Disease

Leber Congenital Amaurosis

About the Disease
Leber Plus Disease, also known as leber congenital amaurosis, is related to leber congenital amaurosis 16 and leber congenital amaurosis 12, and has symptoms including ataxia, static tremor and photophobia. An important gene associated with Leber Plus Disease is RPE65 (Retinoid Isomerohydrolase RPE65), and among its related pathways/superpathways are Visual phototransduction and Ciliary landscape. The drugs Curcumin and Bezafibrate have been mentioned in the context of this disorder. Affiliated tissues include Eye, and related phenotypes are abnormality of retinal pigmentation and severely reduced visual acuity

Common Targets
SPATA7 | KCNV2 | TUBB4B | GUCY2D | CTNNA1 | KCNJ13 | MPDZ | NPHP4 | PRPH2 | LRP5 | SNRNP200 | CYP4V2 | BBS2 | CLN3 | RHO | CRX | RPGRIP1 | LCA5 | NMNAT1 | IMPDH1 | PCDH15 | TOPORS | CEP290 | ABCA4 | MERTK | IQCB1 | RD3 | TULP1 | FSCN2 | GUCA1B | EYS | ALMS1 | WDR19 | SLC19A2 | RP1 | TSPAN12 | NPHP3 | RBP1 | GRID2 | GPR179 | USH2A | ND4 | IMPG2 | RIMS1 | RP2 | GDF6 | CABP4 | RDH12 | CDHR1 | BEST1 | RPGR | CRB1 | CNNM4 | CLRN1 | PEX1 | USP45 | CFAP410 | RPE65 | LRAT | BBS4 | IFT140 | BBS1 | CACNA1F | CCT2 | NPHP1 | SLC6A6 | AIPL1 | AHI1 | INPP5E | CNGB3

疾病靶点研报
Leber Congenital Amaurosis

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