MCID: ENC021
MIFTS: 16

Encephalopathy, Neonatal Severe malady

Genetic diseases, Neuronal diseases, Rare diseases categories
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Summaries for Encephalopathy, Neonatal Severe

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47OMIM, 33MalaCards
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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:47 300673

Aliases & Classifications for Encephalopathy, Neonatal Severe

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Sources:
47OMIM, 49Orphanet, 26ICD10 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):

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:

ICD10 via Orphanet26 Q02
OMIM47 300673

Related Diseases for Encephalopathy, Neonatal Severe

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17GeneCards, 18GeneDecks
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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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47OMIM
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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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center 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, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Encephalopathy, Neonatal Severe

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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
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  • Antibodies

Sources for Encephalopathy, Neonatal Severe

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet