Aliases & Classifications for Mecp2 Disorders

MalaCards integrated aliases for Mecp2 Disorders:

Name: Mecp2 Disorders 24

Summaries for Mecp2 Disorders

MalaCards based summary : Mecp2 Disorders is related to lubs x-linked mental retardation syndrome and rett syndrome. An important gene associated with Mecp2 Disorders is MECP2 (Methyl-CpG Binding Protein 2). Affiliated tissues include bone, brain and cerebellum, and related phenotype is Increased shRNA abundance.

Wikipedia : 74 MECP2 (methyl CpG binding protein 2) is a gene that encodes the protein MECP2. MECP2 appears to be... more...

GeneReviews: NBK1497

Related Diseases for Mecp2 Disorders

Graphical network of the top 20 diseases related to Mecp2 Disorders:



Diseases related to Mecp2 Disorders

Symptoms & Phenotypes for Mecp2 Disorders

GenomeRNAi Phenotypes related to Mecp2 Disorders according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.62 FOXG1 MECP2

Drugs & Therapeutics for Mecp2 Disorders

Search Clinical Trials , NIH Clinical Center for Mecp2 Disorders

Genetic Tests for Mecp2 Disorders

Anatomical Context for Mecp2 Disorders

MalaCards organs/tissues related to Mecp2 Disorders:

40
Bone, Brain, Cerebellum, Hypothalamus

Publications for Mecp2 Disorders

Articles related to Mecp2 Disorders:

(show top 50) (show all 95)
# Title Authors PMID Year
1
The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children. 24
30756435 2019
2
Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort. 24
30405208 2019
3
Hand stereotypies: Lessons from the Rett Syndrome Natural History Study. 24
31053667 2019
4
Regression in Rett syndrome: Developmental pathways to its onset. 24
30832924 2019
5
Rett Syndrome: A Genetic Update and Clinical Review Focusing on Comorbidities. 24
29185709 2018
6
MeCP2_E1 N-terminal modifications affect its degradation rate and are disrupted by the Ala2Val Rett mutation. 24
28973632 2017
7
From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2. 24
27929079 2016
8
Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity. 24
27465203 2016
9
The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome. 24
26936630 2016
10
Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence. 24
26849438 2016
11
Epidemiology of Rett syndrome in Serbia: prevalence, incidence and survival. 24
25571926 2015
12
Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice. 24
24970834 2014
13
Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation. 24
24328834 2014
14
Assessment and management of nutrition and growth in Rett syndrome. 24
24084372 2013
15
An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders. 24
23452848 2013
16
Targeted manipulation of heterochromatin rescues MeCP2 Rett mutants and re-establishes higher order chromatin organization. 24
22923521 2012
17
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. 24
21441262 2011
18
Rett syndrome: revised diagnostic criteria and nomenclature. 24
21154482 2010
19
Binding of the Rett syndrome protein, MeCP2, to methylated and unmethylated DNA and chromatin. 24
21031501 2010
20
Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion. 24
20098342 2010
21
Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. 24
20035514 2009
22
Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence. 24
19644320 2009
23
Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome. 24
19365833 2009
24
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. 24
18985075 2009
25
CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. 24
18809835 2008
26
Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure. 24
18477000 2008
27
MeCP2, a key contributor to neurological disease, activates and represses transcription. 24
18511691 2008
28
Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband. 24
17712354 2007
29
An explanation for another familial case of Rett syndrome: maternal germline mosaicism. 24
17440498 2007
30
Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males. 24
17084570 2007
31
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms. 24
17387578 2007
32
Large deletions of the MECP2 gene in Chinese patients with classical Rett syndrome. 24
17026625 2006
33
Early progressive encephalopathy in boys and MECP2 mutations. 24
16832102 2006
34
Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2. 24
16155192 2006
35
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. 24
16183801 2006
36
The incidence of Rett syndrome in France. 24
16647997 2006
37
Rett syndrome in Australia: a review of the epidemiology. 24
16615965 2006
38
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update. 24
16473305 2006
39
Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2. 24
16251272 2005
40
Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome. 24
16077736 2005
41
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. 24
16080119 2005
42
Clinical stringency greatly improves mutation detection in Rett syndrome. 24
16225173 2005
43
Histone modifications in Rett syndrome lymphocytes: a preliminary evaluation. 24
16023547 2005
44
Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males. 24
15770224 2005
45
MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression. 24
15757975 2005
46
Germline mosaicism in Rett syndrome identified by prenatal diagnosis. 24
15691364 2005
47
Large genomic rearrangements in MECP2. 24
15712379 2005
48
Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome. 24
15689438 2005
49
Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome. 24
15689435 2005
50
Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome. 24
15608638 2005

Variations for Mecp2 Disorders

Expression for Mecp2 Disorders

Search GEO for disease gene expression data for Mecp2 Disorders.

Pathways for Mecp2 Disorders

GO Terms for Mecp2 Disorders

Biological processes related to Mecp2 Disorders according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription, DNA-templated GO:0045892 8.96 MECP2 FOXG1
2 brain development GO:0007420 8.62 MECP2 FOXG1

Sources for Mecp2 Disorders

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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