# Meeting Abstracts of the 1st Fragile X International Congress

PMC · DOI: 10.1186/s13023-025-03574-x · 2025-04-24

## Full-text entities

- **Genes:** MSH3 (mutS homolog 3) [NCBI Gene 4437] {aka DUP, FAP4, MRP1}, MAPT (microtubule associated protein tau) [NCBI Gene 4137] {aka DDPAC, FTD1, FTDP-17, MAPTL, MSTD, MTBT1}, FMR1-AS1 (FMR1 antisense RNA 1) [NCBI Gene 100126270] {aka ASFMR1, FMR1-AS, FMR1AS, FMR4, FMR5}, NEFL (neurofilament light chain) [NCBI Gene 4747] {aka CMT1F, CMT2E, CMTDIG, NF-L, NF68, NFL}, FMR1 (fragile X messenger ribonucleoprotein 1) [NCBI Gene 2332] {aka FMRP, FRAXA, POF, POF1}, UPF3A (UPF3A regulator of nonsense mediated mRNA decay) [NCBI Gene 65110] {aka HUPF3A, RENT3A, UPF3}, H3P6 (H3 histone pseudogene 6) [NCBI Gene 440926] {aka H3F3AP4, p13}, UPF1 (UPF1 RNA helicase and ATPase) [NCBI Gene 5976] {aka HUPF1, NORF1, RENT1, UTF, pNORF1, smg-2}, FAN1 (FANCD2 and FANCI associated nuclease 1) [NCBI Gene 22909] {aka KIAA1018, KMIN, MTMR15, hFAN1}, UPF2 (UPF2 regulator of nonsense mediated mRNA decay) [NCBI Gene 26019] {aka HUPF2, RENT2, smg-3}, AMH (anti-Mullerian hormone) [NCBI Gene 268] {aka MIF, MIS}, USE1 (unconventional SNARE in the ER 1) [NCBI Gene 55850] {aka D12, MDS032, P31, SLT1}, GFAP (glial fibrillary acidic protein) [NCBI Gene 2670] {aka ALXDRD}, UPF3B (UPF3B regulator of nonsense mediated mRNA decay) [NCBI Gene 65109] {aka HUPF3B, MRX62, MRX82, MRXS14, RENT3B, UPF3BP1}
- **Diseases:** fatigue (MESH:D005221), Learning Disability (MESH:D007859), falls (MESH:C537863), anxiety and depression disorders (MESH:D001008), emotional disorders (MESH:D009358), FXPAC (MESH:D005600), chronic fatigue (MESH:D015673), genetic condition (MESH:D030342), balance disturbances (MESH:D014832), Sleep disturbances (MESH:D012893), autistic spectrum disorder (MESH:D000067877), DD (MESH:C536170), Cerebral Palsy (MESH:D002547), metabolic syndrome (MESH:D024821), neurodegeneration (MESH:D019636), FXPOI (MESH:D016649), FM (MESH:C537270), X-linked neurodevelopmental disorder (MESH:D038901), ODD (MESH:C563160), Klinefelter syndrome (MESH:D007713), Prader Willi (MESH:D011218), Anxiety (MESH:D001007), neuroinflammation (MESH:D000090862), X-linked dominant disorder (MESH:D040181), ASD (MESH:D001321), dysmorphism (MESH:D057215), ALPS (MESH:D056735), behavioral difficulties (MESH:D001523), Deafness (MESH:D003638), dementia (MESH:D003704), glymphatic system (MESH:D015619), parkinsonism (MESH:D010302), eating disorders (MESH:D001068), glymphatic dysfunction (MESH:D006331), gait ataxia (MESH:D020234), depressive symptoms (MESH:D003866), chronic pain (MESH:D059350), Social anxiety (MESH:D000072861), excessive joint laxity (MESH:D007593), Problems with cognition (MESH:D003072), neuropathy (MESH:D009422), X-chromosome disorders (MESH:D025063), Communication Disorders (MESH:D003147), Sleep apnea (MESH:D012891), developmental disabilities (MESH:D002658), fragile x syndrome (MESH:C562844), malformations (MESH:C564254), neurodevelopmental problems (MESH:D019973), Tremor (MESH:D014202), Rare Diseases (MESH:D035583), ataxia (MESH:D001259), hypertension (MESH:D006973), Fragile X and other intellectual disabilities (MESH:D008607), death (MESH:D003643), Angelman (MESH:D017204), hypotonia (MESH:D009123), toxicity (MESH:D064420), ADHD (MESH:D001289), agitation (MESH:D011595), fibromyalgia (MESH:D005356)
- **Chemicals:** metformin (MESH:D008687), cortisol (MESH:D006854), purine (MESH:C030985), minocycline (MESH:D008911), lipid (MESH:D008055), Glutathione (MESH:D005978), ATP (MESH:D000255), glucose (MESH:D005947), CBD (MESH:D002185), sphingolipid (MESH:D013107), melatonin (MESH:D008550), 1H (-), Creatine (MESH:D003401), sertraline (MESH:D020280), N-acetyl-aspartate (MESH:C000179)
- **Species:** Homo sapiens (human, species) [taxon 9606]

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Source: https://tomesphere.com/paper/PMC12020033