Traits

Traits linked to ERBB3

erb-b2 receptor tyrosine kinase 3

The Human Phenotype Ontology links 56 traits to ERBB3, by body system: features seen in people with one of the gene's rare conditions.

ERBB3

Abnormality of the digestive system

Trait	How often it is seen
Enlarged colon lacking nerve cells	Always
Abdominal pain	Very often (80–99%)
Constipation	Very often (80–99%)
Functional abnormality of the gastrointestinal tract	Very often (80–99%)
Intestinal obstruction	Very often (80–99%)
Nausea and vomiting	Very often (80–99%)
Abdominal bloating	Often (30–79%)
Bilious emesis	Often (30–79%)
Feeding difficulties	Often (30–79%)
Intestinal pseudo-obstruction	Often (30–79%)
Colon perforation	Sometimes (5–29%)
Diarrhea	Sometimes (5–29%)
Enterocolitis	Sometimes (5–29%)
Colonic diverticula	Not recorded
Enlarged liver	Not recorded
Functional intestinal obstruction	Not recorded
Intermittent abdominal pain	Not recorded
Intestinal malrotation	Not recorded
Vomiting	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormal autonomic nervous system physiology	Often (30–79%)
Aplasia of the olfactory bulb	Often (30–79%)
Peripheral neuropathy	Often (30–79%)
Absent reflexes	Not recorded
Akinesia	Not recorded
Difficulty articulating speech	Not recorded
Impaired proprioception	Not recorded
Impaired vibratory sensation	Not recorded
Inability to coordinate movements when walking	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Refractory anemia with ringed sideroblasts	Always
Acute myeloid leukemia	Not recorded
Blood cancer	Not recorded
Erythroid hyperplasia	Not recorded
Low number of red blood cells or hemoglobin	Not recorded
Low platelet count	Not recorded

Growth abnormality

Trait	How often it is seen
Weight loss	Often (30–79%)
Faltering weight in infancy	Sometimes (5–29%)
Growth delay	Sometimes (5–29%)
Short stature	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Delayed passage of meconium	Often (30–79%)
High levels of amniotic fluid	Sometimes (5–29%)
Less than 10 fetal movements in 12 hours	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Stretched and thinned heart muscle	Sometimes (5–29%)
Increased spleen size	Not recorded

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Often (30–79%)
Degenerative vitreoretinopathy	Not recorded
Severe near sightedness	Not recorded

Abnormality of the ear

Trait	How often it is seen
Absent ear canal	Always
Hearing impairment	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthrogryposis multiplex congenita	Often (30–79%)
Muscle degeneration	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Little lower jaw	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Hydronephrosis	Not recorded

Abnormality of the immune system

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

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory failure	Not recorded

Laboratory abnormality

Trait	How often it is seen
Fluid retention	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 ERBB3 and how often each is seen. Find out more at hpo.jax.org.

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