MCID: ENC036
MIFTS: 14

Encephalopathy, Acute, Infection-Induced, 4 malady

Category: Genetic diseases (common)

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

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Aliases & Descriptions for Encephalopathy, Acute, Infection-Induced, 4:

Name: Encephalopathy, Acute, Infection-Induced, 4 49 67
Encephalopathy Acute Infection-Induced 4 67 24
 
Encephalopathy, Acute, Infection-Induced, 4, Susceptibility to 11
Iiae4 67

Characteristics:

HPO:

61
encephalopathy, acute, infection-induced, 4:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 614212
MedGen34 C3280160
MeSH36 D018792

Summaries for Encephalopathy, Acute, Infection-Induced, 4

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OMIM:49 Acute encephalopathy is a severe neurologic complication of an infection that usually occurs in children. It is... (614212) more...

MalaCards based summary: Encephalopathy, Acute, Infection-Induced, 4, also known as encephalopathy acute infection-induced 4, is related to herpes simplex encephalitis 1, and has symptoms including seizures, coma and encephalopathy. An important gene associated with Encephalopathy, Acute, Infection-Induced, 4 is CPT2 (Carnitine Palmitoyltransferase 2). Affiliated tissues include brain.

UniProtKB/Swiss-Prot:67 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

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

idRelated DiseaseScoreTop Affiliating Genes
1herpes simplex encephalitis 110.0

Symptoms for Encephalopathy, Acute, Infection-Induced, 4

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Symptoms by clinical synopsis from OMIM:

614212

Clinical features from OMIM:

614212

HPO human phenotypes related to Encephalopathy, Acute, Infection-Induced, 4:

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

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

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Interventional clinical trials:

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

Genetic Tests for Encephalopathy, Acute, Infection-Induced, 4

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Anatomical Context for Encephalopathy, Acute, Infection-Induced, 4

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

33
Brain

Animal Models for Encephalopathy, Acute, Infection-Induced, 4 or affiliated genes

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Publications for Encephalopathy, Acute, Infection-Induced, 4

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Variations for Encephalopathy, Acute, Infection-Induced, 4

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1CPT2NM_000098.2(CPT2): c.1055T> G (p.Phe352Cys)single nucleotide variantrisk factorrs2229291GRCh37Chr 1, 53676401: 53676401
2CPT2NM_000098.2(CPT2): c.1055T> G (p.Phe352Cys)single nucleotide variantrisk factorrs2229291GRCh37Chr 1, 53676401: 53676401
3CPT2NM_000098.2(CPT2): c.1102G> A (p.Val368Ile)single nucleotide variantrisk factorrs1799821GRCh37Chr 1, 53676448: 53676448

Expression for genes affiliated with Encephalopathy, Acute, Infection-Induced, 4

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

Pathways for genes affiliated with Encephalopathy, Acute, Infection-Induced, 4

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GO Terms for genes affiliated with Encephalopathy, Acute, Infection-Induced, 4

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Sources for Encephalopathy, Acute, Infection-Induced, 4

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet