IIAE6
MCID: ENC037
MIFTS: 21

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 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:



External Ids:

OMIM 56 614850
OMIM Phenotypic Series 56 PS610551
MeSH 43 D020803
MedGen 41 C3553869
SNOMED-CT via HPO 68 258211005 263681008 428638009

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

Related Diseases for Encephalopathy, Acute, Infection-Induced 6

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

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

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
26513235 2015
2
Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency. 6 56
22105173 2011
3
p53 activated by AND gate genetic circuit under radiation and hypoxia for targeted cancer gene therapy. 61
26177264 2015
4
Heat shock factor 1 counteracts epigenetic silencing of nuclear transgenes in Chlamydomonas reinhardtii. 61
23585280 2013

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

Expression for Encephalopathy, Acute, Infection-Induced 6

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Pathways for Encephalopathy, Acute, Infection-Induced 6

GO Terms for Encephalopathy, Acute, Infection-Induced 6

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