Digenic inheritance of GPCR-caused diseases
GPCRs involved in currently known digenic inherited human diseases are listed together with the comutated gene. Data were taken from the digenic diseases data base DIDA (http://dida.ibsquare.be) and the indicated literature.
| GPCR Gene | Disease | DI Genes |
|---|---|---|
| ADGRV1 (GPR98) | Usher syndrome | MYO7A, DFNB37, PDZD7 |
| EDNRB | Hirschsprung disease | RET |
| FZD4 | Exudative vitreoretinopathy | LRP5, F5 |
| GNRHR | Hypogonadotropic hypogonadism | PROKR2, FGFR1 |
| KISS1R | Pituitary stalk interruption syndrome, Kallmann syndrome | PROKR2, FGFR1, IL17RD |
| OPN1LW | Blue cone monochromacy (Nathans et al., 1993; Katagiri et al., 2018) | OPN1MW |
| PROKR2 | Pituitary stalk interruption syndrome, Kallmann syndrome | FGFR1, GNRHR, KAL1, KISSR1 |
| TACR3 | Hypogonadotropic hypogonadism | NSMF |
| TSHR | Mild congenital hypothyroidism (Satoh et al., 2015; Fu et al., 2016; Abe et al., 2018) | DUOX2, TG |