ANEC
MCID: ENC036
MIFTS: 21

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

Genetic diseases, Neuronal diseases, Infectious diseases, Rare diseases categories

Summaries for Encephalopathy, Acute, Infection-Induced, 4

About this section


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, also known as acute necrotizing encephalopathy of childhood, is related to achromatopsia, 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), and among its related pathways is Metabolism. Affiliated tissues include brain.

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

About this section
Sources:
46OMIM, 48Orphanet, 27ICD10 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 Orphanet27 G31.8

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

About this section

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

About this section

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

About this section

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

About this section

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

About this section

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

32
Brain

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

About this section

Publications for Encephalopathy, Acute, Infection-Induced, 4

About this section

Variations for Encephalopathy, Acute, Infection-Induced, 4

About this section

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

7
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

About this section
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

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Encephalopathy, Acute, Infection-Induced, 4

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet