MCID: MCP022
MIFTS: 13

Mecp2-Related Severe Neonatal Encephalopathy

Categories: Genetic diseases, Mental 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 25 36
Methyl-Cytosine Phosphate Guanine Binding Protein 2 Related Severe Neonatal Encephalopathy 25
Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations 71
Severe Congenital Encephalopathy Due to Mecp2 Mutation 25
Severe Neonatal Encephalopathy Due to Mecp2 Mutations 25

Classifications:



External Ids:

KEGG 36 H01211
UMLS 71 C1968556

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. MECP2 MECP2 MECP2 MECP2-related severe neonatal encephalopathy is the most severe condition in a spectrum of disorders with the same genetic cause. The mildest is PPM-X syndrome, followed by MECP2 duplication syndrome, then Rett syndrome (which exclusively affects females), and finally MECP2-related severe neonatal encephalopathy. MECP2 MECP2 MECP2

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 rett syndrome, and has symptoms including seizures, myoclonus and apnea. Affiliated tissues include brain.

KEGG : 36 MECP2-related severe neonatal encephalopathy is a rare disorder of males characterized by a static encephalopathy, severe developmental delays, hypotonia, seizures, and respiratory abnormalities that often leads to death at an early age. Mutations in the MECP2 gene cause this disease, and females with these same mutations typically have a disorder called Rett syndrome. Most boys with this disorder have been identified because they have female siblings with Rett syndrome.

Related Diseases for Mecp2-Related Severe Neonatal Encephalopathy

Diseases in the Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations family:

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 11.7
2 rett syndrome 11.5

Symptoms & Phenotypes for Mecp2-Related Severe Neonatal Encephalopathy

UMLS symptoms related to Mecp2-Related Severe Neonatal Encephalopathy:


seizures, myoclonus, apnea, 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

Anatomical Context for Mecp2-Related Severe Neonatal Encephalopathy

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

40
Brain

Publications for Mecp2-Related Severe Neonatal Encephalopathy

Articles related to Mecp2-Related Severe Neonatal Encephalopathy:

# Title Authors PMID Year
1
A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation. 61
29341476 2018
2
A rare MeCP2_e1 mutation first described in a male patient with severe neonatal encephalopathy. 61
27090848 2016

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
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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