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

IIAE6 MCID: ENC037 MIFTS: 16	Encephalopathy, Acute, Infection-Induced 6 (IIAE6) Categories: Genetic diseases, Infectious diseases, Neuronal diseases, Rare diseases
Genes Variations 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 ⁷⁵

Iiae6 ⁵⁷ ⁷⁵

Encephalopathy, Acute, Infection-Induced , Susceptibility to, 6 ⁵⁷

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

Encephalopathy, Acute, Infection-Induced, Herpes-Specific, 6 ⁷⁵

Herpes Simplex Encephalitis, Susceptibility to, Type 4 ⁴⁰

Encephalopathy, Acute, Infection-Induced, 6 ⁷⁵

Hse4 ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive
autosomal dominant

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

HPO:

³²

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

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 614850

MedGen ⁴² C3553869

MeSH ⁴⁴ D020803

SNOMED-CT via HPO ⁶⁹ 263681008 258211005 428638009

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Summaries for Encephalopathy, Acute, Infection-Induced 6

UniProtKB/Swiss-Prot : ⁷⁵ 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.

Description from OMIM: 614850

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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

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

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

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

³²

#	Description	HPO Frequency	HPO Source Accession
1	herpes simplex encephalitis ³²		HP:0012302

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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

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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 ⁵⁷ Causative variation ⁷⁵ Genetic Tests ²⁹ Susceptibility factor ⁵⁷ Risk factor ⁶	22105173 26513235

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Variations for Encephalopathy, Acute, Infection-Induced 6

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

⁷⁵

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

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

⁶ (show top 50) (show all 80)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TICAM1	NM_182919.3(TICAM1): c.421C> T (p.Arg141Ter)	single nucleotide variant	risk factor	rs387907307	GRCh37	Chromosome 19, 4817969: 4817969
2	TICAM1	NM_182919.3(TICAM1): c.421C> T (p.Arg141Ter)	single nucleotide variant	risk factor	rs387907307	GRCh38	Chromosome 19, 4817957: 4817957
3	TICAM1	NM_182919.3(TICAM1): c.557C> T (p.Ser186Leu)	single nucleotide variant	Uncertain significance	rs146550489	GRCh37	Chromosome 19, 4817833: 4817833
4	TICAM1	NM_182919.3(TICAM1): c.557C> T (p.Ser186Leu)	single nucleotide variant	Uncertain significance	rs146550489	GRCh38	Chromosome 19, 4817821: 4817821
5	TICAM1	NM_182919.3(TICAM1): c.733G> A (p.Gly245Ser)	single nucleotide variant	Likely benign	rs151272128	GRCh38	Chromosome 19, 4817645: 4817645
6	TICAM1	NM_182919.3(TICAM1): c.733G> A (p.Gly245Ser)	single nucleotide variant	Likely benign	rs151272128	GRCh37	Chromosome 19, 4817657: 4817657
7	TICAM1	NM_182919.3(TICAM1): c.269C> A (p.Pro90Gln)	single nucleotide variant	Uncertain significance	rs141687483	GRCh38	Chromosome 19, 4818109: 4818109
8	TICAM1	NM_182919.3(TICAM1): c.269C> A (p.Pro90Gln)	single nucleotide variant	Uncertain significance	rs141687483	GRCh37	Chromosome 19, 4818121: 4818121
9	TICAM1	NM_182919.3(TICAM1): c.1702G> A (p.Ala568Thr)	single nucleotide variant	Likely benign	rs143679494	GRCh37	Chromosome 19, 4816688: 4816688
10	TICAM1	NM_182919.3(TICAM1): c.1702G> A (p.Ala568Thr)	single nucleotide variant	Likely benign	rs143679494	GRCh38	Chromosome 19, 4816676: 4816676
11	TICAM1	NM_182919.3(TICAM1): c.696C> T (p.Asp232=)	single nucleotide variant	Likely benign	rs574449966	GRCh38	Chromosome 19, 4817682: 4817682
12	TICAM1	NM_182919.3(TICAM1): c.696C> T (p.Asp232=)	single nucleotide variant	Likely benign	rs574449966	GRCh37	Chromosome 19, 4817694: 4817694
13	TICAM1	NM_182919.3(TICAM1): c.330C> T (p.Pro110=)	single nucleotide variant	Likely benign	rs373242041	GRCh38	Chromosome 19, 4818048: 4818048
14	TICAM1	NM_182919.3(TICAM1): c.330C> T (p.Pro110=)	single nucleotide variant	Likely benign	rs373242041	GRCh37	Chromosome 19, 4818060: 4818060
15	TICAM1	NM_182919.3(TICAM1): c.479C> T (p.Ser160Phe)	single nucleotide variant	Likely benign	rs145148929	GRCh38	Chromosome 19, 4817899: 4817899
16	TICAM1	NM_182919.3(TICAM1): c.479C> T (p.Ser160Phe)	single nucleotide variant	Likely benign	rs145148929	GRCh37	Chromosome 19, 4817911: 4817911
17	TICAM1	NM_182919.3(TICAM1): c.749C> T (p.Pro250Leu)	single nucleotide variant	risk factor		GRCh37	Chromosome 19, 4817641: 4817641
18	TICAM1	NM_182919.3(TICAM1): c.749C> T (p.Pro250Leu)	single nucleotide variant	risk factor		GRCh38	Chromosome 19, 4817629: 4817629
19	TICAM1	NM_182919.3(TICAM1): c.1763A> C (p.Gln588Pro)	single nucleotide variant	Benign	rs199784356	GRCh37	Chromosome 19, 4816627: 4816627
20	TICAM1	NM_182919.3(TICAM1): c.1763A> C (p.Gln588Pro)	single nucleotide variant	Benign	rs199784356	GRCh38	Chromosome 19, 4816615: 4816615
21	TICAM1	NM_182919.3(TICAM1): c.1669G> A (p.Asp557Asn)	single nucleotide variant	Uncertain significance	rs143066432	GRCh38	Chromosome 19, 4816709: 4816709
22	TICAM1	NM_182919.3(TICAM1): c.1669G> A (p.Asp557Asn)	single nucleotide variant	Uncertain significance	rs143066432	GRCh37	Chromosome 19, 4816721: 4816721
23	TICAM1	NM_182919.3(TICAM1): c.1388G> A (p.Arg463His)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 19, 4817002: 4817002
24	TICAM1	NM_182919.3(TICAM1): c.1388G> A (p.Arg463His)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 19, 4816990: 4816990
25	TICAM1	NM_182919.3(TICAM1): c.1803G> A (p.Ala601=)	single nucleotide variant	Benign	rs11466723	GRCh38	Chromosome 19, 4816575: 4816575
26	TICAM1	NM_182919.3(TICAM1): c.1803G> A (p.Ala601=)	single nucleotide variant	Benign	rs11466723	GRCh37	Chromosome 19, 4816587: 4816587
27	TICAM1	NM_182919.3(TICAM1): c.1264C> T (p.Pro422Ser)	single nucleotide variant	Uncertain significance	rs140568066	GRCh38	Chromosome 19, 4817114: 4817114
28	TICAM1	NM_182919.3(TICAM1): c.1264C> T (p.Pro422Ser)	single nucleotide variant	Uncertain significance	rs140568066	GRCh37	Chromosome 19, 4817126: 4817126
29	TICAM1	NM_182919.3(TICAM1): c.1260C> T (p.Gly420=)	single nucleotide variant	Likely benign	rs144531955	GRCh38	Chromosome 19, 4817118: 4817118
30	TICAM1	NM_182919.3(TICAM1): c.1260C> T (p.Gly420=)	single nucleotide variant	Likely benign	rs144531955	GRCh37	Chromosome 19, 4817130: 4817130
31	TICAM1	NM_182919.3(TICAM1): c.927A> G (p.Ala309=)	single nucleotide variant	Likely benign		GRCh38	Chromosome 19, 4817451: 4817451
32	TICAM1	NM_182919.3(TICAM1): c.927A> G (p.Ala309=)	single nucleotide variant	Likely benign		GRCh37	Chromosome 19, 4817463: 4817463
33	TICAM1	NM_182919.3(TICAM1): c.614G> A (p.Ser205Asn)	single nucleotide variant	Uncertain significance	rs754876060	GRCh38	Chromosome 19, 4817764: 4817764
34	TICAM1	NM_182919.3(TICAM1): c.614G> A (p.Ser205Asn)	single nucleotide variant	Uncertain significance	rs754876060	GRCh37	Chromosome 19, 4817776: 4817776
35	TICAM1	NM_182919.3(TICAM1): c.549C> T (p.Asp183=)	single nucleotide variant	Likely benign	rs759330259	GRCh38	Chromosome 19, 4817829: 4817829
36	TICAM1	NM_182919.3(TICAM1): c.549C> T (p.Asp183=)	single nucleotide variant	Likely benign	rs759330259	GRCh37	Chromosome 19, 4817841: 4817841
37	TICAM1	NM_182919.3(TICAM1): c.223C> T (p.Arg75Cys)	single nucleotide variant	Benign	rs11466719	GRCh38	Chromosome 19, 4818155: 4818155
38	TICAM1	NM_182919.3(TICAM1): c.223C> T (p.Arg75Cys)	single nucleotide variant	Benign	rs11466719	GRCh37	Chromosome 19, 4818167: 4818167
39	TICAM1	NM_182919.3(TICAM1): c.1556T> A (p.Ile519Asn)	single nucleotide variant	Uncertain significance	rs772590478	GRCh37	Chromosome 19, 4816834: 4816834
40	TICAM1	NM_182919.3(TICAM1): c.1556T> A (p.Ile519Asn)	single nucleotide variant	Uncertain significance	rs772590478	GRCh38	Chromosome 19, 4816822: 4816822
41	TICAM1	NM_182919.3(TICAM1): c.538C> T (p.Arg180Cys)	single nucleotide variant	Uncertain significance	rs141394423	GRCh37	Chromosome 19, 4817852: 4817852
42	TICAM1	NM_182919.3(TICAM1): c.538C> T (p.Arg180Cys)	single nucleotide variant	Uncertain significance	rs141394423	GRCh38	Chromosome 19, 4817840: 4817840
43	TICAM1	NM_182919.3(TICAM1): c.238G> A (p.Val80Met)	single nucleotide variant	Uncertain significance	rs199816697	GRCh37	Chromosome 19, 4818152: 4818152
44	TICAM1	NM_182919.3(TICAM1): c.238G> A (p.Val80Met)	single nucleotide variant	Uncertain significance	rs199816697	GRCh38	Chromosome 19, 4818140: 4818140
45	TICAM1	NM_182919.3(TICAM1): c.1755G> A (p.Glu585=)	single nucleotide variant	Likely benign		GRCh37	Chromosome 19, 4816635: 4816635
46	TICAM1	NM_182919.3(TICAM1): c.1755G> A (p.Glu585=)	single nucleotide variant	Likely benign		GRCh38	Chromosome 19, 4816623: 4816623
47	TICAM1	NM_182919.3(TICAM1): c.306G> A (p.Leu102=)	single nucleotide variant	Benign	rs11466720	GRCh38	Chromosome 19, 4818072: 4818072
48	TICAM1	NM_182919.3(TICAM1): c.306G> A (p.Leu102=)	single nucleotide variant	Benign	rs11466720	GRCh37	Chromosome 19, 4818084: 4818084
49	TICAM1	NM_182919.3(TICAM1): c.95C> T (p.Thr32Ile)	single nucleotide variant	Benign	rs79591246	GRCh38	Chromosome 19, 4818283: 4818283
50	TICAM1	NM_182919.3(TICAM1): c.95C> T (p.Thr32Ile)	single nucleotide variant	Benign	rs79591246	GRCh37	Chromosome 19, 4818295: 4818295

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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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

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

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

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

ClinVar 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