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PPMS
MCID: PRM108
MIFTS: 52

Primary Progressive Multiple Sclerosis (PPMS)

Categories: Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Primary Progressive Multiple Sclerosis

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Immune diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0050784
MeSH 44 D020528
UMLS 73 C0751964
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Summaries for Primary Progressive Multiple Sclerosis

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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 contact dermatitis and allergic contact dermatitis. 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 brain, b cells and spinal cord, and related phenotypes are hematopoietic system and cellular

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Related Diseases for Primary Progressive Multiple Sclerosis

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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 172)
# Related Disease Score Top Affiliating Genes
1 contact dermatitis 30.6 ICAM1 IL10 TNF
2 allergic contact dermatitis 30.1 ICAM1 IL10 TNF
3 mixed connective tissue disease 30.1 HLA-DRB1 IL10 TNF
4 connective tissue disease 30.1 HLA-DRB1 IL10 TNF
5 multiple sclerosis 30.1 HLA-DRB1 ICAM1 IFNB1 IL10 IL7R MBP
6 myasthenia gravis 29.9 IL10 MBP TNF
7 neuromyelitis optica 29.8 HLA-DRB1 MBP MOG
8 asthma 29.6 HLA-DRB1 ICAM1 IL10 MMP9 TNF VCAM1
9 secondary progressive multiple sclerosis 29.5 IFNB1 IL10 MBP MMP9 S100B
10 mental retardation, x-linked, syndromic 13 12.1
11 fetal methylmercury syndrome 11.3
12 jamaican vomiting sickness 11.2
13 root caries 10.3
14 punctate inner choroidopathy 10.3 IL10 TNF
15 autoimmune inner ear disease 10.3 MMP9 TNF
16 tropical endomyocardial fibrosis 10.3 IL10 TNF
17 endomyocardial fibrosis 10.3 IL10 TNF
18 juvenile myasthenia gravis 10.3 HLA-DRB1 IL10
19 multifocal choroiditis 10.3 IL10 TNF
20 choroiditis 10.3 IL10 TNF
21 tungiasis 10.3 IL10 TNF
22 acute transverse myelitis 10.2 IL10 MMP9
23 transient hypogammaglobulinemia 10.2 IL10 TNF
24 scleritis 10.2 MMP9 TNF
25 beryllium disease 10.2 HLA-DRB1 TNF
26 marburg hemorrhagic fever 10.2 IFNB1 TNF
27 cow milk allergy 10.2 IL10 TNF
28 chronic beryllium disease 10.2 HLA-DRB1 TNF
29 dermatitis 10.2
30 trichuriasis 10.2 IL10 TNF
31 anca-associated vasculitis 10.2 HLA-DRB1 TNF
32 idiopathic achalasia 10.2 IL10 TNF
33 meningitis 10.2 IL10 MMP9 TNF
34 mucocutaneous leishmaniasis 10.2 IL10 TNF
35 chronic graft versus host disease 10.2 IL10 TNF
36 appendicitis 10.2 IL10 MMP9 TNF
37 bronchiolitis obliterans 10.2 IL10 MMP9 TNF
38 clonorchiasis 10.2 IL10 TNF
39 narcolepsy 1 10.2 HLA-DRB1 MOG
40 poliomyelitis 10.2 ICAM1 IL10 TNF
41 microscopic polyangiitis 10.2 HLA-DRB1 IL10 TNF
42 uveitis 10.2 ICAM1 IL10 TNF
43 plasmodium vivax malaria 10.2 ICAM1 IL10 TNF
44 lepromatous leprosy 10.2 ICAM1 IL10 TNF
45 autoimmune uveitis 10.2 ICAM1 IL10 TNF
46 hemorrhagic fever 10.2 HLA-DRB1 IL10 TNF
47 nose disease 10.2 ICAM1 IL10 TNF
48 panuveitis 10.2 HLA-DRB1 IL10 TNF
49 rheumatic fever 10.2 HLA-DRB1 IL10 TNF
50 parasitic protozoa infectious disease 10.2 ICAM1 IL10 TNF

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



Diseases related to Primary Progressive Multiple Sclerosis
Sources

Symptoms & Phenotypes for Primary Progressive Multiple Sclerosis

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MGI Mouse Phenotypes related to Primary Progressive Multiple Sclerosis:

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

Drugs & Therapeutics for Primary Progressive Multiple Sclerosis

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

(show top 50) (show all 103)
# 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 Potassium Channel Blockers Phase 4
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 1
6 Hormones Phase 4,Phase 2,Phase 1
7 Hormone Antagonists Phase 4,Phase 2,Phase 1
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 Immunologic Factors Phase 2, Phase 3,Phase 3,Phase 1
15 Immunosuppressive Agents Phase 3,Phase 2
16 Fingolimod Hydrochloride Phase 3
17 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
18
Idebenone Approved, Investigational Phase 1, Phase 2,Phase 2 58186-27-9
19
Natalizumab Approved, Investigational Phase 2 189261-10-7
20
Dimethyl fumarate Approved, Investigational Phase 2 624-49-7 637568 5271565
21
Hydroxychloroquine Approved Phase 2 118-42-3 3652
22
Norethindrone Approved Phase 2 68-22-4 6230
23
Dronabinol Approved, Illicit Phase 1, Phase 2 1972-08-3 16078
24 Andrographolide Investigational Phase 1, Phase 2 5508-58-7
25
Ibudilast Investigational Phase 2 50847-11-5 3671
26 Analgesics, Non-Narcotic Phase 1, Phase 2,Phase 2
27 Antiprotozoal Agents Phase 1, Phase 2,Phase 2
28 Antiviral Agents Phase 1, Phase 2
29 Analgesics Phase 1, Phase 2,Phase 2
30 Peripheral Nervous System Agents Phase 1, Phase 2,Phase 2
31 Anti-Infective Agents Phase 1, Phase 2,Phase 2
32 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
33 Platelet Aggregation Inhibitors Phase 1, Phase 2,Phase 2
34 Andrographis Phase 1, Phase 2
35 Antiparasitic Agents Phase 1, Phase 2,Phase 2
36 Antioxidants Phase 1, Phase 2,Phase 2
37 Micronutrients Phase 1, Phase 2,Phase 2,Not Applicable
38 Ubiquinone Phase 1, Phase 2,Phase 2
39 Trace Elements Phase 1, Phase 2,Phase 2,Not Applicable
40 Protective Agents Phase 1, Phase 2,Phase 2
41 Adjuvants, Immunologic Phase 2,Not Applicable
42 Vasodilator Agents Phase 2,Phase 1
43 Anti-Asthmatic Agents Phase 2
44 Autonomic Agents Phase 2
45 Respiratory System Agents Phase 2,Phase 1
46 Bronchodilator Agents Phase 2
47 Phosphodiesterase Inhibitors Phase 2
48 Dermatologic Agents Phase 2,Phase 1
49 Antimalarials Phase 2
50
Glatiramer Acetate Phase 2 147245-92-9 3081884

Interventional clinical trials:

(show all 47)
# 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 Completed 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 Effect of Ocrelizumab on Brain Innate Immune Microglial Cells Activation in MS Using PET-MRI With 18F-DPA714 Recruiting NCT03691077 Phase 3 Ocrelizumab
7 A Study to Evaluate the Safety of Administering Ocrelizumab Per a Shorter Infusion Protocol in Participants With Primary Progressive Multiple Sclerosis (PPMS) and Relapsing Multiple Sclerosis (RMS) Recruiting NCT03606460 Phase 3 Ocrelizumab Dose 1;Ocrelizumab Dose 2 and Dose 3
8 A Study of Ocrelizumab in Participants With Primary Progressive Multiple Sclerosis Active, not recruiting NCT01194570 Phase 3 Ocrelizumab
9 Efficacy and Safety of Masitinib in the Treatment of Progressive Multiple Sclerosis Active, not recruiting NCT01433497 Phase 3 Masitinib;Placebo
10 Effect of MD1003 in Chronic Visual Loss Related to Optic Neuritis in Multiple Sclerosis Active, not recruiting NCT02220244 Phase 3 MD1003 100mg capsule
11 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
12 Hydroxyurea in Primary Progressive Multiple Sclerosis Terminated NCT01103583 Phase 2, Phase 3 Hydroxyurea
13 Efficacy, Safety and Tolerability of Andrographolides Versus Placebo in Patients With Progressive Forms of MS Unknown status NCT02273635 Phase 1, Phase 2 Andrographolides;placebo
14 Double Blind Placebo-Controlled Phase I/II Clinical Trial of Idebenone in Patients With Primary Progressive Multiple Sclerosis (IPPoMS) Completed NCT00950248 Phase 1, Phase 2 Idebenone
15 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 Placebo;Laquinimod;Placebo
16 Masitinib in Primary Progressive Multiple Sclerosis or Relapse-free Secondary Progressive Multiple Sclerosis Completed NCT01450488 Phase 2 masitinib;masitinib
17 Natalizumab Treatment of Progressive Multiple Sclerosis Completed NCT01077466 Phase 2 Natalizumab
18 Safety Study of an Immunomodulating Microparticle to Treat Progressive Multiple Sclerosis Completed NCT01191996 Phase 1, Phase 2
19 Safety, Tolerability and Activity Study of Ibudilast in Subjects With Progressive Multiple Sclerosis Completed NCT01982942 Phase 2 ibudilast;Placebo oral capsule
20 Dimethyl Fumarate Treatment of Primary Progressive Multiple Sclerosis Recruiting NCT02959658 Phase 2 Dimethyl Fumarate;Placebo Oral Capsule
21 Hydroxychloroquine in Primary Progressive Multiple Sclerosis Recruiting NCT02913157 Phase 2 Hydroxychloroquine
22 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
23 Estriol Treatment in Multiple Sclerosis (MS): Effect on Cognition Recruiting NCT01466114 Phase 2 estriol;Norethindrone
24 ACTH in Progressive Forms of MS Recruiting NCT01950234 Phase 2 ACTH;Placebo
25 Idebenone for Primary Progressive Multiple Sclerosis Active, not recruiting NCT01854359 Phase 1, Phase 2 Idebenone
26 Cannabis for Spasticity in Multiple Sclerosis Terminated NCT00682929 Phase 1, Phase 2 Inhaled Cannabis;Oral THC;Oral Placebo;Inhaled placebo
27 Cannabis for Spasticity in Multiple Sclerosis Terminated NCT00260741 Phase 1, Phase 2 Smoked Cannabis
28 Nutrition, Neuromuscular Electrical Stimulation (NMES) and Secondary Progressive Multiple Sclerosis (SPMS) Completed NCT01381354 Phase 1
29 A Phase 1 Trial of Intrathecal Rituximab for Progressive Multiple Sclerosis Patients Completed NCT02253264 Phase 1 Rituximab
30 Phase 1 Study to Evaluate the Safety of ATA188 in Subjects With Progressive and Relapsing-Remitting Multiple Sclerosis Recruiting NCT03283826 Phase 1
31 Comparing Tolerability and Absorption of Racemic and R-lipoic Acid in Progressive Multiple Sclerosis Recruiting NCT03493841 Phase 1 Alpha Lipoic Acid
32 SIZOMUS Safety of Ixazomib Targeting Plasma Cells in Multiple Sclerosis Not yet recruiting NCT03783416 Phase 1 Ixazomib (NINLARO®) capsules / Matching placebo capsules
33 Tear Analysis in the Diagnosis of Multiple Sclerosis Completed NCT02016222 Not Applicable
34 Supported Treadmill Training for Progressive Multiple Sclerosis Completed NCT01339234 Not Applicable
35 Video Game-based Therapy for Arm Weakness In Progressive Multiple Sclerosis Completed NCT03094364 Not Applicable
36 Correlation Between Multiple Sclerosis Functional Composite (MSFC) and Expanded Disability Status Scale (EDSS) in Patients With Multiple Sclerosis (MS) in Argentina Completed NCT01080014
37 Wahls Paleo Diet and Progressive Multiple Sclerosis Completed NCT01915433 Not Applicable
38 Non-interventional Study of Ocrelizumab in Participants With Relapsing or Primary Progressive Multiple Sclerosis Recruiting NCT03593590 Ocrelizumab
39 Cognition Evolution and MRI Markers in PPMS Patients on 2 Years Recruiting NCT03455582 Not Applicable
40 MS Mosaic: A Longitudinal Research Study on Multiple Sclerosis Recruiting NCT02845635
41 Analysis of the Distribution of Regulatory B Cells in Blood of Multiple Sclerosis Patients Recruiting NCT02789670
42 Upper Extremity Function in Multiple Sclerosis Patients With Advanced Disability Treated With Ocrevus Recruiting NCT03562975 Ocrelizumab
43 Serial Collection of Primary Progressive Multiple Sclerosis Participants in the MURDOCK Study Active, not recruiting NCT01776060
44 Mitochondrial Dysfunction and Disease Progression Active, not recruiting NCT02549703
45 PET Study in Multiple Sclerosis Not yet recruiting NCT03787446
46 Expanded Access Program for Ocrelizumab in Participants With Primary Progressive Multiple Sclerosis No longer available NCT02807285 Ocrelizumab
47 Analyze the Myelin-TRAP as Diagnostic Tool in Multiple Sclerosis Terminated NCT01723631 Not Applicable

Search NIH Clinical Center for Primary Progressive Multiple Sclerosis

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Genetic Tests for Primary Progressive Multiple Sclerosis

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Anatomical Context for Primary Progressive Multiple Sclerosis

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MalaCards organs/tissues related to Primary Progressive Multiple Sclerosis:

41
Brain, B Cells, Spinal Cord, Heart, Lymph Node, Lung, Eye
Sources

Publications for Primary Progressive Multiple Sclerosis

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Articles related to Primary Progressive Multiple Sclerosis:

(show top 50) (show all 246)
# 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
Alemtuzumab-containing reduced intensity conditioning allogenic hematopoietic stem cell transplantation in a case of primary progressive multiple sclerosis. ( 30195202 )
2018
11
Differential Expression of Tissue Transglutaminase Splice Variants in Peripheral Blood Mononuclear Cells of Primary Progressive Multiple Sclerosis Patients. ( 30486475 )
2018
12
Ocrelizumab reduces progression of upper extremity impairment in patients with primary progressive multiple sclerosis: Findings from the phase III randomized ORATORIO trial. ( 30415593 )
2018
13
Anti-inflammatory disease-modifying treatment and disability progression in primary progressive multiple sclerosis: a cohort study. ( 30298572 )
2018
14
Primary progressive multiple sclerosis in Iran: A consensus recommendation for diagnosis and management. ( 30245383 )
2018
15
Evaluation of no evidence of progression or active disease (NEPAD) in patients with primary progressive multiple sclerosis in the ORATORIO trial. ( 30155979 )
2018
16
Possible effects of electroconvulsive therapy on refractory psychosis in primary progressive multiple sclerosis: A case report. ( 30106259 )
2018
17
Disease-Modifying Therapies for Relapsing-Remitting and Primary Progressive Multiple Sclerosis: A Cost-Utility Analysis. ( 30141001 )
2018
18
Consensus recommendations for the diagnosis and treatment of primary progressive multiple sclerosis in Latin America. ( 30096568 )
2018
19
No C9orf72 repeat expansion in patients with primary progressive multiple sclerosis. ( 30099204 )
2018
20
A systematic review about the epidemiology of primary progressive multiple sclerosis in Latin America and the Caribbean. ( 29501849 )
2018
21
Self-Injurious Behavior Revealing Advanced Primary Progressive Multiple Sclerosis with a Massive Right Temporal Lesion. ( 29629532 )
2018
22
Emerging drugs for primary progressive multiple sclerosis. ( 29638150 )
2018
23
Aberrant expression of I^-catenin in CD4(+) T cells isolated from primary progressive multiple sclerosis patients. ( 28578105 )
2017
24
The MRZ reaction in primary progressive multiple sclerosis. ( 28166789 )
2017
25
CXCL10 and CXCL13 chemokines in patients with relapsing remitting and primary progressive multiple sclerosis. ( 28870573 )
2017
26
A composite measure to explore visual disability in primary progressive multiple sclerosis. ( 28607759 )
2017
27
Smoking does not influence disability accumulation in primary progressive multiple sclerosis. ( 28239937 )
2017
28
Long-term disability progression in primary progressive multiple sclerosis: a 15-year study. ( 29053836 )
2017
29
FDA approves first drug for primary progressive multiple sclerosis. ( 28450720 )
2017
30
Performance of 2010 McDonald criteria and 2016 MAGNIMS guidelines in the diagnosis of primary progressive multiple sclerosis. ( 28939685 )
2017
31
Ocrelizumab versus Placebo in Primary Progressive Multiple Sclerosis. ( 28002688 )
2017
32
Synchronization and variability imbalance underlie cognitive impairment in primary-progressive multiple sclerosis. ( 28429774 )
2017
33
Primary progressive multiple sclerosis presenting with severe predominant cognitive impairment and psychiatric symptoms: A challenging case. ( 28401768 )
2017
34
Primary Progressive Multiple Sclerosis: Putting Together the Puzzle. ( 28620346 )
2017
35
Altered neural mechanisms of cognitive control in patients with primary progressive multiple sclerosis: An effective connectivity study. ( 28205364 )
2017
36
Ocrelizumab: A New B-cell Therapy for Relapsing Remitting and Primary Progressive Multiple Sclerosis. ( 29232960 )
2017
37
A contemporary profile of primary progressive multiple sclerosis participants from the NARCOMS Registry. ( 28524746 )
2017
38
CSF profile in primary progressive multiple sclerosis: Re-exploring the basics. ( 28797088 )
2017
39
Treating primary-progressive multiple sclerosis: potential of ocrelizumab and review of B-cell therapies. ( 30050376 )
2017
40
Primary Progressive Multiple Sclerosis Evolving From Radiologically Isolated Syndrome. ( 26599831 )
2016
41
CSF1R-related leukoencephalopathy mimicking primary progressive multiple sclerosis. ( 27314966 )
2016
42
Cognitive impairment and magnetic resonance imaging correlates in primary progressive multiple sclerosis. ( 27778334 )
2016
43
Retinal degeneration in primary-progressive multiple sclerosis: A role for cortical lesions? ( 26993116 )
2016
44
Two cases of relapses in primary progressive multiple sclerosis after fingolimod withdrawal. ( 27159986 )
2016
45
Oral fingolimod in primary progressive multiple sclerosis (INFORMS): a phase 3, randomised, double-blind, placebo-controlled trial. ( 26827074 )
2016
46
Anti-inflammatory nutritional intervention in patients with relapsing-remitting and primary-progressive multiple sclerosis: A pilot study. ( 26785711 )
2016
47
A significant decrease in diagnosis of primary progressive multiple sclerosis: A cohort study. ( 27072687 )
2016
48
Primary progressive multiple sclerosis--why we are failing. ( 26827076 )
2016
49
Primary progressive multiple sclerosis: current therapeutic strategies and future perspectives. ( 27813441 )
2016
50
Anti-SPAG16 antibodies in primary progressive multiple sclerosis are associated with an elevated progression index. ( 26706657 )
2016
Sources

Variations for Primary Progressive Multiple Sclerosis

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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
Sources

Expression for Primary Progressive Multiple Sclerosis

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

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

(show all 34)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 66
Show member pathways
 13.87 CSF1R HLA-DRB1 ICAM1 IFNB1 IL10 IL7R
2
Cytokine Signaling in Immune system 66
Show member pathways
 13.02 CSF1R HLA-DRB1 ICAM1 IFNB1 IL10 IL7R
3
Interferon gamma signaling 66
Show member pathways
 12.43 HLA-DRB1 ICAM1 IFNB1 VCAM1
4
Human T-cell leukemia virus 1 infection 37
12.31 HLA-DRB1 ICAM1 TNF VCAM1
5
JAK-STAT signaling pathway (KEGG) 37
Show member pathways
 12.29 CSF1R IFNB1 IL10 IL7R
6
Epstein-Barr virus infection 37
12.17 HLA-DRB1 ICAM1 IFNB1 TNF
7
Tuberculosis 37
12.09 HLA-DRB1 IFNB1 IL10 TNF
8
Cell adhesion molecules (CAMs) 37
11.99 HLA-DRB1 ICAM1 VCAM1
9
Fluid shear stress and atherosclerosis 37
11.97 ICAM1 MMP9 TNF VCAM1
10
Osteoclast differentiation 37
11.93 CSF1R IFNB1 TNF
11
Adhesion 4
11.91 ICAM1 MMP9 VCAM1
12
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.88 IL10 IL7R TNF
13
Spinal Cord Injury 1
11.88 ICAM1 MBP MMP9 OMG TNF
14
AGE-RAGE signaling pathway in diabetic complications 37
11.81 ICAM1 TNF VCAM1
15
NF-kappa B signaling pathway 37
11.78 ICAM1 TNF VCAM1
16
Hematopoietic cell lineage 37
11.78 CSF1R HLA-DRB1 IL7R TNF
17
Interleukin-4 and 13 signaling 66
11.78 ICAM1 IL10 MMP9 TNF VCAM1
18
Jak-Stat Signaling Pathway (sino) 67
11.76 CSF1R IFNB1 IL10 IL7R
19
Rheumatoid arthritis 37
11.75 HLA-DRB1 ICAM1 TNF
20
Innate Lymphoid Cell Differentiation Pathways 65
11.69 IL10 IL7R TNF
21
Microglia Activation During Neuroinflammation: Microglia Polarization 65
11.62 IL10 MMP9 TNF
22
TNF signaling pathway 37
11.6 ICAM1 IFNB1 MMP9 TNF VCAM1
23
Photodynamic therapy-induced NF-kB survival signaling 1
Show member pathways
 11.56 ICAM1 MMP9 TNF VCAM1
24
Staphylococcus aureus infection 37
11.51 HLA-DRB1 ICAM1 IL10
25
Interleukin-10 signaling 66
11.42 ICAM1 IL10 TNF
26
Malaria 37
11.42 ICAM1 IL10 TNF VCAM1
27
amb2 Integrin signaling 1
11.4 ICAM1 MMP9 TNF
28
African trypanosomiasis 37
11.21 ICAM1 IL10 TNF VCAM1
29
EBV LMP1 signaling 1
11.04 IFNB1 TNF
30
Cellular roles of Anthrax toxin 1
11 TNF VCAM1
31
Dendritic Cells Developmental Lineage Pathway 65
10.89 CSF1R IFNB1 IL10 IL7R TNF
32
LDL Oxidation in Atherogenesis 64
10.86 ICAM1 TNF VCAM1
33
Cytokines and Inflammatory Response 1
10.72 HLA-DRB1 IFNB1 IL10 TNF
34
Glial Cell Differentiation 1
10.5 MBP PLP1
Sources

GO Terms for Primary Progressive Multiple Sclerosis

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.96 CSF1R HLA-DRB1 ICAM1 IL7R MBP MOG
2 extracellular space GO:0005615 9.7 ICAM1 IFNB1 IL10 MMP9 S100B TNF
3 cell surface GO:0009986 9.43 CSF1R HLA-DRB1 ICAM1 MBP TNF VCAM1
4 external side of plasma membrane GO:0009897 9.1 HLA-DRB1 ICAM1 IL7R MOG TNF VCAM1

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.91 CSF1R IL10 PLP1 TNF
2 immune response GO:0006955 9.88 HLA-DRB1 IL10 IL7R MBP TNF
3 regulation of cell shape GO:0008360 9.79 CSF1R ICAM1 S100B
4 central nervous system development GO:0007417 9.77 MBP MOG S100B
5 viral entry into host cell GO:0046718 9.72 HLA-DRB1 ICAM1 MOG
6 extracellular matrix organization GO:0030198 9.71 ICAM1 MMP9 TNF VCAM1
7 B cell differentiation GO:0030183 9.7 IFNB1 IL10 VCAM1
8 interferon-gamma-mediated signaling pathway GO:0060333 9.69 HLA-DRB1 ICAM1 VCAM1
9 response to glucocorticoid GO:0051384 9.67 IL10 S100B TNF
10 positive regulation of synaptic transmission GO:0050806 9.62 S100B TNF
11 leukocyte tethering or rolling GO:0050901 9.61 TNF VCAM1
12 macrophage differentiation GO:0030225 9.6 CSF1R MMP9
13 negative regulation of growth of symbiont in host GO:0044130 9.58 IL10 TNF
14 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.58 IL10 TNF
15 negative regulation of heterotypic cell-cell adhesion GO:0034115 9.57 IL10 MBP
16 positive regulation of chemokine secretion GO:0090197 9.56 CSF1R TNF
17 endothelial cell apoptotic process GO:0072577 9.54 IL10 TNF
18 negative regulation of cytokine secretion involved in immune response GO:0002740 9.46 IL10 TNF
19 positive regulation of leukocyte adhesion to vascular endothelial cell GO:1904996 9.43 ICAM1 TNF
20 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.43 IL10 MMP9 TNF
21 axon ensheathment GO:0008366 9.37 MBP PLP1
22 membrane to membrane docking GO:0022614 9.32 ICAM1 VCAM1
23 cytokine-mediated signaling pathway GO:0019221 9.23 CSF1R ICAM1 IFNB1 IL10 IL7R MMP9
24 receptor biosynthetic process GO:0032800 9.16 IL10 TNF
25 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 8.96 MBP PLP1
2 virus receptor activity GO:0001618 8.8 HLA-DRB1 ICAM1 MOG
Sources

Sources for Primary Progressive Multiple Sclerosis

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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