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

MCID: ENC037 MIFTS: 16	Encephalopathy, Acute, Infection-Induced 6 Categories: Genetic diseases, Infectious diseases, Neuronal diseases, Rare diseases
Genes Variations Symptoms & Phenotypes Download 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

Herpes Simplex Encephalitis, Susceptibility to, Type 4 ⁴⁰

Encephalopathy, Acute, Infection-Induced, 6 ⁷⁵

Hse4 ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant
autosomal recessive

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

HPO:

³²

encephalopathy, acute, infection-induced 6:
Inheritance autosomal dominant inheritance autosomal recessive 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 CN158548

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 Herpes simplex encephalitis 4: A rare complication of human herpesvirus 1 (HHV-1) infection, occurring in only a small minority of HHV-1 infected individuals. HSE 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	26513235 22105173

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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 all 48)

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

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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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