IIAE5
MCID: ENC062
MIFTS: 19

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 57
Herpes Simplex Encephalitis, Susceptibility to, 3 57 29 13 6
Herpes Simplex Encephalitis 3 57 72
Iiae5 57 72
Encephalopathy, Acute, Infection-Induced , Susceptibility to, 5 57
Encephalopathy, Acute, Infection-Induced, Herpes-Specific, 5 72
Herpes Simplex Encephalitis, Susceptibility to, Type 3 39
Encephalopathy, Acute, Infection-Induced, 5 72
Infection-Induced Acute Encephalopathy 5 72
Hse3 72

Classifications:



External Ids:

OMIM® 57 614849
OMIM Phenotypic Series 57 PS610551
MeSH 44 D020803
MedGen 41 C3553868

Summaries for Encephalopathy, Acute, Infection-Induced 5

UniProtKB/Swiss-Prot : 72 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).

More information from OMIM: 614849 PS610551

Related Diseases for Encephalopathy, Acute, Infection-Induced 5

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

Clinical features from OMIM®:

614849 (Updated 20-May-2021)

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

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

# Title Authors PMID Year
1
Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis. 57
20832341 2010
2
Choreoathetosis as an initial sign of relapsing of herpes simplex encephalitis. 61
7702698 1994

Variations for Encephalopathy, Acute, Infection-Induced 5

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

6 (show top 50) (show all 69)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRAF3 NM_145725.3(TRAF3):c.718G>A (p.Val240Ile) SNV Uncertain significance 834573 GRCh37: 14:103355963-103355963
GRCh38: 14:102889626-102889626
2 TRAF3 NM_145725.3(TRAF3):c.42G>C (p.Gln14His) SNV Uncertain significance 837604 GRCh37: 14:103336580-103336580
GRCh38: 14:102870243-102870243
3 TRAF3 NM_145725.3(TRAF3):c.1099G>A (p.Val367Met) SNV Uncertain significance 843487 GRCh37: 14:103369730-103369730
GRCh38: 14:102903393-102903393
4 TRAF3 NM_145725.3(TRAF3):c.513del (p.Lys171fs) Deletion Uncertain significance 847131 GRCh37: 14:103342803-103342803
GRCh38: 14:102876466-102876466
5 TRAF3 NM_145725.3(TRAF3):c.245+6C>T SNV Uncertain significance 850227 GRCh37: 14:103336789-103336789
GRCh38: 14:102870452-102870452
6 TRAF3 NM_145725.3(TRAF3):c.1015C>G (p.Pro339Ala) SNV Uncertain significance 852725 GRCh37: 14:103369646-103369646
GRCh38: 14:102903309-102903309
7 TRAF3 NM_145725.3(TRAF3):c.34G>A (p.Ala12Thr) SNV Uncertain significance 852804 GRCh37: 14:103336572-103336572
GRCh38: 14:102870235-102870235
8 TRAF3 NM_145725.3(TRAF3):c.428T>G (p.Phe143Cys) SNV Uncertain significance 853351 GRCh37: 14:103342720-103342720
GRCh38: 14:102876383-102876383
9 TRAF3 NM_145725.3(TRAF3):c.74G>A (p.Arg25His) SNV Uncertain significance 853591 GRCh37: 14:103336612-103336612
GRCh38: 14:102870275-102870275
10 TRAF3 NM_145725.3(TRAF3):c.1376A>G (p.Tyr459Cys) SNV Uncertain significance 860432 GRCh37: 14:103371790-103371790
GRCh38: 14:102905453-102905453
11 TRAF3 NM_145725.3(TRAF3):c.596G>T (p.Cys199Phe) SNV Uncertain significance 862976 GRCh37: 14:103352551-103352551
GRCh38: 14:102886214-102886214
12 TRAF3 NM_145725.3(TRAF3):c.74G>T (p.Arg25Leu) SNV Uncertain significance 863160 GRCh37: 14:103336612-103336612
GRCh38: 14:102870275-102870275
13 TRAF3 NM_145725.3(TRAF3):c.562G>A (p.Ala188Thr) SNV Uncertain significance 864588 GRCh37: 14:103342854-103342854
GRCh38: 14:102876517-102876517
14 TRAF3 NM_145725.3(TRAF3):c.269C>T (p.Ala90Val) SNV Uncertain significance 933725 GRCh37: 14:103338277-103338277
GRCh38: 14:102871940-102871940
15 TRAF3 NM_145725.3(TRAF3):c.730A>T (p.Thr244Ser) SNV Uncertain significance 934763 GRCh37: 14:103357665-103357665
GRCh38: 14:102891328-102891328
16 TRAF3 NM_145725.3(TRAF3):c.1112C>T (p.Ala371Val) SNV Uncertain significance 937027 GRCh37: 14:103369743-103369743
GRCh38: 14:102903406-102903406
17 TRAF3 NM_145725.3(TRAF3):c.188C>T (p.Pro63Leu) SNV Uncertain significance 939401 GRCh37: 14:103336726-103336726
GRCh38: 14:102870389-102870389
18 TRAF3 NM_145725.3(TRAF3):c.568C>A (p.Gln190Lys) SNV Uncertain significance 940036 GRCh37: 14:103342860-103342860
GRCh38: 14:102876523-102876523
19 TRAF3 NM_145725.3(TRAF3):c.1616C>G (p.Ala539Gly) SNV Uncertain significance 941743 GRCh37: 14:103372030-103372030
GRCh38: 14:102905693-102905693
20 TRAF3 NM_145725.3(TRAF3):c.989T>C (p.Leu330Pro) SNV Uncertain significance 947783 GRCh37: 14:103369620-103369620
GRCh38: 14:102903283-102903283
21 TRAF3 NM_145725.3(TRAF3):c.1466delinsTTCCTTG (p.Pro489delinsLeuProTrp) Indel Uncertain significance 972273 GRCh37: 14:103371880-103371880
GRCh38: 14:102905543-102905543
22 TRAF3 NM_145725.3(TRAF3):c.1012C>T (p.Arg338Trp) SNV Uncertain significance 1003569 GRCh37: 14:103369643-103369643
GRCh38: 14:102903306-102903306
23 TRAF3 NM_145725.3(TRAF3):c.35C>T (p.Ala12Val) SNV Uncertain significance 1007820 GRCh37: 14:103336573-103336573
GRCh38: 14:102870236-102870236
24 TRAF3 NM_145725.3(TRAF3):c.1395G>A (p.Met465Ile) SNV Uncertain significance 1007850 GRCh37: 14:103371809-103371809
GRCh38: 14:102905472-102905472
25 TRAF3 NM_145725.3(TRAF3):c.1105A>G (p.Lys369Glu) SNV Uncertain significance 1008380 GRCh37: 14:103369736-103369736
GRCh38: 14:102903399-102903399
26 TRAF3 NM_145725.3(TRAF3):c.563C>A (p.Ala188Glu) SNV Uncertain significance 1018009 GRCh37: 14:103342855-103342855
GRCh38: 14:102876518-102876518
27 TRAF3 NM_145725.3(TRAF3):c.1591G>A (p.Ala531Thr) SNV Uncertain significance 1024693 GRCh37: 14:103372005-103372005
GRCh38: 14:102905668-102905668
28 TRAF3 NM_145725.3(TRAF3):c.577G>A (p.Glu193Lys) SNV Uncertain significance 1036198 GRCh37: 14:103352532-103352532
GRCh38: 14:102886195-102886195
29 TRAF3 NM_145725.3(TRAF3):c.563C>T (p.Ala188Val) SNV Uncertain significance 1037232 GRCh37: 14:103342855-103342855
GRCh38: 14:102876518-102876518
30 TRAF3 NM_145725.3(TRAF3):c.73C>T (p.Arg25Cys) SNV Uncertain significance 1045822 GRCh37: 14:103336611-103336611
GRCh38: 14:102870274-102870274
31 TRAF3 NM_145725.3(TRAF3):c.969dup (p.Asp324fs) Duplication Uncertain significance 1047312 GRCh37: 14:103369599-103369600
GRCh38: 14:102903262-102903263
32 TRAF3 NM_145725.3(TRAF3):c.16A>G (p.Lys6Glu) SNV Uncertain significance 1055198 GRCh37: 14:103336554-103336554
GRCh38: 14:102870217-102870217
33 TRAF3 NM_145725.3(TRAF3):c.139G>A (p.Val47Met) SNV Uncertain significance 1060945 GRCh37: 14:103336677-103336677
GRCh38: 14:102870340-102870340
34 TRAF3 NM_145725.3(TRAF3):c.570G>C (p.Gln190His) SNV Uncertain significance 1061280 GRCh37: 14:103342862-103342862
GRCh38: 14:102876525-102876525
35 TRAF3 NM_145725.3(TRAF3):c.782A>G (p.Asn261Ser) SNV Uncertain significance 1061397 GRCh37: 14:103357717-103357717
GRCh38: 14:102891380-102891380
36 overlap with 2 genes NC_000014.8:g.(?_103336519)_(103397037_?)dup Duplication Uncertain significance 540505 GRCh37: 14:103336519-103397037
GRCh38: 14:102870182-102930700
37 TRAF3 NM_145725.3(TRAF3):c.1634A>G (p.Asn545Ser) SNV Uncertain significance 853572 GRCh37: 14:103372048-103372048
GRCh38: 14:102905711-102905711
38 TRAF3 NM_003300.4(TRAF3):c.856_857del (p.Lys286fs) Deletion Uncertain significance 540500 rs1555376796 GRCh37: 14:103363634-103363635
GRCh38: 14:102897297-102897298
39 TRAF3 NM_003300.4(TRAF3):c.676G>T (p.Val226Phe) SNV Uncertain significance 566532 rs1384888729 GRCh37: 14:103355921-103355921
GRCh38: 14:102889584-102889584
40 TRAF3 NM_003300.4(TRAF3):c.962G>A (p.Arg321Gln) SNV Uncertain significance 569056 rs148461790 GRCh37: 14:103369593-103369593
GRCh38: 14:102903256-102903256
41 TRAF3 NM_003300.4(TRAF3):c.487C>T (p.Arg163Ter) SNV Uncertain significance 570644 rs1566789877 GRCh37: 14:103342779-103342779
GRCh38: 14:102876442-102876442
42 TRAF3 NM_003300.4(TRAF3):c.488G>A (p.Arg163Gln) SNV Uncertain significance 570797 rs774090745 GRCh37: 14:103342780-103342780
GRCh38: 14:102876443-102876443
43 TRAF3 NM_003300.4(TRAF3):c.1200C>A (p.Ala400=) SNV Uncertain significance 573044 rs370697221 GRCh37: 14:103371614-103371614
GRCh38: 14:102905277-102905277
44 TRAF3 NM_003300.4(TRAF3):c.199G>A (p.Glu67Lys) SNV Uncertain significance 581158 rs1566786155 GRCh37: 14:103336737-103336737
GRCh38: 14:102870400-102870400
45 TRAF3 NM_003300.4(TRAF3):c.1021C>T (p.Arg341Trp) SNV Uncertain significance 642995 rs530010854 GRCh37: 14:103369652-103369652
GRCh38: 14:102903315-102903315
46 TRAF3 NM_003300.4(TRAF3):c.735C>A (p.Asn245Lys) SNV Uncertain significance 644351 rs753624346 GRCh37: 14:103357670-103357670
GRCh38: 14:102891333-102891333
47 overlap with 2 genes NC_000014.8:g.(?_103355877)_(103395332_?)dup Duplication Uncertain significance 649059 GRCh37: 14:103355877-103395332
GRCh38: 14:102889540-102928995
48 TRAF3 NM_003300.4(TRAF3):c.1109G>A (p.Ser370Asn) SNV Uncertain significance 657076 rs770905193 GRCh37: 14:103369740-103369740
GRCh38: 14:102903403-102903403
49 TRAF3 NM_003300.4(TRAF3):c.806C>T (p.Ser269Leu) SNV Uncertain significance 660898 rs369640883 GRCh37: 14:103357741-103357741
GRCh38: 14:102891404-102891404
50 TRAF3 NM_003300.4(TRAF3):c.297+6del Deletion Uncertain significance 665708 rs1595380677 GRCh37: 14:103338311-103338311
GRCh38: 14:102871974-102871974

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

72
# Symbol AA change Variation ID SNP ID
1 TRAF3 p.Arg118Trp VAR_069081 rs143813189

Expression for Encephalopathy, Acute, Infection-Induced 5

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