MCID: ENC021
MIFTS: 13

Encephalopathy, Neonatal Severe malady

Neuronal diseases category

Summaries for Encephalopathy, Neonatal Severe

About this section
Sources:
46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Encephalopathy, Neonatal Severe, also known as severe neonatal-onset encephalopathy with microcephaly, is related to mental retardation. An important gene associated with Encephalopathy, Neonatal Severe is MECP2 (methyl CpG binding protein 2 (Rett syndrome)).

Description from OMIM:46 300673

Aliases & Classifications for Encephalopathy, Neonatal Severe

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
severe neonatal-onset encephalopathy with microcephaly:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

encephalopathy, neonatal severe 46
severe neonatal-onset encephalopathy with microcephaly 48
severe congenital encephalopathy due to mecp2 mutation 48


External Ids:

OMIM46 300673

Related Diseases for Encephalopathy, Neonatal Severe

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Encephalopathy, Neonatal Severe family:

Mecp2-Related Severe Neonatal Encephalopathy

Diseases related to Encephalopathy, Neonatal Severe via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1mental retardation10.0MECP2

Clinical Features for Encephalopathy, Neonatal Severe

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

300673

Clinical synopsis from OMIM:

300673

Drugs & Therapeutics for Encephalopathy, Neonatal Severe

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Encephalopathy, Neonatal Severe

Drug clinical trials:

Search ClinicalTrials for Encephalopathy, Neonatal Severe

Search NIH Clinical Center for Encephalopathy, Neonatal Severe

Search CenterWatch for Encephalopathy, Neonatal Severe

Genetic Tests for Encephalopathy, Neonatal Severe

About this section

Anatomical Context for Encephalopathy, Neonatal Severe

About this section

Animal Models for Encephalopathy, Neonatal Severe or affiliated genes

About this section

Publications for Encephalopathy, Neonatal Severe

About this section

Genetic Variations for Encephalopathy, Neonatal Severe

About this section

Expression for genes affiliated with Encephalopathy, Neonatal Severe

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Encephalopathy, Neonatal Severe

Search GEO for disease gene expression data for Encephalopathy, Neonatal Severe.

Pathways for genes affiliated with Encephalopathy, Neonatal Severe

About this section

Compounds for genes affiliated with Encephalopathy, Neonatal Severe

About this section

GO Terms for genes affiliated with Encephalopathy, Neonatal Severe

About this section

Products for genes affiliated with Encephalopathy, Neonatal Severe

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Encephalopathy, Neonatal Severe

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet