Details of Disease

Disease Name

Friedreich ataxia 1

Friedreich ataxia; Friedreich ataxia type 1; FRDA1; Friedreich ataxia 1

Definition

Any Friedreich ataxia in which the cause of the disease is a mutation in the FXN gene.

Disease Hierarchy

DIS5DV35: Friedreich's ataxia

DIS285GE: Friedreich ataxia 1

Disease Identifiers

MONDO ID

MONDO_0100340

MESH ID

C565561

UMLS CUI

C1856689

MedGen ID

383962

Orphanet ID

95

General Information of Disease (ID: DIS285GE)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GAA	TTLPC70	Limited	Biomarker	[1]
ACO2	TTMTF2P	Strong	Biomarker	[2]
CRTC1	TT4GO0F	Strong	Biomarker	[3]
CTCFL	TTY0RZT	Strong	Genetic Variation	[4]
MYH2	TTBIL13	Strong	Altered Expression	[5]
RORC	TTGV6LY	Strong	Biomarker	[3]
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⏷ Show the Full List of 6 DTT(s)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC17A7	DTNK0FR	Strong	Biomarker	[6]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
FXN	DEXVHDB	Strong	Autosomal recessive	[7]
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This Disease Is Related to 21 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FANCC	OTTIDM3P	Limited	Genetic Variation	[8]
GPAA1	OTWVRR35	Limited	Genetic Variation	[9]
ACTC1	OTJU04B1	Strong	Biomarker	[10]
BCL2L12	OTS6IFZY	Strong	Biomarker	[11]
CCT3	OTL6EOS1	Strong	Genetic Variation	[12]
CHCHD4	OTQ185UW	Strong	Biomarker	[13]
COQ8A	OT1ETSA2	Strong	Genetic Variation	[14]
CPNE3	OTCR3WG2	Strong	Altered Expression	[15]
CTCF	OT8ZB70U	Strong	Altered Expression	[16]
FOXH1	OTEXJ9SL	Strong	Biomarker	[16]
FTMT	OTIUX6XG	Strong	Altered Expression	[17]
FXN	OTE9U09A	Strong	Autosomal recessive	[7]
GABARAP	OTAQUX6E	Strong	Biomarker	[18]
GABRB1	OT4L2SSB	Strong	Altered Expression	[19]
ISCU	OTSW6DQP	Strong	Genetic Variation	[20]
LYRM4	OTK6JCKL	Strong	Genetic Variation	[21]
MLH3	OT91PPBI	Strong	Biomarker	[22]
MYH4	OT4657W4	Strong	Altered Expression	[5]
PHF1	OTW2PSIR	Strong	Genetic Variation	[23]
SETX	OTG3JNOQ	Strong	Biomarker	[24]
TJP2	OTQUY6BV	Strong	Genetic Variation	[25]
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⏷ Show the Full List of 21 DOT(s)

References

1	Stalled DNA Replication Forks at the Endogenous GAA Repeats Drive Repeat Expansion in Friedreich's Ataxia Cells.Cell Rep. 2016 Aug 2;16(5):1218-1227. doi: 10.1016/j.celrep.2016.06.075. Epub 2016 Jul 14.
2	SINEUP non-coding RNAs rescue defective frataxin expression and activity in a cellular model of Friedreich's Ataxia.Nucleic Acids Res. 2019 Nov 18;47(20):10728-10743. doi: 10.1093/nar/gkz798.
3	TORC1 Inhibition by Rapamycin Promotes Antioxidant Defences in a Drosophila Model of Friedreich's Ataxia.PLoS One. 2015 Jul 9;10(7):e0132376. doi: 10.1371/journal.pone.0132376. eCollection 2015.
4	Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus.PLoS One. 2013 Sep 4;8(9):e74956. doi: 10.1371/journal.pone.0074956. eCollection 2013.
5	Ferulic acid regulates muscle fiber type formation through the Sirt1/AMPK signaling pathway.Food Funct. 2019 Jan 22;10(1):259-265. doi: 10.1039/c8fo01902a.
6	Early VGLUT1-specific parallel fiber synaptic deficits and dysregulated cerebellar circuit in the KIKO mouse model of Friedreich ataxia.Dis Model Mech. 2017 Dec 19;10(12):1529-1538. doi: 10.1242/dmm.030049.
7	Clinical and genetic study of Friedreich ataxia in an Australian population. Am J Med Genet. 1999 Nov 19;87(2):168-74. doi: 10.1002/(sici)1096-8628(19991119)87:2<168::aid-ajmg8>3.0.co;2-2.
8	Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs.Am J Hum Genet. 2010 Oct 8;87(4):480-93. doi: 10.1016/j.ajhg.2010.08.016.
9	Left ventricular structural and functional changes in Friedreich ataxia - Relationship with body size, sex, age and genetic severity.PLoS One. 2019 Nov 13;14(11):e0225147. doi: 10.1371/journal.pone.0225147. eCollection 2019.
10	Quantitative Proteomic and Network Analysis of Differentially Expressed Proteins in PBMC of Friedreich's Ataxia (FRDA) Patients.Front Neurosci. 2019 Oct 14;13:1054. doi: 10.3389/fnins.2019.01054. eCollection 2019.
11	Bcl2L12 plays a critical role in the development of intestinal allergy.Immunol Lett. 2018 Nov;203:87-94. doi: 10.1016/j.imlet.2018.09.001. Epub 2018 Sep 5.
12	Non-B DNA conformations formed by long repeating tracts of myotonic dystrophy type 1, myotonic dystrophy type 2, and Friedreich's ataxia genes, not the sequences per se, promote mutagenesis in flanking regions.J Biol Chem. 2006 Aug 25;281(34):24531-43. doi: 10.1074/jbc.M603888200. Epub 2006 Jun 21.
13	Quantitative proteomics in Friedreich's ataxia B-lymphocytes: A valuable approach to decipher the biochemical events responsible for pathogenesis.Biochim Biophys Acta Mol Basis Dis. 2018 Apr;1864(4 Pt A):997-1009. doi: 10.1016/j.bbadis.2018.01.010. Epub 2018 Jan 9.
14	Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.Neurogenetics. 2010 Feb;11(1):1-12. doi: 10.1007/s10048-009-0196-y. Epub 2009 May 14.
15	CPNE3 promotes migration and invasion in non-small cell lung cancer by interacting with RACK1 via FAK signaling activation.J Cancer. 2018 Oct 20;9(22):4215-4222. doi: 10.7150/jca.25872. eCollection 2018.
16	FAST-1 antisense RNA epigenetically alters FXN expression.Sci Rep. 2018 Nov 21;8(1):17217. doi: 10.1038/s41598-018-35639-2.
17	Mitochondrial ferritin limits oxidative damage regulating mitochondrial iron availability: hypothesis for a protective role in Friedreich ataxia.Hum Mol Genet. 2009 Jan 1;18(1):1-11. doi: 10.1093/hmg/ddn308. Epub 2008 Sep 24.
18	Mitofusin-Dependent ER Stress Triggers Glial Dysfunction and Nervous System Degeneration in a Drosophila Model of Friedreich's Ataxia.Front Mol Neurosci. 2018 Mar 6;11:38. doi: 10.3389/fnmol.2018.00038. eCollection 2018.
19	The effect of folic acid on GABA(A)-B 1 receptor subunit. Adv Exp Med Biol. 2013;775:101-9. doi: 10.1007/978-1-4614-6130-2_8.
20	Structure of the human frataxin-bound iron-sulfur cluster assembly complex provides insight into its activation mechanism.Nat Commun. 2019 May 17;10(1):2210. doi: 10.1038/s41467-019-09989-y.
21	Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones.Hum Mol Genet. 2007 Apr 15;16(8):929-41. doi: 10.1093/hmg/ddm038. Epub 2007 Mar 1.
22	GAATTC repeat expansion in human cells is mediated by mismatch repair complex MutL and depends upon the endonuclease domain in MLH3 isoform one.Nucleic Acids Res. 2018 May 4;46(8):4022-4032. doi: 10.1093/nar/gky143.
23	A double-labeling immunohistochemical study of tau exon 10 in Alzheimer's disease, progressive supranuclear palsy and Pick's disease.Acta Neuropathol. 2000 Sep;100(3):235-44. doi: 10.1007/s004019900177.
24	Investigation of recessive ataxia loci in patients with young age of onset.Neuropediatrics. 2007 Aug;38(4):207-9. doi: 10.1055/s-2007-990268.
25	The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13.Am J Hum Genet. 1995 Nov;57(5):1061-7.