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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   progressive multifocal leukoencephalopathy
  

Disease ID 351
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
OMIM
DOID
ICD10
UMLS
C0023524
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:36)
C0026769  |  multiple sclerosis  |  22
C0024299  |  lymphoma  |  6
C0019829  |  hodgkin lymphoma  |  5
C0024305  |  non-hodgkin lymphoma  |  4
C0221027  |  good's syndrome  |  3
C0003873  |  rheumatoid arthritis  |  3
C0010346  |  crohn's disease  |  3
C0023434  |  chronic lymphocytic leukemia  |  2
C0409974  |  lupus erythematosus  |  2
C0009447  |  common variable immunodeficiency  |  2
C0042769  |  virus infection  |  2
C0021053  |  immune disease  |  2
C0024141  |  systemic lupus erythematosus  |  2
C0026764  |  multiple myeloma  |  2
C0023891  |  alcoholic cirrhosis  |  1
C0751967  |  relapsing-remitting multiple sclerosis  |  1
C0376545  |  hematological malignancy  |  1
C0023470  |  myeloid leukaemia  |  1
C0022658  |  nephropathy  |  1
C0024419  |  waldenstrom macroglobulinemia  |  1
C0206744  |  cd4 lymphocytopenia  |  1
C0036920  |  sezary syndrome  |  1
C0038220  |  status epilepticus  |  1
C0003864  |  arthritis  |  1
C0023418  |  leukaemia  |  1
C0035435  |  rheumatic diseases  |  1
C0008312  |  primary biliary cirrhosis  |  1
C0024299  |  malignant lymphoma  |  1
C0023448  |  lymphocytic leukemia  |  1
C0026986  |  myelodysplastic syndrome  |  1
C0035435  |  rheumatic disease  |  1
C0021831  |  intestinal disease  |  1
C0036205  |  pulmonary sarcoidosis  |  1
C0008312  |  biliary cirrhosis  |  1
C0023467  |  acute myeloid leukaemia  |  1
C0017178  |  gastrointestinal disease  |  1
Curated Gene(Waiting for update.)
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:1)
7157  |  TP53  |  CIPHER
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:61)
240  |  ALOX5  |  1.985  |  DISEASES
573  |  BAG1  |  2.021  |  DISEASES
9531  |  BAG3  |  2.727  |  DISEASES
388372  |  CCL4L1  |  1.34  |  DISEASES
1237  |  CCR8  |  1.479  |  DISEASES
10803  |  CCR9  |  1.303  |  DISEASES
930  |  CD19  |  2.239  |  DISEASES
50489  |  CD207  |  1.08  |  DISEASES
959  |  CD40LG  |  1.841  |  DISEASES
1043  |  CD52  |  2.069  |  DISEASES
1499  |  CTNNB1  |  1.102  |  DISEASES
399697  |  CTXN2  |  3.173  |  DISEASES
2833  |  CXCR3  |  1.644  |  DISEASES
199699  |  DAND5  |  1.267  |  DISEASES
81704  |  DOCK8  |  2.398  |  DISEASES
2060  |  EPS15  |  1.873  |  DISEASES
8928  |  FOXH1  |  1.917  |  DISEASES
5348  |  FXYD1  |  2.168  |  DISEASES
3356  |  HTR2A  |  3.789  |  DISEASES
3434  |  IFIT1  |  1.498  |  DISEASES
3456  |  IFNB1  |  4.823  |  DISEASES
3476  |  IGBP1  |  4.116  |  DISEASES
3605  |  IL17A  |  1.115  |  DISEASES
10379  |  IRF9  |  1.707  |  DISEASES
3676  |  ITGA4  |  3.397  |  DISEASES
3683  |  ITGAL  |  2.851  |  DISEASES
10219  |  KLRG1  |  1.907  |  DISEASES
4099  |  MAG  |  2.147  |  DISEASES
4155  |  MBP  |  3.529  |  DISEASES
4204  |  MECP2  |  1.085  |  DISEASES
56955  |  MEPE  |  1.394  |  DISEASES
10608  |  MXD4  |  5.916  |  DISEASES
4763  |  NF1  |  2.67  |  DISEASES
246734  |  NPCDR1  |  1.999  |  DISEASES
4948  |  OCA2  |  1.016  |  DISEASES
5450  |  POU2AF1  |  2.686  |  DISEASES
5453  |  POU3F1  |  2.823  |  DISEASES
5813  |  PURA  |  4.32  |  DISEASES
5888  |  RAD51  |  1.691  |  DISEASES
146713  |  RBFOX3  |  1.194  |  DISEASES
55147  |  RBM23  |  3.053  |  DISEASES
9939  |  RBM8A  |  3.036  |  DISEASES
91543  |  RSAD2  |  1.94  |  DISEASES
404552  |  SCGB1D4  |  2.747  |  DISEASES
23583  |  SMUG1  |  1.685  |  DISEASES
6663  |  SOX10  |  1.622  |  DISEASES
6664  |  SOX11  |  1.327  |  DISEASES
6672  |  SP100  |  1.132  |  DISEASES
6689  |  SPIB  |  4.629  |  DISEASES
23648  |  SSBP3  |  1.345  |  DISEASES
6772  |  STAT1  |  1.382  |  DISEASES
7042  |  TGFB2  |  1.187  |  DISEASES
7124  |  TNF  |  3.106  |  DISEASES
7133  |  TNFRSF1B  |  2.722  |  DISEASES
10673  |  TNFSF13B  |  1.037  |  DISEASES
7150  |  TOP1  |  2.01  |  DISEASES
9094  |  UNC119  |  3.265  |  DISEASES
7441  |  VPREB1  |  1.33  |  DISEASES
4904  |  YBX1  |  1.773  |  DISEASES
9278  |  ZBTB22  |  1.257  |  DISEASES
26036  |  ZNF451  |  2.027  |  DISEASES
Locus(Waiting for update.)
Disease ID 351
Disease progressive multifocal leukoencephalopathy
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:28)
HP:0002665  |  Lymphoma  |  6
HP:0012189  |  Hodgkin disease  |  5
HP:0002721  |  Immunodeficiency  |  4
HP:0012539  |  Non-Hodgkin lymphoma  |  4
HP:0006775  |  Multiple myeloma  |  3
HP:0001370  |  Rheumatoid arthritis  |  3
HP:0100280  |  Morbus Crohn  |  3
HP:0002725  |  Systemic lupus erythematosus  |  2
HP:0002960  |  Autoimmune condition  |  2
HP:0005550  |  Chronic lymphatic leukemia  |  2
HP:0011096  |  Demyelination  |  1
HP:0009733  |  Glioma  |  1
HP:0002169  |  Clonus  |  1
HP:0001369  |  Arthritis  |  1
HP:0000112  |  Nephropathy  |  1
HP:0000572  |  Visual loss  |  1
HP:0011448  |  Ankle clonus  |  1
HP:0002863  |  Myelodysplastic syndrome  |  1
HP:0001410  |  Decreased liver function  |  1
HP:0001888  |  Lymphocytopenia  |  1
HP:0100543  |  Cognitive deficits  |  1
HP:0002133  |  Status epilepticus  |  1
HP:0000969  |  Dropsy  |  1
HP:0012115  |  Liver inflammation  |  1
HP:0001337  |  Tremor  |  1
HP:0005403  |  Decreased numbers of circulating T cells  |  1
HP:0002613  |  Biliary cirrhosis  |  1
HP:0005508  |  Waldenstrom macroglobulinemia  |  1
Disease ID 351
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
C0042769  |  virus infection  |  3
C0026764  |  multiple myeloma  |  3
C0857836  |  jc virus infection  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
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:0)
(Waiting for update.)
Disease ID 351
Disease progressive multifocal leukoencephalopathy
Case(Waiting for update.)