. Author manuscript; available in PMC: 2022 Jan 1.

Published in final edited form as: Biochim Biophys Acta Mol Basis Dis. 2020 Sep 17;1867(1):165973. doi: 10.1016/j.bbadis.2020.165973

Table 2.

Gain-of-function GPCR mutations associated with diverse human diseases.

Receptor	Disease	Clinical features	References
GPR54	Central precocious puberty	Premature secretion of GnRH, early pubertal development	[223]
FSHR	Spontaneous ovarian hyperstimulation	Hydrothorax, ascites, and ovarian enlargement	[281, 282]
TSHR	Familial gestational hyperthyroidism	Severe nausea and vomiting, weight loss, persistent tachycardia, and sweating during gestation	[283]
CaSR	Autosomal dominant hypocalcemia	Decreased serum calcium concentrations and inappropriately low PTH levels, hyperphosphatemia, hypercalciuria	[284, 285]
CaSR	Bartter syndrome type V	Defective renal reabsorption of sodium and chloride, hypokalemia, and increased blood pH	[284, 285]
AVPR2	Nephrogenic syndrome of inappropriate antidiuresis	Hyponatremia, concentrated urine in adults and seizures in infants	[235]
MC2R	Cushing’s syndrome	Hypercortisolism	[269, 286]
PTHR1	Jansen metaphyseal chondrodysplasia	Short-limbed dwarfism, disorganized metaphyseal regions	[287]
Rhodopsin	Congenital night blindness	Insensitivity in dim light without progressive loss of day vision	[288]