IIAE2
MCID: ENC061
MIFTS: 27

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 57
Herpes Simplex Encephalitis 2 57 74 29 6
Herpes Simplex Encephalitis, Susceptibility to, 2 57 13
Iiae2 57 74
Encephalopathy, Acute, Infection-Induced , Susceptibility to, 2 57
Encephalopathy, Acute, Infection-Induced, Herpes-Specific, 2 74
Encephalitis, Herpes Simplex, Susceptibility to, Type 2 40
Encephalopathy, Acute, Infection-Induced, 2 74
Tlr3-Deficient Herpes Simplex Encephalitis 74
Infection-Induced Acute Encephalopathy 2 74
Hse2 74

Characteristics:

OMIM:

57
Miscellaneous:
incomplete penetrance
highly variable phenotype
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

Inheritance:
autosomal recessive
autosomal dominant


HPO:

32
encephalopathy, acute, infection-induced 2:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

MeSH 44 D020803
MedGen 42 C2751803

Summaries for Encephalopathy, Acute, Infection-Induced 2

OMIM : 57 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, also known as herpes simplex encephalitis 2, is related to encephalitis and herpes simplex encephalitis. An important gene associated with Encephalopathy, Acute, Infection-Induced 2 is TLR3 (Toll Like Receptor 3). Affiliated tissues include brain, skin and bone, and related phenotypes are intellectual disability and mental deterioration

UniProtKB/Swiss-Prot : 74 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

Diseases in the Encephalopathy, Acute, Infection-Induced 4 family:

Encephalopathy, Acute, Infection-Induced 1 Encephalopathy, Acute, Infection-Induced 2
Encephalopathy, Acute, Infection-Induced 5 Encephalopathy, Acute, Infection-Induced 6
Encephalopathy, Acute, Infection-Induced 7 Encephalopathy, Acute, Infection-Induced 8
Encephalopathy, Acute, Infection-Induced 9

Diseases related to Encephalopathy, Acute, Infection-Induced 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 encephalitis 10.0
2 herpes simplex encephalitis 10.0

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

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

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 very rare (1%) HP:0001249
2 mental deterioration 32 very rare (1%) HP:0001268
3 hemiparesis 32 very rare (1%) HP:0001269
4 seizures 32 HP:0001250
5 eeg abnormality 32 HP:0002353
6 confusion 32 HP:0001289
7 meningitis 32 HP:0001287
8 lethargy 32 HP:0001254
9 gliosis 32 HP:0002171
10 herpes simplex encephalitis 32 HP:0012302

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
confusion
meningitis
lethargy
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 29 TLR3

Anatomical Context for Encephalopathy, Acute, Infection-Induced 2

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

41
Brain, Skin, Bone, Bone Marrow, Cortex

Publications for Encephalopathy, Acute, Infection-Induced 2

Articles related to Encephalopathy, Acute, Infection-Induced 2:

# 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
TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk. 8 71
25339207 2014
3
Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity. 8 71
21911422 2011
4
TLR3 deficiency in patients with herpes simplex encephalitis. 8 71
17872438 2007
5
TLR3 immunity to infection in mice and humans. 8
23290562 2013
6
Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells. 8
23103873 2012
7
Expression of Toll-like receptor 3 in the human cerebellar cortex in rabies, herpes simplex encephalitis, and other neurological diseases. 38
16877304 2006
8
Reverse crossed cerebellar diaschisis in partial complex seizures related to herpes simplex encephalitis. 38
1395348 1992
9
Neurologic complications of bone marrow transplantation. 38
3883233 1985

Variations for Encephalopathy, Acute, Infection-Induced 2

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TLR3 NM_003265.2(TLR3): c.1079T> C (p.Leu360Pro) single nucleotide variant risk factor rs768091235 4:187003919-187003919 4:186082765-186082765
2 TLR3 NM_003265.2(TLR3): c.2236G> T (p.Glu746Ter) single nucleotide variant risk factor rs1554064929 4:187005076-187005076 4:186083922-186083922
3 TLR3 NM_003265.2(TLR3): c.2600G> A (p.Arg867Gln) single nucleotide variant risk factor rs199768900 4:187005912-187005912 4:186084758-186084758
4 TLR3 NM_003265.2(TLR3): c.2228G> A (p.Gly743Asp) single nucleotide variant Uncertain significance rs1280549921 4:187005068-187005068 4:186083914-186083914
5 TLR3 NM_003265.2(TLR3): c.889C> G (p.Leu297Val) single nucleotide variant Uncertain significance rs35311343 4:187003729-187003729 4:186082575-186082575
6 TLR3 NM_003265.2(TLR3): c.1660C> T (p.Pro554Ser) single nucleotide variant Uncertain significance rs121434431 4:187004500-187004500 4:186083346-186083346
7 TLR3 NM_003265.2(TLR3): c.1234C> T (p.Leu412Phe) single nucleotide variant Benign/Likely benign rs3775291 4:187004074-187004074 4:186082920-186082920
8 TLR3 NM_003265.2(TLR3): c.2432G> T (p.Arg811Ile) single nucleotide variant no interpretation for the single variant rs1244010954 4:187005272-187005272 4:186084118-186084118

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

74
# Symbol AA change Variation ID SNP ID
1 TLR3 p.Pro554Ser VAR_054887 rs121434431

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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73 UMLS via Orphanet
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