Progressive Multifocal Leukoencephalopathy malady

NIH Rare Diseases: 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).³⁰

MalaCards: Progressive Multifocal Leukoencephalopathy, also known as leukoencephalopathy, progressive multifocal, is related to leukemia and cerebritis. An important gene associated with Progressive Multifocal Leukoencephalopathy is CTXN2 (cortexin 2), and among its related pathways are Primary immunodeficiency and Intestinal immune network for IgA production. The compounds acyclovir and tuberculin have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and t cells, and related mouse phenotypes are hematopoietic system and skeleton.

Disease Ontology: 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.⁶

NINDS: 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). ³¹

Wikipedia: Progressive multifocal leukoencephalopathy (PML), also known as progressive multifocal...⁴⁴ more...

Aliases & Descriptions:

progressive multifocal leukoencephalopathy 6 30 31 8 leukoencephalopathy, progressive multifocal 30 43 leukoencephalopathy progressive multifocal 32

leukoencephalopathies 43 pml 30

Diseases related to progressive multifocal leukoencephalopathy by text searches and GeneDecks gene sharing:

(show top 50)    (show all 317)

id	Related Disease	Score	Top Affiliating Genes
1	leukemia	29.6	LBR, CD4, CD40LG, CD9, ITGA4, MECP2
2	cerebritis	29.0	CD4, CD40LG, MECP2, IL2, MBP, IGBP1
3	common variable immunodeficiency	28.5	LBR, CD40LG, IL2, TNF, PNP, ADA
4	immunodeficiency	28.5	CD4, CD40LG, ITGA4, IL2, MBP, IFNB1
5	kaposi's sarcoma	27.8	LBR, CD4, CD9, IFNB1, TNF, TAT
6	cytomegalovirus infection	27.6	CD40LG, CD9, ITGA4, IL2, TNF, SSBP3
7	primary biliary cirrhosis	27.4	LBR, CD4, CD40LG, ITGA4, IL2, TNF
8	hodgkin's lymphoma	27.4	LBR, CD40LG, ITGA4, IL2, IFNB1, TNF
9	myeloid leukemia	27.1	CD4, CD9, ITGA4, IL2, MBP, IFNB1
10	sarcoma	26.7	LBR, CD4, CD40LG, CD9, ITGA4, IL2
11	crohn's disease	26.7	LBR, CD4, CD40LG, ITGA4, IL2, MBP
12	herpes simplex	26.4	LBR, CD4, CD40LG, IL2, MBP, IFNB1
13	histiocytosis	26.3	CD4, IL2, TNF, ADA
14	nephropathy	26.2	LBR, CD4, CD40LG, IL2, MBP, IGHMBP2
15	lymphocytic leukemia	26.0	LBR, CD4, CD40LG, ITGA4, MECP2, IL2
16	acute leukemia	25.9	CD40LG, CD9, ITGA4, IL2, IFNB1, TNF
17	graft versus host disease	25.7	CD4, CD40LG, IL2, TNF, PNP, ADA
18	dementia	25.6	LBR, CD4, CD9, ITGA4, MBP, HTR2A
19	myocarditis	25.6	CD4, CD40LG, ITGA4, IL2, IFNB1, TNF
20	influenza	25.6	LBR, CD4, CD40LG, CD9, IL2, MBP
21	polyneuropathy	25.4	CD4, CD40LG, MBP, TNF
22	subacute sclerosing panencephalitis	25.3	IL2, MBP, TNF
23	hepatitis c	25.2	CD40LG, IL2, IFNB1, TNF
24	astrocytoma	25.2	CD4, ITGA4, IL2, MBP, IFNB1, TNF
25	schizophrenia	25.0	FEZ1, IL2, HTR2A, TNF
26	myeloma	24.8	GCN1L1, LBR, CD4, CD40LG, CD9, ITGA4
27	lymphoblastic leukemia	24.7	LBR, CD40LG, CD9, ITGA4, IL2, MBP
28	prostatitis	24.5	MXD4, CD4, CD40LG, CD9, MECP2, IL2
29	b-cell lymphomas	24.3	LBR, CD40LG, ITGA4, IL2, IFNB1, TNF
30	rheumatoid arthritis	24.1	LBR, CD4, CD40LG, CD9, ITGA4, IL2
31	retinoblastoma	24.1	CD9, MECP2, IL2, IFNB1, HTR2A, TNF
32	carcinoma	24.1	LBR, CD4, CD40LG, CD9, ITGA4, MECP2
33	arthritis	23.8	LBR, CD4, CD40LG, CD9, ITGA4, IL2
34	acute lymphoblastic leukemia	23.8	CD40LG, CD9, IL2, MBP, IFNB1, TNF
35	hepatitis b	23.7	CD4, CD40LG, CD9, IL2, MBP, IGBP1
36	chronic lymphocytic leukemia	23.4	CD4, CD40LG, ITGA4, MECP2, IL2, TNF
37	breast cancer	23.4	LBR, CD4, CD40LG, CD9, ITGA4, MECP2
38	renal cell carcinoma	23.2	LBR, CD4, CD40LG, CD9, IL2, MBP
39	breast carcinoma	23.1	CD4, CD40LG, CD9, IL2, IFNB1, TNF
40	hepatitis	23.0	LBR, CD4, CD40LG, CD9, ITGA4, IL2
41	neuronitis	22.8	MXD4, LBR, CD4, CD40LG, MECP2, FEZ1
42	gastric cancer	22.6	LBR, CD40LG, CD9, ITGA4, MECP2, IL2
43	multiple sclerosis	22.4	LBR, CD4, CD40LG, CD9, ITGA4, MECP2
44	systemic lupus erythematosus	22.2	LBR, CD4, CD40LG, ITGA4, MECP2, IL2
45	lupus erythematosus	22.2	LBR, CD4, CD40LG, ITGA4, MECP2, IL2
46	neuroblastoma	22.1	CD4, CD9, IL2, MBP, IFNB1, HTR2A
47	adenocarcinoma	21.4	CD40LG, CD9, MECP2, IL2, MBP, IGBP1
48	pancreatitis	20.8	CD4, CD40LG, CD9, ITGA4, IL2, MBP
49	thyroiditis	20.4	LBR, CD4, CD40LG, IL2, MBP, CCDC6
50	viral encephalitis	13.3	MBP, ADA

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to progressive multifocal leukoencephalopathy:

²²

MGI Mouse Phenotypes related to progressive multifocal leukoencephalopathy:

²⁵ (show all 12)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system phenotype	MP:0005397	9.7	IGBP1, SPIB, PNP, PURA, ADA
2	skeleton phenotype	MP:0005390	9.0	ADA, NFIC, CARTPT, IFNB1, MECP2, CD9
3	reproductive system phenotype	MP:0005389	8.9	MECP2, TNF, NFIA, NFIC
4	respiratory system phenotype	MP:0005388	7.5	ADA, POU3F1, PURA, NFIB, TNF, IGHMBP2
5	craniofacial phenotype	MP:0005382	7.3	NFIX, NFIC, NFIB, NFIA, SSBP3, TNF
6	immune system phenotype	MP:0005387	7.0	PURA, TICAM2, PNP, SPIB, TNF, CARTPT
7	homeostasis/metabolism phenotype	MP:0005376	7.0	CARTPT, PNP, NFIB, PURA, POU3F1, ADA
8	nervous system phenotype	MP:0003631	6.9	SSBP3, NFIA, NFIB, NFIC, NFIX, POU3F1
9	behavior/neurological phenotype	MP:0005386	6.1	TNF, NFIA, NFIC, NFIX, PURA, POU3F1
10	growth/size phenotype	MP:0005378	6.0	NFIA, NFIB, NFIC, NFIX, PURA, POU3F1
11	cellular phenotype	MP:0005384	5.7	TNF, SPIB, PNP, NFIA, PURA, ADA
12	mortality/aging	MP:0010768	5.0	PNP, NFIA, NFIB, NFIC, NFIX, PURA

Articles related to progressive multifocal leukoencephalopathy:

(show all 18)

id	Title	Authors	Year	Affiliating Genes
1	High expression of MeCP2 in JC virus-infected cells o f progressive multifocal leukoencephalopathy brains. (20497345)	Shirai S.... Tanaka S.	2011	MECP2
2	Role for tumor necrosis factor-I+ in JC virus reactiva tion and progressive multifocal leukoencephalopathy. (21185609)	Wollebo H.S.... White M.K.	2011	TNF
3	BKV and JCV large T antigen-specific CD8+ T cell resp onse in HLA A*0201+ kidney transplant recipients with polyomavirus nephropathy and patients with progressive multifocal leukoencephalopathy. (18295538)	Chen Y.... Koralnik I.J.	2008	TAG
4	Progressive multifocal leukoencephalopathy in purine nucleoside phosphorylase deficiency. (16949240)	Parvaneh N.... Parvaneh L.	2007	PNP
5	Progressive multifocal leukoencephalopathy in a patie nt with common variable immunodeficiency and abnormal CD8+ T-cell subset distri bution. (17521034)	Narula S.... Levinson A.I.	2007	IL2
6	Progressive multifocal leukoencephalopathy complicating X-linked hyper-IgM syndrome in an adult. (17106168)	Suzuki H.... Miyajima H.	2006	CD40LG
7	Rearrangement of simian virus 40 regulatory region is not required for induction of progressive multifocal leukoencephalopathy in immunosuppressed rhesus monkeys. (15650162)	Dang X.... Koralnik I.J.	2005	TAG
8	Progressive multifocal leukoencephalopathy after natalizumab therapy for Crohn's disease. (15947080)	Van Assche G.... Rutgeerts P.	2005	ITGA4
9	Evidence for involvement of transforming growth factor beta1 signaling pathway in activation of JC virus in human immunodeficiency virus 1-associated progressive multifocal leukoencephalopathy. (14987161)	Enam S.... Del Valle L.	2004	TAT
10	Nonmyeloablative allogeneic stem cell transplantation for refractory Hodgkin's lymphoma complicated by interleukin-2 responsive progressive multifocal leukoencephalopathy. (12185517)	Buckanovich R.J.... Porter D.L.	2002	IL2
11	Cellular and humoral immune response in progressive multifocal leukoencephalopathy. (11357954)	Weber F.... LA1ke W.	2001	LBR
12	Analysis of the transcriptional control region in progressive multifocal leukoencephalopathy. (11031693)	Vaz B.... Weber T.	2000	IGHMBP2
13	Detection of HIV-1 Tat and JCV capsid protein, VP1, in AIDS brain with progressive multifocal leukoencephalopathy. (10878711)	Del Valle L.... Khalili K.	2000	TAT
14	Reduced concentrations of HIV-RNA and TNF-alpha coexist in CSF of AIDS patients with progressive multifocal leukoencephalopathy. (10449561)	Monno L.... Angarano G.	1999	TNF
15	Progressive multifocal leukoencephalopathy (9103894)	Nagashima K.... Ochi H.	1997	IGHMBP2, POU3F1
16	Detection of JC virus by anti-VP1 immunohistochemistry in brains with progressive multifocal leukoencephalopathy. (9292691)	Jochum W.... Aguzzi A.	1997	ADA
17	Progressive multifocal leukoencephalopathy: the evolution of a disease once considered rare. (9222338)	Berger J.R.... Concha M.	1995	MBP
18	Progressive multifocal leukoencephalopathy in AIDS: a clinicopathologic study and review of the literature. (8410079)	von Einsiedel R.W.... Vinters H.V.	1993	CD9

Genes related to progressive multifocal leukoencephalopathy according to GeneCards:

(show all 32)

id	Symbol	Description	Score	GeneCards Section Context
1	CTXN2	cortexin 2	11.0	Disorders
2	POU3F1	POU class 3 homeobox 1	11.0	Publications
3	TICAM2	toll-like receptor adaptor molecule 2	11.0
4	CARTPT	CART prepropeptide	11.0
5	SPIB	Spi-B transcription factor (Spi-1/PU.1 related)	11.0
6	MXD4	MAX dimerization protein 4	11.0
7	IGHMBP2	immunoglobulin mu binding protein 2	11.0	Publications
8	FEZ1	fasciculation and elongation protein zeta 1 (zygin I)	11.0
9	IGBP1	immunoglobulin (CD79A) binding protein 1	11.0
10	LBR	lamin B receptor	11.0	Publications
11	TAT	tyrosine aminotransferase	11.0	Publications
12	NFIX	nuclear factor I/X (CCAAT-binding transcription factor)	11.0
13	PNP	purine nucleoside phosphorylase	11.0	Publications
14	PURA	purine-rich element binding protein A	11.0
15	TAG	tumor antigen gene	11.0	Publications
16	ITGA4	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	11.0	Publications
17	CCDC6	coiled-coil domain containing 6	11.0
18	CD9	CD9 molecule	11.0	Publications
19	GCN1L1	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	11.0
20	MECP2	methyl CpG binding protein 2 (Rett syndrome)	11.0	Publications
21	MBP	myelin basic protein	11.0	Publications
22	SSBP3	single stranded DNA binding protein 3	11.0
23	CD40LG	CD40 ligand	11.0	Publications
24	ADA	adenosine deaminase	11.0	Publications
25	IFNB1	interferon, beta 1, fibroblast	11.0
26	NFIC	nuclear factor I/C (CCAAT-binding transcription factor)	11.0
27	NFIB	nuclear factor I/B	11.0
28	NFIA	nuclear factor I/A	11.0
29	CD4	CD4 molecule	11.0
30	IL2	interleukin 2	11.0	Publications
31	HTR2A	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	11.0
32	TNF	tumor necrosis factor	11.0	Publications

Pathways related to progressive multifocal leukoencephalopathy according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Primary immunodeficiency20	10.0	CD4
2	Intestinal immune network for IgA production20	9.3	CD40LG, ITGA4, IL2
3	Hematopoietic cell lineage20	9.1	CD4, CD9, ITGA4, TNF
4	Cytokine Network36	9.1	IL2, IFNB1, TNF
5	Allograft rejection20	8.9	CD40LG, IL2, TNF
6	T cell receptor signaling pathway20	8.6	TNF, IL2, CD40LG, CD4
7	Th1 Differentiation37	8.5	TNF, IL2, CD4

Compounds related to progressive multifocal leukoencephalopathy according to GeneDecks:

(show top 50)    (show all 70)

id	Compound	Score	Top Affiliating Genes
1	acyclovir32	10.0	PNP, IFNB1, CD9
2	tuberculin32	10.0	ADA, CD40LG, LBR
3	mdms32	9.8	TAT, CD9, CD4
4	pentostatin32 42 9 9	12.7	ADA, PNP, IL2
5	cocaine32 9 9	11.7	TAT, CARTPT, MBP, CD9, CD40LG
6	guanosine32 9 18 9	12.7	ADA, TAT, PNP, MECP2
7	polyethylene glycol32	9.7	CD9, MBP
8	natalizumab32 9 9	11.7	ITGA4, IFNB1, TNF
9	purine32 18	10.6	ADA, PNP, IFNB1, CD9, LBR
10	hemocyanin32	9.6	MBP, ITGA4, CD40LG, CD4
11	glatiramer acetate32 9 9	11.6	IFNB1, MBP, IL2
12	ganglioside32	9.6	CD4, CD9, MBP
13	rolipram32 42	10.5	ADA, TNF, MBP, CD9
14	heparin32 9 18 9	12.5	TAT, MBP, ITGA4, CD4, LBR
15	sulfamethoxazole32 9 9	11.5	IL2, CD9, CD40LG
16	lenalidomide32 9 9	11.5	IL2, TNF, PNP
17	didanosine32 9 9	11.5	ADA, PNP, CD9, CD4, LBR
18	2-chlorodeoxyadenosine32	9.4	CD40LG, IL2, PNP, ADA
19	fludarabine32 9 9	11.4	ADA, PNP, IL2, CD40LG
20	ganciclovir32 9 9	11.4	PNP, IFNB1, IL2, CD9
21	okt332	9.3	LBR, CD40LG, IL2, TNF
22	ivig32	9.3	TNF, IFNB1, MBP, ITGA4, CD40LG
23	tarc32	9.2	CD4, ITGA4, IFNB1, TNF
24	neomycin32	9.2	ADA, TAT, IFNB1, IL2
25	il-1232	9.1	TNF, IL2, CD40LG
26	pentoxifylline32 9 9	11.0	TAT, TNF, IL2, ITGA4, CD9, LBR
27	ribavirin32 34 9 9	12.0	ADA, PNP, IFNB1, IL2, CD40LG, LBR
28	aspartate32	9.0	ADA, TAT, PNP, IFNB1, MBP, ITGA4
29	methotrexate32 34 42 9 9	12.8	MBP, IFNB1, TNF, TAT, ADA
30	2,5-oligoadenylate32	8.7	ADA, TAT, TAG, TNF, IFNB1, IL2
31	chloroquine32 34 9 9	11.7	TAT, TNF, IFNB1, IL2, CD4
32	norepinephrine32 9 18 9	11.7	ADA, TAT, HTR2A, MBP, CD40LG, LBR
33	histamine32 18	9.6	ADA, TAT, TNF, IL2, CD40LG, LBR
34	oligonucleotide32	8.6	TAT, TAG, PURA, SSBP3, IFNB1, MECP2
35	zidovudine32 9 9	10.5	ADA, TAT, IFNB1, IL2, CD9, CD4
36	herbimycin a32 42	9.5	TNF, IFNB1, IL2, CD40LG, CD4
37	cyclosporin a32 42	9.5	ADA, TAT, TNF, MBP, IL2, CD40LG
38	indomethacin32 9 9	10.3	ADA, TAT, TNF, IFNB1, MBP, IL2
39	thymidine32 18	9.3	TAG, PNP, TNF, IFNB1, MBP, IL2
40	glutamate32	8.3	ADA, TAT, PNP, IFNB1, MBP, MECP2
41	dexamethasone32 42 34 9 9	12.1	ADA, TAT, TNF, IFNB1, IL2, ITGA4
42	alanine32	8.1	ADA, TAT, TAG, PNP, IFNB1, MBP
43	cycloheximide32	8.0	TAT, TNF, IFNB1, MBP, IL2, ITGA4
44	neopterin32	7.9	LBR, ADA, TNF, IFNB1, IL2, CD9
45	rantes32	7.8	TAT, TNF, IFNB1, IL2, ITGA4, CD9
46	genistein32 9 18 9	10.8	TAT, TNF, IFNB1, IL2, ITGA4, CD9
47	cysteine32	7.5	PNP, NFIC, TAG, TAT, ADA, SSBP3
48	retinoic acid32 42 18	9.4	SSBP3, NFIA, TAG, TAT, ADA, TNF
49	tyrosine32	7.4	CCDC6, IFNB1, SPIB, PNP, MBP, IL2
50	serine32	7.1	TAT, TAG, PNP, SSBP3, TNF, IFNB1

Cellular components related to progressive multifocal leukoencephalopathy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	external side of plasma membrane	GO:009897	8.4	CD4, CD40LG, CD9, ITGA4, TNF, ADA

Biological processes related to progressive multifocal leukoencephalopathy according to GeneDecks:

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	axon ensheathment	GO:008366	9.8	MBP, POU3F1
2	regulation of immunoglobulin secretion	GO:051023	9.7	CD40LG, TNF
3	positive regulation of B cell proliferation	GO:030890	9.1	CD40LG, IL2, ADA
4	positive regulation of interferon-gamma production	GO:032729	9.0	TNF, IL2, CD40LG
5	DNA replication	GO:006260	9.0	NFIX, NFIC, NFIB, NFIA, IGHMBP2
6	negative regulation of transcription from RNA polymerase II promoter	GO:000122	8.4	NFIX, NFIC, NFIB, TNF, IGBP1, IGHMBP2
7	positive regulation of transcription from RNA polymerase II promoter	GO:045944	7.3	IL2, NFIX, NFIC, NFIB, NFIA, SSBP3