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

IIAE6 MCID: ENC037 MIFTS: 21	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 ⁵⁶

Herpes Simplex Encephalitis, Susceptibility to, 4 ⁵⁶ ²⁹ ⁶

Herpes Simplex Encephalitis 4 ⁵⁶ ⁷³

Iiae6 ⁵⁶ ⁷³

Encephalopathy, Acute, Infection-Induced , Susceptibility to, 6 ⁵⁶

Encephalopathy, Acute, Infection-Induced, Susceptibility to, 6 ¹³

Encephalopathy, Acute, Infection-Induced, Herpes-Specific, 6 ⁷³

Herpes Simplex Encephalitis, Susceptibility to, Type 4 ³⁹

Encephalopathy, Acute, Infection-Induced, 6 ⁷³

Hse4 ⁷³

Characteristics:

OMIM:

⁵⁶

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 ⁵⁶ 614850

OMIM Phenotypic Series ⁵⁶ PS610551

MeSH ⁴³ 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 : ⁷³ 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:

⁵⁶

Neurologic Central Nervous System:
herpes simplex encephalitis

Immunology:
impaired interferon response to hsv infection

Clinical features from OMIM:

614850

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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. ⁵⁶ ⁶	Mork N...Mogensen TH	26513235	2015
2	Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency. ⁶ ⁵⁶	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	PubmedIds
1	TICAM1	Toll Like Receptor Adaptor Molecule 1	Protein Coding	975	Molecular basis known ⁵⁶ Causative variation ⁷³ Genetic Tests ²⁹ Susceptibility factor ⁵⁶ Risk factor ⁶	22105173 26513235

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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 87) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TICAM1	NM_182919.3(TICAM1):c.749C>T (p.Pro250Leu)	SNV	risk factor	495309	rs1555730283	19:4817641-4817641	19:4817629-4817629
2	TICAM1	NM_182919.3(TICAM1):c.421C>T (p.Arg141Ter)	SNV	risk factor	37265	rs387907307	19:4817969-4817969	19:4817957-4817957
3	TICAM1	NM_182919.3(TICAM1):c.557C>T (p.Ser186Leu)	SNV	Uncertain significance	37266	rs146550489	19:4817833-4817833	19:4817821-4817821
4	TICAM1	NM_182919.3(TICAM1):c.395G>A (p.Arg132Gln)	SNV	Uncertain significance	572017	rs755557071	19:4817995-4817995	19:4817983-4817983
5	TICAM1	NM_182919.4(TICAM1):c.1972C>T (p.Pro658Ser)	SNV	Uncertain significance	841080		19:4816418-4816418	19:4816406-4816406
6	TICAM1	NM_182919.4(TICAM1):c.1925dup (p.Pro643fs)	duplication	Uncertain significance	864017		19:4816464-4816465	19:4816452-4816453
7	TICAM1	NM_182919.4(TICAM1):c.1889C>T (p.Pro630Leu)	SNV	Uncertain significance	842138		19:4816501-4816501	19:4816489-4816489
8	TICAM1	NM_182919.4(TICAM1):c.1883C>T (p.Pro628Leu)	SNV	Uncertain significance	854424		19:4816507-4816507	19:4816495-4816495
9	TICAM1	NM_182919.4(TICAM1):c.1628A>T (p.Glu543Val)	SNV	Uncertain significance	851825		19:4816762-4816762	19:4816750-4816750
10	TICAM1	NM_182919.4(TICAM1):c.1441G>A (p.Gly481Arg)	SNV	Uncertain significance	851168		19:4816949-4816949	19:4816937-4816937
11	TICAM1	NM_182919.4(TICAM1):c.1049C>A (p.Pro350Gln)	SNV	Uncertain significance	862127		19:4817341-4817341	19:4817329-4817329
12	TICAM1	NM_182919.4(TICAM1):c.1028C>T (p.Ser343Phe)	SNV	Uncertain significance	834714		19:4817362-4817362	19:4817350-4817350
13	TICAM1	NM_182919.4(TICAM1):c.1024A>C (p.Thr342Pro)	SNV	Uncertain significance	840071		19:4817366-4817366	19:4817354-4817354
14	TICAM1	NM_182919.4(TICAM1):c.812C>T (p.Pro271Leu)	SNV	Uncertain significance	851740		19:4817578-4817578	19:4817566-4817566
15	TICAM1	NM_182919.4(TICAM1):c.773C>T (p.Ser258Leu)	SNV	Uncertain significance	861876		19:4817617-4817617	19:4817605-4817605
16	TICAM1	NM_182919.4(TICAM1):c.731C>T (p.Pro244Leu)	SNV	Uncertain significance	842575		19:4817659-4817659	19:4817647-4817647
17	TICAM1	NM_182919.4(TICAM1):c.566G>C (p.Ser189Thr)	SNV	Uncertain significance	845325		19:4817824-4817824	19:4817812-4817812
18	TICAM1	NM_182919.4(TICAM1):c.558G>A (p.Ser186=)	SNV	Uncertain significance	844714		19:4817832-4817832	19:4817820-4817820
19	TICAM1	NM_182919.4(TICAM1):c.539G>A (p.Arg180His)	SNV	Uncertain significance	837687		19:4817851-4817851	19:4817839-4817839
20	TICAM1	NM_182919.4(TICAM1):c.514C>T (p.Pro172Ser)	SNV	Uncertain significance	836652		19:4817876-4817876	19:4817864-4817864
21	TICAM1	NM_182919.4(TICAM1):c.484C>G (p.Leu162Val)	SNV	Uncertain significance	843563		19:4817906-4817906	19:4817894-4817894
22	TICAM1	NM_182919.4(TICAM1):c.235G>A (p.Gly79Ser)	SNV	Uncertain significance	844805		19:4818155-4818155	19:4818143-4818143
23	TICAM1	NM_182919.4(TICAM1):c.37G>A (p.Asp13Asn)	SNV	Uncertain significance	850876		19:4818353-4818353	19:4818341-4818341
24	TICAM1	NM_182919.3(TICAM1):c.1669G>A (p.Asp557Asn)	SNV	Uncertain significance	540510	rs143066432	19:4816721-4816721	19:4816709-4816709
25	TICAM1	NM_182919.3(TICAM1):c.1388G>A (p.Arg463His)	SNV	Uncertain significance	540509	rs1555730200	19:4817002-4817002	19:4816990-4816990
26	TICAM1	NM_182919.3(TICAM1):c.269C>A (p.Pro90Gln)	SNV	Uncertain significance	473293	rs141687483	19:4818121-4818121	19:4818109-4818109
27	TICAM1	NM_182919.3(TICAM1):c.1264C>T (p.Pro422Ser)	SNV	Uncertain significance	540512	rs140568066	19:4817126-4817126	19:4817114-4817114
28	TICAM1	NM_182919.3(TICAM1):c.614G>A (p.Ser205Asn)	SNV	Uncertain significance	540511	rs754876060	19:4817776-4817776	19:4817764-4817764
29	TICAM1	NM_182919.3(TICAM1):c.1556T>A (p.Ile519Asn)	SNV	Uncertain significance	540507	rs772590478	19:4816834-4816834	19:4816822-4816822
30	TICAM1	NM_182919.3(TICAM1):c.538C>T (p.Arg180Cys)	SNV	Uncertain significance	540508	rs141394423	19:4817852-4817852	19:4817840-4817840
31	TICAM1	NM_182919.3(TICAM1):c.238G>A (p.Val80Met)	SNV	Uncertain significance	540506	rs199816697	19:4818152-4818152	19:4818140-4818140
32	TICAM1	NM_182919.3(TICAM1):c.331G>A (p.Ala111Thr)	SNV	Uncertain significance	571951	rs201291933	19:4818059-4818059	19:4818047-4818047
33	TICAM1	NM_182919.3(TICAM1):c.7T>G (p.Cys3Gly)	SNV	Uncertain significance	583277	rs777499533	19:4818383-4818383	19:4818371-4818371
34	TICAM1	NM_182919.3(TICAM1):c.1720C>G (p.Leu574Val)	SNV	Uncertain significance	582681	rs148925210	19:4816670-4816670	19:4816658-4816658
35	TICAM1	NM_182919.3(TICAM1):c.1078_1080CCT[10] (p.Pro366_Pro367dup)	short repeat	Uncertain significance	566492	rs11466722	19:4817288-4817289	19:4817276-4817277
36	TICAM1	NM_182919.3(TICAM1):c.935A>G (p.Gln312Arg)	SNV	Uncertain significance	580273	rs763590950	19:4817455-4817455	19:4817443-4817443
37	TICAM1	NM_182919.3(TICAM1):c.470C>T (p.Thr157Met)	SNV	Uncertain significance	577610	rs770166865	19:4817920-4817920	19:4817908-4817908
38	TICAM1	NM_182919.3(TICAM1):c.434G>T (p.Gly145Val)	SNV	Uncertain significance	580546	rs753365777	19:4817956-4817956	19:4817944-4817944
39	TICAM1	NM_182919.3(TICAM1):c.2107G>A (p.Ala703Thr)	SNV	Uncertain significance	580558	rs200326236	19:4816283-4816283	19:4816271-4816271
40	TICAM1	NM_182919.3(TICAM1):c.721G>A (p.Glu241Lys)	SNV	Uncertain significance	577787	rs370487475	19:4817669-4817669	19:4817657-4817657
41	TICAM1	NM_182919.3(TICAM1):c.697G>C (p.Asp233His)	SNV	Uncertain significance	571835	rs141739488	19:4817693-4817693	19:4817681-4817681
42	TICAM1	NM_182919.3(TICAM1):c.346G>A (p.Val116Met)	SNV	Uncertain significance	583177	rs199683447	19:4818044-4818044	19:4818032-4818032
43	TICAM1	NM_182919.3(TICAM1):c.197C>T (p.Ala66Val)	SNV	Uncertain significance	575717	rs1437926927	19:4818193-4818193	19:4818181-4818181
44	TICAM1	NM_182919.3(TICAM1):c.443T>C (p.Ile148Thr)	SNV	Uncertain significance	565737	rs1202936308	19:4817947-4817947	19:4817935-4817935
45	TICAM1	NM_182919.3(TICAM1):c.1882C>T (p.Pro628Ser)	SNV	Uncertain significance	648127		19:4816508-4816508	19:4816496-4816496
46	TICAM1	NM_182919.3(TICAM1):c.1774G>A (p.Gly592Arg)	SNV	Uncertain significance	651722		19:4816616-4816616	19:4816604-4816604
47	TICAM1	NM_182919.3(TICAM1):c.1632G>C (p.Gln544His)	SNV	Uncertain significance	660258		19:4816758-4816758	19:4816746-4816746
48	TICAM1	NM_182919.3(TICAM1):c.1216G>A (p.Glu406Lys)	SNV	Uncertain significance	657195		19:4817174-4817174	19:4817162-4817162
49	TICAM1	NM_182919.3(TICAM1):c.1130C>A (p.Thr377Asn)	SNV	Uncertain significance	664321		19:4817260-4817260	19:4817248-4817248
50	TICAM1	NM_182919.3(TICAM1):c.1054A>C (p.Thr352Pro)	SNV	Uncertain significance	640812		19:4817336-4817336	19:4817324-4817324

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

⁷³

#	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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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