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] |
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