MCID: ENC056
MIFTS: 31

Encephalopathy, Acute, Infection-Induced 4

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 57
Encephalopathy, Acute, Infection-Induced, 4, Susceptibility to 57 29 13 6 40
Encephalopathy, Acute, Infection-Induced, 4 57 75
Iiae4 57 75
Encephalopathy, Acute, Infection-Induced, Susceptibility to, 4 57
Acute Necrotizing Encephalopathy of Childhood 59
Isolated Acute Necrotizing Encephalopathy 59
Encephalopathy Acute Infection-Induced 4 75
Encephalitis, Viral 44
Isolated Ane 59
Anec 59

Characteristics:

Orphanet epidemiological data:

59
acute necrotizing encephalopathy of childhood
Inheritance: Not applicable; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant
autosomal recessive

Miscellaneous:
usually affects children
increased frequency among japanese and chinese


HPO:

32
encephalopathy, acute, infection-induced 4:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614212
Orphanet 59 ORPHA263524
ICD10 via Orphanet 34 G31.8
MedGen 42 C3280160
MeSH 44 D018792
ICD10 33 A86 A85.8

Summaries for Encephalopathy, Acute, Infection-Induced 4

OMIM : 57 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 acth deficiency, isolated. An important gene associated with Encephalopathy, Acute, Infection-Induced 4 is CPT2 (Carnitine Palmitoyltransferase 2). Affiliated tissues include brain, and related phenotypes are seizures and coma

UniProtKB/Swiss-Prot : 75 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

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
encephalopathy, acute, sudden-onset during febrile illness
coma
seizures
brain edema

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

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

32
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 coma 32 HP:0001259
3 encephalopathy 32 HP:0001298
4 cerebral edema 32 HP:0002181

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

26
# 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 29 CPT2

Anatomical Context for Encephalopathy, Acute, Infection-Induced 4

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

41
Brain

Publications for Encephalopathy, Acute, Infection-Induced 4

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

# Title Authors Year
1
Teaching NeuroImages: Acute necrotizing encephalopathy of childhood: Neuroimaging findings. ( 29311376 )
2018
2
Acute Necrotizing Encephalopathy of Childhood (ANEC): A Case Report. ( 28277560 )
2017
3
Acute Necrotizing Encephalopathy of Childhood Secondary to Dengue Infection: A Case Report from Pakistan. ( 28904577 )
2017
4
Influenza B-associated acute necrotizing encephalopathy of childhood: a report from North America. ( 26627900 )
2016
5
Genetic basis for acute necrotizing encephalopathy of childhood. ( 19807769 )
2010
6
Acute necrotizing encephalopathy of childhood: typical findings in an atypical disease. ( 18415059 )
2008
7
Acute necrotizing encephalopathy of childhood. ( 11299971 )
2001
8
Brain MRI findings in influenza A-associated acute necrotizing encephalopathy of childhood. ( 11585108 )
2001

Variations for Encephalopathy, Acute, Infection-Induced 4

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

6
# 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

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

Sources for Encephalopathy, Acute, Infection-Induced 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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