Traits

Traits linked to EDN3

endothelin 3

The Human Phenotype Ontology links 51 traits to EDN3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the digestive system

Trait	How often it is seen
Enlarged colon lacking nerve cells	Always
Abdominal pain	Very often (80–99%)
Abnormality of the intestine	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%)
Colon perforation	Sometimes (5–29%)
Diarrhea	Sometimes (5–29%)
Enterocolitis	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormality of the eyebrow	Very often (80–99%)
White eyebrow	Very often (80–99%)
White eyelashes	Very often (80–99%)
Abnormality of the nose	Often (30–79%)
Monobrow	Often (30–79%)
Prominent nasal bridge	Often (30–79%)
Underdeveloped tissue around nostril	Often (30–79%)
Wide nasal bridge	Often (30–79%)
Corners of eye widely separated	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormality of the autonomic nervous system	Very often (80–99%)
Olfactory lobe absence	Often (30–79%)
Cancer of early nerve cells	Sometimes (5–29%)
Cognitive impairment	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Ganglioneuroblastoma	Sometimes (5–29%)
Ganglioneuroma	Sometimes (5–29%)
Tumors of the central nervous system	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormal macular morphology	Very often (80–99%)
Abnormality of the eye	Very often (80–99%)
Abnormality of vision	Very often (80–99%)
Abnormal retinal pigmentation	Sometimes (5–29%)
Blue eyes	Not recorded
Different colored eyes	Not recorded

Abnormality of the integument

Trait	How often it is seen
Loss of hair color	Very often (80–99%)
Premature graying of hair	Very often (80–99%)
White part of hair above forehead	Very often (80–99%)
Patchy loss of skin color	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%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Very often (80–99%)
Sensorineural hearing impairment	Not recorded

Abnormality of the immune system

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

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	Very often (80–99%)

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 EDN3 and how often each is seen. Find out more at hpo.jax.org.

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