increased circulating interleukin 6 concentration	Always
Partial absence of specific antibody response to tetanus vaccine	Often (30–79%)
Recurrent chest infections	Often (30–79%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating IgA concentration	Often (30–79%)
Decreased circulating IgG concentration	Often (30–79%)
Decreased circulating IgM concentration	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Autoimmune hemolytic anemia	Often (30–79%)
Hepatic hemophagocytosis	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Episodic fever	Often (30–79%)
Type 1 diabetes	Often (30–79%)

Abnormality of the cardiovascular system

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

Abnormality of the ear

Trait	How often it is seen
Recurrent middle ear infection	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Underactive thyroid	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Blotchy loss of skin color	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 CBLB and how often each is seen. Find out more at hpo.jax.org.

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