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

Receptor	Disease
Arginine vasopressin receptor 2	Nephrogenic diabetes insipidus
Melanocortin 2 receptor	Familial glucocorticoid deficiency type 1
Luteinizing hormone receptor	Familial hypogonadism
Follicle-stimulating hormone receptor	Infertility
Gonadotropin-releasing hormone receptor	Hypogonadism
KISS1 and KISS1 receptor	Hypogonadism
NK3 receptor	Hypogonadism
Prokinectin receptor 2	Hypogonadism
Thyrotropin-releasing hormone receptor	Hypothyroidism
TSH receptor	Euthyroid hyperthyroidism/central hypothyroidism
Growth hormone-releasing hormone receptor	Short stature (growth hormone deficiency)
Ghrelin receptor	Short stature
Melanocortin 4 receptor	Extreme obesity
Parathyroid hormone and parathyroid-related protein receptors	Chondrodysplasia
Calcium-sensing receptor	Benign familial hypocalciuric hypercalcemia/neonatal severe primary hyperparathyroidism
Rhodopsins	Retinal degeneration
Thromboxane receptor	Platelet dysfunction
Frizzled/wnt	Vitreoretinopathy
Ocular albinism type 1	Reduced visual acuity/hypopigmentation of retina
Endothelin B receptor	Hirschsprung disease
N-formyl-peptide receptor	Impaired chemotaxis
Androgen receptor	Complete androgen insensitivity syndrome^[1]
ACTH	Familial ACTH resistance^[2]

TSH: thyroid-stimulating hormone; ACTH: corticotropin.

References:

Hughes IA, Davies JD, Bunch TI, et al. Androgen insensitivity syndrome. Lancet 2012; 380:1419.
Meimaridou E, Hughes CR, Kowalczyk J, et al. ACTH resistance: Genes and mechanism. Endocr Dev 2013; 24:57.

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

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