IIAE1
MCID: ENC060
MIFTS: 30

Encephalopathy, Acute, Infection-Induced 1 (IIAE1)

Categories: Genetic diseases, Infectious diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Encephalopathy, Acute, Infection-Induced 1

MalaCards integrated aliases for Encephalopathy, Acute, Infection-Induced 1:

Name: Encephalopathy, Acute, Infection-Induced 1 57
Herpes Simplex Encephalitis 1 57 72 29 6
Herpes Simplex Encephalitis, Susceptibility to, 1 57 13
Iiae1 57 72
Encephalopathy, Acute, Infection-Induced , Susceptibility to, 1 57
Encephalopathy, Acute, Infection-Induced, Herpes-Specific, 1 72
Herpes Simplex Encephalitis, Susceptibility to, Type 1 39
Encephalopathy, Acute, Infection-Induced, 1 72
Infection-Induced Acute Encephalopathy 1 72
Encephalitis, Herpes Simplex 44
Hse1 72

Characteristics:

HPO:

31
encephalopathy, acute, infection-induced 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 610551
OMIM Phenotypic Series 57 PS610551
MeSH 44 D020803
MedGen 41 C2750180
SNOMED-CT via HPO 68 258211005 428638009

Summaries for Encephalopathy, Acute, Infection-Induced 1

OMIM® : 57 Herpes simplex virus (HSV)-1 is most often associated with infection of the oral mucosa. Primary infection is most commonly asymptomatic, but it may lead to symptoms usually involving the mucosa and skin. Following replication at the infection site, HSV-1 enters the epithelial endings of sensory neurons and travels up the trigeminal cranial nerves to the trigeminal ganglia, where latent infection is established. Reactivation of HSV-1, usually in the form of herpes labialis (cold sores), may occur in 20 to 40% of the population. HSV-1 seroprevalence is high, with over 85% of adults between the ages of 20 and 40 years infected. HSV-1 rarely infects the central nervous system (CNS), resulting in herpes simplex encephalitis (HSE), with an incidence of 2 to 4 per 1,000,000 people per year. In HSE, HSV-1 invades and replicates in neurons and glial cells, where focal necrotizing infections occur, primarily affecting the temporal and subfrontal regions of the brain. Untreated, HSE is fatal in at least 70% of cases, although the mortality and morbidity have been drastically reduced with antiviral therapy. Approximately one-third of all HSE cases are due to primary infections, and 30% of all HSE cases occur in children under the age of 20 years. Among children, HSE peaks between 3 months and 3 years of age, coinciding with the time of primary infection. In a subset of children, HSE results from a series of monogenic primary immunodeficiencies that impair UNC93B1- and TLR3 (603029)-dependent production of IFNA (147660)/IFNB (147640) and IFNG (147570) in the CNS (summary by Sancho-Shimizu et al., 2007). (610551) (Updated 05-Apr-2021)

MalaCards based summary : Encephalopathy, Acute, Infection-Induced 1, also known as herpes simplex encephalitis 1, is related to encephalopathy, acute, infection-induced 2 and encephalopathy, acute, infection-induced 7. An important gene associated with Encephalopathy, Acute, Infection-Induced 1 is UNC93B1 (Unc-93 Homolog B1, TLR Signaling Regulator). The drugs Acyclovir and Dexamethasone acetate have been mentioned in the context of this disorder. Related phenotypes are recurrent herpes and herpes simplex encephalitis

UniProtKB/Swiss-Prot : 72 Encephalopathy, acute, infection-induced, Herpes-specific, 1: A rare complication of human herpesvirus 1 (HHV-1) infection, occurring in only a small minority of HHV-1 infected individuals. It is characterized by hemorrhagic necrosis of parts of the temporal and frontal lobes. Onset is over several days and involves fever, headache, seizures, stupor, and often coma, frequently with a fatal outcome.

Related Diseases for Encephalopathy, Acute, Infection-Induced 1

Graphical network of the top 20 diseases related to Encephalopathy, Acute, Infection-Induced 1:



Diseases related to Encephalopathy, Acute, Infection-Induced   1

Symptoms & Phenotypes for Encephalopathy, Acute, Infection-Induced 1

Human phenotypes related to Encephalopathy, Acute, Infection-Induced 1:

31
# Description HPO Frequency HPO Source Accession
1 recurrent herpes 31 HP:0005353
2 herpes simplex encephalitis 31 HP:0012302

Clinical features from OMIM®:

610551 (Updated 05-Apr-2021)

Drugs & Therapeutics for Encephalopathy, Acute, Infection-Induced 1

Drugs for Encephalopathy, Acute, Infection-Induced 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acyclovir Approved Phase 3 59277-89-3 2022
2
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
3
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
4 Anti-Infective Agents Phase 3
5 Antiviral Agents Phase 3
6 valacyclovir Phase 3
7 Gastrointestinal Agents Phase 3
8 Antiemetics Phase 3
9 Hormone Antagonists Phase 3
10 glucocorticoids Phase 3
11 Hormones Phase 3
12 Antineoplastic Agents, Hormonal Phase 3
13 Anti-Inflammatory Agents Phase 3
14 Immunoglobulins
15 Antibodies

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase III Double-Blind, Placebo-Controlled Trial of Long Term Therapy of Herpes Simplex Encephalitis (HSE): An Evaluation of Valacyclovir (CASG-204) Completed NCT00031486 Phase 3 Valacyclovir;Placebo
2 Dexamethasone in Herpes Simplex Virus Encephalitis Open Label Randomized Controlled Trial With an Observer-blinded Evaluation at 6 Months Recruiting NCT03084783 Phase 3 Dexamethasone
3 Study of 12 Cases of Autoimmune Encephalitis With Anti-NMDA Receptor Antibodies Following Herpetic Encephalitis and Review of the Literature Recruiting NCT04339127

Search NIH Clinical Center for Encephalopathy, Acute, Infection-Induced 1

Cochrane evidence based reviews: encephalitis, herpes simplex

Genetic Tests for Encephalopathy, Acute, Infection-Induced 1

Genetic tests related to Encephalopathy, Acute, Infection-Induced 1:

# Genetic test Affiliating Genes
1 Herpes Simplex Encephalitis 1 29 UNC93B1

Anatomical Context for Encephalopathy, Acute, Infection-Induced 1

Publications for Encephalopathy, Acute, Infection-Induced 1

Articles related to Encephalopathy, Acute, Infection-Induced 1:

# Title Authors PMID Year
1
Herpes simplex virus encephalitis in human UNC-93B deficiency. 57 6
16973841 2006
2
Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells. 57
23103873 2012
3
Genetic susceptibility to herpes simplex virus 1 encephalitis in mice and humans. 57
17989525 2007
4
Familial herpes simplex encephalitis. 57
11891839 2002
5
Familial herpes encephalitis. 57
8622435 1996
6
Familial herpes encephalitis. 57
7491057 1995
7
Two cases of herpes simplex virus encephalitis in the same family. 57
6855821 1983
8
Syndromes of Rapidly Progressive Cognitive Decline-Our Experience. 61
28936074 2017
9
Kluver-Bucy syndrome -- an experience with six cases. 61
15472430 2004

Variations for Encephalopathy, Acute, Infection-Induced 1

ClinVar genetic disease variations for Encephalopathy, Acute, Infection-Induced 1:

6 (show top 50) (show all 234)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UNC93B1 UNC93B1, 4-BP DEL, 1034CTTT Deletion risk factor 2486 GRCh37:
GRCh38:
2 UNC93B1 NM_030930.4(UNC93B1):c.781G>A (p.Gly261Ser) SNV risk factor 2487 rs780094017 GRCh37: 11:67765829-67765829
GRCh38: 11:67998359-67998359
3 TLR3 NM_003265.2(TLR3):c.1378G>A (p.Glu460Lys) SNV Uncertain significance 639925 rs144550375 GRCh37: 4:187004218-187004218
GRCh38: 4:186083064-186083064
4 TLR3 NM_003265.2(TLR3):c.1559A>G (p.Asn520Ser) SNV Uncertain significance 639936 rs1051348300 GRCh37: 4:187004399-187004399
GRCh38: 4:186083245-186083245
5 UNC93B1 NM_030930.4(UNC93B1):c.1138G>A (p.Val380Met) SNV Uncertain significance 641756 rs763186957 GRCh37: 11:67763307-67763307
GRCh38: 11:67995836-67995836
6 UNC93B1 NM_030930.4(UNC93B1):c.1121G>A (p.Arg374Gln) SNV Uncertain significance 642175 rs1346342774 GRCh37: 11:67763324-67763324
GRCh38: 11:67995853-67995853
7 TLR3 NM_003265.2(TLR3):c.1072G>A (p.Glu358Lys) SNV Uncertain significance 644312 rs1579731157 GRCh37: 4:187003912-187003912
GRCh38: 4:186082758-186082758
8 UNC93B1 NM_030930.4(UNC93B1):c.1657G>A (p.Glu553Lys) SNV Uncertain significance 644480 rs1433957500 GRCh37: 11:67759154-67759154
GRCh38: 11:67991683-67991683
9 TLR3 NM_003265.2(TLR3):c.1430C>T (p.Ala477Val) SNV Uncertain significance 646571 rs1579731513 GRCh37: 4:187004270-187004270
GRCh38: 4:186083116-186083116
10 TLR3 NM_003265.2(TLR3):c.71C>T (p.Ser24Phe) SNV Uncertain significance 647020 rs772953712 GRCh37: 4:186997844-186997844
GRCh38: 4:186076690-186076690
11 UNC93B1 NM_030930.4(UNC93B1):c.586T>C (p.Tyr196His) SNV Uncertain significance 647061 rs1590762298 GRCh37: 11:67766744-67766744
GRCh38: 11:67999274-67999274
12 UNC93B1 NM_030930.4(UNC93B1):c.1703G>A (p.Gly568Glu) SNV Uncertain significance 650678 rs2375181 GRCh37: 11:67759108-67759108
GRCh38: 11:67991637-67991637
13 UNC93B1 NM_030930.4(UNC93B1):c.818A>G (p.Lys273Arg) SNV Uncertain significance 650779 rs1318077413 GRCh37: 11:67765233-67765233
GRCh38: 11:67997763-67997763
14 TLR3 NM_003265.2(TLR3):c.442-6C>G SNV Uncertain significance 656183 rs371056976 GRCh37: 4:186999988-186999988
GRCh38: 4:186078834-186078834
15 TLR3 NM_003265.2(TLR3):c.266A>C (p.Lys89Thr) SNV Uncertain significance 656378 rs967601262 GRCh37: 4:186998039-186998039
GRCh38: 4:186076885-186076885
16 TLR3 NM_003265.3(TLR3):c.585del (p.Asn196fs) Deletion Uncertain significance 660033 rs1219003162 GRCh37: 4:187000136-187000136
GRCh38: 4:186078982-186078982
17 UNC93B1 NM_030930.4(UNC93B1):c.1482+2T>A SNV Uncertain significance 660100 rs1590758630 GRCh37: 11:67761145-67761145
GRCh38: 11:67993674-67993674
18 UNC93B1 NM_030930.4(UNC93B1):c.1726G>C (p.Ala576Pro) SNV Uncertain significance 663159 rs1330076422 GRCh37: 11:67759085-67759085
GRCh38: 11:67991614-67991614
19 UNC93B1 NM_030930.4(UNC93B1):c.1303C>A (p.Leu435Ile) SNV Uncertain significance 663535 rs1454865897 GRCh37: 11:67763142-67763142
GRCh38: 11:67995671-67995671
20 UNC93B1 NM_030930.4(UNC93B1):c.491C>T (p.Ser164Leu) SNV Uncertain significance 665493 rs201765730 GRCh37: 11:67767052-67767052
GRCh38: 11:67999582-67999582
21 TLR3 NM_003265.2(TLR3):c.205G>A (p.Ala69Thr) SNV Uncertain significance 665949 rs762922535 GRCh37: 4:186997978-186997978
GRCh38: 4:186076824-186076824
22 UNC93B1 NM_030930.4(UNC93B1):c.409T>C (p.Trp137Arg) SNV Uncertain significance 470498 rs1554985993 GRCh37: 11:67767134-67767134
GRCh38: 11:67999664-67999664
23 UNC93B1 NM_030930.4(UNC93B1):c.923G>C (p.Gly308Ala) SNV Uncertain significance 537918 rs1442000007 GRCh37: 11:67764239-67764239
GRCh38: 11:67996768-67996768
24 TLR3 NM_003265.2(TLR3):c.655G>A (p.Ala219Thr) SNV Uncertain significance 567930 rs192016427 GRCh37: 4:187003495-187003495
GRCh38: 4:186082341-186082341
25 TLR3 NC_000004.11:g.(?_186997754)_(187006047_?)dup Duplication Uncertain significance 583483 GRCh37: 4:186997754-187006047
GRCh38: 4:186076600-186084893
26 UNC93B1 NC_000011.9:g.(?_67758997)_(67759348_?)dup Duplication Uncertain significance 647947 GRCh37: 11:67758997-67759348
GRCh38: 11:67991526-67991877
27 UNC93B1 NM_030930.4(UNC93B1):c.1640C>T (p.Ser547Leu) SNV Uncertain significance 842740 GRCh37: 11:67759171-67759171
GRCh38: 11:67991700-67991700
28 TLR3 NM_003265.3(TLR3):c.1984A>C (p.Asn662His) SNV Uncertain significance 843484 GRCh37: 4:187004824-187004824
GRCh38: 4:186083670-186083670
29 TLR3 NM_003265.3(TLR3):c.1613A>C (p.Gln538Pro) SNV Uncertain significance 845774 GRCh37: 4:187004453-187004453
GRCh38: 4:186083299-186083299
30 TLR3 NM_003265.3(TLR3):c.1012A>G (p.Ile338Val) SNV Uncertain significance 847435 GRCh37: 4:187003852-187003852
GRCh38: 4:186082698-186082698
31 UNC93B1 NM_030930.4(UNC93B1):c.532T>G (p.Ser178Ala) SNV Uncertain significance 850695 GRCh37: 11:67767011-67767011
GRCh38: 11:67999541-67999541
32 TLR3 NM_003265.3(TLR3):c.2710C>T (p.His904Tyr) SNV Uncertain significance 856926 GRCh37: 4:187006022-187006022
GRCh38: 4:186084868-186084868
33 UNC93B1 NM_030930.4(UNC93B1):c.1661G>A (p.Gly554Asp) SNV Uncertain significance 470493 rs2375179 GRCh37: 11:67759150-67759150
GRCh38: 11:67991679-67991679
34 TLR3 NM_003265.2(TLR3):c.1489A>G (p.Ser497Gly) SNV Uncertain significance 537920 rs369886993 GRCh37: 4:187004329-187004329
GRCh38: 4:186083175-186083175
35 TLR3 NM_003265.2(TLR3):c.1660C>T (p.Pro554Ser) SNV Uncertain significance 6662 rs121434431 GRCh37: 4:187004500-187004500
GRCh38: 4:186083346-186083346
36 UNC93B1 NM_030930.4(UNC93B1):c.1768G>A (p.Gly590Arg) SNV Uncertain significance 577794 rs2375182 GRCh37: 11:67759043-67759043
GRCh38: 11:67991572-67991572
37 TLR3 NM_003265.2(TLR3):c.2654G>A (p.Arg885Gln) SNV Uncertain significance 647522 rs759137034 GRCh37: 4:187005966-187005966
GRCh38: 4:186084812-186084812
38 UNC93B1 NM_030930.4(UNC93B1):c.998A>G (p.Lys333Arg) SNV Uncertain significance 651185 rs763133366 GRCh37: 11:67764164-67764164
GRCh38: 11:67996693-67996693
39 TLR3 NM_003265.2(TLR3):c.2384C>T (p.Ala795Val) SNV Uncertain significance 652556 rs373118024 GRCh37: 4:187005224-187005224
GRCh38: 4:186084070-186084070
40 UNC93B1 NM_030930.4(UNC93B1):c.1777G>A (p.Gly593Arg) SNV Uncertain significance 834530 GRCh37: 11:67759034-67759034
GRCh38: 11:67991563-67991563
41 UNC93B1 NM_030930.4(UNC93B1):c.1205C>T (p.Pro402Leu) SNV Uncertain significance 836872 GRCh37: 11:67763240-67763240
GRCh38: 11:67995769-67995769
42 UNC93B1 NM_030930.4(UNC93B1):c.96+3G>A SNV Uncertain significance 841496 GRCh37: 11:67771415-67771415
GRCh38: 11:68003945-68003945
43 TLR3 NM_003265.3(TLR3):c.458A>C (p.Asp153Ala) SNV Uncertain significance 843486 GRCh37: 4:187000010-187000010
GRCh38: 4:186078856-186078856
44 TLR3 NM_003265.3(TLR3):c.2405C>A (p.Ala802Glu) SNV Uncertain significance 844956 GRCh37: 4:187005245-187005245
GRCh38: 4:186084091-186084091
45 TLR3 NM_003265.3(TLR3):c.1986C>G (p.Asn662Lys) SNV Uncertain significance 852096 GRCh37: 4:187004826-187004826
GRCh38: 4:186083672-186083672
46 TLR3 NM_003265.3(TLR3):c.2516C>A (p.Ala839Asp) SNV Uncertain significance 857409 GRCh37: 4:187005828-187005828
GRCh38: 4:186084674-186084674
47 UNC93B1 NM_030930.4(UNC93B1):c.758C>T (p.Thr253Met) SNV Uncertain significance 860383 GRCh37: 11:67765852-67765852
GRCh38: 11:67998382-67998382
48 UNC93B1 NM_030930.4(UNC93B1):c.640G>A (p.Ala214Thr) SNV Uncertain significance 862473 GRCh37: 11:67766690-67766690
GRCh38: 11:67999220-67999220
49 UNC93B1 NM_030930.4(UNC93B1):c.1363+4A>C SNV Uncertain significance 946914 GRCh37: 11:67763078-67763078
GRCh38: 11:67995607-67995607
50 TLR3 NM_003265.3(TLR3):c.2068C>A (p.Leu690Ile) SNV Uncertain significance 954829 GRCh37: 4:187004908-187004908
GRCh38: 4:186083754-186083754

Expression for Encephalopathy, Acute, Infection-Induced 1

Search GEO for disease gene expression data for Encephalopathy, Acute, Infection-Induced 1.

Pathways for Encephalopathy, Acute, Infection-Induced 1

GO Terms for Encephalopathy, Acute, Infection-Induced 1

Sources for Encephalopathy, Acute, Infection-Induced 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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45 MESH via Orphanet
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53 NINDS
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56 OMIM via Orphanet
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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