MCID: ENC063
MIFTS: 18

Encephalopathy, Acute, Infection-Induced 7

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 75
Encephalopathy, Acute, Infection-Induced , Susceptibility to, 7 57
Encephalitis, Herpes Simplex, Susceptibility to, Type 7 40
Herpes Simplex Encephalitis, Susceptibility to, 5 57
Encephalopathy, Acute, Infection-Induced, 7 75
Infection-Induced Acute Encephalopathy 7 75
Herpes Simplex Encephalitis 5 57
Herpes Simplex Encephalitis 7 75
Hse7 75

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:



Summaries for Encephalopathy, Acute, Infection-Induced 7

UniProtKB/Swiss-Prot : 75 Herpes simplex encephalitis 7: A rare complication of human herpesvirus 1 (HHV-1) infection, occurring in only a small minority of HHV-1 infected individuals. HSE 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 headache

Description from OMIM: 616532

Related Diseases for Encephalopathy, Acute, Infection-Induced 7

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

Symptoms via clinical synopsis from OMIM:

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


Clinical features from OMIM:

616532

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

32
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 headache 32 HP:0002315
3 nuchal rigidity 32 HP:0031179

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

Variations for Encephalopathy, Acute, Infection-Induced 7

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

75
# 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
# 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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