MCID: MCP022
MIFTS: 11

Mecp2-Related Severe Neonatal Encephalopathy

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mecp2-Related Severe Neonatal Encephalopathy

MalaCards integrated aliases for Mecp2-Related Severe Neonatal Encephalopathy:

Name: Mecp2-Related Severe Neonatal Encephalopathy 24 25
Methyl-Cytosine Phosphate Guanine Binding Protein 2 Related Severe Neonatal Encephalopathy 25
Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations 69
Severe Congenital Encephalopathy Due to Mecp2 Mutation 25
Severe Neonatal Encephalopathy Due to Mecp2 Mutations 25

Classifications:



Summaries for Mecp2-Related Severe Neonatal Encephalopathy

Genetics Home Reference : 25 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, and has symptoms including myoclonus, seizures and limb rigidity. An important gene associated with Mecp2-Related Severe Neonatal Encephalopathy is MECP2 (Methyl-CpG Binding Protein 2). Affiliated tissues include brain.

Related Diseases for Mecp2-Related Severe Neonatal Encephalopathy

Diseases in the Encephalopathy, Neonatal Severe family:

Mecp2-Related Severe Neonatal Encephalopathy

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

id Related Disease Score Top Affiliating Genes
1 encephalopathy, neonatal severe 11.3

Symptoms & Phenotypes for Mecp2-Related Severe Neonatal Encephalopathy

UMLS symptoms related to Mecp2-Related Severe Neonatal Encephalopathy:


myoclonus, seizures, limb rigidity

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

Genetic tests related to Mecp2-Related Severe Neonatal Encephalopathy:

id Genetic test Affiliating Genes
1 Mecp2-Related Severe Neonatal Encephalopathy 24

Anatomical Context for Mecp2-Related Severe Neonatal Encephalopathy

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

39
Brain

Publications for Mecp2-Related Severe Neonatal Encephalopathy

Variations for Mecp2-Related Severe Neonatal Encephalopathy

ClinVar genetic disease variations for Mecp2-Related Severe Neonatal Encephalopathy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MECP2 NM_004992.3(MECP2): c.473C> T (p.Thr158Met) single nucleotide variant Pathogenic/Likely pathogenic rs28934906 GRCh37 Chromosome X, 153296806: 153296806
2 MECP2 MECP2, 1-BP DEL, 806G deletion Pathogenic
3 MECP2 MECP2, 2-BP DEL, 488GG deletion Pathogenic
4 MECP2 MECP2, 32-BP DEL, NT1154 deletion Pathogenic

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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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