PML
MCID: PRG009
MIFTS: 53

Progressive Multifocal Leukoencephalopathy (PML) malady

Infectious, Neuronal categories

Summaries for Progressive Multifocal Leukoencephalopathy

Sources:
8Disease Ontology, 43NIH Rare Diseases, 44NINDS, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 Progressive multifocal leukoencephalopathy (pml) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. it is caused by the jc virus (jcv). by age 10, most people have been infected with this virus, but it rarely causes symptoms unless the immune system becomes severely weakened. the disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer, such as hodgkin’s disease, lymphoma, and sarcoidosis.  pml is most common among individuals with acquired immune deficiency syndrome (aids). last updated: 4/1/2011

MalaCards: Progressive Multifocal Leukoencephalopathy, also known as leukoencephalopathy, progressive multifocal, is related to systemic lupus erythematosus and acquired immunodeficiency syndrome. An important gene associated with Progressive Multifocal Leukoencephalopathy is IGHMBP2 (immunoglobulin mu binding protein 2), and among its related pathways is purine nucleotides degradation II (aerobic). The compounds deoxyinosine and 9-(beta-d-arabinofuranosyl)guanine have been mentioned in the context of this disorder. Affiliated tissues include liver, spinal cord and brain, and related mouse phenotypes are skeleton and respiratory system.

Disease Ontology:8 A viral infectious disease that involves reactivation of jc polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. the symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma.

NINDS:44 Progressive multifocal leukoencephalopathy (PML) is a disease of the white matter of the brain, caused by a virus infection that targets cells that make myelin--the material that insulates nerve cells (neurons).

Wikipedia:64 Progressive multifocal leukoencephalopathy (PML), also known as progressive multifocal... more...

Aliases & Classifications for Progressive Multifocal Leukoencephalopathy

Sources:
8Disease Ontology, 43NIH Rare Diseases, 44NINDS, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 27ICD9CM, 40NCIt, 57SNOMED-CT, 62UMLS via Orphanet, 36MESH via Orphanet, 58SNOMED-CT via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Infectious
Anatomical: Neuronal


Characteristics (Orphanet epidemiological data):

49
progressive multifocal leukoencephalopathy:
Inheritance: Sporadic; Age of onset: Variable


Aliases & Descriptions:

progressive multifocal leukoencephalopathy 8 43 44 10 49
leukoencephalopathy, progressive multifocal 43 61
leukoencephalopathy progressive multifocal 45
progressive multifocal leukoencephalitis 49
pml 43


External Ids:

Disease Ontology8 DOID:643
MeSH35 D007968
ICD9CM27 046.3
NCIt40 C26815
SNOMED-CT57 22255007
UMLS via Orphanet62 C0023524
MESH via Orphanet36 D007968
SNOMED-CT via Orphanet58 22255007
ICD1025 A81.2

Related Diseases for Progressive Multifocal Leukoencephalopathy

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Progressive Multifocal Leukoencephalopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 149)
idRelated DiseaseScoreTop Affiliating Genes
1systemic lupus erythematosus30.9PDCD1, LBR, ITGA4, ADA
2acquired immunodeficiency syndrome30.9CARTPT, TAT
3arthritis30.7ITGA4, TAT
4t-cell leukemia30.7LBR, ITGA4, TAT, PNP, ADA
5kaposi's sarcoma30.3TAT, CD9, LBR
6primary biliary cirrhosis30.2LBR
7purine nucleoside phosphorylase deficiency30.2ADA
8aseptic meningitis30.2ADA, CD9
9hepatitis c30.2CD9
10acute lymphocytic leukemia30.2ADA, PNP, CD9, ITGA4
11non-hodgkin lymphoma30.2CT49, LBR, ITGA4, TAT, PNP, ADA
12mycosis fungoides30.2ITGA4, ADA
13acute promyelocytic leukemia11.0
14rheumatic disease10.6
15n syndrome10.5
16adult syndrome10.5
17follicular lymphoma10.5
18good syndrome10.4
19tremor10.4
20acute t cell leukemia10.4
21acute myeloid leukemia10.4
22rabies10.3
23crohn's disease10.3
24wiskott-aldrich syndrome10.3
25common variable immunodeficiency10.3
26t lymphocyte deficiency10.3
27cortical blindness10.3
28acute leukemia10.3
29vasculitis10.3
30t-lymphocytopenia10.3
31polymyositis10.3
32blindness10.3
33squamous cell carcinoma10.2
34neuronal intranuclear inclusion disease10.2
35bloom syndrome10.2
36parotitis10.2
37thyroiditis10.2
38soft tissue sarcoma10.2
39cytomegalovirus infection10.2
40esophageal squamous cell carcinoma10.2
41endotheliitis10.2
42graft versus host disease10.2
43rubella10.2
44richter's syndrome10.2
45subacute sclerosing panencephalitis10.2
46polycythemia vera10.2
47central nervous system lymphoma10.2
48macroglobulinemia10.2
49pancytopenia10.2
50meningoencephalitis10.2

Graphical network of the top 20 diseases related to Progressive Multifocal Leukoencephalopathy:



Diseases related to progressive multifocal leukoencephalopathy

Clinical Features for Progressive Multifocal Leukoencephalopathy

Drugs & Therapeutics for Progressive Multifocal Leukoencephalopathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Progressive Multifocal Leukoencephalopathy

Drug clinical trials:

Search ClinicalTrials for Progressive Multifocal Leukoencephalopathy

Search NIH Clinical Center for Progressive Multifocal Leukoencephalopathy

Search CenterWatch for Progressive Multifocal Leukoencephalopathy

Genetic Tests for Progressive Multifocal Leukoencephalopathy

Anatomical Context for Progressive Multifocal Leukoencephalopathy

Sources:
33MalaCards
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MalaCards organs/tissues related to Progressive Multifocal Leukoencephalopathy:

33
Liver, Spinal cord, Brain, Kidney, Lung, Bone marrow, Cortex, Heart, T cells, B cells, Fetal brain, Fetal liver, Fetal lung

Animal Models for Progressive Multifocal Leukoencephalopathy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Progressive Multifocal Leukoencephalopathy

Sources:
51PubMed
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Articles related to Progressive Multifocal Leukoencephalopathy:

(show top 50)    (show all 517)
idTitleAuthorsYear
1
Progressive multifocal leukoencephalopathy in a patient with chronic lymphocytic leukaemia treated with alemtuzumab. (24403383)
2014
2
Progressive multifocal leukoencephalopathy with gastrointestinal disease in a pediatric kidney transplant recipient. (23902604)
2013
3
ABO Blood Groups and Risk for Progressive Multifocal Leukoencephalopathy. (24126810)
2013
4
A Rare Case of Immune Reconstitution Inflammatory Syndrome Development in an Immunocompromised Patient with Progressive Multifocal Leukoencephalopathy and Multicentric Castleman's Disease. (24151569)
2013
5
Detection of human herpesviruses in the cerebrospinal fluid from patients diagnosed with or suspected of having progressive multifocal leukoencephalopathy. (24330281)
2013
6
Progressive multifocal leukoencephalopathy after natalizumab discontinuation. (24242357)
2013
7
Progressive multifocal leukoencephalopathy (PML) associated with HIV Clade C--is not uncommon. (23700233)
2013
8
Progressive multifocal leukoencephalopathy: why gray and white matter. (23092189)
2013
9
Progressive multifocal leukoencephalopathy: clinical and molecular aspects. (21936015)
2012
10
Efficacy of mefloquine to progressive multifocal leukoencephalopathy initially presented with parkinsonism. (22209147)
2012
11
Progressive Multifocal Leukoencephalopathy with Immune Reconstitution Inflammatory Syndrome (PML-IRIS): two case reports of successful treatment with mefloquine and a review of the literature. (23303123)
2012
12
Molecular biology, epidemiology, and pathogenesis of progressive multifocal leukoencephalopathy, the JC virus-induced demyelinating disease of the human brain. (22763635)
2012
13
Common and uncommon imaging findings in progressive multifocal leukoencephalopathy (PML) with differential diagnostic considerations. (22771304)
2012
14
Progressive multifocal leukoencephalopathy as an AIDS-defining condition in a patient with high CD4+ T-lymphocyte count. (21340424)
2011
15
Progressive multifocal leukoencephalopathy development is associated with mutations in JC virus capsid protein VP1 that change the receptor specificity of the virus. (21930611)
2011
16
Long-term clinical improvement of progressive multifocal leukoencephalopathy associated with prominent inflammatory response and follicular lymphoma. (21707304)
2011
17
Progressive multifocal leukoencephalopathy and natalizumab. (21647730)
2011
18
Proton MR spectroscopy of progressive multifocal leukoencephalopathy-immune reconstitution inflammatory syndrome. (20538829)
2010
19
Progressive multifocal leukoencephalopathy in a patient with Good's syndrome. (19695918)
2010
20
A case of progressive multifocal leukoencephalopathy and idiopathic CD4+ lymphocytopenia. (20864499)
2010
21
Spontaneous recovery from progressive multifocal leukoencephalopathy in a patient with non-active sarcoidosis. (20599411)
2010
22
Successful management of natalizumab-associated progressive multifocal leukoencephalopathy and immune reconstitution syndrome in a patient with multiple sclerosis. (20625069)
2010
23
Clinical outcome of long-term survivors of progressive multifocal leukoencephalopathy. (20710013)
2010
24
Incidence, clinical presentation, and outcome of progressive multifocal leukoencephalopathy in HIV-infected patients during the highly active antiretroviral therapy era: a nationwide cohort study. (19007313)
2009
25
Adaptive mutations in the JC virus protein capsid are associated with progressive multifocal leukoencephalopathy (PML). (19197354)
2009
26
Treatment options for AIDS patients with progressive multifocal leukoencephalopathy. (19191678)
2009
27
Progressive multifocal leukoencephalopathy developing in a fludarabine naA^ve patient with chronic lymphocytic leukemia. (20360880)
2009
28
Progressive multifocal leukoencephalopathy and relapsing-remitting multiple sclerosis: a comparative study. (19433659)
2009
29
Frequent infection of cerebellar granule cell neurons by polyomavirus JC in progressive multifocal leukoencephalopathy. (19104450)
2009
30
Hypoxia inducible factor-1 alpha activation of the JCV promoter: role in the pathogenesis of progressive multifocal leukoencephalopathy. (19360424)
2009
31
Progressive multifocal leukoencephalopathy as first manifestation of sarcoidosis. (17981390)
2008
32
Progressive multifocal leukoencephalopathy after allogeneic bone marrow transplantation for Wiskott-Aldrich syndrome. (18353068)
2008
33
Progressive multifocal leukoencephalopathy in patients with rheumatic diseases: are patients with systemic lupus erythematosus at particular risk? (18700172)
2008
34
Neurotoxicity that may mimic progressive multifocal leukoencephalopathy in patient with transplanted kidney. (17598423)
2007
35
Neuropsychological and neuroimaging outcome of HIV-associated progressive multifocal leukoencephalopathy in the era of antiretroviral therapy. (17472229)
2007
36
Progressive multifocal leukoencephalopathy in a patient with common variable immunodeficiency and abnormal CD8+ T-cell subset distribution. (17521034)
2007
37
Progression of progressive multifocal leukoencephalopathy despite treatment with beta-interferon. (16401874)
2006
38
Conventional and diffusion-weighted MRI in progressive multifocal leukoencephalopathy: new elements for identification and follow-up. (17021685)
2006
39
A case report of progressive multifocal leukoencephalopathy in a human T-cell lymphotropic virus type 1-infected hemodialytic patient. (16817797)
2006
40
Rearrangement of simian virus 40 regulatory region is not required for induction of progressive multifocal leukoencephalopathy in immunosuppressed rhesus monkeys. (15650162)
2005
41
Progressive multifocal leukoencephalopathy in a patient treated with natalizumab. (15947078)
2005
42
Images in pathology: granule cell loss in AIDS-associated progressive multifocal leukoencephalopathy. (16273193)
2005
43
Progressive multifocal leukoencephalopathy after allogeneic stem cell transplantation and posttransplantation rituximab. (12883208)
2003
44
Identical rearranged forms of JC polyomavirus transcriptional control region in plasma and cerebrospinal fluid of acquired immunodeficiency syndrome patients with progressive multifocal leukoencephalopathy. (13129769)
2003
45
The effect of highly active antiretroviral therapy-induced immune reconstitution on development and outcome of progressive multifocal leukoencephalopathy: study of 43 cases with review of the literature. (12709876)
2003
46
Advances in the biology of JC virus and induction of progressive multifocal leukoencephalopathy. (12707854)
2003
47
Identification of HIV-associated progressive multifocal leukoencephalopathy: magnetic resonance imaging and spectroscopy. (12556565)
2003
48
Multifocal progressive leukoencephalopathy occurring after refractory anemia and multiple infectious disorders consecutive to severe lymphopenia. (12107566)
2002
49
Unusual MRI and pathologic findings of progressive multifocal leukoencephalopathy complicating adult Wiskott-Aldrich syndrome. (9008537)
1997
50
Subacute sclerosing panencephalitis, progressive rubella panencephalitis, and multifocal leukoencephalopathy. (2183315)
1990

Genetic Variations for Progressive Multifocal Leukoencephalopathy

Expression for genes affiliated with Progressive Multifocal Leukoencephalopathy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Progressive Multifocal Leukoencephalopathy

Search GEO for disease gene expression data for Progressive Multifocal Leukoencephalopathy.

Pathways for genes affiliated with Progressive Multifocal Leukoencephalopathy

Sources:
38NCBI BioSystems Database
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Pathways related to Progressive Multifocal Leukoencephalopathy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.2ADA, PNP

Compounds for genes affiliated with Progressive Multifocal Leukoencephalopathy

Sources:
45Novoseek, 24HMDB, 11DrugBank, 60Tocris Bioscience, 29IUPHAR, 50PharmGKB
See all sources

Compounds related to Progressive Multifocal Leukoencephalopathy according to GeneCards/GeneDecks:

(show all 26)
idCompoundScoreTop Affiliating Genes
1deoxyinosine45 2411.6PNP, ADA
29-(beta-d-arabinofuranosyl)guanine4510.6ADA, PNP
3nelarabine45 1111.5ADA, PNP
4cordycepin4510.5ADA, TAT
52,3-dideoxyadenosine4510.5ADA, PNP
6pentostatin45 60 29 1113.5ADA, PNP
72,5-oligoadenylate4510.4CT49, TAT, ADA
8ribavirin45 50 1112.4LBR, PNP, ADA
9tuberculin4510.4LBR, ADA
10guanosine45 11 2412.3MECP2, TAT, PNP, ADA
11deoxyadenosine45 2411.3ADA, PNP
12neopterin4510.3LBR, CD9, ADA
13didanosine45 1111.3ADA, PNP, CD9, LBR
14vincristine45 50 1112.3ADA, TAT, ITGA4
15pentoxifylline45 1111.3LBR, ITGA4, CD9, TAT
16rantes4510.3CD9, ITGA4, LBR
17zidovudine45 1111.3LBR, CD9, TAT, ADA
18purine45 2411.2ADA, PNP, CD9, LBR
19mdms4510.2CD9, TAT
20adenosine29 11 2412.1PNP, ADA
21gold4510.0TAT, CD9, LBR
22alanine459.9CT49, MECP2, CD9, TAT, PNP, ADA
23cysteine459.8CT49, LBR, CD9, TAT, PNP, ADA
24retinoic acid45 2410.8CT49, LBR, ITGA4, CD9, TAT, ADA
25oligonucleotide459.8PURA, CT49, MECP2, CD9, TAT
26tyrosine459.2PDCD1, LBR, ITGA4, CD9, TAT, PNP

GO Terms for genes affiliated with Progressive Multifocal Leukoencephalopathy

Sources:
16Gene Ontology
See all sources

Cellular components related to Progressive Multifocal Leukoencephalopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:0098979.9ADA, CD9, ITGA4, PDCD1

Biological processes related to Progressive Multifocal Leukoencephalopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1purine-containing compound salvageGO:04310110.2ADA, PNP
2positive regulation of alpha-beta T cell differentiationGO:0466389.9ADA, PNP

Products for genes affiliated with Progressive Multifocal Leukoencephalopathy

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Sources for Progressive Multifocal Leukoencephalopathy

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet