Details of Disease

Disease Name

Myotonic dystrophy type 1

dystrophia myotonica type 1; Steinert's disease; dystrophia myotonica 1; myotonic dystrophy 1; Steinert myotonic dystrophy; Steinert syndrome; dystrophia myotonica; DM1; Steinert disease; Myotonic Dystrophy; MD1; Steinert myotonic dystrophy syndrome; DMPK myotonic dystrophy; myotonic dystrophy caused by mutation in DMPK; myotonic dystrophy type 1; myotonic dystrophy of Steinert

Definition

Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.

Disease Hierarchy

DISNBEMX: Myotonic dystrophy

DISQ89HN: Familial hypertrophic cardiomyopathy

DISJC0OX: Myotonic dystrophy type 1

Disease Identifiers

MONDO ID

MONDO_0008056

UMLS CUI

C3250443

OMIM ID

160900

MedGen ID

886881

Orphanet ID

273

SNOMED CT ID

77956009

General Information of Disease (ID: DISJC0OX)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 8 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CLCN1	TTUYAF3	Limited	Biomarker	[1]
LILRB2	TTHC6XU	Limited	Biomarker	[2]
TNNI3	TTNLDK6	Limited	Biomarker	[3]
TRIM24	TT9Q7AE	Limited	Altered Expression	[4]
NEK6	TT8I2M7	moderate	Biomarker	[5]
TNFRSF25	TTDV6BQ	moderate	Genetic Variation	[6]
DMPK	TTZQTY2	Definitive	Autosomal dominant	[7]
MBNL2	TTH9OLG	Definitive	Genetic Variation	[8]
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⏷ Show the Full List of 8 DTT(s)

This Disease Is Related to 38 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
APOC2	OTLINYIQ	Limited	Genetic Variation	[9]
ASB2	OTF9LV7L	Limited	Biomarker	[10]
ATP2A1	OT959A3A	Limited	Altered Expression	[11]
ATRNL1	OTY5JUX2	Limited	Biomarker	[12]
CCT2	OTW1VV4E	Limited	Altered Expression	[13]
CKM	OTME0KO7	Limited	Genetic Variation	[14]
CNBP	OTTGM9NK	Limited	Biomarker	[15]
DDX6	OTKWXVDY	Limited	Altered Expression	[16]
HNRNPC	OT47AK4C	Limited	Biomarker	[17]
HNRNPDL	OTB3BFCV	Limited	Biomarker	[17]
HNRNPH1	OTFRWOLM	Limited	Altered Expression	[18]
HNRNPH2	OTMGP4J7	Limited	Altered Expression	[18]
LDB3	OTGQL1AM	Limited	Genetic Variation	[19]
MBNL1	OTOV7J85	Limited	Altered Expression	[20]
MORF4L1	OTEA6FYJ	Limited	Altered Expression	[21]
MPC1	OT6DYFUO	Limited	Altered Expression	[22]
MYH14	OT1TZEJK	Limited	Altered Expression	[23]
NBEAL2	OTMCAXWR	Limited	Biomarker	[24]
NKX2-5	OTS1SAWM	Limited	Altered Expression	[25]
OXA1L	OTS0BFRD	Limited	Biomarker	[1]
RBFOX1	OTFPKEL7	Limited	Altered Expression	[26]
RSPH6A	OTJ96T2F	Limited	Genetic Variation	[27]
SOCS5	OTN1ABYR	Limited	Altered Expression	[28]
SPEN	OT37A2MD	Limited	Altered Expression	[29]
TADA1	OTV9RKSL	Limited	Genetic Variation	[30]
TMEM119	OT0HFEIC	Limited	Altered Expression	[31]
TRIM33	OT0KS4J7	Limited	Altered Expression	[4]
CELF1	OT6JQ5RS	Strong	Biomarker	[32]
DGCR2	OTEGL17Z	Strong	Genetic Variation	[33]
FZD3	OTIWDN78	Strong	Biomarker	[34]
FZD5	OTXFFY56	Strong	Biomarker	[34]
IFIH1	OTZA2AHA	Strong	Biomarker	[35]
MNX1	OTXP9FH1	Strong	Altered Expression	[34]
PUF60	OTG90DYF	Strong	Biomarker	[36]
RMI2	OTA0HP4S	Strong	Biomarker	[37]
TAC3	OTOJGM38	Strong	Biomarker	[38]
DMPK	OT9XJKG4	Definitive	Autosomal dominant	[7]
SIX5	OTT1I9WY	Definitive	Altered Expression	[39]
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⏷ Show the Full List of 38 DOT(s)

References

1	Muscleblind-Like 1 and Muscleblind-Like 3 Depletion Synergistically Enhances Myotonia by Altering Clc-1 RNA Translation.EBioMedicine. 2015 Jul 31;2(9):1034-47. doi: 10.1016/j.ebiom.2015.07.028. eCollection 2015 Sep.
2	Expanded CTG repeats trigger miRNA alterations in Drosophila that are conserved in myotonic dystrophy type 1 patients.Hum Mol Genet. 2013 Feb 15;22(4):704-16. doi: 10.1093/hmg/dds478. Epub 2012 Nov 8.
3	SERUM cardiac-specific biomarkers and atrial fibrillation in myotonic dystrophy type I.J Cardiovasc Electrophysiol. 2019 Dec;30(12):2914-2919. doi: 10.1111/jce.14211. Epub 2019 Oct 9.
4	Anti-TIF1 antibody and the expression of TIF1 in idiopathic inflammatory myopathies.Int J Rheum Dis. 2019 Feb;22(2):314-320. doi: 10.1111/1756-185X.13424. Epub 2018 Nov 5.
5	De novo myotonic dystrophy mutation in a Nigerian kindred.Am J Hum Genet. 1995 May;56(5):1067-74.
6	Relationship of large multifunctional proteasome 7 gene polymorphism with susceptibility to type 1 diabetes mellitus and DR3 gene.Chin Med J (Engl). 2001 Dec;114(12):1263-6.
7	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.
8	Methylphenidate Attenuates the Cognitive and Mood Alterations Observed in Mbnl2 Knockout Mice and Reduces Microglia Overexpression.Cereb Cortex. 2019 Jul 5;29(7):2978-2997. doi: 10.1093/cercor/bhy164.
9	Prenatal diagnosis for dystrophia myotonica using the polymerase chain reaction.Prenat Diagn. 1991 Jul;11(7):467-70. doi: 10.1002/pd.1970110710.
10	High-throughput analysis of the RNA-induced silencing complex in myotonic dystrophy type 1 patients identifies the dysregulation of miR-29c and its target ASB2.Cell Death Dis. 2018 Jun 28;9(7):729. doi: 10.1038/s41419-018-0769-5.
11	Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1.Hum Mol Genet. 2005 Aug 1;14(15):2189-200. doi: 10.1093/hmg/ddi223. Epub 2005 Jun 22.
12	Alternative splicing of PDLIM3/ALP, for -actinin-associated LIM protein 3, is aberrant in persons with myotonic dystrophy.Biochem Biophys Res Commun. 2011 May 27;409(1):64-9. doi: 10.1016/j.bbrc.2011.04.106. Epub 2011 Apr 28.
13	Chaperonin-containing t-complex protein-1 subunit as a possible biomarker for the phase of glomerular hyperfiltration of diabetic nephropathy.Dis Markers. 2015;2015:548101. doi: 10.1155/2015/548101. Epub 2015 Apr 5.
14	Linkage disequilibrium detected between dystrophia myotonica and APOC2 locus in the Finnish population.Hum Genet. 1990 Oct;85(5):541-5. doi: 10.1007/BF00194234.
15	Similar brain tau pathology in DM2/PROMM and DM1/Steinert disease.Neurology. 2005 Nov 22;65(10):1636-8. doi: 10.1212/01.wnl.0000184585.93864.4e.
16	DDX6 regulates sequestered nuclear CUG-expanded DMPK-mRNA in dystrophia myotonica type 1.Nucleic Acids Res. 2014 Jun;42(11):7186-200. doi: 10.1093/nar/gku352. Epub 2014 May 3.
17	In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts.Nucleic Acids Res. 2001 Jul 1;29(13):2766-71. doi: 10.1093/nar/29.13.2766.
18	Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing.EMBO J. 2006 Sep 20;25(18):4271-83. doi: 10.1038/sj.emboj.7601296. Epub 2006 Aug 31.
19	RNA sequencing reveals abnormal LDB3 splicing in sudden cardiac death.Forensic Sci Int. 2019 Sep;302:109906. doi: 10.1016/j.forsciint.2019.109906. Epub 2019 Jul 26.
20	Recapitulating muscle disease phenotypes with myotonic dystrophy 1 induced pluripotent stem cells: a tool for disease modeling and drug discovery.Dis Model Mech. 2018 Jul 18;11(7):dmm034728. doi: 10.1242/dmm.034728.
21	Expansion of CUG RNA repeats causes stress and inhibition of translation in myotonic dystrophy 1 (DM1) cells.FASEB J. 2010 Oct;24(10):3706-19. doi: 10.1096/fj.09-151159. Epub 2010 May 17.
22	Detection of serum MCP-1 and TGF-1 in polymyositis/dermatomyositis patients and its significance.Eur J Med Res. 2019 Feb 14;24(1):12. doi: 10.1186/s40001-019-0368-7.
23	Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues.Neurobiol Dis. 2012 Jan;45(1):264-71. doi: 10.1016/j.nbd.2011.08.010. Epub 2011 Aug 18.
24	An Unambiguous Delay-And-Multiply Acquisition Scheme for GPS L1C Signals.Sensors (Basel). 2018 May 28;18(6):1739. doi: 10.3390/s18061739.
25	NKX2-5, a modifier of skeletal muscle pathology due to RNA toxicity.Hum Mol Genet. 2015 Jan 1;24(1):251-64. doi: 10.1093/hmg/ddu443. Epub 2014 Aug 28.
26	RBFOX1 cooperates with MBNL1 to control splicing in muscle, including events altered in myotonic dystrophy type 1.PLoS One. 2014 Sep 11;9(9):e107324. doi: 10.1371/journal.pone.0107324. eCollection 2014.
27	A mammalian radial spokehead-like gene, RSHL1, at the myotonic dystrophy-1 locus.Biochem Biophys Res Commun. 2001 Mar 9;281(4):835-41. doi: 10.1006/bbrc.2001.4465.
28	Angpt2 Induces Mesangial Cell Apoptosis through the MicroRNA-33-5p-SOCS5 Loop in Diabetic Nephropathy.Mol Ther Nucleic Acids. 2018 Dec 7;13:543-555. doi: 10.1016/j.omtn.2018.10.003. Epub 2018 Oct 10.
29	RNA steady-state defects in myotonic dystrophy are linked to nuclear exclusion of SHARP.EMBO Rep. 2011 Jul 1;12(7):735-42. doi: 10.1038/embor.2011.86.
30	A study of three polymorphic sites of the ADA gene in children with type 1 diabetes mellitus.J Pediatr Endocrinol Metab. 2010 Mar;23(3):283-90. doi: 10.1515/jpem.2010.23.3.283.
31	Effects of spinal non-viral interleukin-10 gene therapy formulated with d-mannose in neuropathic interleukin-10 deficient mice: Behavioral characterization, mRNA and protein analysis in pain relevant tissues.Brain Behav Immun. 2018 Mar;69:91-112. doi: 10.1016/j.bbi.2017.11.004. Epub 2017 Nov 4.
32	Bruno-3 regulates sarcomere component expression and contributes to muscle phenotypes of myotonic dystrophy type 1.Dis Model Mech. 2018 May 21;11(5):dmm031849. doi: 10.1242/dmm.031849.
33	Screening for comorbid conditions in patients enrolled in the SODA registry: a 2-year observational analysis.Endocrine. 2018 Jul;61(1):105-117. doi: 10.1007/s12020-018-1615-3. Epub 2018 May 16.
34	The synthetic pyrethroid deltamethrin impairs zebrafish (Danio rerio) swim bladder development.Sci Total Environ. 2020 Jan 20;701:134870. doi: 10.1016/j.scitotenv.2019.134870. Epub 2019 Oct 31.
35	Serum YKL-40 level is associated with severity of interstitial lung disease and poor prognosis in dermatomyositis with anti-MDA5 antibody.Clin Rheumatol. 2019 Jun;38(6):1655-1663. doi: 10.1007/s10067-019-04457-w. Epub 2019 Feb 9.
36	The prevalence and clinical significance of anti-PUF60 antibodies in patients with idiopathic inflammatory myopathy.Clin Rheumatol. 2018 Jun;37(6):1573-1580. doi: 10.1007/s10067-018-4031-4. Epub 2018 Mar 15.
37	The major dermatomyositis-specific Mi-2 autoantigen is a presumed helicase involved in transcriptional activation.Arthritis Rheum. 1995 Oct;38(10):1389-99. doi: 10.1002/art.1780381006.
38	Effects of Orchidectomy and Testosterone Replacement on Numbers of Kisspeptin-, Neurokinin B-, and Dynorphin A-Immunoreactive Neurones in the Arcuate Nucleus of the Hypothalamus in Obese and Diabetic Rats.J Neuroendocrinol. 2017 Feb;29(2). doi: 10.1111/jne.12453.
39	Identification of transcriptional targets for Six5: implication for the pathogenesis of myotonic dystrophy type 1.Hum Mol Genet. 2002 May 1;11(9):1045-58. doi: 10.1093/hmg/11.9.1045.