Thyroid hormone resistance, generalized, autosomal recessive
Thyroid hormone resistance, generalized, autosomal recessive
Definition
A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum.
Also known as thyroid hormone resistance, autosomal recessive, thyroid hormone resistance, generalized, autosomal recessive — per MONDO
Also identified as
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Craniocervical region | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Craniocervical region | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Neck | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Neck | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Thyroid gland | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Thyroid gland | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |