Encephalopathy, Acute, Infection-Induced 6 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

IIAE6 MCID: ENC037 MIFTS: 22	Encephalopathy, Acute, Infection-Induced 6 (IIAE6) Categories: Genetic diseases, Infectious diseases, Neuronal diseases, Rare diseases
Genes Variations Publications Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Infectious diseases Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 614850

OMIM Phenotypic Series ⁵⁷ PS610551

MeSH ⁴⁴ D020803

MedGen ⁴¹ C3553869

SNOMED-CT via HPO ⁶⁸ 258211005 263681008 428638009

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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

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Related Diseases for Encephalopathy, Acute, Infection-Induced 6

Diseases in the Encephalopathy, Acute, Infection-Induced 4 family:

Encephalopathy, Acute, Infection-Induced 1	Encephalopathy, Acute, Infection-Induced 2
Encephalopathy, Acute, Infection-Induced 5	Encephalopathy, Acute, Infection-Induced 6
Encephalopathy, Acute, Infection-Induced 7	Encephalopathy, Acute, Infection-Induced 8
Encephalopathy, Acute, Infection-Induced 9

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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)

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

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

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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

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Anatomical Context for Encephalopathy, Acute, Infection-Induced 6

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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	Mork N...Mogensen TH	26513235	2015
2	Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency. ⁶ ⁵⁷	Sancho-Shimizu V...Casanova JL	22105173	2011
3	p53 activated by AND gate genetic circuit under radiation and hypoxia for targeted cancer gene therapy. ⁶¹	Ding M...Wang W	26177264	2015
4	Heat shock factor 1 counteracts epigenetic silencing of nuclear transgenes in Chlamydomonas reinhardtii. ⁶¹	Strenkert D...Schroda M	23585280	2013

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Genes for Encephalopathy, Acute, Infection-Induced 6

Genes related to Encephalopathy, Acute, Infection-Induced 6 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TICAM1	Toll Like Receptor Adaptor Molecule 1	Protein Coding	975	Molecular basis known ⁵⁷ Causative variation ⁷² Genetic Tests ²⁹ Susceptibility factor ⁵⁷ Risk factor ⁶	26513235 22105173

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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

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Expression for Encephalopathy, Acute, Infection-Induced 6

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

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Pathways for Encephalopathy, Acute, Infection-Induced 6

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GO Terms for Encephalopathy, Acute, Infection-Induced 6

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Sources for Encephalopathy, Acute, Infection-Induced 6

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Encephalopathy, Acute, Infection-Induced 6 (IIAE6)

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

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

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Encephalopathy, Acute, Infection-Induced 6

Related Diseases for Encephalopathy, Acute, Infection-Induced 6

Diseases in the Encephalopathy, Acute, Infection-Induced 4 family:

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

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

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

Genetic Tests for Encephalopathy, Acute, Infection-Induced 6

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

Anatomical Context for Encephalopathy, Acute, Infection-Induced 6

Publications for Encephalopathy, Acute, Infection-Induced 6

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

Genes for Encephalopathy, Acute, Infection-Induced 6

Genes related to Encephalopathy, Acute, Infection-Induced 6 (1 elite genes):

Variations for Encephalopathy, Acute, Infection-Induced 6

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

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

Expression 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