Traits

Traits linked to REST

RE1 silencing transcription factor

The Human Phenotype Ontology links 31 traits to REST, by body system: features seen in people with one of the gene's rare conditions.

REST

Abnormality of the genitourinary system

Trait	How often it is seen
Nephroblastoma	Very often (80–99%)
Abnormal kidney location	Sometimes (5–29%)
Abnormal uterus morphology	Sometimes (5–29%)
Horseshoe kidney	Sometimes (5–29%)
Hypospadias	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)
Varicocele	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Abdominal mass	Very often (80–99%)
Abdominal pain	Often (30–79%)
Duplication of renal pelvis	Often (30–79%)
Liver cancer	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Bloody urine	Often (30–79%)
Fever	Sometimes (5–29%)
High blood calcium levels	Sometimes (5–29%)
Small amount of blood in urine	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Increased red blood cells	Sometimes (5–29%)
Low number of red blood cells or hemoglobin	Sometimes (5–29%)
Reduced von Willebrand factor activity	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Gingival fibromatosis	Always
Gum enlargement	Very often (80–99%)

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Sometimes (5–29%)
Swollen lymph nodes	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Lung cancer	Sometimes (5–29%)
Breathing difficulty	Rarely (1–4%)

Abnormal tissue mass

Trait	How often it is seen
Abnormal tissue mass	Very often (80–99%)

Abnormality of limbs

Trait	How often it is seen
Asymmetric overgrowth	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Not recorded

Abnormality of the eye

Trait	How often it is seen
Absent iris	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormality of the sternum	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Malaise	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Weight loss	Sometimes (5–29%)

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

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