IIAE1
MCID: ENC060
MIFTS: 25

Encephalopathy, Acute, Infection-Induced 1 (IIAE1)

Categories: Genetic diseases, Infectious diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Encephalopathy, Acute, Infection-Induced 1

MalaCards integrated aliases for Encephalopathy, Acute, Infection-Induced 1:

Name: Encephalopathy, Acute, Infection-Induced 1 57
Herpes Simplex Encephalitis 1 57 75 29 6
Herpes Simplex Encephalitis, Susceptibility to, 1 57 13
Iiae1 57 75
Encephalopathy, Acute, Infection-Induced , Susceptibility to, 1 57
Encephalopathy, Acute, Infection-Induced, Herpes-Specific, 1 75
Herpes Simplex Encephalitis, Susceptibility to, Type 1 40
Encephalopathy, Acute, Infection-Induced, 1 75
Infection-Induced Acute Encephalopathy 1 75
Encephalitis, Herpes Simplex 44
Hse1 75

Characteristics:

HPO:

32
encephalopathy, acute, infection-induced 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 610551
MedGen 42 C2750180
MeSH 44 D020803
SNOMED-CT via HPO 69 258211005 428638009

Summaries for Encephalopathy, Acute, Infection-Induced 1

OMIM : 57 Herpes simplex virus (HSV)-1 is most often associated with infection of the oral mucosa. Primary infection is most commonly asymptomatic, but it may lead to symptoms usually involving the mucosa and skin. Following replication at the infection site, HSV-1 enters the epithelial endings of sensory neurons and travels up the trigeminal cranial nerves to the trigeminal ganglia, where latent infection is established. Reactivation of HSV-1, usually in the form of herpes labialis (cold sores), may occur in 20 to 40% of the population. HSV-1 seroprevalence is high, with over 85% of adults between the ages of 20 and 40 years infected. HSV-1 rarely infects the central nervous system (CNS), resulting in herpes simplex encephalitis (HSE), with an incidence of 2 to 4 per 1,000,000 people per year. In HSE, HSV-1 invades and replicates in neurons and glial cells, where focal necrotizing infections occur, primarily affecting the temporal and subfrontal regions of the brain. Untreated, HSE is fatal in at least 70% of cases, although the mortality and morbidity have been drastically reduced with antiviral therapy. Approximately one-third of all HSE cases are due to primary infections, and 30% of all HSE cases occur in children under the age of 20 years. Among children, HSE peaks between 3 months and 3 years of age, coinciding with the time of primary infection. In a subset of children, HSE results from a series of monogenic primary immunodeficiencies that impair UNC93B1- and TLR3 (603029)-dependent production of IFNA (147660)/IFNB (147640) and IFNG (147570) in the CNS (summary by Sancho-Shimizu et al., 2007). (610551)

MalaCards based summary : Encephalopathy, Acute, Infection-Induced 1, also known as herpes simplex encephalitis 1, is related to herpes simplex encephalitis and encephalopathy, acute, infection-induced 2. An important gene associated with Encephalopathy, Acute, Infection-Induced 1 is UNC93B1 (Unc-93 Homolog B1, TLR Signaling Regulator). Affiliated tissues include skin and brain, and related phenotypes are susceptibility to herpesvirus and herpes simplex encephalitis

UniProtKB/Swiss-Prot : 75 Encephalopathy, acute, infection-induced, Herpes-specific, 1: 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.

Related Diseases for Encephalopathy, Acute, Infection-Induced 1

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

Diseases related to Encephalopathy, Acute, Infection-Induced 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 herpes simplex encephalitis 12.1
2 encephalopathy, acute, infection-induced 2 11.4
3 encephalopathy, acute, infection-induced 7 11.4
4 herpes simplex 11.0
5 encephalitis 10.9
6 meningoencephalitis 9.9
7 viral encephalitis 9.9

Graphical network of the top 20 diseases related to Encephalopathy, Acute, Infection-Induced 1:



Diseases related to Encephalopathy, Acute, Infection-Induced   1

Symptoms & Phenotypes for Encephalopathy, Acute, Infection-Induced 1

Clinical features from OMIM:

610551

Human phenotypes related to Encephalopathy, Acute, Infection-Induced 1:

32
# Description HPO Frequency HPO Source Accession
1 susceptibility to herpesvirus 32 HP:0005353
2 herpes simplex encephalitis 32 HP:0012302

Drugs & Therapeutics for Encephalopathy, Acute, Infection-Induced 1

Search Clinical Trials , NIH Clinical Center for Encephalopathy, Acute, Infection-Induced 1

Cochrane evidence based reviews: encephalitis, herpes simplex

Genetic Tests for Encephalopathy, Acute, Infection-Induced 1

Genetic tests related to Encephalopathy, Acute, Infection-Induced 1:

# Genetic test Affiliating Genes
1 Herpes Simplex Encephalitis 1 29 UNC93B1

Anatomical Context for Encephalopathy, Acute, Infection-Induced 1

MalaCards organs/tissues related to Encephalopathy, Acute, Infection-Induced 1:

41
Skin, Brain

Publications for Encephalopathy, Acute, Infection-Induced 1

Articles related to Encephalopathy, Acute, Infection-Induced 1:

# Title Authors Year
1
Diffusion MRI in Rasmussen's encephalitis, herpes simplex encephalitis, and bacterial meningoencephalitis. ( 12204237 )
2002

Variations for Encephalopathy, Acute, Infection-Induced 1

ClinVar genetic disease variations for Encephalopathy, Acute, Infection-Induced 1:

6 (show top 50) (show all 130)
# Gene Variation Type Significance SNP ID Assembly Location
1 UNC93B1 UNC93B1, 4-BP DEL, 1034CTTT deletion risk factor
2 UNC93B1 UNC93B1, 781G-A single nucleotide variant risk factor
3 TLR3 NM_003265.2(TLR3): c.1660C> T (p.Pro554Ser) single nucleotide variant Uncertain significance rs121434431 GRCh37 Chromosome 4, 187004500: 187004500
4 TLR3 NM_003265.2(TLR3): c.1660C> T (p.Pro554Ser) single nucleotide variant Uncertain significance rs121434431 GRCh38 Chromosome 4, 186083346: 186083346
5 UNC93B1 NM_030930.3(UNC93B1): c.393-10C> T single nucleotide variant Benign/Likely benign rs117183629 GRCh38 Chromosome 11, 67999690: 67999690
6 UNC93B1 NM_030930.3(UNC93B1): c.393-10C> T single nucleotide variant Benign/Likely benign rs117183629 GRCh37 Chromosome 11, 67767160: 67767160
7 TLR3 NM_003265.2(TLR3): c.2265A> G (p.Glu755=) single nucleotide variant Uncertain significance GRCh37 Chromosome 4, 187005105: 187005105
8 TLR3 NM_003265.2(TLR3): c.2265A> G (p.Glu755=) single nucleotide variant Uncertain significance GRCh38 Chromosome 4, 186083951: 186083951
9 TLR3 NM_003265.2(TLR3): c.2553C> T (p.Phe851=) single nucleotide variant Benign rs73873710 GRCh37 Chromosome 4, 187005865: 187005865
10 TLR3 NM_003265.2(TLR3): c.2553C> T (p.Phe851=) single nucleotide variant Benign rs73873710 GRCh38 Chromosome 4, 186084711: 186084711
11 TLR3 NM_003265.2(TLR3): c.34G> C (p.Gly12Arg) single nucleotide variant Likely benign rs199539539 GRCh37 Chromosome 4, 186997807: 186997807
12 TLR3 NM_003265.2(TLR3): c.34G> C (p.Gly12Arg) single nucleotide variant Likely benign rs199539539 GRCh38 Chromosome 4, 186076653: 186076653
13 TLR3 NM_003265.2(TLR3): c.1677G> A (p.Lys559=) single nucleotide variant Benign rs35617964 GRCh37 Chromosome 4, 187004517: 187004517
14 TLR3 NM_003265.2(TLR3): c.1677G> A (p.Lys559=) single nucleotide variant Benign rs35617964 GRCh38 Chromosome 4, 186083363: 186083363
15 TLR3 NM_003265.2(TLR3): c.1716C> T (p.Asn572=) single nucleotide variant Likely benign rs140712645 GRCh37 Chromosome 4, 187004556: 187004556
16 TLR3 NM_003265.2(TLR3): c.1716C> T (p.Asn572=) single nucleotide variant Likely benign rs140712645 GRCh38 Chromosome 4, 186083402: 186083402
17 TLR3 NM_003265.2(TLR3): c.919T> G (p.Tyr307Asp) single nucleotide variant Benign rs5743317 GRCh38 Chromosome 4, 186082605: 186082605
18 TLR3 NM_003265.2(TLR3): c.919T> G (p.Tyr307Asp) single nucleotide variant Benign rs5743317 GRCh37 Chromosome 4, 187003759: 187003759
19 TLR3 NM_003265.2(TLR3): c.1927C> A (p.Arg643Ser) single nucleotide variant Benign rs73025939 GRCh38 Chromosome 4, 186083613: 186083613
20 TLR3 NM_003265.2(TLR3): c.1927C> A (p.Arg643Ser) single nucleotide variant Benign rs73025939 GRCh37 Chromosome 4, 187004767: 187004767
21 TLR3 NM_003265.2(TLR3): c.2209T> A (p.Ser737Thr) single nucleotide variant Benign rs5743318 GRCh38 Chromosome 4, 186083895: 186083895
22 TLR3 NM_003265.2(TLR3): c.2209T> A (p.Ser737Thr) single nucleotide variant Benign rs5743318 GRCh37 Chromosome 4, 187005049: 187005049
23 TLR3 NM_003265.2(TLR3): c.727T> C (p.Leu243=) single nucleotide variant Benign rs75290011 GRCh37 Chromosome 4, 187003567: 187003567
24 TLR3 NM_003265.2(TLR3): c.727T> C (p.Leu243=) single nucleotide variant Benign rs75290011 GRCh38 Chromosome 4, 186082413: 186082413
25 TLR3 NM_003265.2(TLR3): c.1704C> T (p.Asn568=) single nucleotide variant Benign rs35111588 GRCh37 Chromosome 4, 187004544: 187004544
26 TLR3 NM_003265.2(TLR3): c.1704C> T (p.Asn568=) single nucleotide variant Benign rs35111588 GRCh38 Chromosome 4, 186083390: 186083390
27 UNC93B1 NM_030930.3(UNC93B1): c.1453G> A (p.Val485Met) single nucleotide variant Likely benign rs199824078 GRCh37 Chromosome 11, 67761176: 67761176
28 UNC93B1 NM_030930.3(UNC93B1): c.1453G> A (p.Val485Met) single nucleotide variant Likely benign rs199824078 GRCh38 Chromosome 11, 67993705: 67993705
29 UNC93B1 NM_030930.3(UNC93B1): c.1206G> C (p.Pro402=) single nucleotide variant Benign rs112284414 GRCh37 Chromosome 11, 67763239: 67763239
30 UNC93B1 NM_030930.3(UNC93B1): c.1206G> C (p.Pro402=) single nucleotide variant Benign rs112284414 GRCh38 Chromosome 11, 67995768: 67995768
31 UNC93B1 NM_030930.3(UNC93B1): c.642G> A (p.Ala214=) single nucleotide variant Likely benign rs201137048 GRCh38 Chromosome 11, 67999218: 67999218
32 UNC93B1 NM_030930.3(UNC93B1): c.642G> A (p.Ala214=) single nucleotide variant Likely benign rs201137048 GRCh37 Chromosome 11, 67766688: 67766688
33 UNC93B1 NM_030930.3(UNC93B1): c.409T> C (p.Trp137Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 67767134: 67767134
34 UNC93B1 NM_030930.3(UNC93B1): c.409T> C (p.Trp137Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 67999664: 67999664
35 UNC93B1 NM_030930.3(UNC93B1): c.1724_1725delCCinsAG (p.Pro575Gln) indel Benign GRCh37 Chromosome 11, 67759086: 67759087
36 UNC93B1 NM_030930.3(UNC93B1): c.1724_1725delCCinsAG (p.Pro575Gln) indel Benign GRCh38 Chromosome 11, 67991615: 67991616
37 UNC93B1 NM_030930.3(UNC93B1): c.1594C> A (p.Pro532Thr) single nucleotide variant Uncertain significance rs543443741 GRCh38 Chromosome 11, 67991746: 67991746
38 UNC93B1 NM_030930.3(UNC93B1): c.1594C> A (p.Pro532Thr) single nucleotide variant Uncertain significance rs543443741 GRCh37 Chromosome 11, 67759217: 67759217
39 UNC93B1 NM_030930.3(UNC93B1): c.626C> T (p.Pro209Leu) single nucleotide variant Likely benign rs144399212 GRCh38 Chromosome 11, 67999234: 67999234
40 UNC93B1 NM_030930.3(UNC93B1): c.626C> T (p.Pro209Leu) single nucleotide variant Likely benign rs144399212 GRCh37 Chromosome 11, 67766704: 67766704
41 UNC93B1 NM_030930.3(UNC93B1): c.1155C> T (p.Gly385=) single nucleotide variant Benign rs200930438 GRCh38 Chromosome 11, 67995819: 67995819
42 UNC93B1 NM_030930.3(UNC93B1): c.385C> A (p.Leu129Ile) single nucleotide variant Likely benign rs146593182 GRCh37 Chromosome 11, 67770499: 67770499
43 UNC93B1 NM_030930.3(UNC93B1): c.385C> A (p.Leu129Ile) single nucleotide variant Likely benign rs146593182 GRCh38 Chromosome 11, 68003029: 68003029
44 UNC93B1 NM_030930.3(UNC93B1): c.1768G> T (p.Gly590Trp) single nucleotide variant Benign rs2375182 GRCh38 Chromosome 11, 67991572: 67991572
45 UNC93B1 NM_030930.3(UNC93B1): c.1768G> T (p.Gly590Trp) single nucleotide variant Benign rs2375182 GRCh37 Chromosome 11, 67759043: 67759043
46 UNC93B1 NM_030930.3(UNC93B1): c.1163C> T (p.Ala388Val) single nucleotide variant Benign rs11543208 GRCh38 Chromosome 11, 67995811: 67995811
47 UNC93B1 NM_030930.3(UNC93B1): c.1163C> T (p.Ala388Val) single nucleotide variant Benign rs11543208 GRCh37 Chromosome 11, 67763282: 67763282
48 UNC93B1 NM_030930.3(UNC93B1): c.1155C> T (p.Gly385=) single nucleotide variant Benign rs200930438 GRCh37 Chromosome 11, 67763290: 67763290
49 UNC93B1 NM_030930.3(UNC93B1): c.183C> T (p.Leu61=) single nucleotide variant Likely benign GRCh37 Chromosome 11, 67771182: 67771182
50 UNC93B1 NM_030930.3(UNC93B1): c.183C> T (p.Leu61=) single nucleotide variant Likely benign GRCh38 Chromosome 11, 68003712: 68003712

Expression for Encephalopathy, Acute, Infection-Induced 1

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Pathways for Encephalopathy, Acute, Infection-Induced 1

GO Terms for Encephalopathy, Acute, Infection-Induced 1

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