Disease

Rett Syndrome

About the Disease
Rett Syndrome, also known as atypical rett syndrome, is related to developmental and epileptic encephalopathy 2 and chromosome 16p13.3 deletion syndrome, proximal, and has symptoms including back pain, cachexia and constipation. An important gene associated with Rett Syndrome is MECP2 (Methyl-CpG Binding Protein 2), and among its related pathways/superpathways are Signal Transduction and ESR-mediated signaling. The drugs Guaifenesin and Dextromethorphan have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and skeletal muscle, and related phenotypes are eeg abnormality and sleep disturbance

Common Targets
FGFR1 | GABA(A) receptor | SMARCA1 | KCNC1 | VASH2 | SIGMAR1 | DRD4 | CHRM1 | RHOBTB2 | GRAMD1A | COL4A1 | Sodium channel (nonspecified subtype) | MIR106A | NOC3L | GPATCH2 | TRPV2 | DYNC1H1 | LAMB1 | DYRK1A | CDKL5 | GABRB2 | G3480 | NTRK1 | PTPN1 | NTRK3 | TCF4 | ZNF620 | MGRN1 | S1PR4 | ATP8B1 | PRKD1 | MECP2 | INSR | CLN6 | TGM2 | PDLIM7 | SLC6A4 | GRIN2A | RS1 | GRM7 | S1PR3 | SEMA6B | GRIA3 | NMDA receptor | MEF2C | TRPA1 | 15-Lipoxygenase (nonspecified subtype) | EIF4G1 | GABRA1 | SNX17 | AFF2 | NBEA | PDE2A | G1786 | GABBR2 | S1PR5 | GABRA5 | SPHK1 | SYNGAP1 | HAP1 | PTPN4 | SLC6A1 | GABRD | AGAP6 | S1PR1 | XIST | GABRA2 | GRIN2B | HDAC6 | BTBD9 | HCN1 | NTRK2 | SLC35F1 | KIF1A | CACNA1I | ALOX15 | KCNQ2 | HTR7 | SCN2A | STXBP1 | KCNA2 | FOXG1 | DRD2 | Glutamate Receptor Ionotropic AMPA Receptor | PPT1 | CHRNA5 | IQSEC2 | GABRG1 | TRPM8 | Protein kinase C (nonspecified subtype) | TRPV1 | GRM5 | ANKRD31 | METTL3 | HTR1A

疾病靶点研报
Rett syndrome

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