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Multiple sclerosis, susceptibility to, 3(MS3)

MedGen UID:
390807
•Concept ID:
C2675477
•
Finding
Synonym: MS3
 
Monarch Initiative: MONDO:0012957
OMIM®: 612595

Definition

Multiple sclerosis-3 (MS3) is a chronic inflammatory disease of the central nervous system (CNS) characterized by multifocal demyelination (summary by Kallio et al., 2009). For a discussion of genetic heterogeneity of multiple sclerosis, see MS1 (126200). [from OMIM]

Term Hierarchy

Professional guidelines

PubMed

Multilocus evaluation of genetic predictors of multiple sclerosis.
Timasheva Y, Nasibullin TR, Tuktarova IA, Erdman VV, Galiullin TR, Zaplakhova OV, Bakhtiiarova KZ
Gene 2022 Jan 30;809:146008. Epub 2021 Oct 14 doi: 10.1016/j.gene.2021.146008. PMID: 34656742
Brain Symptoms of Tuberous Sclerosis Complex: Pathogenesis and Treatment.
Mizuguchi M, Ohsawa M, Kashii H, Sato A
Int J Mol Sci 2021 Jun 22;22(13) doi: 10.3390/ijms22136677. PMID: 34206526Free PMC Article
Insulinoma of genetic aetiology.
Borson-Chazot F, Cardot-Bauters C, Mirallie É, Pattou F; French Endocrine Society
Ann Endocrinol (Paris) 2013 Jul;74(3):200-2. Epub 2013 Jun 13 doi: 10.1016/j.ando.2013.05.006. PMID: 23769271

Curated

UK NICE Guideline NG220, Multiple sclerosis in adults: management, 2022

Recent clinical studies

Etiology

Locus for severity implicates CNS resilience in progression of multiple sclerosis.
International Multiple Sclerosis Genetics Consortium; MultipleMS Consortium
Nature 2023 Jul;619(7969):323-331. Epub 2023 Jun 28 doi: 10.1038/s41586-023-06250-x. PMID: 37380766Free PMC Article
Polygenic risk score association with multiple sclerosis susceptibility and phenotype in Europeans.
Shams H, Shao X, Santaniello A, Kirkish G, Harroud A, Ma Q, Isobe N; University of California San Francisco MS-EPIC Team, Schaefer CA, McCauley JL, Cree BAC, Didonna A, Baranzini SE, Patsopoulos NA, Hauser SL, Barcellos LF, Henry RG, Oksenberg JR
Brain 2023 Feb 13;146(2):645-656. doi: 10.1093/brain/awac092. PMID: 35253861Free PMC Article
Paramagnetic Rim Lesions in Multiple Sclerosis: Comparison of Visualization at 1.5-T and 3-T MRI.
Hemond CC, Reich DS, Dundamadappa SK
AJR Am J Roentgenol 2022 Jul;219(1):120-131. Epub 2021 Dec 1 doi: 10.2214/AJR.21.26777. PMID: 34851712Free PMC Article
The genetics of multiple sclerosis.
Dessa Sadovnick A
Clin Neurol Neurosurg 2002 Jul;104(3):199-202. doi: 10.1016/s0303-8467(02)00038-0. PMID: 12127654
Multiple sclerosis 2001.
Poser CM, Brinar VV
Clin Neurol Neurosurg 2002 Jul;104(3):165-7. doi: 10.1016/s0303-8467(02)00032-x. PMID: 12127648

Diagnosis

ISG15 and ISGylation in Human Diseases.
Mirzalieva O, Juncker M, Schwartzenburg J, Desai S
Cells 2022 Feb 4;11(3) doi: 10.3390/cells11030538. PMID: 35159348Free PMC Article
Susceptibility-weighted Imaging: Technical Essentials and Clinical Neurologic Applications.
Haller S, Haacke EM, Thurnher MM, Barkhof F
Radiology 2021 Apr;299(1):3-26. Epub 2021 Feb 23 doi: 10.1148/radiol.2021203071. PMID: 33620291
Epstein-Barr virus and its association with disease - a review of relevance to general practice.
Fugl A, Andersen CL
BMC Fam Pract 2019 May 14;20(1):62. doi: 10.1186/s12875-019-0954-3. PMID: 31088382Free PMC Article
Multiple sclerosis: genetics, biomarkers, treatments.
Axisa PP, Hafler DA
Curr Opin Neurol 2016 Jun;29(3):345-53. doi: 10.1097/WCO.0000000000000319. PMID: 27058221Free PMC Article
Insulinoma of genetic aetiology.
Borson-Chazot F, Cardot-Bauters C, Mirallie É, Pattou F; French Endocrine Society
Ann Endocrinol (Paris) 2013 Jul;74(3):200-2. Epub 2013 Jun 13 doi: 10.1016/j.ando.2013.05.006. PMID: 23769271

Therapy

Polygenic risk score association with multiple sclerosis susceptibility and phenotype in Europeans.
Shams H, Shao X, Santaniello A, Kirkish G, Harroud A, Ma Q, Isobe N; University of California San Francisco MS-EPIC Team, Schaefer CA, McCauley JL, Cree BAC, Didonna A, Baranzini SE, Patsopoulos NA, Hauser SL, Barcellos LF, Henry RG, Oksenberg JR
Brain 2023 Feb 13;146(2):645-656. doi: 10.1093/brain/awac092. PMID: 35253861Free PMC Article
Onset of various CNS inflammatory demyelination diseases following COVID-19 vaccinations.
Kim KH, Kim SH, Park NY, Hyun JW, Kim HJ
Mult Scler Relat Disord 2022 Dec;68:104141. Epub 2022 Aug 21 doi: 10.1016/j.msard.2022.104141. PMID: 36037757Free PMC Article
Multiple sclerosis: genetics, biomarkers, treatments.
Axisa PP, Hafler DA
Curr Opin Neurol 2016 Jun;29(3):345-53. doi: 10.1097/WCO.0000000000000319. PMID: 27058221Free PMC Article
Multiple sclerosis 2001.
Poser CM, Brinar VV
Clin Neurol Neurosurg 2002 Jul;104(3):165-7. doi: 10.1016/s0303-8467(02)00032-x. PMID: 12127648
Candidate autoantigens in multiple sclerosis.
Schmidt S
Mult Scler 1999 Jun;5(3):147-60. doi: 10.1177/135245859900500303. PMID: 10408714

Prognosis

B cell depletion therapy does not resolve chronic active multiple sclerosis lesions.
Maggi P, Bulcke CV, Pedrini E, Bugli C, Sellimi A, Wynen M, Stölting A, Mullins WA, Kalaitzidis G, Lolli V, Perrotta G, El Sankari S, Duprez T, Li X, Calabresi PA, van Pesch V, Reich DS, Absinta M
EBioMedicine 2023 Aug;94:104701. Epub 2023 Jul 10 doi: 10.1016/j.ebiom.2023.104701. PMID: 37437310Free PMC Article
ISG15 and ISGylation in Human Diseases.
Mirzalieva O, Juncker M, Schwartzenburg J, Desai S
Cells 2022 Feb 4;11(3) doi: 10.3390/cells11030538. PMID: 35159348Free PMC Article
Multiple sclerosis.
Miller E
Adv Exp Med Biol 2012;724:222-38. doi: 10.1007/978-1-4614-0653-2_17. PMID: 22411246
The phakomatoses.
Korf BR
Clin Dermatol 2005 Jan-Feb;23(1):78-84. doi: 10.1016/j.clindermatol.2004.09.007. PMID: 15708292
Multiple sclerosis 2001.
Poser CM, Brinar VV
Clin Neurol Neurosurg 2002 Jul;104(3):165-7. doi: 10.1016/s0303-8467(02)00032-x. PMID: 12127648

Clinical prediction guides

Locus for severity implicates CNS resilience in progression of multiple sclerosis.
International Multiple Sclerosis Genetics Consortium; MultipleMS Consortium
Nature 2023 Jul;619(7969):323-331. Epub 2023 Jun 28 doi: 10.1038/s41586-023-06250-x. PMID: 37380766Free PMC Article
Relationship between paramagnetic rim lesions and slowly expanding lesions in multiple sclerosis.
Calvi A, Clarke MA, Prados F, Chard D, Ciccarelli O, Alberich M, Pareto D, Rodríguez Barranco M, Sastre-Garriga J, Tur C, Rovira A, Barkhof F
Mult Scler 2023 Mar;29(3):352-362. Epub 2022 Dec 14 doi: 10.1177/13524585221141964. PMID: 36515487Free PMC Article
Polygenic risk score association with multiple sclerosis susceptibility and phenotype in Europeans.
Shams H, Shao X, Santaniello A, Kirkish G, Harroud A, Ma Q, Isobe N; University of California San Francisco MS-EPIC Team, Schaefer CA, McCauley JL, Cree BAC, Didonna A, Baranzini SE, Patsopoulos NA, Hauser SL, Barcellos LF, Henry RG, Oksenberg JR
Brain 2023 Feb 13;146(2):645-656. doi: 10.1093/brain/awac092. PMID: 35253861Free PMC Article
Genetics, Epigenetics, and Genomics of Systemic Sclerosis.
Salazar G, Mayes MD
Rheum Dis Clin North Am 2015 Aug;41(3):345-66. Epub 2015 May 20 doi: 10.1016/j.rdc.2015.04.001. PMID: 26210123Free PMC Article
Spectrum and classification of inflammatory demyelinating diseases of the central nervous system.
Kalman B, Lublin FD
Curr Neurol Neurosci Rep 2001 May;1(3):249-56. doi: 10.1007/s11910-001-0027-5. PMID: 11898526

Recent systematic reviews

The prevalence of paramagnetic rim lesions in multiple sclerosis: A systematic review and meta-analysis.
Ng Kee Kwong KC, Mollison D, Meijboom R, York EN, Kampaite A, Thrippleton MJ, Chandran S, Waldman AD
PLoS One 2021;16(9):e0256845. Epub 2021 Sep 8 doi: 10.1371/journal.pone.0256845. PMID: 34495999Free PMC Article
Matrix metalloproteinases (MMPs) family gene polymorphisms and the risk of multiple sclerosis: systematic review and meta-analysis.
Mohammadhosayni M, Khosrojerdi A, Lorian K, Aslani S, Imani D, Razi B, Babaie F, Torkamandi S
BMC Neurol 2020 May 29;20(1):218. doi: 10.1186/s12883-020-01804-2. PMID: 32471473Free PMC Article
Vitamin D receptor genetic polymorphisms and the risk of multiple sclerosis: A systematic review and meta-analysis.
Mohammadi A, Azarnezhad A, Khanbabaei H, Izadpanah E, Abdollahzadeh R, Barreto GE, Sahebkar A
Steroids 2020 Jun;158:108615. Epub 2020 Feb 22 doi: 10.1016/j.steroids.2020.108615. PMID: 32097613
TREM2 Variants and Neurodegenerative Diseases: A Systematic Review and Meta-Analysis.
Zhou SL, Tan CC, Hou XH, Cao XP, Tan L, Yu JT
J Alzheimers Dis 2019;68(3):1171-1184. doi: 10.3233/JAD-181038. PMID: 30883352
Association Between Multiple Sclerosis and Risk of Female Sexual Dysfunction: A Systematic Review and Meta-Analysis.
Zhao S, Wang J, Liu Y, Luo L, Zhu Z, Li E, Zhao Z
J Sex Med 2018 Dec;15(12):1716-1727. Epub 2018 Nov 2 doi: 10.1016/j.jsxm.2018.09.016. PMID: 30393105

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    Clinical resources

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    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2022
      UK NICE Guideline NG220, Multiple sclerosis in adults: management, 2022

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    Reviews

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