MS5
MCID: MLT124
MIFTS: 21

Multiple Sclerosis 5 (MS5)

Categories: Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Multiple Sclerosis 5

MalaCards integrated aliases for Multiple Sclerosis 5:

Name: Multiple Sclerosis 5 56 73
Multiple Sclerosis, Susceptibility to, 5 56 29 13 6
Ms5 56 73
Multiple Sclerosis Susceptibility to, Type 5 39

Classifications:



External Ids:

OMIM 56 614810
OMIM Phenotypic Series 56 PS126200
MeSH 43 D009103

Summaries for Multiple Sclerosis 5

UniProtKB/Swiss-Prot : 73 Multiple sclerosis 5: A multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheath, mediated by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors influence susceptibility to the disease.

MalaCards based summary : Multiple Sclerosis 5, also known as multiple sclerosis, susceptibility to, 5, is related to multiple sclerosis and lymphopenia. An important gene associated with Multiple Sclerosis 5 is TNFRSF1A (TNF Receptor Superfamily Member 1A). Affiliated tissues include monocytes, brain and bone.

OMIM : 56 Multiple sclerosis-5 (MS5) is a chronic inflammatory disease of the central nervous system characterized by damage to axonal myelin sheaths and axons, commonly resulting in progressive neurologic disability beginning in early adulthood (summary by Xu et al., 2001). For a discussion of genetic heterogeneity of multiple sclerosis (MS), see MS1 (126200). (614810)

Related Diseases for Multiple Sclerosis 5

Diseases in the Multiple Sclerosis family:

Multiple Sclerosis 2 Multiple Sclerosis 3
Multiple Sclerosis 4 Multiple Sclerosis 5
Secondary Progressive Multiple Sclerosis Primary Progressive Multiple Sclerosis

Diseases related to Multiple Sclerosis 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 multiple sclerosis 10.0
2 lymphopenia 9.7

Symptoms & Phenotypes for Multiple Sclerosis 5

Clinical features from OMIM:

614810

Drugs & Therapeutics for Multiple Sclerosis 5

Search Clinical Trials , NIH Clinical Center for Multiple Sclerosis 5

Genetic Tests for Multiple Sclerosis 5

Genetic tests related to Multiple Sclerosis 5:

# Genetic test Affiliating Genes
1 Multiple Sclerosis, Susceptibility to, 5 29 TNFRSF1A

Anatomical Context for Multiple Sclerosis 5

MalaCards organs/tissues related to Multiple Sclerosis 5:

40
Monocytes, Brain, Bone, Spinal Cord

Publications for Multiple Sclerosis 5

Articles related to Multiple Sclerosis 5:

(show all 33)
# Title Authors PMID Year
1
TNF receptor 1 genetic risk mirrors outcome of anti-TNF therapy in multiple sclerosis. 56 6
22801493 2012
2
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. 56
19525953 2009
3
Linkage analysis in multiple sclerosis of chromosomal regions syntenic to experimental autoimmune disease loci. 56
11436128 2001
4
Matching and accepting assistive technology in multiple sclerosis: A focus group study with people with multiple sclerosis, carers and occupational therapists. 61
27852887 2019
5
Intrathecal Autologous Bone Marrow-Derived Hematopoietic Stem Cell Therapy in Neurological Diseases. 61
30863518 2018
6
[Effectiveness and safety of rituximab for children with autoimmune diseases of the nervous system]. 61
28881516 2017
7
The zoonotic potential of Mycobacterium avium ssp. paratuberculosis: a systematic review and meta-analyses of the evidence. 61
25989710 2015
8
Antibodies to aquaporin 4, myelin-oligodendrocyte glycoprotein, and the glycine receptor α1 subunit in patients with isolated optic neuritis. 61
25506781 2015
9
Safety profile of dalfampridine extended release in multiple sclerosis: 5-year postmarketing experience in the United States. 61
26719727 2015
10
Co-existence of neurofibromatosis type 2 and multiple sclerosis: A case report. 61
25876477 2014
11
Pain is associated with prospective memory dysfunction in multiple sclerosis. 61
25338929 2014
12
An open-label, long-term study examining the safety and tolerability of pregabalin in Japanese patients with central neuropathic pain. 61
25114584 2014
13
Subcutaneous interferon β-1a may protect against cognitive impairment in patients with relapsing-remitting multiple sclerosis: 5-year follow-up of the COGIMUS study. 61
24137499 2013
14
Treatment outcomes and resource use of patients with neurogenic detrusor overactivity receiving botulinum toxin A (BOTOX) therapy in Germany. 61
19693509 2010
15
Long-term effect of early treatment with interferon beta-1b after a first clinical event suggestive of multiple sclerosis: 5-year active treatment extension of the phase 3 BENEFIT trial. 61
19748319 2009
16
Demonstration of spinal cord and nerve root abnormalities by diffusion neurography. 61
18379319 2008
17
Multiple sclerosis: interferon beta for some serious forms. 61
18092425 2007
18
Leukaemia due to mitoxantrone. 61
17724842 2007
19
IM interferon beta-1a delays definite multiple sclerosis 5 years after a first demyelinating event. 61
17000997 2006
20
IM interferon beta-1a delays definite multiple sclerosis 5 years after a first demyelinating event. 61
16436649 2006
21
Brain cytokines and disease. 61
26984574 2002
22
Diagnostic potential of mitochondrial DNA assessment in patients with optic neuropathy. 61
11776061 2000
23
Non-compressive myelopathy: clinical and radiological study. 61
10625902 1999
24
A multi-centre longitudinal study comparing the sensitivity of monthly MRI after standard and triple dose gadolinium-DTPA for monitoring disease activity in multiple sclerosis. Implications for phase II clinical trials. 61
9798753 1998
25
MRI demonstration of Wallerian degeneration in various intracranial lesions and its clinical implications. 61
9077505 1997
26
A controlled study of reliability and validity of MRI findings in neuro-Behçet's disease. 61
8738085 1996
27
[The clinical diagnostic value of studies using magnetic stimulation]. 61
8255340 1993
28
Lack of JC viral genomic sequences in multiple sclerosis brain tissue by polymerase chain reaction. 61
1335225 1992
29
Serum antibodies to HTLV-I in Thai patients with chronic progressive myelopathy, multiple sclerosis, myopathy and in HIV-seropositive intravenous drug abusers. 61
2751768 1989
30
[Anti-neurofilament antibodies in slow infections of the nervous system]. 61
3376639 1988
31
Dysfunction of the detrusor and urethra in multiple sclerosis: the role of drug therapy. 61
6123379 1982
32
Use of the Pulfrich pendulum for detecting abnormal delay in the visual pathway in multiple sclerosis. 61
1148820 1975
33
[Multiple sclerosis. 5. Cytologic changes in the cerebrospinal fluid]. 61
5452189 1970

Variations for Multiple Sclerosis 5

ClinVar genetic disease variations for Multiple Sclerosis 5:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TNFRSF1A NM_001065.4(TNFRSF1A):c.625+10A>GSNV Benign 37038 rs1800693 12:6440009-6440009 12:6330843-6330843

Expression for Multiple Sclerosis 5

Search GEO for disease gene expression data for Multiple Sclerosis 5.

Pathways for Multiple Sclerosis 5

GO Terms for Multiple Sclerosis 5

Sources for Multiple Sclerosis 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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