Traits

Traits linked to TSHR

thyroid stimulating hormone receptor

The Human Phenotype Ontology links 69 traits to TSHR, 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
Activating thyroid-stimulating hormone receptor defect	Always
Decreased thyroid-stimulating hormone level	Always
Elevated circulating thyroid-stimulating hormone concentration	Always
Enlarged thyroid gland in neck	Always
Impaired sensitivity to thyroid stimulating hormone	Always
Increased circulating free T3	Always
Increased circulating T4 concentration	Always
Large thyroid	Always
Overactive thyroid	Always
Small thyroid gland	Very often (80–99%)
Thyroid agenesis	Very often (80–99%)
Thyrotoxicosis with diffuse goiter	Very often (80–99%)
Underactive thyroid	Very often (80–99%)
Underactive thyroid gland from birth	Very often (80–99%)
Decreased circulating T4 concentration	Often (30–79%)
Reduced radioactive iodine uptake	Often (30–79%)
Compensated hypothyroidism	Sometimes (5–29%)
Increased radioactive iodine uptake	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Always
More active than typical	Always
Excessive daytime sleepiness	Very often (80–99%)
Hand tremor	Very often (80–99%)
Agitation	Often (30–79%)
Difficulty sleeping	Often (30–79%)
Global developmental delay	Often (30–79%)
Intellectual disability, severe	Often (30–79%)
Lethargy	Often (30–79%)
Motor delay	Often (30–79%)
Decreased reflex response	Sometimes (5–29%)
Delayed speech and language development	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Abdominal bloating	Very often (80–99%)
Constipation	Very often (80–99%)
Diarrhea	Very often (80–99%)
Feeding difficulties	Very often (80–99%)
Jaundice	Very often (80–99%)
Prolonged yellowing of skin in newborn	Often (30–79%)
Umbilical hernia	Often (30–79%)
Feeding difficulties in infancy	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormality of the face	Very often (80–99%)
Abnormally large tongue	Very often (80–99%)
Coarse facial features	Very often (80–99%)
Wide fontanelles	Very often (80–99%)
Facial puffiness	Often (30–79%)
Large posterior fontanelle	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated circulating thyroglobulin concentration	Always
Abnormal circulating thyroglobulin concentration	Very often (80–99%)
Unconjugated hyperbilirubinemia	Often (30–79%)
Neonatal hyperbilirubinemia	Sometimes (5–29%)
Fluid retention	Rarely (1–4%)
Hypothermia	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Advanced bone age	Always
Low muscle tone	Very often (80–99%)
Muscle weakness	Very often (80–99%)
Abnormal shape of end part of bone	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay	Very often (80–99%)
Small for gestational age	Very often (80–99%)
Weight loss	Very often (80–99%)
Short stature	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Elevated heart rate	Always
Slow heartbeats	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Sometimes (5–29%)
Abnormal eye structure	Not recorded

Abnormality of the voice

Trait	How often it is seen
Hoarse cry	Often (30–79%)
Abnormal cry	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Very often (80–99%)
Coldness	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Delayed proximal femoral epiphyseal ossification	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Premature birth	Always

Abnormality of the immune system

Trait	How often it is seen
Autoimmune antibody positivity	Not recorded

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

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