Details of Disease | DrugMAP

General Information of Disease (ID: DISKB25R)

Disease Name	Fragile X-associated tremor/ataxia syndrome
Synonyms	FXTAS; fragile X tremor/ataxia syndrome; fragile 10 tremor/ataxia syndrome; FXTAS syndrome; Fragile X tremor/ataxia syndrome, X-linked dominant
Definition	Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISRWZ8R: X-linked cerebellar ataxia DISKB25R: Fragile X-associated tremor/ataxia syndrome
Disease Identifiers	MONDO ID MONDO_0010382 MESH ID C564105 UMLS CUI C1839780 OMIM ID 300623 MedGen ID 333403 Orphanet ID 93256 SNOMED CT ID 448045004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TARDBP	TT9RZ03	Limited	Altered Expression	[1]
C9orf72	TTA4SHR	moderate	Biomarker	[2]
SGCA	TTS9Q5V	Strong	Biomarker	[3]
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This Disease Is Related to 18 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IGFALS	OTTWCZYM	Limited	Genetic Variation	[4]
ATXN10	OTKRDUNN	moderate	Biomarker	[5]
BEAN1	OT0WLH27	moderate	Biomarker	[6]
RAN	OT2TER5M	moderate	Biomarker	[7]
TK2	OTS1V4XB	moderate	Biomarker	[6]
ASPSCR1	OTXTOD10	Strong	Biomarker	[8]
DGCR8	OT62LXE4	Strong	Biomarker	[9]
DIP2B	OTP6KH82	Strong	Altered Expression	[10]
DOCK11	OTFSTN6A	Strong	Biomarker	[11]
EXOSC7	OTCGRKNK	Strong	Altered Expression	[12]
IRF2BPL	OTV8MNT1	Strong	Altered Expression	[12]
NOP56	OTT67SRZ	Strong	Biomarker	[13]
NUFIP2	OTZBZ224	Strong	Genetic Variation	[14]
PPP2R2B	OTSFVC82	Strong	Biomarker	[15]
RAD23A	OTBPAWHX	Strong	Biomarker	[16]
RAD23B	OT0PGOG3	Strong	Biomarker	[16]
TRA2A	OT5NHOO3	Strong	Biomarker	[17]
FMR1	OTWEV0T5	Definitive	X-linked	[18]
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⏷ Show the Full List of 18 DOT(s)

References

1	CGG repeats in RNA modulate expression of TDP-43 in mouse and fly models of fragile X tremor ataxia syndrome.Hum Mol Genet. 2014 Nov 15;23(22):5906-15. doi: 10.1093/hmg/ddu314. Epub 2014 Jun 30.
2	In Vitro Synthesis and RNA Structure Probing of CUG Triplet Repeat RNA.Methods Mol Biol. 2020;2056:187-202. doi: 10.1007/978-1-4939-9784-8_12.
3	Functional status of men with the fragile X premutation, with and without the tremor/ataxia syndrome (FXTAS).Int J Geriatr Psychiatry. 2009 Oct;24(10):1101-9. doi: 10.1002/gps.2231.
4	High-throughput screening yields several small-molecule inhibitors of repeat-associated non-AUG translation.J Biol Chem. 2019 Dec 6;294(49):18624-18638. doi: 10.1074/jbc.RA119.009951. Epub 2019 Oct 23.
5	RNA-mediated neuromuscular disorders.Annu Rev Neurosci. 2006;29:259-77. doi: 10.1146/annurev.neuro.29.051605.113014.
6	CAG repeat RNA as an auxiliary toxic agent in polyglutamine disorders.RNA Biol. 2011 Jul-Aug;8(4):565-71. doi: 10.4161/rna.8.4.15397. Epub 2011 Jul 1.
7	Astroglial-targeted expression of the fragile X CGG repeat premutation in mice yields RAN translation, motor deficits and possible evidence for cell-to-cell propagation of FXTAS pathology.Acta Neuropathol Commun. 2019 Feb 26;7(1):27. doi: 10.1186/s40478-019-0677-7.
8	Gait and Functional Mobility Deficits in Fragile X-Associated Tremor/Ataxia Syndrome.Cerebellum. 2016 Aug;15(4):475-82. doi: 10.1007/s12311-015-0714-4.
9	Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome.Cell Rep. 2013 Mar 28;3(3):869-80. doi: 10.1016/j.celrep.2013.02.004. Epub 2013 Mar 7.
10	CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1. Am J Hum Genet. 2007 Feb;80(2):221-31. doi: 10.1086/510800. Epub 2006 Dec 12.
11	Microsatellite Expansion Diseases: Repeat Toxicity Found in Translation.Neuron. 2017 Jan 18;93(2):249-251. doi: 10.1016/j.neuron.2017.01.001.
12	Blood expression profiles of fragile X premutation carriers identify candidate genes involved in neurodegenerative and infertility phenotypes.Neurobiol Dis. 2014 May;65:43-54. doi: 10.1016/j.nbd.2013.12.020. Epub 2014 Jan 10.
13	Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes.BMC Neurol. 2018 Jan 9;18(1):3. doi: 10.1186/s12883-017-1009-9.
14	Quantitative Evaluation of Toxic Polyglycine Biosynthesis and Aggregation in Cell Models Expressing Expanded CGG Repeats.Front Genet. 2018 Jun 19;9:216. doi: 10.3389/fgene.2018.00216. eCollection 2018.
15	Identification of FXTAS presenting with SCA 12 like phenotype in India.Parkinsonism Relat Disord. 2014 Oct;20(10):1089-93. doi: 10.1016/j.parkreldis.2014.07.001. Epub 2014 Jul 17.
16	The DNA repair-ubiquitin-associated HR23 proteins are constituents of neuronal inclusions in specific neurodegenerative disorders without hampering DNA repair.Neurobiol Dis. 2006 Sep;23(3):708-16. doi: 10.1016/j.nbd.2006.06.005. Epub 2006 Jul 24.
17	An Integrative Study of Protein-RNA Condensates Identifies Scaffolding RNAs and Reveals Players in Fragile X-Associated Tremor/Ataxia Syndrome.Cell Rep. 2018 Dec 18;25(12):3422-3434.e7. doi: 10.1016/j.celrep.2018.11.076.
18	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.