IIAE6
MCID: ENC037
MIFTS: 22

Encephalopathy, Acute, Infection-Induced 6 (IIAE6)

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

Aliases & Classifications for Encephalopathy, Acute, Infection-Induced 6

MalaCards integrated aliases for Encephalopathy, Acute, Infection-Induced 6:

Name: Encephalopathy, Acute, Infection-Induced 6 57
Herpes Simplex Encephalitis, Susceptibility to, 4 57 29 6
Herpes Simplex Encephalitis 4 57 72
Iiae6 57 72
Encephalopathy, Acute, Infection-Induced , Susceptibility to, 6 57
Encephalopathy, Acute, Infection-Induced, Susceptibility to, 6 13
Encephalopathy, Acute, Infection-Induced, Herpes-Specific, 6 72
Herpes Simplex Encephalitis, Susceptibility to, Type 4 39
Encephalopathy, Acute, Infection-Induced, 6 72
Hse4 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
incomplete penetrance
variable age at onset, childhood to adult

Inheritance:
autosomal recessive
autosomal dominant


HPO:

31
encephalopathy, acute, infection-induced 6:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM® 57 614850
OMIM Phenotypic Series 57 PS610551
MeSH 44 D020803
MedGen 41 C3553869
SNOMED-CT via HPO 68 258211005 263681008 428638009

Summaries for Encephalopathy, Acute, Infection-Induced 6

UniProtKB/Swiss-Prot : 72 Encephalopathy, acute, infection-induced, Herpes-specific, 6: 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 6, is also known as herpes simplex encephalitis, susceptibility to, 4. An important gene associated with Encephalopathy, Acute, Infection-Induced 6 is TICAM1 (Toll Like Receptor Adaptor Molecule 1). Related phenotype is herpes simplex encephalitis.

More information from OMIM: 614850 PS610551

Related Diseases for Encephalopathy, Acute, Infection-Induced 6

Symptoms & Phenotypes for Encephalopathy, Acute, Infection-Induced 6

Human phenotypes related to Encephalopathy, Acute, Infection-Induced 6:

31
# Description HPO Frequency HPO Source Accession
1 herpes simplex encephalitis 31 HP:0012302

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
herpes simplex encephalitis

Immunology:
impaired interferon response to hsv infection

Clinical features from OMIM®:

614850 (Updated 20-May-2021)

Drugs & Therapeutics for Encephalopathy, Acute, Infection-Induced 6

Search Clinical Trials , NIH Clinical Center for Encephalopathy, Acute, Infection-Induced 6

Genetic Tests for Encephalopathy, Acute, Infection-Induced 6

Genetic tests related to Encephalopathy, Acute, Infection-Induced 6:

# Genetic test Affiliating Genes
1 Herpes Simplex Encephalitis, Susceptibility to, 4 29 TICAM1

Anatomical Context for Encephalopathy, Acute, Infection-Induced 6

Publications for Encephalopathy, Acute, Infection-Induced 6

Articles related to Encephalopathy, Acute, Infection-Induced 6:

# Title Authors PMID Year
1
Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis. 57 6
26513235 2015
2
Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency. 6 57
22105173 2011
3
p53 activated by AND gate genetic circuit under radiation and hypoxia for targeted cancer gene therapy. 61
26177264 2015
4
Heat shock factor 1 counteracts epigenetic silencing of nuclear transgenes in Chlamydomonas reinhardtii. 61
23585280 2013

Variations for Encephalopathy, Acute, Infection-Induced 6

ClinVar genetic disease variations for Encephalopathy, Acute, Infection-Induced 6:

6 (show top 50) (show all 131)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TICAM1 NM_182919.3(TICAM1):c.749C>T (p.Pro250Leu) SNV risk factor 495309 rs1555730283 GRCh37: 19:4817641-4817641
GRCh38: 19:4817629-4817629
2 TICAM1 NM_182919.3(TICAM1):c.421C>T (p.Arg141Ter) SNV risk factor 37265 rs387907307 GRCh37: 19:4817969-4817969
GRCh38: 19:4817957-4817957
3 TICAM1 NM_182919.3(TICAM1):c.1702G>A (p.Ala568Thr) SNV Conflicting interpretations of pathogenicity 473292 rs143679494 GRCh37: 19:4816688-4816688
GRCh38: 19:4816676-4816676
4 TICAM1 NM_182919.3(TICAM1):c.557C>T (p.Ser186Leu) SNV Uncertain significance 37266 rs146550489 GRCh37: 19:4817833-4817833
GRCh38: 19:4817821-4817821
5 TICAM1 NM_182919.3(TICAM1):c.238G>A (p.Val80Met) SNV Uncertain significance 540506 rs199816697 GRCh37: 19:4818152-4818152
GRCh38: 19:4818140-4818140
6 TICAM1 NM_182919.3(TICAM1):c.1556T>A (p.Ile519Asn) SNV Uncertain significance 540507 rs772590478 GRCh37: 19:4816834-4816834
GRCh38: 19:4816822-4816822
7 TICAM1 NM_182919.3(TICAM1):c.538C>T (p.Arg180Cys) SNV Uncertain significance 540508 rs141394423 GRCh37: 19:4817852-4817852
GRCh38: 19:4817840-4817840
8 TICAM1 NM_182919.3(TICAM1):c.1388G>A (p.Arg463His) SNV Uncertain significance 540509 rs1555730200 GRCh37: 19:4817002-4817002
GRCh38: 19:4816990-4816990
9 TICAM1 NM_182919.3(TICAM1):c.1669G>A (p.Asp557Asn) SNV Uncertain significance 540510 rs143066432 GRCh37: 19:4816721-4816721
GRCh38: 19:4816709-4816709
10 TICAM1 NM_182919.3(TICAM1):c.614G>A (p.Ser205Asn) SNV Uncertain significance 540511 rs754876060 GRCh37: 19:4817776-4817776
GRCh38: 19:4817764-4817764
11 TICAM1 NM_182919.3(TICAM1):c.1264C>T (p.Pro422Ser) SNV Uncertain significance 540512 rs140568066 GRCh37: 19:4817126-4817126
GRCh38: 19:4817114-4817114
12 TICAM1 NM_182919.3(TICAM1):c.443T>C (p.Ile148Thr) SNV Uncertain significance 565737 rs1202936308 GRCh37: 19:4817947-4817947
GRCh38: 19:4817935-4817935
13 TICAM1 NM_182919.3(TICAM1):c.331G>A (p.Ala111Thr) SNV Uncertain significance 571951 rs201291933 GRCh37: 19:4818059-4818059
GRCh38: 19:4818047-4818047
14 TICAM1 NM_182919.3(TICAM1):c.395G>A (p.Arg132Gln) SNV Uncertain significance 572017 rs755557071 GRCh37: 19:4817995-4817995
GRCh38: 19:4817983-4817983
15 TICAM1 NM_182919.3(TICAM1):c.197C>T (p.Ala66Val) SNV Uncertain significance 575717 rs1437926927 GRCh37: 19:4818193-4818193
GRCh38: 19:4818181-4818181
16 TICAM1 NM_182919.3(TICAM1):c.470C>T (p.Thr157Met) SNV Uncertain significance 577610 rs770166865 GRCh37: 19:4817920-4817920
GRCh38: 19:4817908-4817908
17 TICAM1 NM_182919.3(TICAM1):c.721G>A (p.Glu241Lys) SNV Uncertain significance 577787 rs370487475 GRCh37: 19:4817669-4817669
GRCh38: 19:4817657-4817657
18 TICAM1 NM_182919.3(TICAM1):c.935A>G (p.Gln312Arg) SNV Uncertain significance 580273 rs763590950 GRCh37: 19:4817455-4817455
GRCh38: 19:4817443-4817443
19 TICAM1 NM_182919.3(TICAM1):c.434G>T (p.Gly145Val) SNV Uncertain significance 580546 rs753365777 GRCh37: 19:4817956-4817956
GRCh38: 19:4817944-4817944
20 TICAM1 NM_182919.3(TICAM1):c.2107G>A (p.Ala703Thr) SNV Uncertain significance 580558 rs200326236 GRCh37: 19:4816283-4816283
GRCh38: 19:4816271-4816271
21 TICAM1 NM_182919.3(TICAM1):c.1720C>G (p.Leu574Val) SNV Uncertain significance 582681 rs148925210 GRCh37: 19:4816670-4816670
GRCh38: 19:4816658-4816658
22 TICAM1 NM_182919.3(TICAM1):c.346G>A (p.Val116Met) SNV Uncertain significance 583177 rs199683447 GRCh37: 19:4818044-4818044
GRCh38: 19:4818032-4818032
23 TICAM1 NM_182919.3(TICAM1):c.7T>G (p.Cys3Gly) SNV Uncertain significance 583277 rs777499533 GRCh37: 19:4818383-4818383
GRCh38: 19:4818371-4818371
24 TICAM1 NM_182919.3(TICAM1):c.446C>G (p.Ala149Gly) SNV Uncertain significance 639799 rs1599143486 GRCh37: 19:4817944-4817944
GRCh38: 19:4817932-4817932
25 TICAM1 NM_182919.3(TICAM1):c.1054A>C (p.Thr352Pro) SNV Uncertain significance 640812 rs772349684 GRCh37: 19:4817336-4817336
GRCh38: 19:4817324-4817324
26 TICAM1 NM_182919.3(TICAM1):c.697G>A (p.Asp233Asn) SNV Uncertain significance 647906 rs141739488 GRCh37: 19:4817693-4817693
GRCh38: 19:4817681-4817681
27 TICAM1 NM_182919.3(TICAM1):c.718C>T (p.Pro240Ser) SNV Uncertain significance 647981 rs201853120 GRCh37: 19:4817672-4817672
GRCh38: 19:4817660-4817660
28 TICAM1 NM_182919.3(TICAM1):c.1882C>T (p.Pro628Ser) SNV Uncertain significance 648127 rs3177471 GRCh37: 19:4816508-4816508
GRCh38: 19:4816496-4816496
29 TICAM1 NM_182919.3(TICAM1):c.1774G>A (p.Gly592Arg) SNV Uncertain significance 651722 rs74359855 GRCh37: 19:4816616-4816616
GRCh38: 19:4816604-4816604
30 TICAM1 NM_182919.3(TICAM1):c.212G>A (p.Arg71Gln) SNV Uncertain significance 652791 rs372818181 GRCh37: 19:4818178-4818178
GRCh38: 19:4818166-4818166
31 TICAM1 NM_182919.3(TICAM1):c.826C>T (p.Pro276Ser) SNV Uncertain significance 653357 rs1032622935 GRCh37: 19:4817564-4817564
GRCh38: 19:4817552-4817552
32 TICAM1 NM_182919.3(TICAM1):c.1216G>A (p.Glu406Lys) SNV Uncertain significance 657195 rs751265594 GRCh37: 19:4817174-4817174
GRCh38: 19:4817162-4817162
33 TICAM1 NM_182919.3(TICAM1):c.1632G>C (p.Gln544His) SNV Uncertain significance 660258 rs1284363590 GRCh37: 19:4816758-4816758
GRCh38: 19:4816746-4816746
34 TICAM1 NM_182919.3(TICAM1):c.1130C>A (p.Thr377Asn) SNV Uncertain significance 664321 rs147816959 GRCh37: 19:4817260-4817260
GRCh38: 19:4817248-4817248
35 TICAM1 NM_182919.4(TICAM1):c.1564A>G (p.Arg522Gly) SNV Uncertain significance 933857 GRCh37: 19:4816826-4816826
GRCh38: 19:4816814-4816814
36 TICAM1 NM_182919.4(TICAM1):c.1222A>G (p.Ile408Val) SNV Uncertain significance 934612 GRCh37: 19:4817168-4817168
GRCh38: 19:4817156-4817156
37 TICAM1 NM_182919.4(TICAM1):c.1813G>A (p.Ala605Thr) SNV Uncertain significance 934852 GRCh37: 19:4816577-4816577
GRCh38: 19:4816565-4816565
38 TICAM1 NM_182919.4(TICAM1):c.65A>G (p.Lys22Arg) SNV Uncertain significance 936097 GRCh37: 19:4818325-4818325
GRCh38: 19:4818313-4818313
39 TICAM1 NM_182919.4(TICAM1):c.1902C>G (p.His634Gln) SNV Uncertain significance 937595 GRCh37: 19:4816488-4816488
GRCh38: 19:4816476-4816476
40 TICAM1 NM_182919.4(TICAM1):c.451G>A (p.Asp151Asn) SNV Uncertain significance 938935 GRCh37: 19:4817939-4817939
GRCh38: 19:4817927-4817927
41 TICAM1 NM_182919.4(TICAM1):c.1043C>T (p.Pro348Leu) SNV Uncertain significance 940076 GRCh37: 19:4817347-4817347
GRCh38: 19:4817335-4817335
42 TICAM1 NM_182919.4(TICAM1):c.665G>A (p.Arg222His) SNV Uncertain significance 943073 GRCh37: 19:4817725-4817725
GRCh38: 19:4817713-4817713
43 TICAM1 NM_182919.4(TICAM1):c.1919C>T (p.Thr640Ile) SNV Uncertain significance 944357 GRCh37: 19:4816471-4816471
GRCh38: 19:4816459-4816459
44 TICAM1 NM_182919.4(TICAM1):c.1169C>T (p.Ser390Leu) SNV Uncertain significance 948705 GRCh37: 19:4817221-4817221
GRCh38: 19:4817209-4817209
45 TICAM1 NM_182919.4(TICAM1):c.445G>A (p.Ala149Thr) SNV Uncertain significance 950290 GRCh37: 19:4817945-4817945
GRCh38: 19:4817933-4817933
46 TICAM1 NM_182919.4(TICAM1):c.1454G>A (p.Cys485Tyr) SNV Uncertain significance 953977 GRCh37: 19:4816936-4816936
GRCh38: 19:4816924-4816924
47 TICAM1 NM_182919.4(TICAM1):c.1524C>A (p.Ser508=) SNV Uncertain significance 955799 GRCh37: 19:4816866-4816866
GRCh38: 19:4816854-4816854
48 TICAM1 NM_182919.4(TICAM1):c.260A>T (p.Glu87Val) SNV Uncertain significance 956078 GRCh37: 19:4818130-4818130
GRCh38: 19:4818118-4818118
49 TICAM1 NM_182919.4(TICAM1):c.273T>G (p.Asp91Glu) SNV Uncertain significance 966315 GRCh37: 19:4818117-4818117
GRCh38: 19:4818105-4818105
50 TICAM1 NM_182919.4(TICAM1):c.134C>T (p.Ala45Val) SNV Uncertain significance 971919 GRCh37: 19:4818256-4818256
GRCh38: 19:4818244-4818244

UniProtKB/Swiss-Prot genetic disease variations for Encephalopathy, Acute, Infection-Induced 6:

72
# Symbol AA change Variation ID SNP ID
1 TICAM1 p.Ser186Leu VAR_069082 rs146550489

Expression for Encephalopathy, Acute, Infection-Induced 6

Search GEO for disease gene expression data for Encephalopathy, Acute, Infection-Induced 6.

Pathways for Encephalopathy, Acute, Infection-Induced 6

GO Terms for Encephalopathy, Acute, Infection-Induced 6

Sources for Encephalopathy, Acute, Infection-Induced 6

3 CDC
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11 DGIdb
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61 PubMed
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69 Tocris
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71 UMLS via Orphanet
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