FB2024_03 , released June 25, 2024
Human Disease Model Report: encephalopathy, neonatal severe, MECP2-related
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General Information
Name
encephalopathy, neonatal severe, MECP2-related
FlyBase ID
FBhh0000361
Disease Ontology Term
Parent Disease
OMIM
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
Overview

One of several diseases associated with the human X-linked gene MECP2; this severe disorder is seen in hemizygous male infants. For descriptions of related experiments in flies, see the human disease model report for neurodevelopmental disorders, MECP2-related (FBhh0000362).

[updated Aug. 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: encephalopathy, neonatal severe, MECP2-related
OMIM report

[ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS](https://omim.org/entry/300673)

Human gene(s) implicated

[METHYL-CpG-BINDING PROTEIN 2; MECP2](https://omim.org/entry/300005)

Symptoms and phenotype

Variable combinations of symptoms of neonatal encephalopathy are observed, including severe developmental delay, respiratory insufficiency, intractable seizures, abnormal muscle tone and movements, and early death. [from MIM:300673; 2016.08.08]

(OMIM, 2013-)
Genetics

This form of neonatal severe encephalopathy is caused by mutations in the X-linked MECP2 gene. Only males are affected; the same mutational lesions cause Rett syndrome in heterozygous females. [from MIM:300673; 2016.08.08]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information

MECP2 is dispensible in stem cells, but is essential for embryonic development. [from Gene Cards, MECP2; 2016.08.08]

(FlyBase Curators, 2013-)

MECP2, which binds methylated CpGs, is a chromatin-associated protein that can both activate and repress transcription; it is required for normal maturation of neurons. [from MIM:300005; 2016.08.08]

(OMIM, 2013-)
External links
Disease synonyms
encephalopathy, neonatal severe, due to MECP2 mutations
MECP2-related severe neonatal encephalopathy
neonatal severe encephalopathy
Ortholog Information
Human gene(s) in FlyBase
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
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        Publicly Available Stocks
        Selected Drosophila transgenes
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        Publicly Available Stocks
        RNAi constructs available
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        Publicly Available Stocks
        Selected Drosophila classical alleles
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        Publicly Available Stocks
        References (2)