Encephalopathy, Acute, Infection-Induced 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Infectious diseases Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴ ³⁵

Certain infectious and parasitic diseases

Viral infections of the central nervous system

Other viral encephalitis, not elsewhere classified

Other specified viral encephalitis

Unspecified viral encephalitis

Diseases of the nervous system

Other degenerative diseases of the nervous system

Other degenerative diseases of nervous system, not elsewhere classified

Other specified degenerative diseases of nervous system

Orphanet: ⁶⁰

Rare neurological diseases

Rare infectious diseases

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

SNOMED-CT via HPO ⁷⁰ 128613002 2032001 246545002 more

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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.

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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
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:

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

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

³³

#	Description	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

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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

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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

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Anatomical Context for Encephalopathy, Acute, Infection-Induced 4

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

⁴²

Brain, Spinal Cord, Heart

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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 )	Stevanovi? V...Te?ovi? G	2019
2	Acute necrotizing encephalopathy of childhood. ( 31085896 )	Sharma M...Negi P	2019
3	Teaching NeuroImages: Acute necrotizing encephalopathy of childhood: Neuroimaging findings. ( 29311376 )	Biswas A...Gibikote S	2018
4	Acute Necrotizing Encephalopathy of Childhood (ANEC): A Case Report. ( 28277560 )	Hassanzadeh Rad A...Aminzadeh V	2017
5	Acute Necrotizing Encephalopathy of Childhood Secondary to Dengue Infection: A Case Report from Pakistan. ( 28904577 )	Abbas Q...Jamil MT	2017
6	Influenza B-associated acute necrotizing encephalopathy of childhood: a report from North America. ( 26627900 )	Samanta D	2016
7	Acute necrotizing encephalopathy of childhood; a case report. ( 24665298 )	Salehiomran MR...Baghdadi F	2013
8	Acute necrotizing encephalopathy of childhood: a fatal complication of swine flu. ( 21333249 )	Khan MR...Anwarul Haque	2011
9	Carnitine palmitoyl transferase II polymorphism is associated with multiple syndromes of acute encephalopathy with various infectious diseases. ( 20934285 )	Shinohara M...Mizuguchi M	2011
10	Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants. ( 21697855 )	Mak CM...Chan AY	2011
11	Acute necrotizing encephalopathy of childhood with spinal cord involvement: a case report. ( 20823028 )	Weng WC...Lee WT	2010
12	Genetic basis for acute necrotizing encephalopathy of childhood. ( 19807769 )	Suri M	2010
13	Acute necrotizing encephalopathy of childhood: typical findings in an atypical disease. ( 18415059 )	Skelton BW...Castillo M	2008
14	Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy. ( 18306170 )	Yao D...Kido H	2008
15	Acute necrotizing encephalopathy of childhood: report of a Spanish case. ( 18021928 )	San Millan B...Navarro C	2007
16	Acute necrotizing encephalopathy of childhood in non-Asian patients: report of three cases and literature review. ( 17005104 )	Mastroyianni SD...Mizuguchi M	2006
17	Acute necrotizing encephalopathy of childhood: correlation of MR findings and clinical outcome. ( 17032866 )	Wong AM...Ng SH	2006
18	Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy. ( 15811315 )	Chen Y...Kido H	2005
19	Acute necrotizing encephalopathy of childhood associated with influenza type B virus infection in a 3-year-old girl. ( 15032389 )	Huang SM...Hsieh KS	2004
20	Must acute necrotizing encephalopathy of childhood and acute bilateral striatal necrosis be differentiated? ( 15087115 )	Wang HS	2004
21	Comparison of magnetic resonance imaging abnormalities in Japanese encephalitis and acute necrotizing encephalopathy of childhood. ( 15262755 )	Wang HS	2004
22	Acute necrotizing encephalopathy of childhood with radiographic progression over 10 hours. ( 12743257 )	Bassuk AG...McRae W	2003
23	Acute necrotizing encephalopathy of childhood. ( 11299971 )	Wang HS...Huang SC	2001
24	Brain MRI findings in influenza A-associated acute necrotizing encephalopathy of childhood. ( 11585108 )	Voudris KA...Zeis PM	2001
25	Acute necrotizing encephalopathy of childhood (infantile bilateral thalamic necrosis): two non-Japanese cases. ( 9881807 )	Campistol J...Fernandez-Alvarez E	1998
26	Acute necrotizing encephalopathy of childhood: a novel form of acute encephalopathy prevalent in Japan and Taiwan. ( 9105653 )	Mizuguchi M	1997

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Genes for Encephalopathy, Acute, Infection-Induced 4

Genes related to Encephalopathy, Acute, Infection-Induced 4 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CPT2	Carnitine Palmitoyltransferase 2	Protein Coding	1103.34	Molecular basis known ⁵⁸ Pathogenic ⁶ Genetic Tests ³⁰ Susceptibility factor ⁵⁸ Candidate gene tested ⁶⁰ GeneCards inferred via : Disorders Variants (show sections)	15811315 18306170 20934285 (more) 21697855
2	RANBP2	RAN Binding Protein 2	Protein Coding	25	Susceptibility factor ⁶⁰

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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

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Expression for Encephalopathy, Acute, Infection-Induced 4

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

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Pathways for Encephalopathy, Acute, Infection-Induced 4

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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

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²⁴ GeneHancer via GeneCards

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⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Encephalopathy, Acute, Infection-Induced 4 (IIAE4)

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

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

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Encephalopathy, Acute, Infection-Induced 4

Related Diseases for Encephalopathy, Acute, Infection-Induced 4

Diseases in the Encephalopathy, Acute, Infection-Induced 4 family:

Diseases related to Encephalopathy, Acute, Infection-Induced 4 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Drugs & Therapeutics 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:

Anatomical Context for Encephalopathy, Acute, Infection-Induced 4

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

Publications for Encephalopathy, Acute, Infection-Induced 4

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

Genes for Encephalopathy, Acute, Infection-Induced 4

Genes related to Encephalopathy, Acute, Infection-Induced 4 (2 elite genes):

Variations for Encephalopathy, Acute, Infection-Induced 4

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

Expression 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:

Sources for Encephalopathy, Acute, Infection-Induced 4