IIAE4
MCID: ENC056
MIFTS: 35

Encephalopathy, Acute, Infection-Induced 4 (IIAE4)

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

Aliases & Classifications for Encephalopathy, Acute, Infection-Induced 4

MalaCards integrated aliases for Encephalopathy, Acute, Infection-Induced 4:

Name: Encephalopathy, Acute, Infection-Induced 4 58
Encephalopathy, Acute, Infection-Induced, 4, Susceptibility to 58 30 13 6 41
Encephalopathy, Acute, Infection-Induced, 4 58 76
Iiae4 58 76
Encephalopathy, Acute, Infection-Induced, Susceptibility to, 4 58
Acute Necrotizing Encephalopathy of Childhood 60
Isolated Acute Necrotizing Encephalopathy 60
Encephalopathy Acute Infection-Induced 4 76
Encephalitis, Viral 45
Isolated Ane 60
Anec 60

Characteristics:

Orphanet epidemiological data:

60
acute necrotizing encephalopathy of childhood
Inheritance: Not applicable; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
usually affects children
increased frequency among japanese and chinese


HPO:

33
encephalopathy, acute, infection-induced 4:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 614212
MeSH 45 D018792
ICD10 34 A85.8 A86
ICD10 via Orphanet 35 G31.8
Orphanet 60 ORPHA263524
MedGen 43 C3280160

Summaries for Encephalopathy, Acute, Infection-Induced 4

OMIM : 58 Acute encephalopathy is a severe neurologic complication of an infection that usually occurs in children. It is characterized by a high-grade fever accompanied within 12 to 48 hours by febrile convulsions, often leading to coma, multiple-organ failure, brain edema, and high morbidity and mortality. The infections are usually viral, particularly influenza, although other viruses and even mycoplasma have been found to cause the disorder (summary by Chen et al., 2005; Shinohara et al., 2011). For a discussion of genetic heterogeneity of susceptibility to acute infection-induced encephalopathy, see 610551. (614212)

MalaCards based summary : Encephalopathy, Acute, Infection-Induced 4, also known as encephalopathy, acute, infection-induced, 4, susceptibility to, is related to viral encephalitis and hyperchlorhidrosis, isolated. An important gene associated with Encephalopathy, Acute, Infection-Induced 4 is CPT2 (Carnitine Palmitoyltransferase 2). Affiliated tissues include brain, spinal cord and heart, and related phenotypes are seizures and fever

UniProtKB/Swiss-Prot : 76 Encephalopathy, acute, infection-induced, 4: A severe neurologic complication of an infection. It manifests within days in otherwise healthy children after common viral infections, without evidence of viral infection of the brain or inflammatory cell infiltration. In affected children, high-grade fever is accompanied within 12 to 48 hours by febrile convulsions, often leading to coma, multiple-organ failure, brain edema, and high morbidity and mortality. The infections are usually viral, particularly influenza, although other viruses and even mycoplasma have been found to cause the disorder.

Related Diseases for Encephalopathy, Acute, Infection-Induced 4

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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 viral encephalitis 11.9
2 hyperchlorhidrosis, isolated 10.7
3 acth deficiency, isolated 10.7
4 question mark ears, isolated 10.7
5 acute necrotizing encephalopathy 10.6
6 encephalopathy 10.6
7 influenza 10.2
8 st. louis encephalitis 10.1
9 viral meningitis 10.0
10 meningitis 10.0
11 meningitis and encephalitis 10.0
12 japanese encephalitis 9.9
13 encephalitis 9.9
14 sporadic infantile bilateral striatal necrosis 9.9
15 tick-borne encephalitis 9.8
16 myelitis 9.8
17 venezuelan equine encephalitis 9.8
18 transverse myelitis 9.8
19 acute transverse myelitis 9.8
20 atrial fibrillation 9.6
21 tetralogy of fallot 9.3
22 keratoconus posticus circumscriptus 9.3
23 malaria 9.3
24 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.3
25 hepatitis 9.3
26 hepatitis a 9.3
27 toxic shock syndrome 9.3
28 atrial heart septal defect 9.3
29 anthrax disease 9.3
30 candida glabrata 9.3
31 haemophilus influenzae 9.3
32 mycobacterium abscessus 9.3
33 age-related hearing loss 9.3

Graphical network of the top 20 diseases related to Encephalopathy, Acute, Infection-Induced 4:



Diseases related to Encephalopathy, Acute, Infection-Induced 4

Symptoms & Phenotypes for Encephalopathy, Acute, Infection-Induced 4

Human phenotypes related to Encephalopathy, Acute, Infection-Induced 4:

33
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 fever 33 HP:0001945
3 coma 33 HP:0001259
4 encephalopathy 33 HP:0001298
5 cerebral edema 33 HP:0002181

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
coma
brain edema
encephalopathy, acute, sudden-onset during febrile illness

Immunology:
precipitated by infection (influenza a, influenza b, mycoplasma, hhv6)

Metabolic Features:
febrile illness

Laboratory Abnormalities:
increased serum acylcarnitine during febrile crisis
serum acylcarnitine returns to borderline high or normal after resolution of fever

Clinical features from OMIM:

614212

GenomeRNAi Phenotypes related to Encephalopathy, Acute, Infection-Induced 4 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Moderately decreased NFAT1-GFP nuclear translocation GR00359-A 8.96 CPT2 RANBP2
2 Reduced mammosphere formation GR00396-S 8.62 CPT2 RANBP2

Drugs & Therapeutics for Encephalopathy, Acute, Infection-Induced 4

Search Clinical Trials , NIH Clinical Center for Encephalopathy, Acute, Infection-Induced 4

Cochrane evidence based reviews: encephalitis, viral

Genetic Tests for Encephalopathy, Acute, Infection-Induced 4

Genetic tests related to Encephalopathy, Acute, Infection-Induced 4:

# Genetic test Affiliating Genes
1 Encephalopathy, Acute, Infection-Induced, 4, Susceptibility to 30 CPT2

Anatomical Context for Encephalopathy, Acute, Infection-Induced 4

MalaCards organs/tissues related to Encephalopathy, Acute, Infection-Induced 4:

42
Brain, Spinal Cord, Heart

Publications for Encephalopathy, Acute, Infection-Induced 4

Articles related to Encephalopathy, Acute, Infection-Induced 4:

(show all 26)
# Title Authors Year
1
Acute necrotizing encephalopathy of childhood associated with human herpes virus 6 in Croatia. ( 30374582 )
2019
2
Acute necrotizing encephalopathy of childhood. ( 31085896 )
2019
3
Teaching NeuroImages: Acute necrotizing encephalopathy of childhood: Neuroimaging findings. ( 29311376 )
2018
4
Acute Necrotizing Encephalopathy of Childhood (ANEC): A Case Report. ( 28277560 )
2017
5
Acute Necrotizing Encephalopathy of Childhood Secondary to Dengue Infection: A Case Report from Pakistan. ( 28904577 )
2017
6
Influenza B-associated acute necrotizing encephalopathy of childhood: a report from North America. ( 26627900 )
2016
7
Acute necrotizing encephalopathy of childhood; a case report. ( 24665298 )
2013
8
Acute necrotizing encephalopathy of childhood: a fatal complication of swine flu. ( 21333249 )
2011
9
Carnitine palmitoyl transferase II polymorphism is associated with multiple syndromes of acute encephalopathy with various infectious diseases. ( 20934285 )
2011
10
Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants. ( 21697855 )
2011
11
Acute necrotizing encephalopathy of childhood with spinal cord involvement: a case report. ( 20823028 )
2010
12
Genetic basis for acute necrotizing encephalopathy of childhood. ( 19807769 )
2010
13
Acute necrotizing encephalopathy of childhood: typical findings in an atypical disease. ( 18415059 )
2008
14
Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy. ( 18306170 )
2008
15
Acute necrotizing encephalopathy of childhood: report of a Spanish case. ( 18021928 )
2007
16
Acute necrotizing encephalopathy of childhood in non-Asian patients: report of three cases and literature review. ( 17005104 )
2006
17
Acute necrotizing encephalopathy of childhood: correlation of MR findings and clinical outcome. ( 17032866 )
2006
18
Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy. ( 15811315 )
2005
19
Acute necrotizing encephalopathy of childhood associated with influenza type B virus infection in a 3-year-old girl. ( 15032389 )
2004
20
Must acute necrotizing encephalopathy of childhood and acute bilateral striatal necrosis be differentiated? ( 15087115 )
2004
21
Comparison of magnetic resonance imaging abnormalities in Japanese encephalitis and acute necrotizing encephalopathy of childhood. ( 15262755 )
2004
22
Acute necrotizing encephalopathy of childhood with radiographic progression over 10 hours. ( 12743257 )
2003
23
Acute necrotizing encephalopathy of childhood. ( 11299971 )
2001
24
Brain MRI findings in influenza A-associated acute necrotizing encephalopathy of childhood. ( 11585108 )
2001
25
Acute necrotizing encephalopathy of childhood (infantile bilateral thalamic necrosis): two non-Japanese cases. ( 9881807 )
1998
26
Acute necrotizing encephalopathy of childhood: a novel form of acute encephalopathy prevalent in Japan and Taiwan. ( 9105653 )
1997

Variations for Encephalopathy, Acute, Infection-Induced 4

ClinVar genetic disease variations for Encephalopathy, Acute, Infection-Induced 4:

6 (show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 CPT2 NM_000098.2(CPT2): c.338C> T (p.Ser113Leu) single nucleotide variant Pathogenic rs74315294 GRCh37 Chromosome 1, 53668099: 53668099
2 CPT2 NM_000098.2(CPT2): c.338C> T (p.Ser113Leu) single nucleotide variant Pathogenic rs74315294 GRCh38 Chromosome 1, 53202427: 53202427
3 CPT2 NM_000098.2(CPT2): c.149C> A (p.Pro50His) single nucleotide variant Pathogenic rs28936375 GRCh37 Chromosome 1, 53662764: 53662764
4 CPT2 NM_000098.2(CPT2): c.149C> A (p.Pro50His) single nucleotide variant Pathogenic rs28936375 GRCh38 Chromosome 1, 53197092: 53197092
5 CPT2 NM_000098.2(CPT2): c.1148T> A (p.Phe383Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs74315295 GRCh37 Chromosome 1, 53676494: 53676494
6 CPT2 NM_000098.2(CPT2): c.1148T> A (p.Phe383Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs74315295 GRCh38 Chromosome 1, 53210822: 53210822
7 CPT2 NM_000098.2(CPT2): c.359A> G (p.Tyr120Cys) single nucleotide variant Likely pathogenic rs121918528 GRCh37 Chromosome 1, 53675705: 53675705
8 CPT2 NM_000098.2(CPT2): c.359A> G (p.Tyr120Cys) single nucleotide variant Likely pathogenic rs121918528 GRCh38 Chromosome 1, 53210033: 53210033
9 CPT2 NM_000098.2(CPT2): c.1055T> G (p.Phe352Cys) single nucleotide variant Benign/Likely benign rs2229291 GRCh37 Chromosome 1, 53676401: 53676401
10 CPT2 NM_000098.2(CPT2): c.1055T> G (p.Phe352Cys) single nucleotide variant Benign/Likely benign rs2229291 GRCh38 Chromosome 1, 53210729: 53210729
11 CPT2 NM_000098.2(CPT2): c.1102G> A (p.Val368Ile) single nucleotide variant Benign rs1799821 GRCh37 Chromosome 1, 53676448: 53676448
12 CPT2 NM_000098.2(CPT2): c.1102G> A (p.Val368Ile) single nucleotide variant Benign rs1799821 GRCh38 Chromosome 1, 53210776: 53210776
13 CPT2 NM_000098.2(CPT2): c.1369A> T (p.Lys457Ter) single nucleotide variant Pathogenic/Likely pathogenic rs756931329 GRCh38 Chromosome 1, 53211043: 53211043
14 CPT2 NM_000098.2(CPT2): c.1369A> T (p.Lys457Ter) single nucleotide variant Pathogenic/Likely pathogenic rs756931329 GRCh37 Chromosome 1, 53676715: 53676715
15 CPT2 NM_000098.2(CPT2): c.1414C> T (p.Gln472Ter) single nucleotide variant Likely pathogenic rs754386565 GRCh37 Chromosome 1, 53676760: 53676760
16 CPT2 NM_000098.2(CPT2): c.1414C> T (p.Gln472Ter) single nucleotide variant Likely pathogenic rs754386565 GRCh38 Chromosome 1, 53211088: 53211088
17 CPT2 NM_000098.2(CPT2): c.1025T> C (p.Met342Thr) single nucleotide variant Uncertain significance rs144658100 GRCh37 Chromosome 1, 53676371: 53676371
18 CPT2 NM_000098.2(CPT2): c.1025T> C (p.Met342Thr) single nucleotide variant Uncertain significance rs144658100 GRCh38 Chromosome 1, 53210699: 53210699
19 CPT2 NM_000098.2(CPT2): c.1438G> A (p.Gly480Arg) single nucleotide variant Uncertain significance rs201508063 GRCh38 Chromosome 1, 53211112: 53211112
20 CPT2 NM_000098.2(CPT2): c.1438G> A (p.Gly480Arg) single nucleotide variant Uncertain significance rs201508063 GRCh37 Chromosome 1, 53676784: 53676784
21 CPT2 NM_000098.2(CPT2): c.1679G> A (p.Arg560Gln) single nucleotide variant Uncertain significance rs199996641 GRCh37 Chromosome 1, 53678969: 53678969
22 CPT2 NM_000098.2(CPT2): c.1679G> A (p.Arg560Gln) single nucleotide variant Uncertain significance rs199996641 GRCh38 Chromosome 1, 53213297: 53213297
23 CPT2 NM_000098.2(CPT2): c.500G> A (p.Arg167Gln) single nucleotide variant Uncertain significance rs144760921 GRCh38 Chromosome 1, 53210174: 53210174
24 CPT2 NM_000098.2(CPT2): c.500G> A (p.Arg167Gln) single nucleotide variant Uncertain significance rs144760921 GRCh37 Chromosome 1, 53675846: 53675846
25 CPT2 NM_000098.2(CPT2): c.1448T> C (p.Val483Ala) single nucleotide variant Uncertain significance rs1324631593 GRCh37 Chromosome 1, 53676794: 53676794
26 CPT2 NM_000098.2(CPT2): c.1448T> C (p.Val483Ala) single nucleotide variant Uncertain significance rs1324631593 GRCh38 Chromosome 1, 53211122: 53211122
27 CPT2 NM_000098.2(CPT2): c.1477G> A (p.Ala493Thr) single nucleotide variant Uncertain significance rs61731996 GRCh37 Chromosome 1, 53676823: 53676823
28 CPT2 NM_000098.2(CPT2): c.1477G> A (p.Ala493Thr) single nucleotide variant Uncertain significance rs61731996 GRCh38 Chromosome 1, 53211151: 53211151

Expression for Encephalopathy, Acute, Infection-Induced 4

Search GEO for disease gene expression data for Encephalopathy, Acute, Infection-Induced 4.

Pathways for Encephalopathy, Acute, Infection-Induced 4

GO Terms for Encephalopathy, Acute, Infection-Induced 4

Cellular components related to Encephalopathy, Acute, Infection-Induced 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.62 CPT2 RANBP2

Sources for Encephalopathy, Acute, Infection-Induced 4

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63 PubMed
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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