Disease - Hypothyroidism, congenital, non-goitrous, 1
- DefinitionA non-autoimmune condition characterized by resistance to thyroid- stimulating hormone (TSH) leading to increased levels of plasma TSH and low levels of thyroid hormone. It presents variable severity depending on the completeness of the defect. Most patients are euthyroid and asymptomatic, with a normal sized thyroid gland. Only a subset of patients develop hypothyroidism and present a hypoplastic thyroid gland.
- AcronymCHNG1
- Alternative names
- Keywords
- Cross references
Disclaimer
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.Related UniProtKB entry
Browse 1 entry- Thyrotropin receptor · Gene: TSHR (LGR3) · Homo sapiens (Human) · 764 amino acids · Evidence at protein level · Annotation score: 5/5