MCID: ENC021
MIFTS: 16

Encephalopathy, Neonatal Severe malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Summaries for Encephalopathy, Neonatal Severe

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48OMIM, 34MalaCards
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MalaCards: Encephalopathy, Neonatal Severe, also known as severe neonatal-onset encephalopathy with microcephaly, is related to angelman syndrome and rett syndrome. An important gene associated with Encephalopathy, Neonatal Severe is MECP2 (methyl CpG binding protein 2 (Rett syndrome)).

Description from OMIM:48 300673

Aliases & Classifications for Encephalopathy, Neonatal Severe

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Sources:
48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

50
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 48
severe neonatal-onset encephalopathy with microcephaly 50
severe congenital encephalopathy due to mecp2 mutation 50


External Ids:

ICD10 via Orphanet27 Q02
OMIM48 300673

Related Diseases for Encephalopathy, Neonatal Severe

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18GeneCards, 19GeneDecks
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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
1angelman syndrome10.0MECP2
2rett syndrome10.0MECP2

Symptoms for Encephalopathy, Neonatal Severe

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48OMIM
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Symptoms by clinical synopsis from OMIM:

300673

Clinical features from OMIM:

300673

Drugs & Therapeutics for Encephalopathy, Neonatal Severe

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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Anatomical Context for Encephalopathy, Neonatal Severe

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Animal Models for Encephalopathy, Neonatal Severe or affiliated genes

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Publications for Encephalopathy, Neonatal Severe

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Variations for Encephalopathy, Neonatal Severe

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Expression for genes affiliated with Encephalopathy, Neonatal Severe

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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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

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Compounds for genes affiliated with Encephalopathy, Neonatal Severe

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GO Terms for genes affiliated with Encephalopathy, Neonatal Severe

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Products for genes affiliated with Encephalopathy, Neonatal Severe

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Encephalopathy, Neonatal Severe

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet