IIAE2
MCID: ENC061
MIFTS: 22

Encephalopathy, Acute, Infection-Induced 2 (IIAE2)

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

Aliases & Classifications for Encephalopathy, Acute, Infection-Induced 2

MalaCards integrated aliases for Encephalopathy, Acute, Infection-Induced 2:

Name: Encephalopathy, Acute, Infection-Induced 2 58
Herpes Simplex Encephalitis 2 58 76 30 6
Herpes Simplex Encephalitis, Susceptibility to, 2 58 13
Iiae2 58 76
Encephalopathy, Acute, Infection-Induced , Susceptibility to, 2 58
Encephalopathy, Acute, Infection-Induced, Herpes-Specific, 2 76
Encephalitis, Herpes Simplex, Susceptibility to, Type 2 41
Encephalopathy, Acute, Infection-Induced, 2 76
Tlr3-Deficient Herpes Simplex Encephalitis 76
Infection-Induced Acute Encephalopathy 2 76
Hse2 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
highly variable phenotype
incomplete penetrance
later onset has been reported
onset usually in first decade
some patients have recurrent episodes
patients have localized brain involvement without systemic involvement
favorable response to acyclovir


HPO:

33
encephalopathy, acute, infection-induced 2:
Onset and clinical course incomplete penetrance
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Encephalopathy, Acute, Infection-Induced 2

OMIM : 58 Herpes simplex encephalitis (HSE) is a severe viral infection of the central nervous system (CNS) resulting most commonly from infection with HSV-1 and occasionally by HSV-2. The disease peaks in childhood between 3 months and 3 years of age, although later onset can also occur, and affected individuals usually have neurologic sequelae, including seizures and cognitive or motor impairment. Some individuals may have recurrences of an acute episode of HSE; however, patients have no clear susceptibility to infection to other viruses. The virus gains entry to the CNS through a neuronal route via the trigeminal or olfactory nerves, not via the blood. Replication of this enveloped double-stranded DNA (dsDNA) virus involves the production and accumulation of RNA species, including dsRNA, which are recognized by the intracellular TLR3 signaling pathway. The susceptibility to HSV in particular appears to result from impaired TLR3-dependent interferon production by nonhematopoietic cells that reside within the CNS (review by Zhang et al., 2013; summary by Mork et al., 2015). For a general phenotypic description of herpes simplex encephalitis and a discussion of genetic heterogeneity of acute infection-induced encephalopathy, see 610551. (613002)

MalaCards based summary : Encephalopathy, Acute, Infection-Induced 2, is also known as herpes simplex encephalitis 2. An important gene associated with Encephalopathy, Acute, Infection-Induced 2 is TLR3 (Toll Like Receptor 3). Affiliated tissues include brain and skin, and related phenotypes are intellectual disability and mental deterioration

UniProtKB/Swiss-Prot : 76 Encephalopathy, acute, infection-induced, Herpes-specific, 2: 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.

Related Diseases for Encephalopathy, Acute, Infection-Induced 2

Symptoms & Phenotypes for Encephalopathy, Acute, Infection-Induced 2

Human phenotypes related to Encephalopathy, Acute, Infection-Induced 2:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 very rare (1%) HP:0001249
2 mental deterioration 33 very rare (1%) HP:0001268
3 hemiparesis 33 very rare (1%) HP:0001269
4 seizures 33 HP:0001250
5 eeg abnormality 33 HP:0002353
6 meningitis 33 HP:0001287
7 lethargy 33 HP:0001254
8 confusion 33 HP:0001289
9 gliosis 33 HP:0002171
10 herpes simplex encephalitis 33 HP:0012302

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
meningitis
lethargy
confusion
mental retardation (in some patients)
more
Skin Nails Hair Skin:
absence of skin lesions (in most patients)

Head And Neck Mouth:
herpes labialis (in some patients)

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 possibly hsv-2, infection, but not to other viruses, bacteria, or fungal agents

Clinical features from OMIM:

613002

Drugs & Therapeutics for Encephalopathy, Acute, Infection-Induced 2

Search Clinical Trials , NIH Clinical Center for Encephalopathy, Acute, Infection-Induced 2

Genetic Tests for Encephalopathy, Acute, Infection-Induced 2

Genetic tests related to Encephalopathy, Acute, Infection-Induced 2:

# Genetic test Affiliating Genes
1 Herpes Simplex Encephalitis 2 30 TLR3

Anatomical Context for Encephalopathy, Acute, Infection-Induced 2

MalaCards organs/tissues related to Encephalopathy, Acute, Infection-Induced 2:

42
Brain, Skin

Publications for Encephalopathy, Acute, Infection-Induced 2

Variations for Encephalopathy, Acute, Infection-Induced 2

UniProtKB/Swiss-Prot genetic disease variations for Encephalopathy, Acute, Infection-Induced 2:

76
# Symbol AA change Variation ID SNP ID
1 TLR3 p.Pro554Ser VAR_054887 rs121434431

ClinVar genetic disease variations for Encephalopathy, Acute, Infection-Induced 2:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 TLR3 NM_003265.2(TLR3): c.1660C> T (p.Pro554Ser) single nucleotide variant Uncertain significance rs121434431 GRCh37 Chromosome 4, 187004500: 187004500
2 TLR3 NM_003265.2(TLR3): c.1660C> T (p.Pro554Ser) single nucleotide variant Uncertain significance rs121434431 GRCh38 Chromosome 4, 186083346: 186083346
3 TLR3 NM_003265.2(TLR3): c.1234C> T (p.Leu412Phe) single nucleotide variant protective rs3775291 GRCh37 Chromosome 4, 187004074: 187004074
4 TLR3 NM_003265.2(TLR3): c.1234C> T (p.Leu412Phe) single nucleotide variant protective rs3775291 GRCh38 Chromosome 4, 186082920: 186082920
5 TLR3 NM_003265.2(TLR3): c.2236G> T (p.Glu746Ter) single nucleotide variant risk factor rs1554064929 GRCh37 Chromosome 4, 187005076: 187005076
6 TLR3 NM_003265.2(TLR3): c.2236G> T (p.Glu746Ter) single nucleotide variant risk factor rs1554064929 GRCh38 Chromosome 4, 186083922: 186083922
7 TLR3 NM_003265.2(TLR3): c.2600G> A (p.Arg867Gln) single nucleotide variant risk factor rs199768900 GRCh37 Chromosome 4, 187005912: 187005912
8 TLR3 NM_003265.2(TLR3): c.2600G> A (p.Arg867Gln) single nucleotide variant risk factor rs199768900 GRCh38 Chromosome 4, 186084758: 186084758
9 TLR3 NM_003265.2(TLR3): c.2432G> T (p.Arg811Ile) single nucleotide variant no interpretation for the single variant rs1244010954 GRCh37 Chromosome 4, 187005272: 187005272
10 TLR3 NM_003265.2(TLR3): c.2432G> T (p.Arg811Ile) single nucleotide variant no interpretation for the single variant rs1244010954 GRCh38 Chromosome 4, 186084118: 186084118
11 TLR3 NM_003265.2(TLR3): c.2228G> A (p.Gly743Asp) single nucleotide variant Uncertain significance rs1280549921 GRCh37 Chromosome 4, 187005068: 187005068
12 TLR3 NM_003265.2(TLR3): c.2228G> A (p.Gly743Asp) single nucleotide variant Uncertain significance rs1280549921 GRCh38 Chromosome 4, 186083914: 186083914
13 TLR3 NM_003265.2(TLR3): c.1079T> C (p.Leu360Pro) single nucleotide variant risk factor rs768091235 GRCh37 Chromosome 4, 187003919: 187003919
14 TLR3 NM_003265.2(TLR3): c.1079T> C (p.Leu360Pro) single nucleotide variant risk factor rs768091235 GRCh38 Chromosome 4, 186082765: 186082765
15 TLR3 NM_003265.2(TLR3): c.889C> G (p.Leu297Val) single nucleotide variant Uncertain significance rs35311343 GRCh38 Chromosome 4, 186082575: 186082575
16 TLR3 NM_003265.2(TLR3): c.889C> G (p.Leu297Val) single nucleotide variant Uncertain significance rs35311343 GRCh37 Chromosome 4, 187003729: 187003729

Expression for Encephalopathy, Acute, Infection-Induced 2

Search GEO for disease gene expression data for Encephalopathy, Acute, Infection-Induced 2.

Pathways for Encephalopathy, Acute, Infection-Induced 2

GO Terms for Encephalopathy, Acute, Infection-Induced 2

Sources for Encephalopathy, Acute, Infection-Induced 2

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