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 74
Iiae8 57 74
Encephalopathy, Acute, Infection-Induced, Herpes-Specific, 8 74
Herpes Simplex Encephalitis, Susceptibility to, 6 57

Characteristics:

OMIM:

57
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:

32
encephalopathy, acute, infection-induced 8:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

MeSH 44 D018792

Summaries for Encephalopathy, Acute, Infection-Induced 8

UniProtKB/Swiss-Prot : 74 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, skin and testes, and related phenotypes are seizures and eeg abnormality

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:

32 (showing 8, show less)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 eeg abnormality 32 HP:0002353
3 mental deterioration 32 HP:0001268
4 confusion 32 HP:0001289
5 meningitis 32 HP:0001287
6 lethargy 32 HP:0001254
7 hemiparesis 32 HP:0001269
8 herpes simplex encephalitis 32 HP:0012302

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
confusion
meningitis
lethargy
hemiparesis
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

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:

41
Brain, Skin, Testes

Publications for Encephalopathy, Acute, Infection-Induced 8

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

(showing 3, show less)
# Title Authors PMID Year
1
Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis. 8 71
26513235 2015
2
Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood. 8 71
22851595 2012
3
Acute retinal necrosis six years after herpes simplex encephalitis: an elusive immune deficit suggested by insufficient test sensitivity. 38
15122800 2004

Variations for Encephalopathy, Acute, Infection-Induced 8

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

6 (showing 3, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TBK1 NM_013254.4(TBK1): c.476G> C (p.Gly159Ala) single nucleotide variant risk factor rs1555202947 12:64860798-64860798 12:64467018-64467018
2 TBK1 NM_013254.4(TBK1): c.149A> C (p.Asp50Ala) single nucleotide variant risk factor rs1010930015 12:64854030-64854030 12:64460250-64460250
3 TBK1 NM_013254.4(TBK1): c.619A> G (p.Ile207Val) single nucleotide variant risk factor rs1555203557 12:64868088-64868088 12:64474308-64474308

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

74 (showing 2, show less)
# 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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