Rett Syndrome

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Retrieved

2022-04-26

Source

Gard

Trials

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Genes

MECP2, CDKL5, GABBR2, EGR2, FOXG1, PTPN1, RHOBTB2, BDNF, CREBBP, CXXC1, PCBP4, PAG1, EIF4E, OPN1LW, DLX5, IGF1, CREB1, SYN1, SLC12A5, NTNG2, NTNG1, EP300, IL1B, TH, RECQL4, UBE3A, MEF2C, FXYD1, HDAC6, TUBA1B, MBD2, MBD1, HDAC8, LEP, IGFBP3, WDR45, POMC, ELANE, CAT, STXBP1, SLC12A2, TET1, SCN1A, TAC1, CHRNA7, AKT1, SHANK3, SCARB1, RUNX2, SMC1A, H4C9, SRY, H4C1, H4C4, STX5, H4C6, H4C12, H4C11, H4C3, H4C8, SRI, STAR, ALDH5A1, ECB2, VEGFA, TCF4, H4C2, UBA1, UBE2I, UBE2V1, TAZ, VIP, GLRA3, WRN, XRCC1, VAMP7, EOS, TRAF6, EPM2A, TTR, NCOR2, H4C5, RAB14, MEG3, PRPF40A, MBD5, ZNF253, PCDH19, TBL1XR1, ZNF436, H4-16, ZNF569, SYT6, DDX53, ARX, MED19, JMJD1C, ZNF763, MALAT1, TMEM189, TMEM189-UBE2V1, MIR146A, H4C15, POTEF, MED18, HOOK1, H4C13, PCDHB1, H4C14, CASK, FBP2, PER2, ST3GAL5, FUBP1, GPR55, ADIPOQ, TMPRSS11D, SOD1, ZBTB18, CTCF, DCTN3, CHP1, PHB2, SIRT2, IQSEC2, ZNF629, AMACR, PRPF6, REM1, SOX3, ABR, SMN1, GDI1, FGF4, FMR1, FOLR1, FOLR2, MTOR, GABBR1, GABRA3, GABRB3, GABRD, GATA4, GDI2, FBP1, GDI2P1, GFAP, GH1, GLRA2, GLUD1, GLUD2, GPM6B, GRIA2, GRIN1, GRIN2B, FGF2, ENO2, GRM7, BLM, ADARB1, AGER, ALB, ALOX15, SLC25A4, APOE, ARSD, ATRX, KIF1A, BCL2, C1QA, EDN2, C1QB, C1QC, CDR2, CHAT, CLU, CSTB, DLX6, DNM1, DYNC1H1, DNMT1, GRM5, GSK3B, SLC18A3, PAFAH1B1, LDLR, MAP2, MET, MT1A, COX1, NCL, NDN, NFKB1, NOS2, NUP98, PCDH7, STMN1, PDE4A, PDK1, PLXNA2, ACTB, PSEN2, PTH, PTPN4, MOK, RREB1, SLC6A8, LBR, L1CAM, GSR, ID4, GYPE, HAGH, HDAC2, HOXA1, HPRT1, HTC2, HTR7, ID1, ID2, ID3, IGF1R, KCNB1, IGF2, IL1A, IL4, CXCL8, IL9, IL10, IL13, IL15, IRAK1, KCNA2, FOXG1-AS1

Drugs

3-Chloro-4-fluorophenyl-[4-fluoro-4-{[(5-methylpyrimidin-2-ylmethyl) amino]methyl}piperidin-1-yl]methanone, Alpha-tocotrienol quinone ( VINCERINONE ), Blarcamesine

3-Chloro-4-fluorophenyl-[4-fluoro-4-{[(5-methylpyrimidin-2-ylmethyl) amino]methyl}piperidin-1-yl]methanone, Alpha-tocotrienol quinone ( VINCERINONE ), Blarcamesine, Cannabidivarin, Desipramine chlorhydrate, Mercaptamine-pantetheine disulfide, Sarizotan, Trofinetide

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Rett syndrome is a progressive, neuro-developmental condition that primarily affects girls. Affected girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental "plateau," and then rapid regression in language and motor skills. Additional signs and symptoms may include repetitive, stereotypic hand movements; fits of screaming and inconsolable crying; autistic features; panic-like attacks; teeth grinding (bruxism); episodic apnea and/or hyperpnea; gait ataxia and apraxia; tremors; seizures; and slowed head growth. Some people have an atypical form of Rett syndrome that may be more mild or more severe. Classic Rett syndrome is most commonly caused by mutations in the MECP2 gene and is usually inherited in an X-linked dominant manner. The vast majority of cases are not inherited from a parent, but are due to a new mutation in the affected person. Treatment mainly focuses on the specific signs and symptoms of the condition.