MCID: PRM108
MIFTS: 49

Primary Progressive Multiple Sclerosis

Categories: Neuronal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Primary Progressive Multiple Sclerosis

MalaCards integrated aliases for Primary Progressive Multiple Sclerosis:

Name: Primary Progressive Multiple Sclerosis 12 55 6 15
Multiple Sclerosis, Primary Progressive 73
Primary-Progressive Ms 12
Ppms 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050784
MeSH 44 D020528
SNOMED-CT 68 428700003
UMLS 73 C0751964

Summaries for Primary Progressive Multiple Sclerosis

Disease Ontology : 12 A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.

MalaCards based summary : Primary Progressive Multiple Sclerosis, also known as multiple sclerosis, primary progressive, is related to asthma and multiple sclerosis. An important gene associated with Primary Progressive Multiple Sclerosis is IFNB1 (Interferon Beta 1), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. The drugs 4-Aminopyridine and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include b cells, brain and spinal cord, and related phenotypes are hematopoietic system and cellular

Related Diseases for Primary Progressive Multiple Sclerosis

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 Primary Progressive Multiple Sclerosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 136)
# Related Disease Score Top Affiliating Genes
1 asthma 28.9 ICAM1 IL10 MMP9 TNF VCAM1
2 multiple sclerosis 27.0 ICAM1 IFNB1 IL10 IL7R MBP MMP9
3 mental retardation, x-linked, syndromic 13 11.9
4 fetal methylmercury syndrome 11.2
5 jamaican vomiting sickness 11.1
6 punctate inner choroidopathy 10.9 IL10 TNF
7 autoimmune inner ear disease 10.9 MMP9 TNF
8 tropical endomyocardial fibrosis 10.8 IL10 TNF
9 microscopic polyangiitis 10.8 IL10 TNF
10 multifocal choroiditis 10.8 IL10 TNF
11 tungiasis 10.8 IL10 TNF
12 endomyocardial fibrosis 10.8 IL10 TNF
13 acute transverse myelitis 10.8 IL10 MMP9
14 transient hypogammaglobulinemia 10.7 IL10 TNF
15 scleritis 10.7 MMP9 TNF
16 marburg hemorrhagic fever 10.7 IFNB1 TNF
17 choroiditis 10.7 IL10 TNF
18 idiopathic achalasia 10.7 IL10 TNF
19 trichuriasis 10.7 IL10 TNF
20 mucocutaneous leishmaniasis 10.7 IL10 TNF
21 clonorchiasis 10.6 IL10 TNF
22 pediatric multiple sclerosis 10.6 MMP9 MOG
23 listeria meningitis 10.6 IFNB1 TNF
24 appendicitis 10.6 IL10 MMP9 TNF
25 bronchiolitis obliterans 10.6 IL10 MMP9 TNF
26 poliomyelitis 10.5 ICAM1 IL10 TNF
27 plasmodium vivax malaria 10.5 ICAM1 IL10 TNF
28 lepromatous leprosy 10.5 ICAM1 IL10 TNF
29 trachoma 10.5 IL10 TNF
30 nose disease 10.5 ICAM1 IL10 TNF
31 meningitis 10.5 IL10 MMP9 TNF
32 kawasaki disease 10.5 IL10 MMP9 TNF
33 parasitic protozoa infectious disease 10.5 ICAM1 IL10 TNF
34 pulmonary edema 10.5 ICAM1 IL10 TNF
35 periodontitis 10.5 IL10 MMP9 TNF
36 allergic contact dermatitis 10.5 ICAM1 IL10 TNF
37 lymphadenitis 10.5 ICAM1 IL10 TNF
38 extrinsic cardiomyopathy 10.5 IFNB1 IL10 TNF
39 alcoholic hepatitis 10.5 ICAM1 IL10 TNF
40 contact dermatitis 10.5 ICAM1 IL10 TNF
41 peritonitis 10.5 ICAM1 IL10 TNF
42 interstitial lung disease 10.5 IL10 MMP9 TNF
43 plasmodium falciparum malaria 10.5 ICAM1 IL10 TNF
44 arthus reaction 10.5 ICAM1 TNF
45 uveitis 10.5 ICAM1 IL10 TNF
46 rubella 10.4 IL10 MOG TNF
47 lymphocytic vasculitis 10.4 ICAM1 VCAM1
48 listeriosis 10.4 IL10 TNF
49 cortical thymoma 10.4 ICAM1 VCAM1
50 mooren's ulcer 10.4 ICAM1 VCAM1

Graphical network of the top 20 diseases related to Primary Progressive Multiple Sclerosis:



Diseases related to Primary Progressive Multiple Sclerosis

Symptoms & Phenotypes for Primary Progressive Multiple Sclerosis

MGI Mouse Phenotypes related to Primary Progressive Multiple Sclerosis:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.22 ICAM1 IL7R MBP IFNB1 MMP9 IL10
2 cellular MP:0005384 10.21 IL10 CSF1R IL7R ICAM1 MBP MMP9
3 homeostasis/metabolism MP:0005376 10.2 CSF1R ICAM1 MBP IFNB1 IL10 S100B
4 immune system MP:0005387 10.17 CSF1R ICAM1 IL7R MBP IFNB1 MMP9
5 growth/size/body region MP:0005378 10.15 IL10 CSF1R ICAM1 MBP MMP9 TNF
6 behavior/neurological MP:0005386 10.13 CSF1R IL10 MBP S100B MMP9 TNF
7 nervous system MP:0003631 9.97 IL10 CSF1R ICAM1 MBP IFNB1 MMP9
8 muscle MP:0005369 9.88 IL10 ICAM1 MMP9 TNF MOG PLP1
9 neoplasm MP:0002006 9.85 IL10 IL7R ICAM1 IFNB1 MMP9 TNF
10 no phenotypic analysis MP:0003012 9.73 IL10 CSF1R IFNB1 TNF OMG VCAM1
11 normal MP:0002873 9.7 IL10 CSF1R IL7R MBP IFNB1 S100B
12 reproductive system MP:0005389 9.5 IL10 CSF1R MBP MMP9 TNF VCAM1
13 vision/eye MP:0005391 9.17 IL10 ICAM1 MBP MMP9 TNF MOG

Drugs & Therapeutics for Primary Progressive Multiple Sclerosis

Drugs for Primary Progressive Multiple Sclerosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 98)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
4-Aminopyridine Approved Phase 4 504-24-5 1727
2
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
3 Anti-Inflammatory Agents Phase 4,Phase 1,Phase 2
4 Hormone Antagonists Phase 4,Phase 2,Phase 1
5 Hormones Phase 4,Phase 2,Phase 1
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 1
7 Potassium Channel Blockers Phase 4
8 Antineoplastic Agents, Hormonal Phase 4
9 glucocorticoids Phase 4
10
rituximab Approved Phase 2, Phase 3,Phase 1 174722-31-7 10201696
11
Morphine Approved, Investigational Phase 3 57-27-2 5288826
12
Hydroxyurea Approved Phase 2, Phase 3 127-07-1 3657
13 Antirheumatic Agents Phase 2, Phase 3,Phase 1
14 Immunosuppressive Agents Phase 3,Phase 2
15 Fingolimod Hydrochloride Phase 3
16 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
17
Natalizumab Approved, Investigational Phase 2 189261-10-7
18
Ibudilast Approved, Investigational Phase 2 50847-11-5 3671
19
Dimethyl fumarate Approved, Investigational Phase 2 624-49-7 5271565 637568
20
Hydroxychloroquine Approved Phase 2 118-42-3 3652
21
Glatiramer Acetate Approved, Investigational Phase 2 147245-92-9 3081884
22
Norethindrone Approved Phase 2 68-22-4 6230
23
Idebenone Approved, Investigational Phase 1, Phase 2,Phase 2 58186-27-9
24
Dronabinol Approved, Illicit Phase 1, Phase 2 1972-08-3 16078
25 Andrographolide Investigational Phase 1, Phase 2 5508-58-7
26 Analgesics Phase 1, Phase 2,Phase 2
27 Analgesics, Non-Narcotic Phase 1, Phase 2,Phase 2
28 Anti-Infective Agents Phase 1, Phase 2,Phase 2
29 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
30 Antiparasitic Agents Phase 1, Phase 2,Phase 2
31 Antiprotozoal Agents Phase 1, Phase 2,Phase 2
32 Antiviral Agents Phase 1, Phase 2
33 Peripheral Nervous System Agents Phase 1, Phase 2,Phase 2
34 Platelet Aggregation Inhibitors Phase 1, Phase 2,Phase 2
35 Anti-Asthmatic Agents Phase 2
36 Autonomic Agents Phase 2
37 Bronchodilator Agents Phase 2
38 Phosphodiesterase Inhibitors Phase 2
39 Respiratory System Agents Phase 2,Phase 1
40 Vasodilator Agents Phase 2,Phase 1
41 Dermatologic Agents Phase 2,Phase 1
42 Antioxidants Phase 1, Phase 2,Phase 2
43 Micronutrients Phase 1, Phase 2,Phase 2,Not Applicable
44 Protective Agents Phase 1, Phase 2,Phase 2
45 Trace Elements Phase 1, Phase 2,Phase 2,Not Applicable
46 Ubiquinone Phase 1, Phase 2,Phase 2
47 Antimalarials Phase 2
48 Adjuvants, Immunologic Phase 2,Not Applicable
49 Contraceptive Agents Phase 2
50 Contraceptives, Oral Phase 2

Interventional clinical trials:

(show all 42)
# Name Status NCT ID Phase Drugs
1 A Double Blind, Randomized, Placebo Controlled, Crossover Study of the Effectiveness of Oral Fampridine in Improving Upper Limb Function in Progressive Multiple Sclerosis Active, not recruiting NCT02208050 Phase 4 Fampridine;Placebo
2 Oral Prednisone Taper Versus Placebo for the Treatment of Acute Relapses in Multiple Sclerosis Terminated NCT01411514 Phase 4 Prednisone;Placebo
3 A Study to Evaluate the Safety and Efficacy of Rituximab in Adults With Primary Progressive Multiple Sclerosis Completed NCT00087529 Phase 2, Phase 3 placebo;rituximab
4 Neurophysiological Study of Sativex in Multiple Sclerosis (MS) Spasticity Completed NCT01538225 Phase 3 Sativex®;Placebo
5 Study to Explore the Mechanism of Action of Ocrelizumab and B-Cell Biology in Participants With Relapsing Multiple Sclerosis (RMS) or Primary Progressive Multiple Sclerosis (PPMS) Recruiting NCT02688985 Phase 3 Ocrelizumab
6 A Phase 3 Study to Compare Efficacy and Safety of Masitinib to Placebo in the Treatment of Patients With Primary Progressive or Relapse-free Secondary Progressive Multiple Sclerosis Recruiting NCT01433497 Phase 2, Phase 3 masitinib;placebo
7 A Study of Ocrelizumab in Participants With Primary Progressive Multiple Sclerosis Active, not recruiting NCT01194570 Phase 3 Ocrelizumab
8 Effect of MD1003 in Chronic Visual Loss Related to Optic Neuritis in Multiple Sclerosis Active, not recruiting NCT02220244 Phase 3 MD1003 100mg capsule
9 This Was an Open-label, Single-arm Extension Study (CFTY720D2306E1) to a Double-blind, Randomized Multicenter, Placebo-controlled, Parallel-group Core Study (CFTY720D2306) in PPMS. Terminated NCT00731692 Phase 3 FTY720;Placebo
10 Hydroxyurea in Primary Progressive Multiple Sclerosis Terminated NCT01103583 Phase 2, Phase 3 Hydroxyurea
11 Efficacy, Safety and Tolerability of Andrographolides Versus Placebo in Patients With Progressive Forms of MS Unknown status NCT02273635 Phase 1, Phase 2 Andrographolides;placebo
12 A Phase 2 Clinical Study in Subjects With Primary Progressive Multiple Sclerosis to Assess the Efficacy, Safety and Tolerability of Two Oral Doses of Laquinimod Either of 0.6 mg/Day or 1.5mg/Day (Experimental Drug) as Compared to Placebo Completed NCT02284568 Phase 2 Laquinimod;Placebo
13 Masitinib in Patients With Primary Progressive Multiple Sclerosis (PPMS) or Relapse-free Secondary Progressive Multiple Sclerosis (SPMS) Completed NCT01450488 Phase 2 masitinib;masitinib
14 Natalizumab Treatment of Progressive Multiple Sclerosis Completed NCT01077466 Phase 2 Natalizumab
15 Safety Study of an Immunomodulating Microparticle to Treat Progressive Multiple Sclerosis Completed NCT01191996 Phase 1, Phase 2
16 Safety, Tolerability and Activity Study of Ibudilast in Subjects With Progressive Multiple Sclerosis Completed NCT01982942 Phase 2 ibudilast;Placebo oral capsule
17 Dimethyl Fumarate Treatment of Primary Progressive Multiple Sclerosis Recruiting NCT02959658 Phase 2 Dimethyl Fumarate;Placebo Oral Capsule
18 Hydroxychloroquine in Primary Progressive Multiple Sclerosis Recruiting NCT02913157 Phase 2 Hydroxychloroquine
19 Safety and Efficacy of Monthly Long-acting IM Injection of 40 mg GA Depot in Subjects With PPMS Recruiting NCT03362294 Phase 2 GA Depot 40mg once monthly
20 Estriol Treatment in Multiple Sclerosis (MS): Effect on Cognition Recruiting NCT01466114 Phase 2 estriol;Norethindrone
21 ACTH in Progressive Forms of MS Recruiting NCT01950234 Phase 2 ACTH;Placebo
22 Double Blind Placebo-Controlled Phase I/II Clinical Trial of Idebenone in Patients With Primary Progressive Multiple Sclerosis (IPPoMS) Active, not recruiting NCT00950248 Phase 1, Phase 2 Idebenone
23 Idebenone for Primary Progressive Multiple Sclerosis Enrolling by invitation NCT01854359 Phase 1, Phase 2 Idebenone
24 Cannabis for Spasticity in Multiple Sclerosis Terminated NCT00682929 Phase 1, Phase 2 Inhaled Cannabis;Oral THC;Oral Placebo;Inhaled placebo
25 Cannabis for Spasticity in Multiple Sclerosis Terminated NCT00260741 Phase 1, Phase 2 Smoked Cannabis
26 Nutrition, Neuromuscular Electrical Stimulation (NMES) and Secondary Progressive Multiple Sclerosis (SPMS) Completed NCT01381354 Phase 1
27 A Phase 1 Trial of Intrathecal Rituximab for Progressive Multiple Sclerosis Patients Completed NCT02253264 Phase 1 Rituximab
28 Phase 1 Study to Evaluate the Safety of ATA188 in Subjects With Progressive and Relapsing-Remitting Multiple Sclerosis Recruiting NCT03283826 Phase 1
29 Comparing Tolerability and Absorption of Racemic and R-lipoic Acid in Progressive Multiple Sclerosis Not yet recruiting NCT03493841 Phase 1 Alpha Lipoic Acid
30 Tear Analysis in the Diagnosis of Multiple Sclerosis Completed NCT02016222 Not Applicable
31 Supported Treadmill Training for Progressive Multiple Sclerosis Completed NCT01339234 Not Applicable
32 Correlation Between Multiple Sclerosis Functional Composite (MSFC) and Expanded Disability Status Scale (EDSS) in Patients With Multiple Sclerosis (MS) in Argentina Completed NCT01080014
33 Wahls Paleo Diet and Progressive Multiple Sclerosis Completed NCT01915433 Not Applicable
34 Video Game-based Therapy for Arm Weakness In Progressive Multiple Sclerosis Recruiting NCT03094364 Not Applicable
35 MS Mosaic: A Longitudinal Research Study on Multiple Sclerosis Recruiting NCT02845635
36 Analysis of the Distribution of Regulatory B Cells in Blood of Multiple Sclerosis Patients Recruiting NCT02789670
37 Serial Collection of Primary Progressive Multiple Sclerosis Participants in the MURDOCK Study Active, not recruiting NCT01776060
38 Mitochondrial Dysfunction and Disease Progression Active, not recruiting NCT02549703
39 Cognition Evolution and MRI Markers in PPMS Patients on 2 Years Not yet recruiting NCT03455582 Not Applicable
40 Upper Extremity Function in Multiple Sclerosis Patients With Advanced Disability Treated With Ocrevus Not yet recruiting NCT03562975 Ocrelizumab
41 Expanded Access Program for Ocrelizumab in Participants With Primary Progressive Multiple Sclerosis No longer available NCT02807285 Ocrelizumab
42 Analyze the Myelin-TRAP as Diagnostic Tool in Multiple Sclerosis Terminated NCT01723631 Not Applicable

Search NIH Clinical Center for Primary Progressive Multiple Sclerosis

Genetic Tests for Primary Progressive Multiple Sclerosis

Anatomical Context for Primary Progressive Multiple Sclerosis

MalaCards organs/tissues related to Primary Progressive Multiple Sclerosis:

41
B Cells, Brain, Spinal Cord, Lymph Node, T Cells

Publications for Primary Progressive Multiple Sclerosis

Articles related to Primary Progressive Multiple Sclerosis:

(show top 50) (show all 98)
# Title Authors Year
1
Healthcare resources utilisation in primary progressive multiple sclerosis. ( 29637449 )
2018
2
Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis. ( 29908077 )
2018
3
Global transcriptome profiling of mild relapsing-remitting versus primary progressive multiple sclerosis. ( 29316044 )
2018
4
Monosodium Urate Crystals Activate the Inflammasome in Primary Progressive Multiple Sclerosis. ( 29780394 )
2018
5
Looking into cognitive impairment in primary-progressive multiple sclerosis. ( 29053884 )
2018
6
Preferential spinal cord volume loss in primary progressive multiple sclerosis. ( 29781383 )
2018
7
Cervical Cord Atrophy and Long-Term Disease Progression in Patients with Primary-Progressive Multiple Sclerosis. ( 29284602 )
2018
8
Metabolomic Profiles for Primary Progressive Multiple Sclerosis Stratification and Disease Course Monitoring. ( 29915533 )
2018
9
Brain atrophy and disability worsening in primary progressive multiple sclerosis: insights from the INFORMS study. ( 29560379 )
2018
10
Emerging drugs for primary progressive multiple sclerosis. ( 29638150 )
2018
11
A systematic review about the epidemiology of primary progressive multiple sclerosis in Latin America and the Caribbean. ( 29501849 )
2018
12
Self-Injurious Behavior Revealing Advanced Primary Progressive Multiple Sclerosis with a Massive Right Temporal Lesion. ( 29629532 )
2018
13
Aberrant expression of I^-catenin in CD4(+) T cells isolated from primary progressive multiple sclerosis patients. ( 28578105 )
2017
14
The MRZ reaction in primary progressive multiple sclerosis. ( 28166789 )
2017
15
CXCL10 and CXCL13 chemokines in patients with relapsing remitting and primary progressive multiple sclerosis. ( 28870573 )
2017
16
A composite measure to explore visual disability in primary progressive multiple sclerosis. ( 28607759 )
2017
17
Smoking does not influence disability accumulation in primary progressive multiple sclerosis. ( 28239937 )
2017
18
Long-term disability progression in primary progressive multiple sclerosis: a 15-year study. ( 29053836 )
2017
19
FDA approves first drug for primary progressive multiple sclerosis. ( 28450720 )
2017
20
Performance of 2010 McDonald criteria and 2016 MAGNIMS guidelines in the diagnosis of primary progressive multiple sclerosis. ( 28939685 )
2017
21
Ocrelizumab versus Placebo in Primary Progressive Multiple Sclerosis. ( 28002688 )
2017
22
Synchronization and variability imbalance underlie cognitive impairment in primary-progressive multiple sclerosis. ( 28429774 )
2017
23
Primary progressive multiple sclerosis presenting with severe predominant cognitive impairment and psychiatric symptoms: A challenging case. ( 28401768 )
2017
24
Primary Progressive Multiple Sclerosis: Putting Together the Puzzle. ( 28620346 )
2017
25
Altered neural mechanisms of cognitive control in patients with primary progressive multiple sclerosis: An effective connectivity study. ( 28205364 )
2017
26
Ocrelizumab: A New B-cell Therapy for Relapsing Remitting and Primary Progressive Multiple Sclerosis. ( 29232960 )
2017
27
A contemporary profile of primary progressive multiple sclerosis participants from the NARCOMS Registry. ( 28524746 )
2017
28
CSF profile in primary progressive multiple sclerosis: Re-exploring the basics. ( 28797088 )
2017
29
Primary Progressive Multiple Sclerosis Evolving From Radiologically Isolated Syndrome. ( 26599831 )
2016
30
CSF1R-related leukoencephalopathy mimicking primary progressive multiple sclerosis. ( 27314966 )
2016
31
Cognitive impairment and magnetic resonance imaging correlates in primary progressive multiple sclerosis. ( 27778334 )
2016
32
Retinal degeneration in primary-progressive multiple sclerosis: A role for cortical lesions? ( 26993116 )
2016
33
Two cases of relapses in primary progressive multiple sclerosis after fingolimod withdrawal. ( 27159986 )
2016
34
Oral fingolimod in primary progressive multiple sclerosis (INFORMS): a phase 3, randomised, double-blind, placebo-controlled trial. ( 26827074 )
2016
35
Anti-inflammatory nutritional intervention in patients with relapsing-remitting and primary-progressive multiple sclerosis: A pilot study. ( 26785711 )
2016
36
A significant decrease in diagnosis of primary progressive multiple sclerosis: A cohort study. ( 27072687 )
2016
37
Primary progressive multiple sclerosis--why we are failing. ( 26827076 )
2016
38
Primary progressive multiple sclerosis: current therapeutic strategies and future perspectives. ( 27813441 )
2016
39
Anti-SPAG16 antibodies in primary progressive multiple sclerosis are associated with an elevated progression index. ( 26706657 )
2016
40
PDE7 inhibitor TC3.6 ameliorates symptomatology in a model of primary progressive multiple sclerosis. ( 25994655 )
2015
41
Melatonin treatment improves primary progressive multiple sclerosis: a case report. ( 25546814 )
2015
42
Brain-Specific Cytoskeletal Damage Markers in Cerebrospinal Fluid: Is There a Common Pattern between Amyotrophic Lateral Sclerosis and Primary Progressive Multiple Sclerosis? ( 26263977 )
2015
43
Evidence for early neurodegeneration in the cervical cord of patients with primary progressive multiple sclerosis. ( 25863355 )
2015
44
Evaluation of Study and Patient Characteristics of Clinical Studies in Primary Progressive Multiple Sclerosis: A Systematic Review. ( 26393519 )
2015
45
Association of Deep Gray Matter Damage With Cortical and Spinal Cord Degeneration in Primary Progressive Multiple Sclerosis. ( 26457955 )
2015
46
Brain atrophy and physical disability in primary progressive multiple sclerosis: A volumetric study. ( 26246109 )
2015
47
Multimodal neurophysiological evaluation of primary progressive multiple sclerosis - An increasingly valid biomarker, with limits. ( 26590670 )
2015
48
Analysis of genes, pathways and networks involved in disease severity and age at onset in primary-progressive multiple sclerosis. ( 25583839 )
2015
49
Paroxetine-Related Adult-Onset Tic Disorder: A Presentation of Primary Progressive Multiple Sclerosis. ( 26222974 )
2015
50
Gray Matter Correlates of Cognitive Performance Differ between Relapsing-Remitting and Primary-Progressive Multiple Sclerosis. ( 26485710 )
2015

Variations for Primary Progressive Multiple Sclerosis

ClinVar genetic disease variations for Primary Progressive Multiple Sclerosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 POLG NM_002693.2(POLG): c.391T> C (p.Tyr131His) single nucleotide variant Uncertain significance rs562847013 GRCh38 Chromosome 15, 89333364: 89333364
2 POLG NM_002693.2(POLG): c.391T> C (p.Tyr131His) single nucleotide variant Uncertain significance rs562847013 GRCh37 Chromosome 15, 89876595: 89876595
3 POLG NM_002693.2(POLG): c.641C> T (p.Ala214Val) single nucleotide variant Uncertain significance rs948866053 GRCh38 Chromosome 15, 89333114: 89333114
4 POLG NM_002693.2(POLG): c.641C> T (p.Ala214Val) single nucleotide variant Uncertain significance rs948866053 GRCh37 Chromosome 15, 89876345: 89876345

Expression for Primary Progressive Multiple Sclerosis

Search GEO for disease gene expression data for Primary Progressive Multiple Sclerosis.

Pathways for Primary Progressive Multiple Sclerosis

Pathways related to Primary Progressive Multiple Sclerosis according to GeneCards Suite gene sharing:

(show all 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.85 CSF1R ICAM1 IFNB1 IL10 IL7R MMP9
2
Show member pathways
13.12 CSF1R ICAM1 IFNB1 IL10 IL7R MMP9
3
Show member pathways
12.46 IFNB1 IL10 IL7R TNF
4
Show member pathways
12.42 ICAM1 IFNB1 MMP9 TNF
5 12.03 IL10 PLP1 TNF
6 11.94 ICAM1 MMP9 TNF VCAM1
7 11.91 CSF1R IFNB1 TNF
8 11.88 ICAM1 MMP9 VCAM1
9 11.85 IL10 IL7R TNF
10 11.79 ICAM1 MMP9 TNF VCAM1
11 11.76 ICAM1 TNF VCAM1
12 11.76 CSF1R IFNB1 IL10 IL7R
13 11.75 CSF1R IL7R TNF
14 11.73 ICAM1 TNF VCAM1
15 11.73 ICAM1 MBP MMP9 OMG TNF
16 11.64 IL10 IL7R TNF
17
Show member pathways
11.47 ICAM1 MMP9 TNF VCAM1
18 11.41 ICAM1 IL10 MMP9 TNF VCAM1
19 11.4 ICAM1 IL10 TNF
20 11.38 ICAM1 MMP9 TNF
21 11.31 ICAM1 IL10 TNF VCAM1
22 11.13 IFNB1 IL10 TNF
23 11.04 ICAM1 MMP9
24 11.01 IFNB1 TNF
25 11 ICAM1 IL10 TNF VCAM1
26 10.97 TNF VCAM1
27 10.89 CSF1R IFNB1 IL10 IL7R TNF
28 10.81 ICAM1 TNF VCAM1
29 10.45 MBP PLP1

GO Terms for Primary Progressive Multiple Sclerosis

Cellular components related to Primary Progressive Multiple Sclerosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.56 ICAM1 IFNB1 IL10 MMP9 OMG S100B
2 external side of plasma membrane GO:0009897 9.02 ICAM1 IL7R MOG TNF VCAM1

Biological processes related to Primary Progressive Multiple Sclerosis according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.88 CSF1R IL10 PLP1 TNF
2 positive regulation of protein phosphorylation GO:0001934 9.78 CSF1R MMP9 TNF
3 regulation of cell shape GO:0008360 9.77 CSF1R ICAM1 S100B
4 cellular response to lipopolysaccharide GO:0071222 9.77 ICAM1 IL10 TNF
5 central nervous system development GO:0007417 9.74 MBP MOG S100B
6 B cell differentiation GO:0030183 9.65 IFNB1 IL10 VCAM1
7 response to glucocorticoid GO:0051384 9.63 IL10 S100B TNF
8 negative regulation of interleukin-6 production GO:0032715 9.62 IL10 TNF
9 extracellular matrix organization GO:0030198 9.62 ICAM1 MMP9 TNF VCAM1
10 leukocyte cell-cell adhesion GO:0007159 9.61 ICAM1 VCAM1
11 macrophage differentiation GO:0030225 9.58 CSF1R MMP9
12 leukocyte tethering or rolling GO:0050901 9.56 TNF VCAM1
13 negative regulation of growth of symbiont in host GO:0044130 9.55 IL10 TNF
14 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.54 IL10 TNF
15 negative regulation of heterotypic cell-cell adhesion GO:0034115 9.52 IL10 MBP
16 axon ensheathment GO:0008366 9.51 MBP PLP1
17 endothelial cell apoptotic process GO:0072577 9.49 IL10 TNF
18 negative regulation of cytokine secretion involved in immune response GO:0002740 9.43 IL10 TNF
19 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.43 IL10 MMP9 TNF
20 positive regulation of leukocyte adhesion to vascular endothelial cell GO:1904996 9.4 ICAM1 TNF
21 membrane to membrane docking GO:0022614 9.37 ICAM1 VCAM1
22 cytokine-mediated signaling pathway GO:0019221 9.23 CSF1R ICAM1 IFNB1 IL10 IL7R MMP9
23 receptor biosynthetic process GO:0032800 9.16 IL10 TNF
24 B cell proliferation GO:0042100 9.13 IFNB1 IL10 IL7R

Molecular functions related to Primary Progressive Multiple Sclerosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of myelin sheath GO:0019911 8.62 MBP PLP1

Sources for Primary Progressive Multiple Sclerosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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