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EDN3 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

EDN3 gene

The EDN3 gene produces endothelin 3, a protein critical for the development of intestinal nerves and pigment-producing cells during embryonic growth.

Normal Function

The EDN3 gene provides instructions for making a protein called endothelin 3. Proteins in the endothelin family are produced in various cells and tissues, where they are involved in the development and function of blood vessels, the production of certain hormones, and the stimulation of cell growth and division (proliferation).

Endothelin 3 functions by interacting with another protein, endothelin receptor type B (produced from the EDNRB gene), on the surface of cells. During early development before birth, endothelin 3 and endothelin receptor type B together play an important role in neural crest cells. These cells migrate from the developing spinal cord to specific regions in the embryo, where they give rise to many different types of cells. In particular, endothelin 3 and its receptor are essential for the formation of nerves in the intestine (enteric nerves) and for the production of specialized cells called melanocytes. Melanocytes produce melanin, a pigment that contributes to skin, hair, and eye color. Melanin is also involved in the normal function of the inner ear.

Health Conditions Related to Genetic Changes

Hirschsprung disease

Variants (also known as mutations) in the EDN3 gene have been found to cause Hirschsprung disease, a disorder that causes severe constipation or blockage of the intestine. Although Hirschsprung disease is a feature of another disorder called Waardenburg syndrome type IV, EDN3 gene variants can also cause Hirschsprung disease in people without Waardenburg syndrome. Changes in the EDN3 gene disrupt the normal function of endothelin 3, preventing it from playing its usual role in the development of enteric nerves. As a result, these cells do not form normally during embryonic development. A lack of enteric nerves prevents stool from being moved through the intestine normally, leading to severe constipation or intestinal blockage.

Waardenburg syndrome

Variants in the EDN3 gene have been identified in people with Waardenburg syndrome type IV (also known as Waardenburg-Hirschsprung disease or Waardenburg-Shah syndrome). This type of Waardenburg syndrome is characterized by changes in skin, hair, and eye coloring; hearing loss; and Hirschsprung disease. Because active endothelin 3 is necessary for the formation of enteric nerves and melanocytes, these cell types do not form normally during embryonic development. Missing enteric nerves in certain parts of the intestine cause the signs and symptoms of Hirschsprung disease. A lack of melanocytes affects the coloring of skin, hair, and eyes and causes the hearing loss characteristic of Waardenburg syndrome.

Other Names for This Gene

  • EDN3_HUMAN
  • endothelin 3 precursor
  • ET3
  • HSCR4
  • PPET3
  • Preproendothelin-3
  • RP4-614C15.1
  • WS4B

Frequently Asked Questions

Early warning signs of Hirschsprung disease in newborns often include failure to pass meconium (the first stool) within 24-48 hours after birth, a swollen abdomen, vomiting green or brown bile, and difficulty feeding. In older infants and children, chronic severe constipation that does not respond to typical treatments, poor weight gain, and abdominal distension can be indicators.
The primary treatment for Hirschsprung disease is surgery to remove the section of the colon lacking nerve cells and connect the healthy part of the intestine to the anus (a "pull-through" procedure). In some cases, a temporary colostomy may be needed first. Long-term management often involves careful monitoring of bowel function, dietary adjustments, and sometimes medications to manage constipation or diarrhea after surgery.
Diagnosis usually begins with a physical exam and imaging studies like an abdominal X-ray or barium enema. The definitive diagnosis is made through a rectal biopsy, which shows the absence of nerve cells (ganglion cells) in the affected part of the intestine. Genetic testing for EDN3 gene mutations can then confirm the underlying genetic cause, which is important for understanding inheritance patterns and family risk.
Yes, Hirschsprung disease caused by an EDN3 gene mutation can be inherited. It often follows an autosomal recessive pattern, meaning a child must inherit two copies of the altered gene (one from each parent) to develop the condition. However, it can also show incomplete penetrance, where not everyone with the genetic change develops the disease. Genetic counseling is recommended for affected families to understand the specific inheritance risks.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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