IIAE8
MCID: ENC064
MIFTS: 20

Encephalopathy, Acute, Infection-Induced 8 (IIAE8)

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

Aliases & Classifications for Encephalopathy, Acute, Infection-Induced 8

MalaCards integrated aliases for Encephalopathy, Acute, Infection-Induced 8:

Name: Encephalopathy, Acute, Infection-Induced 8 58
Encephalopathy, Acute, Infection-Induced , Susceptibility to, 8 58 6
Herpes Simplex Encephalitis 6 58 76
Iiae8 58 76
Encephalopathy, Acute, Infection-Induced, Herpes-Specific, 8 76
Herpes Simplex Encephalitis, Susceptibility to, 6 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
incomplete penetrance
variable age at onset (range childhood to adult)
patients have localized brain involvement without systemic involvement
favorable response to acyclovir


HPO:

33
encephalopathy, acute, infection-induced 8:
Onset and clinical course incomplete penetrance


Classifications:



Summaries for Encephalopathy, Acute, Infection-Induced 8

UniProtKB/Swiss-Prot : 76 Encephalopathy, acute, infection-induced, herpes-specific, 8: A rare, often fatal complication of herpes simplex infection, caused by virus spreading in the central nervous system. Disease manifestations include low-grade fever, severe headache, nausea, vomiting, and lethargy. Neurological features include confusion, acute memory disturbances, disorientation, behavioral changes, hemiparesis and seizures.

MalaCards based summary : Encephalopathy, Acute, Infection-Induced 8, is also known as encephalopathy, acute, infection-induced , susceptibility to, 8. An important gene associated with Encephalopathy, Acute, Infection-Induced 8 is TBK1 (TANK Binding Kinase 1). Affiliated tissues include brain and skin, and related phenotypes are seizures and eeg abnormality

Description from OMIM: 617900

Related Diseases for Encephalopathy, Acute, Infection-Induced 8

Symptoms & Phenotypes for Encephalopathy, Acute, Infection-Induced 8

Human phenotypes related to Encephalopathy, Acute, Infection-Induced 8:

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

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
meningitis
lethargy
confusion
hemiparesis
more
Skin Nails Hair Skin:
absence of skin lesions

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

Clinical features from OMIM:

617900

Drugs & Therapeutics for Encephalopathy, Acute, Infection-Induced 8

Search Clinical Trials , NIH Clinical Center for Encephalopathy, Acute, Infection-Induced 8

Genetic Tests for Encephalopathy, Acute, Infection-Induced 8

Anatomical Context for Encephalopathy, Acute, Infection-Induced 8

MalaCards organs/tissues related to Encephalopathy, Acute, Infection-Induced 8:

42
Brain, Skin

Publications for Encephalopathy, Acute, Infection-Induced 8

Variations for Encephalopathy, Acute, Infection-Induced 8

UniProtKB/Swiss-Prot genetic disease variations for Encephalopathy, Acute, Infection-Induced 8:

76
# Symbol AA change Variation ID SNP ID
1 TBK1 p.Asp50Ala VAR_080517 rs101093001
2 TBK1 p.Gly159Ala VAR_080518

ClinVar genetic disease variations for Encephalopathy, Acute, Infection-Induced 8:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TBK1 NM_013254.3(TBK1): c.476G> C (p.Gly159Ala) single nucleotide variant risk factor rs1555202947 GRCh38 Chromosome 12, 64467018: 64467018
2 TBK1 NM_013254.3(TBK1): c.476G> C (p.Gly159Ala) single nucleotide variant risk factor rs1555202947 GRCh37 Chromosome 12, 64860798: 64860798
3 TBK1 NM_013254.3(TBK1): c.149A> C (p.Asp50Ala) single nucleotide variant risk factor rs1010930015 GRCh38 Chromosome 12, 64460250: 64460250
4 TBK1 NM_013254.3(TBK1): c.149A> C (p.Asp50Ala) single nucleotide variant risk factor rs1010930015 GRCh37 Chromosome 12, 64854030: 64854030
5 TBK1 NM_013254.3(TBK1): c.619A> G (p.Ile207Val) single nucleotide variant risk factor rs1555203557 GRCh38 Chromosome 12, 64474308: 64474308
6 TBK1 NM_013254.3(TBK1): c.619A> G (p.Ile207Val) single nucleotide variant risk factor rs1555203557 GRCh37 Chromosome 12, 64868088: 64868088

Expression for Encephalopathy, Acute, Infection-Induced 8

Search GEO for disease gene expression data for Encephalopathy, Acute, Infection-Induced 8.

Pathways for Encephalopathy, Acute, Infection-Induced 8

GO Terms for Encephalopathy, Acute, Infection-Induced 8

Sources for Encephalopathy, Acute, Infection-Induced 8

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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