Traits

Traits linked to EDNRA

endothelin receptor type A

The Human Phenotype Ontology links 65 traits to EDNRA, by body system: features seen in people with one of the gene's rare conditions.

EDNRA

Abnormality of head or neck

Trait	How often it is seen
Mandibulofacial dysostosis	Always
Cleft palate	Often (30–79%)
Drooping lower lip	Often (30–79%)
Sparse eyelashes	Often (30–79%)
Cleft lower eyelid	Sometimes (5–29%)
Delayed eruption of baby teeth	Sometimes (5–29%)
Dental crowding	Sometimes (5–29%)
Pit in front of the ear	Sometimes (5–29%)
Retraction of the tongue	Sometimes (5–29%)
Sinus disease	Sometimes (5–29%)
Skin tag in front of the ear	Sometimes (5–29%)
Nasal polyposis	Rarely (1–4%)
Decrease in jaw mobility	Not recorded
Decreased size of maxilla	Not recorded
Facial asymmetry	Not recorded
Little lower jaw	Not recorded
Wide nasal bridge	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Inability to properly digest food due to lack of pancreatic digestive enzymes	Very often (80–99%)
Malabsorption	Very often (80–99%)
Abnormality of the liver	Sometimes (5–29%)
Acid reflux	Sometimes (5–29%)
Fat in feces	Sometimes (5–29%)
Meconium ileus	Sometimes (5–29%)
Rectum protrudes through anus	Sometimes (5–29%)
Scar tissue replaces healthy tissue in the liver	Rarely (1–4%)
Nausea	Not recorded
Vomiting	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Very often (80–99%)
Asthma	Sometimes (5–29%)
Recurrent Aspergillus infection	Sometimes (5–29%)
Recurrent chest infections	Sometimes (5–29%)
Recurrent Haemophilus influenzae infection	Sometimes (5–29%)
Recurrent Staphylococcus aureus infection	Sometimes (5–29%)
Nontuberculous mycobacterial pulmonary infection	Rarely (1–4%)
Recurrent Burkholderia cepacia infection	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Conductive deafness	Always
Cupped ear	Often (30–79%)
Narrow ear canal	Often (30–79%)
Small ears	Often (30–79%)
Hearing impairment	Rarely (1–4%)
Low-set ears	Not recorded
Prominent ear	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Anxiety	Sometimes (5–29%)
Depression	Sometimes (5–29%)
Fear of loud sounds	Not recorded
Migraine with aura	Not recorded
Migraine without aura	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Obstructive lung disease	Very often (80–99%)
Permanent enlargement of the airways of the lungs	Very often (80–99%)
Reduced forced expiratory volume in one second	Sometimes (5–29%)
Collapsed lung	Rarely (1–4%)
Coughing up blood	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Absent vas deferens	Very often (80–99%)
Male infertility	Often (30–79%)
Hydroureter	Sometimes (5–29%)
Kidney stone	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Osteopenia	Sometimes (5–29%)
Osteoporosis	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Decreased body mass index	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated sweat chloride	Very often (80–99%)
High liver enzymes	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Aortic valve has two leaflets rather than three	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Extreme sensitivity of the eyes to light	Not recorded

Abnormality of the integument

Trait	How often it is seen
Hair loss	Always

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

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