Trait

Abnormal circulating thyroglobulin concentration

Any deviation from the normal concentration of thyroglobulin in the blood circulation.

Also called: Abnormal circulating thyroglobulin level, Abnormal thyroglobulin level
Body system: Laboratory abnormality

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19 genes linked to Abnormal circulating thyroglobulin concentration

Changes in these genes cause rare conditions in which Abnormal circulating thyroglobulin concentration 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
FOXE1forkhead box E1	Very often (80–99%)	In 1 condition
NKX2-1NK2 homeobox 1	Very often (80–99%)	In 1 condition
NKX2-5NK2 homeobox 5	Very often (80–99%)	In 1 condition
PAX8paired box 8	Very often (80–99%)	In 1 condition
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 1 condition
TRHRthyrotropin releasing hormone receptor	Often (30–79%)	In 1 condition
DUOX2dual oxidase 2	Sometimes (5–29%)	In 1 condition
DUOXA2dual oxidase maturation factor 2	Sometimes (5–29%)	In 1 condition
IYDiodotyrosine deiodinase	Sometimes (5–29%)	In 1 condition
SLC5A5solute carrier family 5 member 5	Sometimes (5–29%)	In 1 condition
TGthyroglobulin	Sometimes (5–29%)	In 1 condition
TPOthyroid peroxidase	Sometimes (5–29%)	In 1 condition
HESX1HESX homeobox 1	Not recorded	In 1 condition
LHX3LIM homeobox 3	Not recorded	In 1 condition
LHX4LIM homeobox 4	Not recorded	In 1 condition
POU1F1POU class 1 homeobox 1	Not recorded	In 1 condition
PROP1PROP paired-like homeobox 1	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.

Narrower traits

Broader traits

Blood protein disease

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 2026.10.16-c6eea6bf.

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