Traits

Traits linked to THRB

thyroid hormone receptor beta

The Human Phenotype Ontology links 35 traits to THRB, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the endocrine system

Trait	How often it is seen
Compensated hypothyroidism	Always
Enlarged thyroid gland in neck	Always
Impaired sensitivity to thyroid hormone	Always
Increased circulating free T3	Always
Increased circulating free T4 concentration	Always
Increased circulating T4 concentration	Always
Inappropriately normal thyroid-stimulating hormone level	Very often (80–99%)
Elevated circulating reverse T3 concentration	Often (30–79%)
Elevated circulating thyroid-stimulating hormone concentration	Often (30–79%)
Decreased thyroid-stimulating hormone level	Not recorded
Overactive thyroid	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Attention deficit	Always
Delayed speech and language development	Always
Anxiety	Often (30–79%)
More active than typical	Often (30–79%)
Specific learning disability	Often (30–79%)
Neurodevelopmental delay	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Recurrent middle ear infection	Often (30–79%)
Sensorineural hearing impairment	Sometimes (5–29%)
Hearing impairment	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Anti-thyroid peroxidase antibody positivity	Always
Anti-thyroglobulin antibody positivity	Often (30–79%)
Anti-thyroid-stimulating hormone receptor antibody positivity	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Increased body weight	Always
Mild growth deficiency	Sometimes (5–29%)
Small for gestational age	Not recorded

Laboratory abnormality

Trait	How often it is seen
Diabetes mellitus	Always
Elevated circulating thyroglobulin concentration	Always
Noninsulin-dependent diabetes	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Elevated heart rate	Very often (80–99%)
Palpitations	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Delayed bone maturation	Often (30–79%)
Speckled calcifications in end part of bone	Not recorded

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Not recorded

Constitutional symptom

Trait	How often it is seen
Fatigue	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 THRB and how often each is seen. Find out more at hpo.jax.org.

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