RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Herpes Simplex Encephalitis
Accession: DOID:9003870
browse the term
Definition: An acute (or rarely chronic) inflammatory process of the brain caused by SIMPLEXVIRUS infections which may be fatal. The majority of infections are caused by human herpesvirus 1 (HERPESVIRUS 1, HUMAN) and less often by human herpesvirus 2 (HERPESVIRUS 2, HUMAN). Clinical manifestations include FEVER; HEADACHE; SEIZURES; HALLUCINATIONS; behavioral alterations; APHASIA; hemiparesis; and COMA. Pathologically, the condition is marked by a hemorrhagic necrosis involving the medial and inferior TEMPORAL LOBE and orbital regions of the FRONTAL LOBE. (From Adams et al., Principles of Neurology, 6th ed, pp751-4)
Synonyms: exact_synonym: Herpes Simplex Encephalitides; Herpes Simplex Meningoencephalitides; Herpes Simplex Meningoencephalitis; Herpetic Acute Necrotizing Encephalitis; Herpetic Encephalitides; Herpetic Encephalitis; Herpetic Meningoencephalitides; Herpetic Meningoencephalitis; herpes encephalitis; meningoencephalitis, herpes simplex virus
primary_id: MESH:D020803
xref: NCI:C84762
G
APOE
apolipoprotein E
susceptibility
ISO
DNA:polymorphism:exon:
RGD
PMID:11118260
RGD:7771554
NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
G
AQP4
aquaporin 4
ISO
RGD
PMID:17454447
RGD:8698664
NCBI chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919
G
CALCA
calcitonin related polypeptide alpha
treatment
ISO
RGD
PMID:22761571
RGD:7240516
NCBI chr11:15,055,897...15,061,539
Ensembl chr11:14,745,588...14,751,267
G
CALCR
calcitonin receptor
treatment
ISO
RGD
PMID:22761571
RGD:7240516
NCBI chr 7:85,382,167...85,532,562
Ensembl chr 7:98,975,906...99,047,162
G
CCR2
C-C motif chemokine receptor 2
ISO
RGD
PMID:22377584
RGD:8661752
NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
G
CCR5
C-C motif chemokine receptor 5
ISO
RGD
PMID:23391218
RGD:8551839
NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
G
CX3CR1
C-X3-C motif chemokine receptor 1
ISO
RGD
PMID:22377584
RGD:8661752
NCBI chr 3:39,158,346...39,176,604
Ensembl chr 3:39,440,955...39,457,219
G
GDNF
glial cell derived neurotrophic factor
ISO
mRNA:increased expression:brain:
RGD
PMID:15950786
RGD:8657070
NCBI chr 5:72,539,374...72,566,918
Ensembl chr 5:77,577,313...77,601,362
G
IL1RL1
interleukin 1 receptor like 1
severity
ISO
RGD
PMID:26872602
RGD:39939003
G
IRF3
interferon regulatory factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr19:46,674,193...46,680,464
Ensembl chr19:55,593,627...55,599,903
G
LTA
lymphotoxin alpha
ISO
RGD
PMID:11145686
RGD:8548806
NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375
G
MMP2
matrix metallopeptidase 2
ISO
protein:increased activity:brain
RGD
PMID:15364410
RGD:8547868
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
G
MMP9
matrix metallopeptidase 9
treatment
ISO
protein:increased activity:brain
RGD
PMID:15364410 PMID:20483026
RGD:8547867 RGD:8547868
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
G
STAT4
signal transducer and activator of transcription 4
susceptibility
ISO
RGD
PMID:17266445
RGD:8661706
NCBI chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011
G
TICAM1
TIR domain containing adaptor molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr19:3,836,100...3,852,017
Ensembl chr19:4,787,557...4,790,206
G
TLR2
toll like receptor 2
disease_progression
ISO
RGD
PMID:14739339 PMID:20806060
RGD:5130178 RGD:8553026
NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
G
TLR3
toll like receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 4:178,238,352...178,256,264
Ensembl chr 4:190,446,487...190,462,728
G
TLR4
toll like receptor 4
ISO
RGD
PMID:20806060
RGD:5130178
NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
G
TRAF3
TNF receptor associated factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr14:83,392,689...83,530,974
Ensembl chr14:103,263,440...103,340,670
G
UNC93B1
unc-93 homolog B1, TLR signaling regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr11:63,073,076...63,086,078
Ensembl chr11:66,382,059...66,394,541
G
ANKRD37
ankyrin repeat domain 37
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:177,559,012...177,563,343
Ensembl chr 4:189,776,184...189,780,053
G
CCDC110
coiled-coil domain containing 110
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:177,608,169...177,634,974
Ensembl chr 4:189,824,586...189,850,715
G
CFAP96
cilia and flagella associated protein 96
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:177,589,308...177,612,834
Ensembl chr 4:189,805,849...189,828,919
G
CFAP97
cilia and flagella associated protein 97
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:177,327,415...177,371,772
Ensembl chr 4:189,546,941...189,589,810
G
CYP4V2
cytochrome P450 family 4 subfamily V member 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:178,361,611...178,384,381
Ensembl chr 4:190,568,743...190,588,025
G
F11
coagulation factor XI
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:178,436,865...178,459,568
Ensembl chr 4:190,643,733...190,666,512
G
FAM149A
family with sequence similarity 149 member A
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:178,274,672...178,342,560
Ensembl chr 4:190,482,894...190,549,952
G
FAT1
FAT atypical cadherin 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:178,752,261...178,895,038
Ensembl chr 4:190,952,737...191,093,357
G
KLKB1
kallikrein B1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:178,398,359...178,429,448
Ensembl chr 4:190,604,901...190,636,300
G
LRP2BP
LRP2 binding protein
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:177,529,513...177,545,480
Ensembl chr 4:189,746,497...189,775,621
G
MTNR1A
melatonin receptor 1A
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:178,693,869...178,720,351
Ensembl chr 4:190,897,192...190,921,677
G
PDLIM3
PDZ and LIM domain 3
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:177,664,420...177,698,364
Ensembl chr 4:189,880,938...189,914,707
G
SLC25A4
solute carrier family 25 member 4
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:177,310,982...177,315,016
Ensembl chr 4:189,531,914...189,534,549
G
SNX25
sorting nexin 25
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:177,377,302...177,529,601
Ensembl chr 4:189,631,239...189,746,590
G
SORBS2
sorbin and SH3 domain containing 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:177,751,089...178,125,937
Ensembl chr 4:189,965,729...190,070,543
G
TBK1
TANK binding kinase 1
ISO
ClinVar Annotator: match by term: HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1
ClinVar
PMID:25700176 PMID:25741868 PMID:25803835 PMID:26476236 PMID:26581300 PMID:28492532 More...
NCBI chr12:24,419,271...24,469,164
Ensembl chr12:24,917,246...24,968,587
G
TLR3
toll like receptor 3
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis 1 | ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:9536098 PMID:15042513 PMID:16199547 PMID:17434873 PMID:17576681 PMID:17872438 PMID:19625408 PMID:19763152 PMID:20307669 PMID:20472559 PMID:20855885 PMID:21911422 PMID:22174453 PMID:22406018 PMID:24033266 PMID:25118264 PMID:25339207 PMID:25629076 PMID:25741868 PMID:26193622 PMID:26513235 PMID:27872624 PMID:28046022 PMID:28368532 PMID:28492532 PMID:29217828 PMID:29305044 PMID:31217193 PMID:31268141 PMID:32936395 PMID:33174085 PMID:34813006 More...
NCBI chr 4:178,238,352...178,256,264
Ensembl chr 4:190,446,487...190,462,728
G
UFSP2
UFM1 specific peptidase 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:177,562,642...177,589,312
Ensembl chr 4:189,779,242...189,805,572
G
UNC93B1
unc-93 homolog B1, TLR signaling regulator
susceptibility
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis 1 | ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:16973841 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr11:63,073,076...63,086,078
Ensembl chr11:66,382,059...66,394,541
G
AMN
amnion associated transmembrane protein
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:83,541,891...83,550,346
Ensembl chr14:103,356,773...103,365,352
G
TRAF3
TNF receptor associated factor 3
susceptibility
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 | ClinVar Annotator: match by term: TRAF3 haploinsufficiency | ClinVar Annotator: match by term: TRAF3-related condition
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31681265 PMID:35960817 PMID:36004314 More...
NCBI chr14:83,392,689...83,530,974
Ensembl chr14:103,263,440...103,340,670
G
TICAM1
TIR domain containing adaptor molecule 1
susceptibility
ISO
ClinVar Annotator: match by term: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 4
OMIM ClinVar
PMID:22105173 PMID:24033266 PMID:25741868 PMID:26513235 PMID:28492532
NCBI chr19:3,836,100...3,852,017
Ensembl chr19:4,787,557...4,790,206
G
IRF3
interferon regulatory factor 3
susceptibility
ISO
ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7
OMIM ClinVar
PMID:25741868 PMID:26216125 PMID:26513235 PMID:28492532
NCBI chr19:46,674,193...46,680,464
Ensembl chr19:55,593,627...55,599,903
G
TLR3
toll like receptor 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 83, susceptibility to viral infections
ClinVar OMIM
PMID:17872438 PMID:19625408 PMID:20472559 PMID:20855885 PMID:21911422 PMID:22174453 PMID:24033266 PMID:25339207 PMID:25741868 PMID:26193622 PMID:26513235 PMID:28046022 PMID:28368532 PMID:28492532 PMID:29217828 PMID:29305044 PMID:31217193 PMID:31268141 PMID:32936395 PMID:33174085 PMID:34813006 More...
NCBI chr 4:178,238,352...178,256,264
Ensembl chr 4:190,446,487...190,462,728
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all