familial gestational hyperthyroidism

Summary
Definition
A hyperthyroidism that is characterized by promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin and that has_material_basis_in heterozygous mutation in the gene encoding the thyroid-stimulating hormone receptor (TSHR) on chromosome 14q31.
Super Class
autosomal dominant disease hyperthyroidism
Disease Ontology
DOID:0081102
ORDO
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7253 TSHR thyroid stimulating hormone receptor
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P16473 Thyrotropin receptor

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 8, 2025