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 ( and the indicated literature.

GPCR GeneDiseaseDI Genes
ADGRV1 (GPR98)Usher syndromeMYO7A, DFNB37, PDZD7
EDNRBHirschsprung diseaseRET
FZD4Exudative vitreoretinopathyLRP5, F5
GNRHRHypogonadotropic hypogonadismPROKR2, FGFR1
KISS1RPituitary stalk interruption syndrome, Kallmann syndromePROKR2, FGFR1, IL17RD
OPN1LWBlue cone monochromacy (Nathans et al., 1993; Katagiri et al., 2018)OPN1MW
PROKR2Pituitary stalk interruption syndrome, Kallmann syndromeFGFR1, GNRHR, KAL1, KISSR1
TACR3Hypogonadotropic hypogonadismNSMF
TSHRMild congenital hypothyroidism (Satoh et al., 2015; Fu et al., 2016; Abe et al., 2018)DUOX2, TG