IIAE4
MCID: ENC056
MIFTS: 36

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 56
Encephalopathy, Acute, Infection-Induced, 4, Susceptibility to 56 29 13 6 39
Encephalopathy, Acute, Infection-Induced, 4 56 73
Iiae4 56 73
Encephalopathy, Acute, Infection-Induced, Susceptibility to, 4 56
Acute Necrotizing Encephalopathy of Childhood 58
Isolated Acute Necrotizing Encephalopathy 58
Encephalopathy Acute Infection-Induced 4 73
Encephalitis, Viral 43
Isolated Ane 58
Anec 58

Characteristics:

Orphanet epidemiological data:

58
acute necrotizing encephalopathy of childhood
Inheritance: Not applicable; Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
usually affects children
increased frequency among japanese and chinese


HPO:

31
encephalopathy, acute, infection-induced 4:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare infectious diseases


External Ids:

OMIM 56 614212
OMIM Phenotypic Series 56 PS610551
MeSH 43 D018792
ICD10 via Orphanet 33 G31.8
Orphanet 58 ORPHA263524
MedGen 41 C3280160

Summaries for Encephalopathy, Acute, Infection-Induced 4

OMIM : 56 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 encephalopathy and viral encephalitis. An important gene associated with Encephalopathy, Acute, Infection-Induced 4 is CPT2 (Carnitine Palmitoyltransferase 2). The drugs Prednisolone phosphate and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotypes are fever and encephalopathy

UniProtKB/Swiss-Prot : 73 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
Encephalopathy, Acute, Infection-Induced 9

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

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 encephalopathy 30.1 RANBP2 CPT2
2 viral encephalitis 12.0
3 cryptophthalmos, unilateral or bilateral, isolated 10.8
4 hyperchlorhidrosis, isolated 10.8
5 acth deficiency, isolated 10.8
6 question mark ears, isolated 10.8
7 tick-borne encephalitis 10.2
8 st. louis encephalitis 10.2
9 herpes simplex 10.2
10 ocular motor apraxia 10.1
11 reye syndrome 10.1
12 viral meningitis 10.1
13 meningitis and encephalitis 10.1
14 meningitis 10.0
15 sandhoff disease 10.0
16 japanese encephalitis 10.0
17 visual epilepsy 10.0
18 dengue hemorrhagic fever 10.0
19 encephalomalacia 10.0
20 focal epilepsy 10.0
21 basal ganglia disease 10.0
22 influenza 10.0
23 encephalitis 10.0
24 seizure disorder 10.0
25 sporadic infantile bilateral striatal necrosis 10.0
26 la crosse encephalitis 9.9
27 western equine encephalitis 9.9
28 myelitis 9.9
29 cardiac arrhythmia 9.8
30 triiodothyronine receptor auxiliary protein 9.8
31 west nile virus 9.8
32 common cold 9.8
33 eastern equine encephalitis 9.8
34 rabies 9.8
35 lymphocytic choriomeningitis 9.8
36 epilepsy 9.8
37 progressive multifocal leukoencephalopathy 9.8
38 neuroblastoma 9.8
39 measles 9.8
40 venezuelan equine encephalitis 9.8
41 herpes simplex encephalitis 9.8
42 limbic encephalitis 9.8
43 transverse myelitis 9.8
44 headache 9.8
45 paraneoplastic limbic encephalitis 9.8
46 acute transverse myelitis 9.8
47 infectious encephalitis 9.8
48 cystic fibrosis 9.5
49 fibrosis of extraocular muscles, congenital, 1 9.3
50 immune deficiency disease 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:

31
# Description HPO Frequency HPO Source Accession
1 fever 31 HP:0001945
2 encephalopathy 31 HP:0001298
3 coma 31 HP:0001259
4 cerebral edema 31 HP:0002181
5 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 8.96 CPT2 RANBP2
2 Weakly decreased NFAT1-GFP nuclear translocation GR00359-A 8.32 RANBP2

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

Drugs for Encephalopathy, Acute, Infection-Induced 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
2
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
3
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
4
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
5
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
6
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
7 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
8
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
9 Methylprednisolone Acetate Phase 4
10 Hormones Phase 4
11 Antineoplastic Agents, Hormonal Phase 4
12 Hormone Antagonists Phase 4
13 Neuroprotective Agents Phase 4
14 Antiemetics Phase 4
15 Gastrointestinal Agents Phase 4
16 glucocorticoids Phase 4
17 Anti-Inflammatory Agents Phase 4
18 Protective Agents Phase 4
19 Orange Approved Phase 3
20 Vaccines Phase 3
21 Immunologic Factors Phase 3
22
Aluminum hydroxide Approved, Investigational Phase 1 21645-51-2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Low Dose Versus High Dose Steroids in Treatment of Viral Encephalitis Not yet recruiting NCT04103684 Phase 4 Methylprednisolone;Dexamethasone
2 Long-Term Assessment at 24 Months Post-Vaccination of the Non-Inferiority of the Concurrent Administration of Japanese Encephalitis Live Attenuated SA 14-14-2 Vaccine and Measles Vaccine to Measles Vaccine Given Alone Completed NCT00412516 Phase 3
3 Assessment of the Non-Inferiority of the Concurrent Administration of Japanese Encephalitis Live Attenuated SA 14-14-2 Vaccine and Measles Vaccine Given Alone Completed NCT00249769 Phase 3
4 Phase II Study Assessing the Effect of BK Specific CTL Lines Generated by Ex Vivo Expansion in Patients With BK Virus Infection and JC Virus Infection Recruiting NCT02479698 Phase 2
5 A Phase 2 Open-Label, Safety and Immunogenicity Study of Venezuelan Equine Encephalomyelitis Vaccine, Inactivated, Dried, C-84, TSI-GSD 205 When Used as a Booster After TC-83 Primary Immunization in Healthy Adults At-Risk for Exposure to Virulent Venezuelan Equine Encephalomyelitis Virus Active, not recruiting NCT00582088 Phase 2
6 A Phase 1 Dose Escalation Study to Assess the Safety and Immunogenicity of a Monovalent Virus-Like Particle (VLP) Venezuelan Equine Encephalitis Vaccine in Healthy Adults Active, not recruiting NCT03776994 Phase 1
7 Singapore Neurologic Infections Program Unknown status NCT02017665

Search 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:

40
Brain

Publications for Encephalopathy, Acute, Infection-Induced 4

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

# Title Authors PMID Year
1
Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants. 6 56
21697855 2011
2
Carnitine palmitoyl transferase II polymorphism is associated with multiple syndromes of acute encephalopathy with various infectious diseases. 56 6
20934285 2011
3
Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy. 56 6
15811315 2005
4
Thermolabile CPT II variants and low blood ATP levels are closely related to severity of acute encephalopathy in Japanese children. 56
21277129 2012
5
Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy. 6
18306170 2008
6
Familial Acute Necrotizing Encephalopathy: Evidence From Next Generation Sequencing of Digenic Inheritance. 61
32102593 2020

Variations for Encephalopathy, Acute, Infection-Induced 4

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

6 (show all 14) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CPT2 NM_000098.3(CPT2):c.149C>A (p.Pro50His)SNV Pathogenic 8954 rs28936375 1:53662764-53662764 1:53197092-53197092
2 CPT2 NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr)SNV Pathogenic/Likely pathogenic 8958 rs74315295 1:53676494-53676494 1:53210822-53210822
3 CPT2 NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter)SNV Pathogenic/Likely pathogenic 188753 rs756931329 1:53676715-53676715 1:53211043-53211043
4 CPT2 NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter)SNV Likely pathogenic 371750 rs754386565 1:53676760-53676760 1:53211088-53211088
5 CPT2 NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys)SNV Likely pathogenic 8968 rs121918528 1:53675705-53675705 1:53210033-53210033
6 CPT2 NM_000098.3(CPT2):c.1025T>C (p.Met342Thr)SNV Conflicting interpretations of pathogenicity 376799 rs144658100 1:53676371-53676371 1:53210699-53210699
7 CPT2 NM_000098.3(CPT2):c.1477G>A (p.Ala493Thr)SNV Conflicting interpretations of pathogenicity 529864 rs61731996 1:53676823-53676823 1:53211151-53211151
8 CPT2 NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)SNV Conflicting interpretations of pathogenicity 8953 rs74315294 1:53668099-53668099 1:53202427-53202427
9 CPT2 NM_000098.3(CPT2):c.1438G>A (p.Gly480Arg)SNV Uncertain significance 447218 rs201508063 1:53676784-53676784 1:53211112-53211112
10 CPT2 NM_000098.3(CPT2):c.1679G>A (p.Arg560Gln)SNV Uncertain significance 460426 rs199996641 1:53678969-53678969 1:53213297-53213297
11 CPT2 NM_000098.3(CPT2):c.500G>A (p.Arg167Gln)SNV Uncertain significance 529857 rs144760921 1:53675846-53675846 1:53210174-53210174
12 CPT2 NM_000098.3(CPT2):c.1448T>C (p.Val483Ala)SNV Uncertain significance 529861 rs1324631593 1:53676794-53676794 1:53211122-53211122
13 CPT2 NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys)SNV Benign/Likely benign 92428 rs2229291 1:53676401-53676401 1:53210729-53210729
14 CPT2 NM_000098.3(CPT2):c.1102G>A (p.Val368Ile)SNV Benign 92429 rs1799821 1:53676448-53676448 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

Sources for Encephalopathy, Acute, Infection-Induced 4

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57 OMIM via Orphanet
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63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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