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 58
Herpes Simplex Encephalitis, Susceptibility to, 7 30 6
Iiae7 58 76
Encephalopathy, Acute, Infection-Induced , Susceptibility to, 7 58
Encephalopathy, Acute, Infection-Induced, Herpes-Specific, 7 76
Encephalitis, Herpes Simplex, Susceptibility to, Type 7 41
Herpes Simplex Encephalitis, Susceptibility to, 5 58
Encephalopathy, Acute, Infection-Induced, 7 76
Infection-Induced Acute Encephalopathy 7 76
Herpes Simplex Encephalitis 5 58
Herpes Simplex Encephalitis 7 76
Hse7 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
encephalopathy, acute, infection-induced 7:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Encephalopathy, Acute, Infection-Induced 7

UniProtKB/Swiss-Prot : 76 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

Description from OMIM: 616532

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:

33 (showing 4, show less)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 encephalitis 33 HP:0002383
3 headache 33 HP:0002315
4 nuchal rigidity 33 HP:0031179

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
headache
fluctuating consciousness
acute infectious encephalitis
nuchal rigidity
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 30 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 2, show less)
# Title Authors Year
1
Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis. ( 26513235 )
2015
2
Functional IRF3 deficiency in a patient with herpes simplex encephalitis. ( 26216125 )
2015

Variations for Encephalopathy, Acute, Infection-Induced 7

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

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

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

6 (showing 4, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 IRF3 NM_001571.5(IRF3): c.854G> A (p.Arg285Gln) single nucleotide variant risk factor rs750526659 GRCh37 Chromosome 19, 50165333: 50165333
2 IRF3 NM_001571.5(IRF3): c.854G> A (p.Arg285Gln) single nucleotide variant risk factor rs750526659 GRCh38 Chromosome 19, 49662076: 49662076
3 IRF3 NM_001571.5(IRF3): c.829G> A (p.Ala277Thr) single nucleotide variant risk factor rs143769046 GRCh38 Chromosome 19, 49662101: 49662101
4 IRF3 NM_001571.5(IRF3): c.829G> A (p.Ala277Thr) single nucleotide variant risk factor rs143769046 GRCh37 Chromosome 19, 50165358: 50165358

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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