MCID: ENC062
MIFTS: 13

Encephalopathy, Acute, Infection-Induced 5

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

Aliases & Classifications for Encephalopathy, Acute, Infection-Induced 5

MalaCards integrated aliases for Encephalopathy, Acute, Infection-Induced 5:

Name: Encephalopathy, Acute, Infection-Induced 5 57
Herpes Simplex Encephalitis, Susceptibility to, 3 57 29 13 6
Herpes Simplex Encephalitis 3 57 75
Iiae5 57 75
Encephalopathy, Acute, Infection-Induced , Susceptibility to, 5 57
Herpes Simplex Encephalitis, Susceptibility to, Type 3 40
Encephalopathy, Acute, Infection-Induced, 5 75
Infection-Induced Acute Encephalopathy 5 75
Hse3 75

Classifications:



External Ids:

OMIM 57 614849
MeSH 44 D020803

Summaries for Encephalopathy, Acute, Infection-Induced 5

UniProtKB/Swiss-Prot : 75 Herpes simplex encephalitis 3: 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 5, is also known as herpes simplex encephalitis, susceptibility to, 3. An important gene associated with Encephalopathy, Acute, Infection-Induced 5 is TRAF3 (TNF Receptor Associated Factor 3).

Description from OMIM: 614849

Related Diseases for Encephalopathy, Acute, Infection-Induced 5

Symptoms & Phenotypes for Encephalopathy, Acute, Infection-Induced 5

Clinical features from OMIM:

614849

Drugs & Therapeutics for Encephalopathy, Acute, Infection-Induced 5

Search Clinical Trials , NIH Clinical Center for Encephalopathy, Acute, Infection-Induced 5

Genetic Tests for Encephalopathy, Acute, Infection-Induced 5

Genetic tests related to Encephalopathy, Acute, Infection-Induced 5:

# Genetic test Affiliating Genes
1 Herpes Simplex Encephalitis, Susceptibility to, 3 29 TRAF3

Anatomical Context for Encephalopathy, Acute, Infection-Induced 5

Publications for Encephalopathy, Acute, Infection-Induced 5

Variations for Encephalopathy, Acute, Infection-Induced 5

UniProtKB/Swiss-Prot genetic disease variations for Encephalopathy, Acute, Infection-Induced 5:

75
# Symbol AA change Variation ID SNP ID
1 TRAF3 p.Arg118Trp VAR_069081 rs143813189

ClinVar genetic disease variations for Encephalopathy, Acute, Infection-Induced 5:

6
(show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRAF3 NM_145725.2(TRAF3): c.449G> A (p.Arg150His) single nucleotide variant Conflicting interpretations of pathogenicity rs141920055 GRCh38 Chromosome 14, 102876404: 102876404
2 TRAF3 NM_145725.2(TRAF3): c.449G> A (p.Arg150His) single nucleotide variant Conflicting interpretations of pathogenicity rs141920055 GRCh37 Chromosome 14, 103342741: 103342741
3 TRAF3 NM_003300.3(TRAF3): c.1110C> T (p.Ser370=) single nucleotide variant Benign rs1051743 GRCh37 Chromosome 14, 103369741: 103369741
4 TRAF3 NM_003300.3(TRAF3): c.1110C> T (p.Ser370=) single nucleotide variant Benign rs1051743 GRCh38 Chromosome 14, 102903404: 102903404
5 TRAF3 NM_003300.3(TRAF3): c.1254C> T (p.Leu418=) single nucleotide variant Likely benign rs201486992 GRCh37 Chromosome 14, 103371668: 103371668
6 TRAF3 NM_003300.3(TRAF3): c.1254C> T (p.Leu418=) single nucleotide variant Likely benign rs201486992 GRCh38 Chromosome 14, 102905331: 102905331
7 TRAF3 NM_003300.3(TRAF3): c.189G> A (p.Pro63=) single nucleotide variant Benign rs142350527 GRCh38 Chromosome 14, 102870390: 102870390
8 TRAF3 NM_003300.3(TRAF3): c.189G> A (p.Pro63=) single nucleotide variant Benign rs142350527 GRCh37 Chromosome 14, 103336727: 103336727
9 TRAF3 NM_003300.3(TRAF3): c.245+10_245+21delCTCGCCCGGCCC deletion Benign GRCh37 Chromosome 14, 103336793: 103336804
10 TRAF3 NM_003300.3(TRAF3): c.245+10_245+21delCTCGCCCGGCCC deletion Benign GRCh38 Chromosome 14, 102870456: 102870467
11 TRAF3 NM_003300.3(TRAF3): c.727-5C> T single nucleotide variant Benign rs767004037 GRCh37 Chromosome 14, 103357657: 103357657
12 TRAF3 NM_003300.3(TRAF3): c.727-5C> T single nucleotide variant Benign rs767004037 GRCh38 Chromosome 14, 102891320: 102891320
13 TRAF3 NC_000014.9: g.(?_102870182)_(102930700_?)dup duplication Uncertain significance GRCh37 Chromosome 14, 103336519: 103397037
14 TRAF3 NC_000014.9: g.(?_102870182)_(102930700_?)dup duplication Uncertain significance GRCh38 Chromosome 14, 102870182: 102930700
15 TRAF3 NM_003300.3(TRAF3): c.727-7C> T single nucleotide variant Likely benign rs376963322 GRCh38 Chromosome 14, 102891318: 102891318
16 TRAF3 NM_003300.3(TRAF3): c.727-7C> T single nucleotide variant Likely benign rs376963322 GRCh37 Chromosome 14, 103357655: 103357655
17 TRAF3 NM_003300.3(TRAF3): c.856_857delAA (p.Lys286Glufs) deletion Uncertain significance GRCh37 Chromosome 14, 103363634: 103363635
18 TRAF3 NM_003300.3(TRAF3): c.856_857delAA (p.Lys286Glufs) deletion Uncertain significance GRCh38 Chromosome 14, 102897297: 102897298
19 TRAF3 NM_003300.3(TRAF3): c.165G> A (p.Lys55=) single nucleotide variant Likely benign GRCh38 Chromosome 14, 102870366: 102870366
20 TRAF3 NM_003300.3(TRAF3): c.165G> A (p.Lys55=) single nucleotide variant Likely benign GRCh37 Chromosome 14, 103336703: 103336703
21 TRAF3 NM_003300.3(TRAF3): c.1323C> T (p.Tyr441=) single nucleotide variant Likely benign GRCh37 Chromosome 14, 103371737: 103371737
22 TRAF3 NM_003300.3(TRAF3): c.1323C> T (p.Tyr441=) single nucleotide variant Likely benign GRCh38 Chromosome 14, 102905400: 102905400
23 TRAF3 NM_003300.3(TRAF3): c.1509C> T (p.Ser503=) single nucleotide variant Benign rs138943371 GRCh38 Chromosome 14, 102905586: 102905586
24 TRAF3 NM_003300.3(TRAF3): c.1509C> T (p.Ser503=) single nucleotide variant Benign rs138943371 GRCh37 Chromosome 14, 103371923: 103371923

Expression for Encephalopathy, Acute, Infection-Induced 5

Search GEO for disease gene expression data for Encephalopathy, Acute, Infection-Induced 5.

Pathways for Encephalopathy, Acute, Infection-Induced 5

GO Terms for Encephalopathy, Acute, Infection-Induced 5

Sources for Encephalopathy, Acute, Infection-Induced 5

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