Disease

Fragile X Syndrome

About the Disease
Fragile X Syndrome, also known as martin-bell syndrome, is related to fragile x tremor/ataxia syndrome and autism spectrum disorder, and has symptoms including seizures and agitation. An important gene associated with Fragile X Syndrome is FMR1 (Fragile X Messenger Ribonucleoprotein 1), and among its related pathways/superpathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Neuroscience. The drugs Lovastatin and Riluzole have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and prefrontal cortex, and related phenotypes are neurological speech impairment and chronic otitis media

Common Targets
Sodium channel (nonspecified subtype) | Metabotropic glutamate (mGluR) receptor (nonspecified subtype) | GPR119 | PIK3CB | CHRM1 | mTOR complex 1 | KCNC1 | Gamma-Aminobutyric acid type B receptor | GABRA4 | FFAR1 | HTR2B | LIMK1 | GABRG2 | CCNH | TRPV2 | RIC8A | PDE10A | GABRB2 | SUMF1 | Neurotrophic Factor (nonspecified subtype) | LIMK2 | GSK3B | BCHE | SLC6A4 | MKNK1 | HTR2A | NF-kappaB (NFkB) | MECP2 | KCNC2 | PDE5A | RPS6KB1 | NMDA receptor | EIF4E | FXN | TRPA1 | TSPO | GABRA1 | GABRB3 | Eukaryotic Translation Initiation Factor 4A (eIF-4A) | G7099 | mTOR complex 2 | Histone deacetylase (nonspecified subtype) | KCNQ Channels (K(v) 7) (nonspecified subtype) | AFF2 | NCS1 | PTPN5 | MIF | SLC5A1 | CDK12/Cyclin K | GABRA5 | GPR55 | Cannabinoid receptor (nonspecified subtype) | ALOX5 | KCNT1 | GRM1 | CHRM5 | Large Conductance BK(Ca) Potassium Channel (Maxi K+ Channel) (nonspecified subtype) | Voltage-Gated Calcium Channel alpha-2/delta (nonspecified subtype) | GABRD | AMP-activated protein kinase (AMPK) | G2475 | PAK1 | GABRA2 | HDAC6 | CDK7 | CDK7/Cyclin H | PDE4D | DRD2 | Phosphodiesterase IV (PDE4) (nonspecified subtype) | Glutamate Receptor Ionotropic AMPA Receptor | HTR7 | Ribosomal Protein S6 Kinase, 70kDa (p70S6K) (nonspecified subtype) | G142 | GABRA3 | Protein kinase C (nonspecified subtype) | TRPM8 | TRPV1 | GABRG1 | BRD4 | GSK3A | ACHE | HTR1A | GRM5 | G3630 | GABA(A) receptor | FMR1 | MKNK2 | HMGCR | SIGMAR1

疾病靶点研报
Fragile X Syndrome

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