IIAE4
MCID: ENC056
MIFTS: 38

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 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 recessive
autosomal dominant

Miscellaneous:
usually affects children
increased frequency among japanese and chinese


HPO:

32
encephalopathy, acute, infection-induced 4:
Inheritance autosomal recessive inheritance autosomal dominant 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 spinal cord, and related phenotypes are seizures and fever

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:
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

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

32
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 fever 32 HP:0001945
3 coma 32 HP:0001259
4 cerebral edema 32 HP:0002181
5 encephalopathy 32 HP:0001298

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, Spinal Cord

Publications for Encephalopathy, Acute, Infection-Induced 4

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

(show all 21)
# Title Authors Year
1
Teaching NeuroImages: Acute necrotizing encephalopathy of childhood: Neuroimaging findings. ( 29311376 )
2018
2
Acute necrotizing encephalopathy of childhood associated with human herpes virus 6 in Croatia. ( 30374582 )
2018
3
Acute Necrotizing Encephalopathy of Childhood (ANEC): A Case Report. ( 28277560 )
2017
4
Acute Necrotizing Encephalopathy of Childhood Secondary to Dengue Infection: A Case Report from Pakistan. ( 28904577 )
2017
5
Influenza B-associated acute necrotizing encephalopathy of childhood: a report from North America. ( 26627900 )
2016
6
Acute necrotizing encephalopathy of childhood; a case report. ( 24665298 )
2013
7
Acute necrotizing encephalopathy of childhood: a fatal complication of swine flu. ( 21333249 )
2011
8
Genetic basis for acute necrotizing encephalopathy of childhood. ( 19807769 )
2010
9
Acute necrotizing encephalopathy of childhood with spinal cord involvement: a case report. ( 20823028 )
2010
10
Acute necrotizing encephalopathy of childhood: typical findings in an atypical disease. ( 18415059 )
2008
11
Acute necrotizing encephalopathy of childhood: report of a Spanish case. ( 18021928 )
2007
12
Acute necrotizing encephalopathy of childhood in non-Asian patients: report of three cases and literature review. ( 17005104 )
2006
13
Acute necrotizing encephalopathy of childhood: correlation of MR findings and clinical outcome. ( 17032866 )
2006
14
Acute necrotizing encephalopathy of childhood associated with influenza type B virus infection in a 3-year-old girl. ( 15032389 )
2004
15
Must acute necrotizing encephalopathy of childhood and acute bilateral striatal necrosis be differentiated? ( 15087115 )
2004
16
Comparison of magnetic resonance imaging abnormalities in Japanese encephalitis and acute necrotizing encephalopathy of childhood. ( 15262755 )
2004
17
Acute necrotizing encephalopathy of childhood with radiographic progression over 10 hours. ( 12743257 )
2003
18
Acute necrotizing encephalopathy of childhood. ( 11299971 )
2001
19
Brain MRI findings in influenza A-associated acute necrotizing encephalopathy of childhood. ( 11585108 )
2001
20
Acute necrotizing encephalopathy of childhood (infantile bilateral thalamic necrosis): two non-Japanese cases. ( 9881807 )
1998
21
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
# 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.1055T> G (p.Phe352Cys) single nucleotide variant Benign/Likely benign rs2229291 GRCh37 Chromosome 1, 53676401: 53676401
4 CPT2 NM_000098.2(CPT2): c.1055T> G (p.Phe352Cys) single nucleotide variant Benign/Likely benign rs2229291 GRCh38 Chromosome 1, 53210729: 53210729
5 CPT2 NM_000098.2(CPT2): c.1102G> A (p.Val368Ile) single nucleotide variant Benign rs1799821 GRCh37 Chromosome 1, 53676448: 53676448
6 CPT2 NM_000098.2(CPT2): c.1102G> A (p.Val368Ile) single nucleotide variant Benign rs1799821 GRCh38 Chromosome 1, 53210776: 53210776

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

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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