Diseases caused by "gain-of-function" mutations in receptor genes

Receptor	Disease
Arginine vasopressin receptor 2	Inappropriate diuresis
Luteinizing hormone receptor	Male-limited precocious puberty
Follicle-stimulating hormone receptor	Spontaneous ovarian hyperstimulation syndrome
TSH receptor	Hyperthyroidism/thyroid adenomas
KISS1 and KISS1 receptor	Precocious puberty
Parathyroid hormone and parathyroid related protein receptors	Metaphyseal chondrodysplasia
Alpha-2A adrenergic receptor	Type 2 diabetes mellitus
Calcium-sensing receptor	Hypoparathyroidism
Rhodopsins	Congenital night blindness

TSH: thyroid-stimulating hormone.

Modified from: Vassart G, Costagliola S. G protein-coupled receptors: Mutations and endocrine diseases. Nat Rev Endocrinol 2011; 7:362.

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