ANEC
MCID: ENC036
MIFTS: 20

Encephalopathy, Acute, Infection-Induced, 4 (ANEC) malady

Genetic diseases, Neuronal diseases, Infectious diseases, Rare diseases categories
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Summaries for Encephalopathy, Acute, Infection-Induced, 4

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MalaCards based summary: Encephalopathy, Acute, Infection-Induced, 4, also known as acute necrotizing encephalopathy of childhood, is related to achromatopsia, and has symptoms including An important gene associated with Encephalopathy, Acute, Infection-Induced, 4 is CPT2 (carnitine palmitoyltransferase 2), and among its related pathways is Metabolism. Affiliated tissues include brain.

Description from OMIM:46 614212

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

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Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet
See all sources

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

Name: Encephalopathy, Acute, Infection-Induced, 4 46
Acute Necrotizing Encephalopathy of Childhood 48
Isolated Acute Necrotizing Encephalopathy 48
 
Isolated Ane 48
Anec 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
acute necrotizing encephalopathy of childhood:
Inheritance: Sporadic; Age of onset: Childhood


External Ids:

OMIM46 614212
ICD10 via Orphanet26 G31.8

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

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

Encephalopathy, Acute, Infection-Induced 6

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

idRelated DiseaseScoreTop Affiliating Genes
1achromatopsia9.8

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

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

32
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:

6
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Encephalopathy, Acute, Infection-Induced, 4

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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Pathways related to Encephalopathy, Acute, Infection-Induced, 4 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1RANBP2, CPT2

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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Cellular components related to Encephalopathy, Acute, Infection-Induced, 4 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:0057399.1RANBP2, CPT2

Biological processes related to Encephalopathy, Acute, Infection-Induced, 4 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:0442819.1RANBP2, CPT2

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

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  • Antibodies
  • Proteins
  • Lysates

Sources for Encephalopathy, Acute, Infection-Induced, 4

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet