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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MalaCards based summary: Encephalopathy, Neonatal Severe, also known as severe neonatal-onset encephalopathy with microcephaly, is related to angelman syndrome and rett syndrome, and has symptoms including 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

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Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet
See all sources

Encephalopathy, Neonatal Severe, Aliases & Descriptions:

Name: Encephalopathy, Neonatal Severe 46
Severe Neonatal-Onset Encephalopathy with Microcephaly 48
 
Severe Congenital Encephalopathy Due to Mecp2 Mutation 48


Classifications:

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


External Ids:

OMIM46 300673
ICD10 via Orphanet26 Q02

Related Diseases for Encephalopathy, Neonatal Severe

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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 syndrome10.1MECP2
2rett syndrome10.0MECP2

Symptoms for Encephalopathy, Neonatal Severe

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Symptoms by clinical synopsis from OMIM:

300673

Clinical features from OMIM:

300673

HPO human phenotypes related to Encephalopathy, Neonatal Severe:

(show all 20)
id Description Frequency HPO Source Accession
1 progressive microcephaly HP:0000253
2 seizures HP:0001250
3 global developmental delay HP:0001263
4 encephalopathy HP:0001298
5 myoclonus HP:0001336
6 hyperreflexia HP:0001347
7 x-linked recessive inheritance HP:0001419
8 failure to thrive HP:0001508
9 gastroesophageal reflux HP:0002020
10 rigidity HP:0002063
11 respiratory insufficiency HP:0002093
12 apnea HP:0002104
13 polymicrogyria HP:0002126
14 eeg abnormality HP:0002353
15 congenital onset HP:0003577
16 intellectual disability, progressive HP:0006887
17 central hypoventilation HP:0007110
18 feeding difficulties in infancy HP:0008872
19 muscular hypotonia of the trunk HP:0008936
20 intellectual disability, severe HP:0010864

Drugs & Therapeutics for Encephalopathy, Neonatal Severe

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Drug clinical trials:

Search ClinicalTrials for Encephalopathy, Neonatal Severe

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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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

Sources for Encephalopathy, Neonatal Severe

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet