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 bruxism. 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 (showing 1, show less)
# 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:

(showing 95, show less)
# 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
The incidence of Rett syndrome in France. 24
16647997 2006
36
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. 24
16183801 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
Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls. 24
15367913 2005
51
Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome. 24
15608638 2005
52
Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype. 24
15526954 2004
53
Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. 24
15057977 2004
54
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. 24
15034579 2004
55
A WW domain binding region in methyl-CpG-binding protein MeCP2: impact on Rett syndrome. 24
14618241 2004
56
The major form of MeCP2 has a novel N-terminus generated by alternative splicing. 24
15034150 2004
57
MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation. 24
14598336 2003
58
Mutations and polymorphisms in the human methyl CpG-binding protein MECP2. 24
12872250 2003
59
Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain. 24
12843318 2003
60
Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations? 24
12746406 2003
61
Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. 24
12655490 2003
62
Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). 24
12615169 2003
63
Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening? 24
12325019 2002
64
A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome. 24
11885030 2002
65
Functional characterisation of MeCP2 mutations found in male patients with X linked mental retardation. 24
11836365 2002
66
A Rett syndrome MECP2 mutation that causes mental retardation in men. 24
11805248 2002
67
Rett syndrome: clinical manifestations in males with MECP2 mutations. 24
11913564 2002
68
Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy. 24
11896459 2002
69
Functional analyses of MeCP2 mutations associated with Rett syndrome using transient expression systems. 24
11738866 2001
70
Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene. 24
11521215 2001
71
MeCP2 mutations in children with and without the phenotype of Rett syndrome. 24
11402105 2001
72
Occurrence of Rett syndrome in boys. 24
11392517 2001
73
Two affected boys in a Rett syndrome family: clinical and molecular findings. 24
11071498 2000
74
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. 24
10986043 2000
75
MECP2 mutation in male patients with non-specific X-linked mental retardation. 24
11007980 2000
76
Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males. 24
11022934 2000
77
Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. 24
10805343 2000
78
Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. 24
10814718 2000
79
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. 24
10767337 2000
80
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. 24
10577905 1999
81
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 24
10508514 1999
82
XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28. 24
10398236 1999
83
X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: linkage study and neuropsychological data in a large family. 24
10232754 1999
84
Rett syndrome: randomized controlled trial of L-carnitine. 24
10190267 1999
85
Neonatal encephalopathy in two boys in families with recurrent Rett syndrome. 24
9620015 1998
86
X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies. 24
9377804 1997
87
PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28. 24
8651288 1996
88
Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies. 61
27640358 2016
89
Loss and Gain of MeCP2 Cause Similar Hippocampal Circuit Dysfunction that Is Rescued by Deep Brain Stimulation in a Rett Syndrome Mouse Model. 61
27499081 2016
90
MECP2 disorders: from the clinic to mice and back. 61
26237041 2015
91
MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome. 61
25870282 2015
92
The relationship of Rett syndrome and MECP2 disorders to autism. 61
23226951 2012
93
Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus. 61
19369296 2009
94
The story of Rett syndrome: from clinic to neurobiology. 61
17988628 2007
95
MECP2 Disorders 61
20301670 2001

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:

(showing 2, show less)
# 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
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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19 FMA
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32 ICD10
33 ICD10 via Orphanet
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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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