MCID: ENC021
MIFTS: 10

Encephalopathy, Neonatal Severe malady

Neuronal category

Summaries for Encephalopathy, Neonatal Severe

Sources:
47OMIM, 33MalaCards
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:47 300673

Aliases & Classifications for Encephalopathy, Neonatal Severe

Sources:
47OMIM, 49Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 47
severe neonatal-onset encephalopathy with microcephaly 49
severe congenital encephalopathy due to mecp2 mutation 49


External Ids:

OMIM47 300673

Related Diseases for Encephalopathy, Neonatal Severe

Sources:
17GeneCards, 18GeneDecks
See all sources

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

Sources:
47OMIM
See all sources

Clinical features from OMIM:

300673

Clinical synopsis from OMIM:

300673

Drugs & Therapeutics for Encephalopathy, Neonatal Severe

Sources:
5CenterWatch, 42NIH 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

Anatomical Context for Encephalopathy, Neonatal Severe

Animal Models for Encephalopathy, Neonatal Severe or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Encephalopathy, Neonatal Severe

Sources:
51PubMed
See all sources

Articles related to Encephalopathy, Neonatal Severe:

idTitleAuthorsYear
1
MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings. (11930274)
2002

Genetic Variations for Encephalopathy, Neonatal Severe

Expression for genes affiliated with Encephalopathy, Neonatal Severe

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

Compounds for genes affiliated with Encephalopathy, Neonatal Severe

GO Terms for genes affiliated with Encephalopathy, Neonatal Severe

Products for genes affiliated with Encephalopathy, Neonatal Severe

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Encephalopathy, Neonatal Severe

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet