PPMS
MCID: PRM108
MIFTS: 36

Primary Progressive Multiple Sclerosis (PPMS) malady

Genetic diseases, Neuronal diseases, Rare diseases categories
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Summaries for Primary Progressive Multiple Sclerosis

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Disease Ontology:8 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 multiple sclerosis and neuromyelitis optica. An important gene associated with Primary Progressive Multiple Sclerosis is MOG (myelin oligodendrocyte glycoprotein), and among its related pathways are Interferon Signaling and Jak-STAT signaling pathway. The compounds 2,3-cyclic nucleotide and herbimycin a have been mentioned in the context of this disorder. Affiliated tissues include lymph node, and related mouse phenotypes are immune system and hematopoietic system.

Aliases & Classifications for Primary Progressive Multiple Sclerosis

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Sources:
8Disease Ontology, 44Novoseek, 62UMLS
See all sources

Primary Progressive Multiple Sclerosis, Aliases & Descriptions:

Name: Primary Progressive Multiple Sclerosis 8 44
Multiple Sclerosis, Primary Progressive 62
 
Primary-Progressive Ms 8
Ppms 8


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


External Ids:

Disease Ontology8 DOID:0050784

Related Diseases for Primary Progressive Multiple Sclerosis

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



Diseases related to primary progressive multiple sclerosis

Symptoms for Primary Progressive Multiple Sclerosis

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Drugs & Therapeutics for Primary Progressive Multiple Sclerosis

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Drug clinical trials:

Search ClinicalTrials for Primary Progressive Multiple Sclerosis

Search NIH Clinical Center for Primary Progressive Multiple Sclerosis

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:

32
Lymph node

Animal Models for Primary Progressive Multiple Sclerosis or affiliated genes

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MGI Mouse Phenotypes related to Primary Progressive Multiple Sclerosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.4PLP1, IL7R, IFNB1, MOG
2MP:00053978.1PLP1, IL7R, IFNB1, MOG

Publications for Primary Progressive Multiple Sclerosis

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Articles related to Primary Progressive Multiple Sclerosis:

(show all 43)
idTitleAuthorsYear
1
Modelling the natural history of primary progressive multiple sclerosis. (24828900)
2014
2
Levels of soluble TNF-RII are increased in serum of patients with primary progressive multiple sclerosis. (24794503)
2014
3
Efficient generation of myelinating oligodendrocytes from primary progressive multiple sclerosis patients by induced pluripotent stem cells. (25254339)
2014
4
Genetics of primary progressive multiple sclerosis. (24507520)
2014
5
Electrophysiological markers and predictors of the disease course in primary progressive multiple sclerosis. (23756680)
2014
6
Retraction notice: Language abilities of patients with primary progressive multiple sclerosis: A preliminary group and case investigation. (24766406)
2014
7
Validating predictors of disease progression in a large cohort of primary-progressive multiple sclerosis based on a systematic literature review. (24651401)
2014
8
Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis. (25311247)
2014
9
Immunoglobulin M oligoclonal bands: biomarker of targetable inflammation in primary progressive multiple sclerosis. (24909126)
2014
10
Temporal and spatial evolution of grey matter atrophy in primary progressive multiple sclerosis. (24099844)
2014
11
Epstein-barr virus in the central nervous system and cervical lymph node of a patient with primary progressive multiple sclerosis. (24918642)
2014
12
Adult-onset vanishing white matter disease as differential diagnosis of primary progressive multiple sclerosis: A case report. (25135182)
2014
13
Opposite roles of NMDA receptors in relapsing and primary progressive multiple sclerosis. (23840674)
2013
14
Treatment of primary progressive multiple sclerosis. (23709215)
2013
15
Characteristic cerebrospinal fluid cytokine/chemokine profiles in neuromyelitis optica, relapsing remitting or primary progressive multiple sclerosis. (23637915)
2013
16
Possible new modifications for the McDonald 2010 criteria for the diagnosis of primary progressive multiple sclerosis. (23818017)
2013
17
A new model for primary-progressive multiple sclerosis? (24036552)
2013
18
Decreased circulating miRNA levels in patients with primary progressive multiple sclerosis. (24277735)
2013
19
A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masquerading as primary progressive multiple sclerosis. (23698128)
2013
20
A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis. (24034409)
2013
21
No association between genetic polymorphism at codon 129 of the prion protein gene and primary progressive multiple sclerosis. (21320996)
2011
22
Heterozygous X-linked adrenoleukodystrophy-associated myelopathy mimicking primary progressive multiple sclerosis. (20803344)
2011
23
Lack of replication of KIF1B gene in an Italian primary progressive multiple sclerosis cohort. (20067515)
2010
24
Progranulin gene variability increases the risk for primary progressive multiple sclerosis in males. (20463744)
2010
25
Genetic association of CASP8 polymorphisms with primary progressive multiple sclerosis. (20363033)
2010
26
APOE epsilon status in Hungarian patients with primary progressive multiple sclerosis. (21110240)
2010
27
Does the DRB1*1501 allele confer more severe and faster progression in primary progressive multiple sclerosis patients? HLA in primary progressive multiple sclerosis. (19616314)
2009
28
Tumour necrosis factor alpha gene (TNF-alpha) -376 polymorphism in Hungarian patients with primary progressive multiple sclerosis. (19201038)
2009
29
MxA protein--an interferon beta biomarker in primary progressive multiple sclerosis patients. (18549400)
2008
30
Cell surface adhesion molecules and cytokine profiles in primary progressive multiple sclerosis. (17613596)
2007
31
Interferon-beta1b treatment modulates cytokines in patients with primary progressive multiple sclerosis. (17083335)
2006
32
Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation. (16130097)
2005
33
Gene expression and genotyping studies implicate the interleukin 7 receptor in the pathogenesis of primary progressive multiple sclerosis. (16075257)
2005
34
Autoantibody synthesis in primary progressive multiple sclerosis patients treated with interferon beta-1b. (15645350)
2004
35
Decreased MMP-9 production in primary progressive multiple sclerosis patients. (15327032)
2004
36
Immunologic factors in primary progressive multiple sclerosis. (15218805)
2004
37
Serum gelatinase B/MMP-9 in primary progressive multiple sclerosis patients treated with interferon-beta-1a. (14504963)
2003
38
Interferon-beta-1 b decreased matrix metalloproteinase-9 serum levels in primary progressive multiple sclerosis. (14586607)
2003
39
CTLA4 exon 1 dimorphism is associated with primary progressive multiple sclerosis. (12458055)
2002
40
Frequency of functional interleukin-10 promoter polymorphism is different between relapse-onset and primary progressive multiple sclerosis. (12039409)
2002
41
Monitoring disease activity and progression in primary progressive multiple sclerosis using MRI: sub-voxel registration to identify lesion changes and to detect cerebral atrophy. (11985382)
2002
42
Detailed analysis of the oligodendrocyte myelin glycoprotein gene in four patients with neurofibromatosis 1 and primary progressive multiple sclerosis. (10766898)
2000
43
Immunological profile of patients with primary progressive multiple sclerosis. Expression of adhesion molecules. (10581223)
1999

Variations for Primary Progressive Multiple Sclerosis

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Expression for genes affiliated with Primary Progressive Multiple Sclerosis

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Expression patterns in normal tissues for genes affiliated with Primary Progressive Multiple Sclerosis

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

Pathways for genes affiliated with Primary Progressive Multiple Sclerosis

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Pathways related to Primary Progressive Multiple Sclerosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4IL7R, IFNB1
2
Show member pathways
Type III interferon signaling37
9.4IL7R, IFNB1

Compounds for genes affiliated with Primary Progressive Multiple Sclerosis

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Compounds related to Primary Progressive Multiple Sclerosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
12,3-cyclic nucleotide449.5PLP1, MOG
2herbimycin a44 6110.4IFNB1, IL7R
3acetylcholine44 50 28 24 1113.4PLP1, MOG
4methionine449.0PLP1, IFNB1
5glatiramer acetate44 1110.0PLP1, IFNB1, MOG
6silver449.0PLP1, IFNB1, MOG
7lipid448.8PLP1, IFNB1, MOG

GO Terms for genes affiliated with Primary Progressive Multiple Sclerosis

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Cellular components related to Primary Progressive Multiple Sclerosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1plasma membraneGO:0058868.1PLP1, IL7R, MOG, OMG

Biological processes related to Primary Progressive Multiple Sclerosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell surface receptor signaling pathwayGO:0071669.4IL7R, IFNB1
2B cell proliferationGO:0421009.3IL7R, IFNB1
3positive regulation of gene expressionGO:0106289.0PLP1, IL7R

Products for genes affiliated with Primary Progressive Multiple Sclerosis

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  • Antibodies
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Sources for Primary Progressive Multiple Sclerosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet