Trait

Small thyroid gland

Clinical name: Thyroid hypoplasia

Developmental hypoplasia of the thyroid gland.

HPO HP:0005990

Also called: Hypoplastic thyroid
Body system: Abnormality of the endocrine system

This page as data

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page <- fromJSON(url)
page$trait$name

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23 genes linked to Small thyroid gland

Changes in these genes cause rare conditions in which Small thyroid gland is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

Gene	How often it is seen	Conditions
PAX8paired box 8	Very often (80–99%)	In 2 conditions
SLC26A4solute carrier family 26 member 4	Very often (80–99%)	In 1 condition
TSHBthyroid stimulating hormone subunit beta	Very often (80–99%)	In 1 condition
TSHRthyroid stimulating hormone receptor	Very often (80–99%)	In 2 conditions
ADAMTSL1ADAMTS like 1	Often (30–79%)	In 1 condition
HESX1HESX homeobox 1	Often (30–79%)	In 1 condition
IRS4insulin receptor substrate 4	Often (30–79%)	In 1 condition
KAT6Blysine acetyltransferase 6B	Often (30–79%)	In 1 condition
LHX3LIM homeobox 3	Often (30–79%)	In 1 condition
LHX4LIM homeobox 4	Often (30–79%)	In 1 condition
POU1F1POU class 1 homeobox 1	Often (30–79%)	In 1 condition
PROP1PROP paired-like homeobox 1	Often (30–79%)	In 1 condition
TRHRthyrotropin releasing hormone receptor	Often (30–79%)	In 1 condition
GLI3GLI family zinc finger 3	Sometimes (5–29%)	In 1 condition
GNB2G protein subunit beta 2	Sometimes (5–29%)	In 1 condition
KMT2Dlysine methyltransferase 2D	Sometimes (5–29%)	In 1 condition
NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL	Sometimes (5–29%)	In 1 condition
POLR1BRNA polymerase I subunit B	Sometimes (5–29%)	In 1 condition
POLR1CRNA polymerase I and III subunit C	Sometimes (5–29%)	In 1 condition
POLR1DRNA polymerase I and III subunit D	Sometimes (5–29%)	In 1 condition
TCOF1treacle ribosome biogenesis factor 1	Sometimes (5–29%)	In 1 condition
DUOX2dual oxidase 2	Rarely (1–4%)	In 1 condition
NKX2-5NK2 homeobox 5	Not recorded	In 1 condition

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.

Broader traits

Aplasia/Hypoplasia of the thyroid gland

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
Data release 2026.10.17-8666dff2.

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