PPMS
MCID: PRM108
MIFTS: 34

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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Sources:
8Disease Ontology, 33MalaCards
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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: 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. Related mouse phenotypes are immune system and hematopoietic system.

Aliases & Classifications for Primary Progressive Multiple Sclerosis

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Sources:
8Disease Ontology, 45Novoseek, 62UMLS
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Classifications:

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


Aliases & Descriptions:

primary progressive multiple sclerosis 8 45
multiple sclerosis, primary progressive 62
primary-progressive ms 8
ppms 8


External Ids:

Disease Ontology8 DOID:0050784

Related Diseases for Primary Progressive Multiple Sclerosis

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Sources:
17GeneCards, 18GeneDecks
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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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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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Animal Models for Primary Progressive Multiple Sclerosis or affiliated genes

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Sources:
37MGI
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MGI Mouse Phenotypes related to Primary Progressive Multiple Sclerosis:

37
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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Sources:
52PubMed
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Articles related to Primary Progressive Multiple Sclerosis:

(show all 25)
idTitleAuthorsYear
1
Characteristic cerebrospinal fluid cytokine/chemokine profiles in neuromyelitis optica, relapsing remitting or primary progressive multiple sclerosis. (23637915)
2013
2
Decreased circulating miRNA levels in patients with primary progressive multiple sclerosis. (24277735)
2013
3
No association between genetic polymorphism at codon 129 of the prion protein gene and primary progressive multiple sclerosis. (21320996)
2011
4
Heterozygous X-linked adrenoleukodystrophy-associated myelopathy mimicking primary progressive multiple sclerosis. (20803344)
2011
5
Lack of replication of KIF1B gene in an Italian primary progressive multiple sclerosis cohort. (20067515)
2010
6
Progranulin gene variability increases the risk for primary progressive multiple sclerosis in males. (20463744)
2010
7
Genetic association of CASP8 polymorphisms with primary progressive multiple sclerosis. (20363033)
2010
8
APOE epsilon status in Hungarian patients with primary progressive multiple sclerosis. (21110240)
2010
9
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
10
Tumour necrosis factor alpha gene (TNF-alpha) -376 polymorphism in Hungarian patients with primary progressive multiple sclerosis. (19201038)
2009
11
MxA protein--an interferon beta biomarker in primary progressive multiple sclerosis patients. (18549400)
2008
12
Cell surface adhesion molecules and cytokine profiles in primary progressive multiple sclerosis. (17613596)
2007
13
Interferon-beta1b treatment modulates cytokines in patients with primary progressive multiple sclerosis. (17083335)
2006
14
Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation. (16130097)
2005
15
Gene expression and genotyping studies implicate the interleukin 7 receptor in the pathogenesis of primary progressive multiple sclerosis. (16075257)
2005
16
Autoantibody synthesis in primary progressive multiple sclerosis patients treated with interferon beta-1b. (15645350)
2004
17
Decreased MMP-9 production in primary progressive multiple sclerosis patients. (15327032)
2004
18
Immunologic factors in primary progressive multiple sclerosis. (15218805)
2004
19
Serum gelatinase B/MMP-9 in primary progressive multiple sclerosis patients treated with interferon-beta-1a. (14504963)
2003
20
Interferon-beta-1 b decreased matrix metalloproteinase-9 serum levels in primary progressive multiple sclerosis. (14586607)
2003
21
CTLA4 exon 1 dimorphism is associated with primary progressive multiple sclerosis. (12458055)
2002
22
Frequency of functional interleukin-10 promoter polymorphism is different between relapse-onset and primary progressive multiple sclerosis. (12039409)
2002
23
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
24
Detailed analysis of the oligodendrocyte myelin glycoprotein gene in four patients with neurofibromatosis 1 and primary progressive multiple sclerosis. (10766898)
2000
25
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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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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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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Sources:
50PathCards, 55Reactome, 30KEGG, 38NCBI BioSystems Database
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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 signaling38
9.4IL7R, IFNB1

Compounds for genes affiliated with Primary Progressive Multiple Sclerosis

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Sources:
45Novoseek, 61Tocris Bioscience, 51PharmGKB, 29IUPHAR, 24HMDB, 11DrugBank
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Compounds related to Primary Progressive Multiple Sclerosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
12,3-cyclic nucleotide459.5PLP1, MOG
2herbimycin a45 6110.4IFNB1, IL7R
3acetylcholine45 51 29 24 1113.4PLP1, MOG
4methionine459.0PLP1, IFNB1
5glatiramer acetate45 1110.0PLP1, IFNB1, MOG
6silver459.0PLP1, IFNB1, MOG
7lipid458.8PLP1, IFNB1, MOG

GO Terms for genes affiliated with Primary Progressive Multiple Sclerosis

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Sources:
16Gene Ontology
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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
  • Proteins
  • Lysates
  • Antibodies

Sources for Primary Progressive Multiple Sclerosis

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet