PedAM

Pediatric Disease Annotations & Medicines


	progressive multifocal leukoencephalopathy

Disease ID	53
Disease	progressive multifocal leukoencephalopathy
Definition	An opportunistic viral infection of the central nervous system associated with conditions that impair cell-mediated immunity (e.g., ACQUIRED IMMUNODEFICIENCY SYNDROME and other IMMUNOLOGIC DEFICIENCY SYNDROMES; HEMATOLOGIC NEOPLASMS; IMMUNOSUPPRESSION; and COLLAGEN DISEASES). The causative organism is JC Polyomavirus (JC VIRUS) which primarily affects oligodendrocytes, resulting in multiple areas of demyelination. Clinical manifestations include DEMENTIA; ATAXIA; visual disturbances; and other focal neurologic deficits, generally progressing to a vegetative state within 6 months. (From Joynt, Clinical Neurology, 1996, Ch26, pp36-7)
Synonym	enceph jc polyomavirus encephalitis, jc polyomavirus encephalopathies, jc polyomavirus encephalopathy, jc polyomavirus jc polyomavirus enceph jc polyomavirus encephalitis jc polyomavirus encephalopathy leukoenceph progressive multifocal leukoencephalopathies, progressive multifocal leukoencephalopathy, progressive multifocal leukoencephalopathy, progressive multifocal [disease/finding] multifocal leucoencephalopathy multifocal leukoencephalopathies, progressive multifocal leukoencephalopathy multifocal leukoencephalopathy nos multifocal leukoencephalopathy, nos multifocal leukoencephalopathy, progressive pml pml - progressive multifocal leucoencephalopathy pml - progressive multifocal leukoencephalopathy pmle - progressive multifocal leucoencephalopathy pmle - progressive multifocal leukoencephalopathy prog multifoc leukoencep progressive multifocal leucoencephalopathy progressive multifocal leukoenceph progressive multifocal leukoencephalopathies progressive multifocal leukoencephalopathy (disorder)
Orphanet	ORPHANET:217260
OMIM	OMIM:102578
DOID	DOID:643
ICD10	ICD10CM:A81.2
UMLS	C0023524
MeSH	D007968
SNOMED-CT	SNOMEDCT_US_2016_09_01:22255007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:37) C0026769 \| multiple sclerosis \| 21 C0024299 \| lymphoma \| 6 C0019829 \| hodgkin lymphoma \| 5 C0024305 \| non-hodgkin lymphoma \| 4 C0042769 \| virus infection \| 3 C0010346 \| crohn's disease \| 3 C0221027 \| good's syndrome \| 3 C0409974 \| lupus erythematosus \| 3 C0026764 \| multiple myeloma \| 3 C0003873 \| rheumatoid arthritis \| 3 C0024141 \| systemic lupus erythematosus \| 3 C0023434 \| chronic lymphocytic leukemia \| 2 C0009447 \| common variable immunodeficiency \| 2 C0036205 \| pulmonary sarcoidosis \| 1 C0023448 \| lymphocytic leukemia \| 1 C0003864 \| arthritis \| 1 C0021053 \| immune disease \| 1 C0008312 \| primary biliary cirrhosis \| 1 C0017178 \| gastrointestinal disease \| 1 C0038220 \| status epilepticus \| 1 C0008312 \| biliary cirrhosis \| 1 C0206744 \| cd4 lymphocytopenia \| 1 C0024299 \| malignant lymphoma \| 1 C0751967 \| relapsing-remitting multiple sclerosis \| 1 C0023891 \| alcoholic cirrhosis \| 1 C0024312 \| lymphopenia \| 1 C0026986 \| myelodysplastic syndrome \| 1 C0023467 \| acute myeloid leukaemia \| 1 C0023418 \| leukaemia \| 1 C0022658 \| nephropathy \| 1 C0021831 \| intestinal disease \| 1 C0035435 \| rheumatic diseases \| 1 C0023470 \| myeloid leukaemia \| 1 C0024419 \| waldenstrom macroglobulinemia \| 1 C0001175 \| acquired immunodeficiency syndrome \| 1 C0035435 \| rheumatic disease \| 1 C0376545 \| hematological malignancy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) PML \| 5371 \| OMIM
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 7157 \| TP53 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:114) 23468 \| CBX5 \| DISEASES 8174 \| MADCAM1 \| DISEASES 51090 \| PLLP \| DISEASES 10423 \| CDIPT \| DISEASES 10404 \| CPQ \| DISEASES 6347 \| CCL2 \| DISEASES 6372 \| CXCL6 \| DISEASES 3558 \| IL2 \| DISEASES 3458 \| IFNG \| DISEASES 3820 \| KLRB1 \| DISEASES 6402 \| SELL \| DISEASES 10047 \| CST8 \| DISEASES 1236 \| CCR7 \| DISEASES 6945 \| MLX \| DISEASES 968 \| CD68 \| DISEASES 6351 \| CCL4 \| DISEASES 2670 \| GFAP \| DISEASES 9476 \| NAPSA \| DISEASES 6382 \| SDC1 \| DISEASES 3508 \| IGHMBP2 \| DISEASES 6426 \| SRSF1 \| DISEASES 904 \| CCNT1 \| DISEASES 9043 \| SPAG9 \| DISEASES 6521 \| SLC4A1 \| DISEASES 8030 \| CCDC6 \| DISEASES 23523 \| CABIN1 \| DISEASES 440275 \| EIF2AK4 \| DISEASES 3574 \| IL7 \| DISEASES 943 \| TNFRSF8 \| DISEASES 6774 \| STAT3 \| DISEASES 839 \| CASP6 \| DISEASES 4986 \| OPRK1 \| DISEASES 1017 \| CDK2 \| DISEASES 7157 \| TP53 \| DISEASES 3930 \| LBR \| DISEASES 5868 \| RAB5A \| DISEASES 9638 \| FEZ1 \| DISEASES 55768 \| NGLY1 \| DISEASES 1234 \| CCR5 \| DISEASES 4634 \| MYL3 \| DISEASES 6352 \| CCL5 \| DISEASES 58191 \| CXCL16 \| DISEASES 6374 \| CXCL5 \| DISEASES 9607 \| CARTPT \| DISEASES 6862 \| T \| DISEASES 90167 \| FRMD7 \| DISEASES 27343 \| POLL \| DISEASES 4775 \| NFATC3 \| DISEASES 1901 \| S1PR1 \| DISEASES 1051 \| CEBPB \| DISEASES 947 \| CD34 \| DISEASES 931 \| MS4A1 \| DISEASES 8685 \| MARCO \| DISEASES 6664 \| SOX11 \| DISEASES 199699 \| DAND5 \| DISEASES 1237 \| CCR8 \| DISEASES 5813 \| PURA \| DISEASES 9939 \| RBM8A \| DISEASES 9094 \| UNC119 \| DISEASES 10608 \| MXD4 \| DISEASES 23583 \| SMUG1 \| DISEASES 6672 \| SP100 \| DISEASES 5348 \| FXYD1 \| DISEASES 3605 \| IL17A \| DISEASES 1499 \| CTNNB1 \| DISEASES 4948 \| OCA2 \| DISEASES 3476 \| IGBP1 \| DISEASES 3683 \| ITGAL \| DISEASES 10219 \| KLRG1 \| DISEASES 10803 \| CCR9 \| DISEASES 4763 \| NF1 \| DISEASES 404552 \| SCGB1D4 \| DISEASES 55147 \| RBM23 \| DISEASES 6663 \| SOX10 \| DISEASES 56955 \| MEPE \| DISEASES 6772 \| STAT1 \| DISEASES 7150 \| TOP1 \| DISEASES 7042 \| TGFB2 \| DISEASES 9531 \| BAG3 \| DISEASES 959 \| CD40LG \| DISEASES 26036 \| ZNF451 \| DISEASES 23648 \| SSBP3 \| DISEASES 2060 \| EPS15 \| DISEASES 3434 \| IFIT1 \| DISEASES 4904 \| YBX1 \| DISEASES 5453 \| POU3F1 \| DISEASES 2833 \| CXCR3 \| DISEASES 1043 \| CD52 \| DISEASES 240 \| ALOX5 \| DISEASES 10673 \| TNFSF13B \| DISEASES 7133 \| TNFRSF1B \| DISEASES 8928 \| FOXH1 \| DISEASES 3356 \| HTR2A \| DISEASES 3456 \| IFNB1 \| DISEASES 91543 \| RSAD2 \| DISEASES 4155 \| MBP \| DISEASES 5888 \| RAD51 \| DISEASES 4099 \| MAG \| DISEASES 5450 \| POU2AF1 \| DISEASES 10379 \| IRF9 \| DISEASES 3676 \| ITGA4 \| DISEASES 7441 \| VPREB1 \| DISEASES 50489 \| CD207 \| DISEASES 146713 \| RBFOX3 \| DISEASES 4204 \| MECP2 \| DISEASES 7124 \| TNF \| DISEASES 9278 \| ZBTB22 \| DISEASES 388372 \| CCL4L1 \| DISEASES 399697 \| CTXN2 \| DISEASES 81704 \| DOCK8 \| DISEASES 573 \| BAG1 \| DISEASES 930 \| CD19 \| DISEASES 246734 \| NPCDR1 \| DISEASES 6689 \| SPIB \| DISEASES
Locus	(Waiting for update.)

Disease ID	53
Disease	progressive multifocal leukoencephalopathy
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:25) HP:0002665 \| Lymphoma \| 6 HP:0012189 \| Hodgkin disease \| 5 HP:0002721 \| Immunodeficiency \| 5 HP:0012539 \| Non-Hodgkin lymphoma \| 4 HP:0006775 \| Multiple myeloma \| 3 HP:0100280 \| Morbus Crohn \| 3 HP:0002725 \| Systemic lupus erythematosus \| 3 HP:0001370 \| Rheumatoid arthritis \| 3 HP:0005550 \| Chronic lymphatic leukemia \| 2 HP:0002613 \| Biliary cirrhosis \| 1 HP:0001337 \| Tremor \| 1 HP:0005508 \| Waldenstrom macroglobulinemia \| 1 HP:0100543 \| Cognitive deficits \| 1 HP:0001888 \| Lymphocytopenia \| 1 HP:0001410 \| Decreased liver function \| 1 HP:0002133 \| Status epilepticus \| 1 HP:0000112 \| Nephropathy \| 1 HP:0000572 \| Visual loss \| 1 HP:0001369 \| Arthritis \| 1 HP:0009733 \| Glioma \| 1 HP:0002863 \| Myelodysplastic syndrome \| 1 HP:0002960 \| Autoimmune condition \| 1 HP:0005403 \| Decreased numbers of circulating T cells \| 1 HP:0000969 \| Dropsy \| 1 HP:0011096 \| Demyelination \| 1

Disease ID	53
Disease	progressive multifocal leukoencephalopathy
Manually Symptom	UMLS \| Name(Total Manually Symptoms:9) C2364133 \| infection C1619738 \| immune reconstitution syndrome C1619738 \| immune reconstitution inflammatory syndrome C0857836 \| jc virus infection C0235031 \| neurological symptoms C0085543 \| epilepsia partialis continua C0042769 \| virus infection C0026764 \| multiple myeloma C0007684 \| central nervous system infections
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:5) C0009450 \| infection \| 6 C1619738 \| immune reconstitution inflammatory syndrome \| 4 C0026764 \| multiple myeloma \| 3 C0042769 \| virus infection \| 3 C0857836 \| jc virus infection \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:12)
Chr	Pos	SNP_Id	RefGene	EnsemblGene	ENCODE_Factor	ENCODE_TFBS	Chromosome_interaction	GTEx_eQTL	SNP_TFBS_affinity_GWAS3D	SNP_miRNA_target_affinity_PolymiRTS	SNP_splicing_effect_Skippy	SNP_splicing_effect_MutPred_Splice	SNP_ns_protein_effect_dbNSFP	SNP_syn_effect_Silva	SNP_phosphorylation_effect_PhosSNP	PhastCons_score	PhyloP_score	GERP++_RS	Segway_state	Ancestral_allele	ESP_AF	ESP_AFR	ESP_AFR	ESP_EUR	TG_ASN	TG_AMR	TG_AFR	TG_EUR	Type	Consequence	bStatistic	EncH3K27Ac	EncH3K4Me1	EncH3K4Me3	EncNucleo	OMIM	Clinvar
15	74291023	rs3784562	NM_002675,PML	NM_033238,PML	NM_033239,PML	NM_033240,PML	NM_033250,PML	NM_033249,PML	NM_033247,PML	NM_033246,PML	NM_033244,PML	ENST00000436891,ENSG00000140464	ENST00000359928,ENSG00000140464	ENST00000435786,ENSG00000140464	ENST00000395135,ENSG00000140464	ENST00000417341,ENSG00000140464	ENST00000418568,ENSG00000140464	ENST00000354026,ENSG00000140464	ENST00000268059,ENSG00000140464	ENST00000395132,ENSG00000140464	ENST00000268058,ENSG00000140464	NA	NA	chr15,74290001,74300000,chr5,37300001,37310000,6,Hi-C	chr15,74290001,74300000,chr2,131350001,131360000,9,Hi-C	NA	LM33,2.4089	LM88,2.8495	LM116,1.7582	LM197,1.2643	LM204,2.2225	NA	NA	NA	NA	NA	NA
15	74305966	rs8039584	NM_002675,PML	NM_033238,PML	NM_033239,PML	NM_033240,PML	NM_033250,PML	NM_033249,PML	NM_033247,PML	NM_033246,PML	NM_033244,PML	ENST00000436891,ENSG00000140464	ENST00000359928,ENSG00000140464	ENST00000435786,ENSG00000140464	ENST00000395135,ENSG00000140464	ENST00000417341,ENSG00000140464	ENST00000418568,ENSG00000140464	ENST00000354026,ENSG00000140464	ENST00000268059,ENSG00000140464	ENST00000395132,ENSG00000140464	ENST00000268058,ENSG00000140464	TFP.STAT3	TFP.MAFK	TFP.MAFF	MCV-3	NA	chr15,74300001,74310000,chr15,74210001,74220000,4,Hi-C	NA	Pbf1-primary,2.0471	Pbf2-primary,1.5502	LM16,1.6958	LM42,2.1644	LM61,1.5592	NA	NA	NA	NA
15	74311689	rs12592370	NM_002675,PML	NM_033238,PML	NM_033239,PML	NM_033240,PML	NM_033250,PML	NM_033249,PML	NM_033247,PML	NM_033246,PML	NM_033244,PML	ENST00000436891,ENSG00000140464	ENST00000359928,ENSG00000140464	ENST00000435786,ENSG00000140464	ENST00000395135,ENSG00000140464	ENST00000417341,ENSG00000140464	ENST00000418568,ENSG00000140464	ENST00000354026,ENSG00000140464	ENST00000268059,ENSG00000140464	ENST00000395132,ENSG00000140464	ENST00000268058,ENSG00000140464	NA	NA	chr15,74310001,74320000,chr22,30760001,30770000,5,Hi-C	chr15,74310001,74320000,chr1,15730001,15740000,6,Hi-C	chr15,74310001,74320000,chr1,143240001,143250000,42,Hi-C	NA	LM14,2.7669	LM16,1.9768	LM70,2.407	LM177,3.8752	LM213,3.1044	NA	NA	NA	NA	NA
15	74312794	rs11072468	NM_002675,PML	NM_033238,PML	NM_033239,PML	NM_033240,PML	NM_033250,PML	NM_033249,PML	NM_033247,PML	NM_033246,PML	NM_033244,PML	ENST00000436891,ENSG00000140464	ENST00000359928,ENSG00000140464	ENST00000435786,ENSG00000140464	ENST00000395135,ENSG00000140464	ENST00000417341,ENSG00000140464	ENST00000418568,ENSG00000140464	ENST00000354026,ENSG00000140464	ENST00000268059,ENSG00000140464	ENST00000395132,ENSG00000140464	ENST00000268058,ENSG00000140464	NA	NA	chr15,74310001,74320000,chr22,30760001,30770000,5,Hi-C	chr15,74310001,74320000,chr1,15730001,15740000,6,Hi-C	chr15,74310001,74320000,chr1,143240001,143250000,42,Hi-C	NA	Cha4-primary,1.859	Cutl1_3494,1.5861	Gat1-primary,32.2039	Gzf3-primary,7.6519	Stb3-FL-primary,2.206	NA	NA	NA	NA	NA
15	74317362	rs3825941	NM_002675,PML	NM_033238,PML	NM_033239,PML	NM_033240,PML	NM_033250,PML	NM_033249,PML	NM_033247,PML	NM_033246,PML	NM_033244,PML	ENST00000436891,ENSG00000140464	ENST00000359928,ENSG00000140464	ENST00000435786,ENSG00000140464	ENST00000395135,ENSG00000140464	ENST00000417341,ENSG00000140464	ENST00000418568,ENSG00000140464	ENST00000354026,ENSG00000140464	ENST00000268059,ENSG00000140464	ENST00000395132,ENSG00000140464	ENST00000268058,ENSG00000140464	MCV-12	NA	chr15,74310001,74320000,chr22,30760001,30770000,5,Hi-C	chr15,74310001,74320000,chr1,15730001,15740000,6,Hi-C	chr15,74310001,74320000,chr1,143240001,143250000,42,Hi-C	NA	LM39,1.5404	Pax5,3.2644	NHLH1,5.5278	GKCGCNNNNNNNTGAYG,1.712	p300,5.8517	NA	NA	NA	NA	NA
15	74331083	rs10851869	NM_002675,PML	NM_033238,PML	NM_033249,PML	NM_033246,PML	ENST00000436891,ENSG00000140464	ENST00000359928,ENSG00000140464	ENST00000395135,ENSG00000140464	ENST00000417341,ENSG00000140464	ENST00000418568,ENSG00000140464	ENST00000268058,ENSG00000140464	NA	NA	NA	NA	Gat4-primary,1.5812	Hmbox1_2674,1.3199	Oaf1-DBD-primary,3.9747	Rdr1-DBD-primary,1.7979	Ydr520c-primary,2.0217	NA	NA	NA	NA	NA	NA	0.000	-0.045	-0.265	TF1	C	NA	NA	NA	NA	NA
15	74331211	rs1550434	NM_002675,PML	NM_033238,PML	NM_033249,PML	NM_033246,PML	ENST00000436891,ENSG00000140464	ENST00000359928,ENSG00000140464	ENST00000395135,ENSG00000140464	ENST00000417341,ENSG00000140464	ENST00000418568,ENSG00000140464	ENST00000268058,ENSG00000140464	NA	NA	NA	NA	Ndt80-primary,1.3656	Tec1-primary,1.391	Yap6-primary,4.1028	Foxd3,1.5388	FOXI1,3.1795	NA	NA	NA	NA	NA	NA	0.000	0.133	0.478	R5	C	NA	NA	NA	NA	NA
15	74331385	rs1550435	NM_002675,PML	NM_033238,PML	NM_033249,PML	NM_033246,PML	ENST00000436891,ENSG00000140464	ENST00000359928,ENSG00000140464	ENST00000395135,ENSG00000140464	ENST00000417341,ENSG00000140464	ENST00000418568,ENSG00000140464	ENST00000268058,ENSG00000140464	MCV-3	NA	NA	NA	LM28,2.4638	LM206,1.9779	En1,1.7966	HMG-1,1.8904	GGGTGGRR,1.2644	NA	NA	NA	NA	NA	NA	0.100	0.166	0.708	R5	C	NA	NA	NA	NA	NA
15	74332188	rs3784556	NM_002675,PML	NM_033238,PML	NM_033249,PML	NM_033246,PML	ENST00000436891,ENSG00000140464	ENST00000359928,ENSG00000140464	ENST00000395135,ENSG00000140464	ENST00000417341,ENSG00000140464	ENST00000418568,ENSG00000140464	ENST00000268058,ENSG00000140464	MCV-2	NA	NA	NA	Aft1-primary,1.6157	Cha4-primary,3.2707	Cha4-primary,53.0154	Gal4-primary,1.363	Rhox11_1765,24.7203	NA	NA	NA	NA	NA	NA	0.000	-0.106	-0.63	R5	A	NA	NA	NA	0.150	0.210
15	74333413	rs876383	NM_002675,PML	NM_033238,PML	NM_033249,PML	NM_033246,PML	ENST00000436891,ENSG00000140464	ENST00000359928,ENSG00000140464	ENST00000395135,ENSG00000140464	ENST00000417341,ENSG00000140464	ENST00000418568,ENSG00000140464	ENST00000268058,ENSG00000140464	CHMM	NA	NA	NA	Bsx_3483,3.4092	Gsm1-FL-primary,32.422	Hoxb6_3428,1.8642	Meox1_2310,4.6196	Mig2-primary,3.4318	NA	NA	NA	NA	NA	NA	0.000	-0.558	-2.5	R5	G	NA	NA	NA	0.360	0.360
15	74336633	rs5742915	NM_002675,PML	NM_033238,PML	NM_033249,PML	NM_033246,PML	ENST00000436891,ENSG00000140464	ENST00000359928,ENSG00000140464	ENST00000395135,ENSG00000140464	ENST00000417341,ENSG00000140464	ENST00000418568,ENSG00000140464	ENST00000268058,ENSG00000140464	MCV-8	NA	NA	NA	Nkx2-4_3074,4.7182	Pdr1-DBD-primary,1.8828	Rhox11_2205,2.0051	Skn7-primary,1.508	Titf1_1722,5.59	NA	NA	NA	PML,T,A,F,I,0.012,1,0.039319,0.025785	PML,T,C,F,L,0,0.9,0.039319,0.02556	PML,T,G,F,V,0.012,1,0.039319,0.081653	NA	NM_033238,TypeIII+,TTC->CTC,F->L,4.125	NM_033238,TypeIII-,TTC->CTC,F->L,4.222	0.058	-0.207	-3.26	TF2	T	NA	NA
15	74338939	rs6772	NM_033238,PML	ENST00000436891,ENSG00000140464	ENST00000417341,ENSG00000140464	ENST00000268058,ENSG00000140464	NA	NA	NA	NA	Gzf3-primary,1.603	Leu3-primary,1.9752	Rsc3-primary,8.9278	Rsc3-primary,1.6672	Ume6-primary,13.1228	NA	NA	NA	NA	NA	NA	0.001	0.132	0.499	R3	C	NA	NA	NA	NA	NA	NA	NA	NA	Transcript	3PRIME_UTR	804

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0012847	Epilepsia partialis continua	MP:0009278	abnormal bone marrow cell physiology;HP:0006775	Multiple myeloma

Chemical(Total Drugs:4)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0023524	cidofovir	C059262	113852-37-2	leukoencephalopathy, progressive multifocal	MESH:D007968	therapeutic	10460453
C0023524	cyclophosphamide	D003520	50-18-0	leukoencephalopathy, progressive multifocal	MESH:D007968	marker/mechanism	9149702
C0023524	cyclosporine	D016572	59865-13-3	leukoencephalopathy, progressive multifocal	MESH:D007968	marker/mechanism	7947043
C0023524	fluorouracil	D005472	51-21-8	leukoencephalopathy, progressive multifocal	MESH:D007968	marker/mechanism	8354144

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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