MCID: ENC064
MIFTS: 15

Encephalopathy, Acute, Infection-Induced 8

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 57
Encephalopathy, Acute, Infection-Induced , Susceptibility to, 8 57 6
Herpes Simplex Encephalitis, Susceptibility to, 6 57
Herpes Simplex Encephalitis 6 57
Iiae8 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


Classifications:



External Ids:

OMIM 57 617900

Summaries for Encephalopathy, Acute, Infection-Induced 8

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.

Description from OMIM: 617900

Related Diseases for Encephalopathy, Acute, Infection-Induced 8

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

Symptoms via clinical synopsis from OMIM:

57
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

Neurologic Central Nervous System:
herpes simplex encephalitis, acute infection
meningitis
seizures
lethargy
confusion
more

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:

41
Brain, Skin

Publications for Encephalopathy, Acute, Infection-Induced 8

Variations for Encephalopathy, Acute, Infection-Induced 8

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 GRCh38 Chromosome 12, 64467018: 64467018
2 TBK1 NM_013254.3(TBK1): c.476G> C (p.Gly159Ala) single nucleotide variant risk factor 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 GRCh38 Chromosome 12, 64474308: 64474308
6 TBK1 NM_013254.3(TBK1): c.619A> G (p.Ile207Val) single nucleotide variant risk factor 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 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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