IIAE5
MCID: ENC062
MIFTS: 15

Encephalopathy, Acute, Infection-Induced 5 (IIAE5)

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 58
Herpes Simplex Encephalitis, Susceptibility to, 3 58 30 13 6
Herpes Simplex Encephalitis 3 58 76
Iiae5 58 76
Encephalopathy, Acute, Infection-Induced , Susceptibility to, 5 58
Encephalopathy, Acute, Infection-Induced, Herpes-Specific, 5 76
Herpes Simplex Encephalitis, Susceptibility to, Type 3 41
Encephalopathy, Acute, Infection-Induced, 5 76
Infection-Induced Acute Encephalopathy 5 76
Hse3 76

Classifications:



External Ids:

OMIM 58 614849
MeSH 45 D020803
MedGen 43 C3553868

Summaries for Encephalopathy, Acute, Infection-Induced 5

UniProtKB/Swiss-Prot : 76 Encephalopathy, acute, infection-induced, Herpes-specific, 5: 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.

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 30 TRAF3

Anatomical Context for Encephalopathy, Acute, Infection-Induced 5

Publications for Encephalopathy, Acute, Infection-Induced 5

Articles related to Encephalopathy, Acute, Infection-Induced 5:

(showing 1, show less)
# Title Authors Year
1
Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis. ( 20832341 )
2010

Variations for Encephalopathy, Acute, Infection-Induced 5

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

76 (showing 1, show less)
# 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 (showing 38, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRAF3 NM_003300.3(TRAF3): c.352C> T (p.Arg118Trp) single nucleotide variant Likely benign rs143813189 GRCh37 Chromosome 14, 103342015: 103342015
2 TRAF3 NM_003300.3(TRAF3): c.352C> T (p.Arg118Trp) single nucleotide variant Likely benign rs143813189 GRCh38 Chromosome 14, 102875678: 102875678
3 TRAF3 NM_145725.2(TRAF3): c.449G> A (p.Arg150His) single nucleotide variant Conflicting interpretations of pathogenicity rs141920055 GRCh38 Chromosome 14, 102876404: 102876404
4 TRAF3 NM_145725.2(TRAF3): c.449G> A (p.Arg150His) single nucleotide variant Conflicting interpretations of pathogenicity rs141920055 GRCh37 Chromosome 14, 103342741: 103342741
5 TRAF3 NM_003300.3(TRAF3): c.1110C> T (p.Ser370=) single nucleotide variant Benign rs1051743 GRCh37 Chromosome 14, 103369741: 103369741
6 TRAF3 NM_003300.3(TRAF3): c.1110C> T (p.Ser370=) single nucleotide variant Benign rs1051743 GRCh38 Chromosome 14, 102903404: 102903404
7 TRAF3 NM_003300.3(TRAF3): c.1254C> T (p.Leu418=) single nucleotide variant Likely benign rs201486992 GRCh37 Chromosome 14, 103371668: 103371668
8 TRAF3 NM_003300.3(TRAF3): c.1254C> T (p.Leu418=) single nucleotide variant Likely benign rs201486992 GRCh38 Chromosome 14, 102905331: 102905331
9 TRAF3 NM_003300.3(TRAF3): c.189G> A (p.Pro63=) single nucleotide variant Benign rs142350527 GRCh37 Chromosome 14, 103336727: 103336727
10 TRAF3 NM_003300.3(TRAF3): c.189G> A (p.Pro63=) single nucleotide variant Benign rs142350527 GRCh38 Chromosome 14, 102870390: 102870390
11 TRAF3 NM_003300.3(TRAF3): c.245+10_245+21delCTCGCCCGGCCC deletion Benign rs567455701 GRCh37 Chromosome 14, 103336793: 103336804
12 TRAF3 NM_003300.3(TRAF3): c.245+10_245+21delCTCGCCCGGCCC deletion Benign rs567455701 GRCh38 Chromosome 14, 102870456: 102870467
13 TRAF3 NM_003300.3(TRAF3): c.727-5C> T single nucleotide variant Benign rs767004037 GRCh37 Chromosome 14, 103357657: 103357657
14 TRAF3 NM_003300.3(TRAF3): c.727-5C> T single nucleotide variant Benign rs767004037 GRCh38 Chromosome 14, 102891320: 102891320
15 TRAF3 NC_000014.9: g.(?_102870182)_(102930700_?)dup duplication Uncertain significance GRCh37 Chromosome 14, 103336519: 103397037
16 TRAF3 NC_000014.9: g.(?_102870182)_(102930700_?)dup duplication Uncertain significance GRCh38 Chromosome 14, 102870182: 102930700
17 TRAF3 NM_003300.3(TRAF3): c.727-7C> T single nucleotide variant Likely benign rs376963322 GRCh37 Chromosome 14, 103357655: 103357655
18 TRAF3 NM_003300.3(TRAF3): c.727-7C> T single nucleotide variant Likely benign rs376963322 GRCh38 Chromosome 14, 102891318: 102891318
19 TRAF3 NM_003300.3(TRAF3): c.856_857delAA (p.Lys286Glufs) deletion Uncertain significance rs1555376796 GRCh37 Chromosome 14, 103363634: 103363635
20 TRAF3 NM_003300.3(TRAF3): c.856_857delAA (p.Lys286Glufs) deletion Uncertain significance rs1555376796 GRCh38 Chromosome 14, 102897297: 102897298
21 TRAF3 NM_003300.3(TRAF3): c.165G> A (p.Lys55=) single nucleotide variant Likely benign rs1555373885 GRCh37 Chromosome 14, 103336703: 103336703
22 TRAF3 NM_003300.3(TRAF3): c.165G> A (p.Lys55=) single nucleotide variant Likely benign rs1555373885 GRCh38 Chromosome 14, 102870366: 102870366
23 TRAF3 NM_003300.3(TRAF3): c.1323C> T (p.Tyr441=) single nucleotide variant Likely benign rs1159024547 GRCh37 Chromosome 14, 103371737: 103371737
24 TRAF3 NM_003300.3(TRAF3): c.1323C> T (p.Tyr441=) single nucleotide variant Likely benign rs1159024547 GRCh38 Chromosome 14, 102905400: 102905400
25 TRAF3 NM_003300.3(TRAF3): c.1509C> T (p.Ser503=) single nucleotide variant Benign rs138943371 GRCh38 Chromosome 14, 102905586: 102905586
26 TRAF3 NM_003300.3(TRAF3): c.1509C> T (p.Ser503=) single nucleotide variant Benign rs138943371 GRCh37 Chromosome 14, 103371923: 103371923
27 TRAF3 NM_003300.3(TRAF3): c.487C> T (p.Arg163Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 102876442: 102876442
28 TRAF3 NM_003300.3(TRAF3): c.487C> T (p.Arg163Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 103342779: 103342779
29 TRAF3 NM_003300.3(TRAF3): c.962G> A (p.Arg321Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 103369593: 103369593
30 TRAF3 NM_003300.3(TRAF3): c.962G> A (p.Arg321Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 102903256: 102903256
31 TRAF3 NM_003300.3(TRAF3): c.199G> A (p.Glu67Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 102870400: 102870400
32 TRAF3 NM_003300.3(TRAF3): c.199G> A (p.Glu67Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 103336737: 103336737
33 TRAF3 NM_003300.3(TRAF3): c.676G> T (p.Val226Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 102889584: 102889584
34 TRAF3 NM_003300.3(TRAF3): c.676G> T (p.Val226Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 103355921: 103355921
35 TRAF3 NM_003300.3(TRAF3): c.1200C> A (p.Ala400=) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 102905277: 102905277
36 TRAF3 NM_003300.3(TRAF3): c.1200C> A (p.Ala400=) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 103371614: 103371614
37 TRAF3 NM_003300.3(TRAF3): c.488G> A (p.Arg163Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 102876443: 102876443
38 TRAF3 NM_003300.3(TRAF3): c.488G> A (p.Arg163Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 103342780: 103342780

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

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