MCID: ENC036
MIFTS: 16

Encephalopathy, Acute, Infection-Induced, 4 malady

Genetic diseases (common) category

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 46
Encephalopathy, Acute, Infection-Induced, 4, Susceptibility to 9 22
 
Encephalopathy, Acute, Infection-Induced 4 46


Classifications:



External Ids:

OMIM46 614212

Summaries for Encephalopathy, Acute, Infection-Induced, 4

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OMIM:46 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, is also known as encephalopathy, acute, infection-induced, 4, susceptibility to, and has symptoms including autosomal dominant inheritance, autosomal recessive inheritance and seizures. An important gene associated with Encephalopathy, Acute, Infection-Induced, 4 is CPT2 (carnitine palmitoyltransferase 2). Affiliated tissues include brain.

Related Diseases for Encephalopathy, Acute, Infection-Induced, 4

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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 autosomal dominant inheritance HP:0000006
2 autosomal recessive inheritance HP:0000007
3 seizures HP:0001250
4 coma HP:0001259
5 cerebral edema HP:0002181

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

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Drug clinical trials:

Search ClinicalTrials for Encephalopathy, Acute, Infection-Induced, 4

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

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

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Genetic tests related to Encephalopathy, Acute, Infection-Induced, 4:

id Genetic test Affiliating Genes
1 Encephalopathy, Acute, Infection-Induced, 4, Susceptibility to22

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

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

31
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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet