IIAE6
MCID: ENC037
MIFTS: 21

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 74
Iiae6 57 74
Encephalopathy, Acute, Infection-Induced , Susceptibility to, 6 57
Encephalopathy, Acute, Infection-Induced, Susceptibility to, 6 13
Encephalopathy, Acute, Infection-Induced, Herpes-Specific, 6 74
Herpes Simplex Encephalitis, Susceptibility to, Type 4 40
Encephalopathy, Acute, Infection-Induced, 6 74
Hse4 74

Characteristics:

OMIM:

57
Miscellaneous:
incomplete penetrance
variable age at onset, childhood to adult

Inheritance:
autosomal recessive
autosomal dominant


HPO:

32
encephalopathy, acute, infection-induced 6:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

MeSH 44 D020803
MedGen 42 C3553869

Summaries for Encephalopathy, Acute, Infection-Induced 6

UniProtKB/Swiss-Prot : 74 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:

32 (showing 1, show less)
# Description HPO Frequency HPO Source Accession
1 herpes simplex encephalitis 32 HP:0012302

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
herpes simplex encephalitis

Immunology:
impaired interferon response to hsv infection

Clinical features from OMIM:

614850

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:

(showing 4, show less)
# Title Authors PMID Year
1
Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis. 8 71
26513235 2015
2
Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency. 8 71
22105173 2011
3
p53 activated by AND gate genetic circuit under radiation and hypoxia for targeted cancer gene therapy. 38
26177264 2015
4
Heat shock factor 1 counteracts epigenetic silencing of nuclear transgenes in Chlamydomonas reinhardtii. 38
23585280 2013

Variations for Encephalopathy, Acute, Infection-Induced 6

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

6 (showing 51, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TICAM1 NM_182919.3(TICAM1): c.421C> T (p.Arg141Ter) single nucleotide variant risk factor rs387907307 19:4817969-4817969 19:4817957-4817957
2 TICAM1 NM_182919.3(TICAM1): c.749C> T (p.Pro250Leu) single nucleotide variant risk factor rs1555730283 19:4817641-4817641 19:4817629-4817629
3 TICAM1 NM_182919.3(TICAM1): c.269C> A (p.Pro90Gln) single nucleotide variant Uncertain significance rs141687483 19:4818121-4818121 19:4818109-4818109
4 TICAM1 NM_182919.3(TICAM1): c.1669G> A (p.Asp557Asn) single nucleotide variant Uncertain significance rs143066432 19:4816721-4816721 19:4816709-4816709
5 TICAM1 NM_182919.3(TICAM1): c.1388G> A (p.Arg463His) single nucleotide variant Uncertain significance rs1555730200 19:4817002-4817002 19:4816990-4816990
6 TICAM1 NM_182919.3(TICAM1): c.1264C> T (p.Pro422Ser) single nucleotide variant Uncertain significance rs140568066 19:4817126-4817126 19:4817114-4817114
7 TICAM1 NM_182919.3(TICAM1): c.614G> A (p.Ser205Asn) single nucleotide variant Uncertain significance rs754876060 19:4817776-4817776 19:4817764-4817764
8 TICAM1 NM_182919.3(TICAM1): c.1556T> A (p.Ile519Asn) single nucleotide variant Uncertain significance rs772590478 19:4816834-4816834 19:4816822-4816822
9 TICAM1 NM_182919.3(TICAM1): c.538C> T (p.Arg180Cys) single nucleotide variant Uncertain significance rs141394423 19:4817852-4817852 19:4817840-4817840
10 TICAM1 NM_182919.3(TICAM1): c.238G> A (p.Val80Met) single nucleotide variant Uncertain significance rs199816697 19:4818152-4818152 19:4818140-4818140
11 TICAM1 NM_182919.3(TICAM1): c.557C> T (p.Ser186Leu) single nucleotide variant Uncertain significance rs146550489 19:4817833-4817833 19:4817821-4817821
12 TICAM1 NM_182919.3(TICAM1): c.395G> A (p.Arg132Gln) single nucleotide variant Uncertain significance 19:4817995-4817995 19:4817983-4817983
13 TICAM1 NM_182919.3(TICAM1): c.364G> A (p.Val122Ile) single nucleotide variant Uncertain significance 19:4818026-4818026 19:4818014-4818014
14 TICAM1 NM_182919.3(TICAM1): c.331G> A (p.Ala111Thr) single nucleotide variant Uncertain significance 19:4818059-4818059 19:4818047-4818047
15 TICAM1 NM_182919.3(TICAM1): c.7T> G (p.Cys3Gly) single nucleotide variant Uncertain significance 19:4818383-4818383 19:4818371-4818371
16 TICAM1 NM_182919.3(TICAM1): c.1720C> G (p.Leu574Val) single nucleotide variant Uncertain significance 19:4816670-4816670 19:4816658-4816658
17 TICAM1 NM_182919.3(TICAM1): c.1078_1080CCT[10] (p.Pro366_Pro367dup) short repeat Uncertain significance 19:4817289-4817294 19:4817277-4817282
18 TICAM1 NM_182919.3(TICAM1): c.935A> G (p.Gln312Arg) single nucleotide variant Uncertain significance 19:4817455-4817455 19:4817443-4817443
19 TICAM1 NM_182919.3(TICAM1): c.470C> T (p.Thr157Met) single nucleotide variant Uncertain significance 19:4817920-4817920 19:4817908-4817908
20 TICAM1 NM_182919.3(TICAM1): c.434G> T (p.Gly145Val) single nucleotide variant Uncertain significance 19:4817956-4817956 19:4817944-4817944
21 TICAM1 NM_182919.3(TICAM1): c.346G> A (p.Val116Met) single nucleotide variant Uncertain significance 19:4818044-4818044 19:4818032-4818032
22 TICAM1 NM_182919.3(TICAM1): c.197C> T (p.Ala66Val) single nucleotide variant Uncertain significance 19:4818193-4818193 19:4818181-4818181
23 TICAM1 NM_182919.3(TICAM1): c.443T> C (p.Ile148Thr) single nucleotide variant Uncertain significance 19:4817947-4817947 19:4817935-4817935
24 TICAM1 NM_182919.3(TICAM1): c.697G> C (p.Asp233His) single nucleotide variant Uncertain significance 19:4817693-4817693 19:4817681-4817681
25 TICAM1 NM_182919.3(TICAM1): c.721G> A (p.Glu241Lys) single nucleotide variant Uncertain significance 19:4817669-4817669 19:4817657-4817657
26 TICAM1 NM_182919.3(TICAM1): c.2107G> A (p.Ala703Thr) single nucleotide variant Uncertain significance 19:4816283-4816283 19:4816271-4816271
27 TICAM1 NM_182919.3(TICAM1): c.212G> A (p.Arg71Gln) single nucleotide variant Uncertain significance 19:4818178-4818178 19:4818166-4818166
28 TICAM1 NM_182919.3(TICAM1): c.446C> G (p.Ala149Gly) single nucleotide variant Uncertain significance 19:4817944-4817944 19:4817932-4817932
29 TICAM1 NM_182919.3(TICAM1): c.697G> A (p.Asp233Asn) single nucleotide variant Uncertain significance 19:4817693-4817693 19:4817681-4817681
30 TICAM1 NM_182919.3(TICAM1): c.718C> T (p.Pro240Ser) single nucleotide variant Uncertain significance 19:4817672-4817672 19:4817660-4817660
31 TICAM1 NM_182919.3(TICAM1): c.826C> T (p.Pro276Ser) single nucleotide variant Uncertain significance 19:4817564-4817564 19:4817552-4817552
32 TICAM1 NM_182919.3(TICAM1): c.1054A> C (p.Thr352Pro) single nucleotide variant Uncertain significance 19:4817336-4817336 19:4817324-4817324
33 TICAM1 NM_182919.3(TICAM1): c.1130C> A (p.Thr377Asn) single nucleotide variant Uncertain significance 19:4817260-4817260 19:4817248-4817248
34 TICAM1 NM_182919.3(TICAM1): c.1216G> A (p.Glu406Lys) single nucleotide variant Uncertain significance 19:4817174-4817174 19:4817162-4817162
35 TICAM1 NM_182919.3(TICAM1): c.1632G> C (p.Gln544His) single nucleotide variant Uncertain significance 19:4816758-4816758 19:4816746-4816746
36 TICAM1 NM_182919.3(TICAM1): c.1774G> A (p.Gly592Arg) single nucleotide variant Uncertain significance 19:4816616-4816616 19:4816604-4816604
37 TICAM1 NM_182919.3(TICAM1): c.1882C> T (p.Pro628Ser) single nucleotide variant Uncertain significance 19:4816508-4816508 19:4816496-4816496
38 TICAM1 NM_182919.3(TICAM1): c.733G> A (p.Gly245Ser) single nucleotide variant Likely benign rs151272128 19:4817657-4817657 19:4817645-4817645
39 TICAM1 NM_182919.3(TICAM1): c.549C> T (p.Asp183=) single nucleotide variant Likely benign rs759330259 19:4817841-4817841 19:4817829-4817829
40 TICAM1 NM_182919.3(TICAM1): c.1755G> A (p.Glu585=) single nucleotide variant Likely benign rs1332617784 19:4816635-4816635 19:4816623-4816623
41 TICAM1 NM_182919.3(TICAM1): c.479C> T (p.Ser160Phe) single nucleotide variant Likely benign rs145148929 19:4817911-4817911 19:4817899-4817899
42 TICAM1 NM_182919.3(TICAM1): c.330C> T (p.Pro110=) single nucleotide variant Likely benign rs373242041 19:4818060-4818060 19:4818048-4818048
43 TICAM1 NM_182919.3(TICAM1): c.696C> T (p.Asp232=) single nucleotide variant Likely benign rs574449966 19:4817694-4817694 19:4817682-4817682
44 TICAM1 NM_182919.3(TICAM1): c.1260C> T (p.Gly420=) single nucleotide variant Likely benign rs144531955 19:4817130-4817130 19:4817118-4817118
45 TICAM1 NM_182919.3(TICAM1): c.927A> G (p.Ala309=) single nucleotide variant Likely benign rs1555730261 19:4817463-4817463 19:4817451-4817451
46 TICAM1 NM_182919.3(TICAM1): c.1702G> A (p.Ala568Thr) single nucleotide variant Likely benign rs143679494 19:4816688-4816688 19:4816676-4816676
47 TICAM1 NM_182919.3(TICAM1): c.1763A> C (p.Gln588Pro) single nucleotide variant Benign rs199784356 19:4816627-4816627 19:4816615-4816615
48 TICAM1 NM_182919.3(TICAM1): c.1803G> A (p.Ala601=) single nucleotide variant Benign rs11466723 19:4816587-4816587 19:4816575-4816575
49 TICAM1 NM_182919.3(TICAM1): c.223C> T (p.Arg75Cys) single nucleotide variant Benign rs11466719 19:4818167-4818167 19:4818155-4818155
50 TICAM1 NM_182919.3(TICAM1): c.95C> T (p.Thr32Ile) single nucleotide variant Benign rs79591246 19:4818295-4818295 19:4818283-4818283
51 TICAM1 NM_182919.3(TICAM1): c.306G> A (p.Leu102=) single nucleotide variant Benign rs11466720 19:4818084-4818084 19:4818072-4818072

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

74 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 TICAM1 p.Ser186Leu VAR_069082 rs146550489

Expression for Encephalopathy, Acute, Infection-Induced 6

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GO Terms for Encephalopathy, Acute, Infection-Induced 6

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