IIAE7
MCID: ENC063
MIFTS: 20

Encephalopathy, Acute, Infection-Induced 7 (IIAE7)

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

Aliases & Classifications for Encephalopathy, Acute, Infection-Induced 7

MalaCards integrated aliases for Encephalopathy, Acute, Infection-Induced 7:

Name: Encephalopathy, Acute, Infection-Induced 7 57
Herpes Simplex Encephalitis, Susceptibility to, 7 29 6
Iiae7 57 74
Encephalopathy, Acute, Infection-Induced , Susceptibility to, 7 57
Encephalopathy, Acute, Infection-Induced, Herpes-Specific, 7 74
Encephalitis, Herpes Simplex, Susceptibility to, Type 7 40
Herpes Simplex Encephalitis, Susceptibility to, 5 57
Encephalopathy, Acute, Infection-Induced, 7 74
Infection-Induced Acute Encephalopathy 7 74
Herpes Simplex Encephalitis 5 57
Herpes Simplex Encephalitis 7 74
Hse7 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable age at onset, range teens to adult
two unrelated patients have been reported (last curated march 2018)


HPO:

32
encephalopathy, acute, infection-induced 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D020803
MedGen 42 C4225294

Summaries for Encephalopathy, Acute, Infection-Induced 7

UniProtKB/Swiss-Prot : 74 Encephalopathy, acute, infection-induced, Herpes-specific, 7: 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.

MalaCards based summary : Encephalopathy, Acute, Infection-Induced 7, is also known as herpes simplex encephalitis, susceptibility to, 7. An important gene associated with Encephalopathy, Acute, Infection-Induced 7 is IRF3 (Interferon Regulatory Factor 3). Related phenotypes are seizures and encephalitis

More information from OMIM: 616532 PS610551

Related Diseases for Encephalopathy, Acute, Infection-Induced 7

Symptoms & Phenotypes for Encephalopathy, Acute, Infection-Induced 7

Human phenotypes related to Encephalopathy, Acute, Infection-Induced 7:

32 (showing 4, show less)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 encephalitis 32 HP:0002383
3 headache 32 HP:0002315
4 nuchal rigidity 32 HP:0031179

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
headache
fluctuating consciousness
nuchal rigidity
acute infectious encephalitis
more
Immunology:
increased susceptibility to herpes encephalitis (hsv-1)

Clinical features from OMIM:

616532

Drugs & Therapeutics for Encephalopathy, Acute, Infection-Induced 7

Search Clinical Trials , NIH Clinical Center for Encephalopathy, Acute, Infection-Induced 7

Genetic Tests for Encephalopathy, Acute, Infection-Induced 7

Genetic tests related to Encephalopathy, Acute, Infection-Induced 7:

# Genetic test Affiliating Genes
1 Herpes Simplex Encephalitis, Susceptibility to, 7 29 IRF3

Anatomical Context for Encephalopathy, Acute, Infection-Induced 7

Publications for Encephalopathy, Acute, Infection-Induced 7

Articles related to Encephalopathy, Acute, Infection-Induced 7:

(showing 6, 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
Functional IRF3 deficiency in a patient with herpes simplex encephalitis. 8 71
26216125 2015
3
Interferon regulatory factor 3-dependent pathways are critical for control of herpes simplex virus type 1 central nervous system infection. 8
20660188 2010
4
Seven days of muscle re-loading and voluntary wheel running following hindlimb suspension in mice restores running performance, muscle morphology and metrics of fatigue but not muscle strength. 38
20632203 2010
5
Overexpressed Drosophila DNA methyltransferase 2 isoform C interacts with Hsp70 in vivo. 38
17669272 2007
6
Chemical and enzymatic treatment of endothelin. 38
8567176 1995

Variations for Encephalopathy, Acute, Infection-Induced 7

ClinVar genetic disease variations for Encephalopathy, Acute, Infection-Induced 7:

6 (showing 2, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 IRF3 NM_001571.6(IRF3): c.829G> A (p.Ala277Thr) single nucleotide variant risk factor rs143769046 19:50165358-50165358 19:49662101-49662101
2 IRF3 NM_001571.6(IRF3): c.854G> A (p.Arg285Gln) single nucleotide variant risk factor rs750526659 19:50165333-50165333 19:49662076-49662076

UniProtKB/Swiss-Prot genetic disease variations for Encephalopathy, Acute, Infection-Induced 7:

74 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 IRF3 p.Arg285Gln VAR_075805 rs750526659

Expression for Encephalopathy, Acute, Infection-Induced 7

Search GEO for disease gene expression data for Encephalopathy, Acute, Infection-Induced 7.

Pathways for Encephalopathy, Acute, Infection-Induced 7

GO Terms for Encephalopathy, Acute, Infection-Induced 7

Sources for Encephalopathy, Acute, Infection-Induced 7

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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