Traits

Traits linked to ELF4

E74 like ETS transcription factor 4

The Human Phenotype Ontology links 23 traits to ELF4, 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
Chronic constipation	Always
Chronic gastritis	Always
Abdominal pain	Often (30–79%)
Anoperineal fistula	Often (30–79%)
Colitis	Often (30–79%)
Diarrhea	Often (30–79%)
Inflammation of the esophagus	Often (30–79%)
Inflammation of the large intestine	Often (30–79%)
Perianal abscess	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Decreased memory B cell proportion	Always
Reduced total natural killer cell count	Always
High lymphocyte count	Often (30–79%)
Increased number of platelets in blood	Often (30–79%)
Iron deficiency anemia	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Increased circulating interleukin 6 concentration	Always
Recurrent respiratory infections	Always
Skin rash	Always

Laboratory abnormality

Trait	How often it is seen
Elevated circulating C-reactive protein concentration	Always
Episodic fever	Always
High ESR	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Mouth sore	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthritis	Always

Growth abnormality

Trait	How often it is seen
Weight loss	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 ELF4 and how often each is seen. Find out more at hpo.jax.org.

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