MCID: ENC036
MIFTS: 19

Encephalopathy, Acute, Infection-Induced, 4 malady

Genetic diseases (common) category

Summaries for Encephalopathy, Acute, Infection-Induced, 4

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OMIM:47 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.

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

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

Name: Encephalopathy, Acute, Infection-Induced, 4 47
Encephalopathy, Acute, Infection-Induced, 4, Susceptibility to 11 24
 
Encephalopathy, Acute, Infection-Induced 4 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM47 614212

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 to24

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:

7
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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Products for genes affiliated with Encephalopathy, Acute, Infection-Induced, 4

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Encephalopathy, Acute, Infection-Induced, 4

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet