MCID: MCP022
MIFTS: 9

Mecp2-Related Severe Neonatal Encephalopathy

Aliases & Classifications for Mecp2-Related Severe Neonatal Encephalopathy

MalaCards integrated aliases for Mecp2-Related Severe Neonatal Encephalopathy:

Name: Mecp2-Related Severe Neonatal Encephalopathy 24 36
Methyl-Cytosine Phosphate Guanine Binding Protein 2 Related Severe Neonatal Encephalopathy 24
Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations 69
Severe Congenital Encephalopathy Due to Mecp2 Mutation 24
Severe Neonatal Encephalopathy Due to Mecp2 Mutations 24

External Ids:

KEGG 36 H01211
UMLS 69 C1968556

Summaries for Mecp2-Related Severe Neonatal Encephalopathy

Genetics Home Reference : 24 MECP2-related severe neonatal encephalopathy is a neurological disorder that primarily affects males and causes brain dysfunction (encephalopathy). Affected males have a small head size (microcephaly), poor muscle tone (hypotonia) in infancy, movement disorders, rigidity, and seizures. Infants with this condition appear normal at birth but then develop severe encephalopathy within the first week of life. These babies experience poor feeding, leading to a failure to gain weight and grow at the expected rate (failure to thrive). Individuals with MECP2-related severe neonatal encephalopathy have severe to profound intellectual disability. Affected males have breathing problems, with some having episodes in which breathing slows or stops for short periods (apnea). As the child ages, the apnea episodes tend to last longer, especially during sleep, and affected babies often require use of a machine to help regulate their breathing (mechanical ventilation). Most males with MECP2-related severe neonatal encephalopathy do not live past the age of 2 because of respiratory failure.

MalaCards based summary : Mecp2-Related Severe Neonatal Encephalopathy, also known as methyl-cytosine phosphate guanine binding protein 2 related severe neonatal encephalopathy, is related to encephalopathy, neonatal severe, due to mecp2 mutations, and has symptoms including limb rigidity, seizures and myoclonus. Affiliated tissues include brain.

Related Diseases for Mecp2-Related Severe Neonatal Encephalopathy

Diseases related to Mecp2-Related Severe Neonatal Encephalopathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 encephalopathy, neonatal severe, due to mecp2 mutations 11.4

Symptoms & Phenotypes for Mecp2-Related Severe Neonatal Encephalopathy

UMLS symptoms related to Mecp2-Related Severe Neonatal Encephalopathy:


limb rigidity, seizures, myoclonus, apnea

Drugs & Therapeutics for Mecp2-Related Severe Neonatal Encephalopathy

Search Clinical Trials , NIH Clinical Center for Mecp2-Related Severe Neonatal Encephalopathy

Genetic Tests for Mecp2-Related Severe Neonatal Encephalopathy

Anatomical Context for Mecp2-Related Severe Neonatal Encephalopathy

MalaCards organs/tissues related to Mecp2-Related Severe Neonatal Encephalopathy:

38
Brain

Publications for Mecp2-Related Severe Neonatal Encephalopathy

Variations for Mecp2-Related Severe Neonatal Encephalopathy

Expression for Mecp2-Related Severe Neonatal Encephalopathy

Search GEO for disease gene expression data for Mecp2-Related Severe Neonatal Encephalopathy.

Pathways for Mecp2-Related Severe Neonatal Encephalopathy

GO Terms for Mecp2-Related Severe Neonatal Encephalopathy

Sources for Mecp2-Related Severe Neonatal Encephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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