IIAE6
MCID: ENC037
MIFTS: 16

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 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:



External Ids:

OMIM 57 614850
MedGen 42 C3553869
MeSH 44 D020803
SNOMED-CT via HPO 69 263681008 258211005 428638009

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

Related Diseases for Encephalopathy, Acute, Infection-Induced 6

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

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

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

Expression for Encephalopathy, Acute, Infection-Induced 6

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