IIAE8
MCID: ENC064
MIFTS: 22

Encephalopathy, Acute, Infection-Induced 8 (IIAE8)

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

Aliases & Classifications for Encephalopathy, Acute, Infection-Induced 8

MalaCards integrated aliases for Encephalopathy, Acute, Infection-Induced 8:

Name: Encephalopathy, Acute, Infection-Induced 8 57
Encephalopathy, Acute, Infection-Induced , Susceptibility to, 8 57 29 6
Herpes Simplex Encephalitis 6 57 72
Iiae8 57 72
Encephalopathy, Acute, Infection-Induced, Herpes-Specific, 8 72
Herpes Simplex Encephalitis, Susceptibility to, 6 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
incomplete penetrance
variable phenotype
variable age at onset (range childhood to adult)
patients have localized brain involvement without systemic involvement
favorable response to acyclovir

Inheritance:
autosomal dominant


HPO:

31
encephalopathy, acute, infection-induced 8:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



Summaries for Encephalopathy, Acute, Infection-Induced 8

UniProtKB/Swiss-Prot : 72 Encephalopathy, acute, infection-induced, herpes-specific, 8: A rare, often fatal complication of herpes simplex infection, caused by virus spreading in the central nervous system. Disease manifestations include low-grade fever, severe headache, nausea, vomiting, and lethargy. Neurological features include confusion, acute memory disturbances, disorientation, behavioral changes, hemiparesis and seizures.

MalaCards based summary : Encephalopathy, Acute, Infection-Induced 8, is also known as encephalopathy, acute, infection-induced , susceptibility to, 8. An important gene associated with Encephalopathy, Acute, Infection-Induced 8 is TBK1 (TANK Binding Kinase 1). Affiliated tissues include brain, and related phenotypes are eeg abnormality and mental deterioration

More information from OMIM: 617900 PS610551

Related Diseases for Encephalopathy, Acute, Infection-Induced 8

Symptoms & Phenotypes for Encephalopathy, Acute, Infection-Induced 8

Human phenotypes related to Encephalopathy, Acute, Infection-Induced 8:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 eeg abnormality 31 HP:0002353
2 mental deterioration 31 HP:0001268
3 meningitis 31 HP:0001287
4 lethargy 31 HP:0001254
5 hemiparesis 31 HP:0001269
6 confusion 31 HP:0001289
7 herpes simplex encephalitis 31 HP:0012302
8 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
meningitis
lethargy
hemiparesis
confusion
more
Skin Nails Hair Skin:
absence of skin lesions

Immunology:
episodic hse
positive hsv-1 antibodies in serum and csf
hsv-1 virus detected in csf
impaired production of anti-viral interferon in response to stimulation
patients have specific susceptibility to hsv-1 and hsv-2 infection, but not to other viruses, bacteria, or fungal agents

Clinical features from OMIM®:

617900 (Updated 05-Apr-2021)

Drugs & Therapeutics for Encephalopathy, Acute, Infection-Induced 8

Search Clinical Trials , NIH Clinical Center for Encephalopathy, Acute, Infection-Induced 8

Genetic Tests for Encephalopathy, Acute, Infection-Induced 8

Genetic tests related to Encephalopathy, Acute, Infection-Induced 8:

# Genetic test Affiliating Genes
1 Encephalopathy, Acute, Infection-Induced (herpes-Specific), Susceptibility to, 8 29 TBK1

Anatomical Context for Encephalopathy, Acute, Infection-Induced 8

MalaCards organs/tissues related to Encephalopathy, Acute, Infection-Induced 8:

40
Brain

Publications for Encephalopathy, Acute, Infection-Induced 8

Articles related to Encephalopathy, Acute, Infection-Induced 8:

# Title Authors PMID Year
1
Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis. 57 6
26513235 2015
2
Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood. 57 6
22851595 2012
3
Acute retinal necrosis six years after herpes simplex encephalitis: an elusive immune deficit suggested by insufficient test sensitivity. 61
15122800 2004

Variations for Encephalopathy, Acute, Infection-Induced 8

ClinVar genetic disease variations for Encephalopathy, Acute, Infection-Induced 8:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBK1 NM_013254.4(TBK1):c.992+1G>A SNV Pathogenic 807707 rs1341055534 GRCh37: 12:64875802-64875802
GRCh38: 12:64482022-64482022
2 TBK1 NM_013254.4(TBK1):c.149A>C (p.Asp50Ala) SNV risk factor 495316 rs1010930015 GRCh37: 12:64854030-64854030
GRCh38: 12:64460250-64460250
3 TBK1 NM_013254.4(TBK1):c.619A>G (p.Ile207Val) SNV risk factor 495317 rs1555203557 GRCh37: 12:64868088-64868088
GRCh38: 12:64474308-64474308
4 TBK1 NM_013254.4(TBK1):c.476G>C (p.Gly159Ala) SNV risk factor 495315 rs1555202947 GRCh37: 12:64860798-64860798
GRCh38: 12:64467018-64467018
5 TBK1 NM_013254.4(TBK1):c.400C>T (p.Arg134Cys) SNV Uncertain significance 828157 rs1592358092 GRCh37: 12:64860722-64860722
GRCh38: 12:64466942-64466942
6 TBK1 NM_013254.4(TBK1):c.965A>T (p.His322Leu) SNV Uncertain significance 930748 GRCh37: 12:64875774-64875774
GRCh38: 12:64481994-64481994

UniProtKB/Swiss-Prot genetic disease variations for Encephalopathy, Acute, Infection-Induced 8:

72
# Symbol AA change Variation ID SNP ID
1 TBK1 p.Asp50Ala VAR_080517 rs101093001
2 TBK1 p.Gly159Ala VAR_080518 rs155520294

Expression for Encephalopathy, Acute, Infection-Induced 8

Search GEO for disease gene expression data for Encephalopathy, Acute, Infection-Induced 8.

Pathways for Encephalopathy, Acute, Infection-Induced 8

GO Terms for Encephalopathy, Acute, Infection-Induced 8

Sources for Encephalopathy, Acute, Infection-Induced 8

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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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