MCID: MCP016
MIFTS: 39

Mecp2 Duplication Syndrome malady

Neuronal, Fetal categories

Summaries for Mecp2 Duplication Syndrome

Sources:
21Genetics Home Reference, 47OMIM, 19GeneReviews, 33MalaCards
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Genetics Home Reference:21 MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Most people with this condition also have weak muscle tone in infancy, feeding difficulties, poor or absent speech, seizures that may not improve with treatment, or muscle stiffness (spasticity). Individuals with MECP2 duplication syndrome have delayed development of motor skills such as sitting and walking. Some affected individuals experience the loss of previously acquired skills (developmental regression). Approximately one third of people with this condition cannot walk without assistance. Many individuals with MECP2 duplication syndrome have recurrent respiratory tract infections. These respiratory infections are a major cause of death in affected individuals, with almost half succumbing by age 25.

MalaCards: Mecp2 Duplication Syndrome, also known as trisomy xq28, is related to mental retardation and allan-herndon-dudley syndrome, and has symptoms including pectus excavatum, intellectual deficit/mental/psychomotor retardation/learning disability and ptosis. An important gene associated with Mecp2 Duplication Syndrome is MECP2 (methyl CpG binding protein 2 (Rett syndrome)), and among its related pathways is Platelet activation, signaling and aggregation. The compound guanine have been mentioned in the context of this disorder. Related mouse phenotypes are craniofacial and vision/eye.

Description from OMIM:47 300815

GeneReviews summary for mecp2-dup

Aliases & Classifications for Mecp2 Duplication Syndrome

Sources:
19GeneReviews, 20GeneTests, 22GTR, 21Genetics Home Reference, 49Orphanet, 47OMIM, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal


Characteristics (Orphanet epidemiological data):

49
trisomy xq28:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

mecp2 duplication syndrome 19 20 22 21
trisomy xq28 21 49 47
lubs x-linked mental retardation syndrome 21 61
allan-herndon-dudley syndrome 19 61
x chromosome, trisomy xq 61
telomeric duplication xq 49
distal duplication xq 49


External Ids:

OMIM47 300815
ICD10 via Orphanet26 Q99.8

Related Diseases for Mecp2 Duplication Syndrome

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Mecp2 Duplication Syndrome:



Diseases related to mecp2 duplication syndrome

Clinical Features for Mecp2 Duplication Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

300815

Symptoms:

49 (show all 15)
  • pectus excavatum
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • ptosis
  • abnormal gait
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • delayed bone age
  • inguinal/inguinoscrotal/crural hernia
  • restricted joint mobility/joint stiffness/ankylosis
  • short stature/dwarfism/nanism
  • epicanthic folds
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • total/partial trisomy/duplication
  • blepharophimosis/short palpebral fissures
  • everted lower lip
  • tented upper lip

Drugs & Therapeutics for Mecp2 Duplication Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Mecp2 Duplication Syndrome

Drug clinical trials:

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Search NIH Clinical Center for Mecp2 Duplication Syndrome

Search CenterWatch for Mecp2 Duplication Syndrome

Genetic Tests for Mecp2 Duplication Syndrome

Sources:
20GeneTests, 22GTR
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Genetic tests related to Mecp2 Duplication Syndrome:

id Genetic test Affiliating Genes
1 Mecp2 Duplication Syndrome20 22 MECP2

Anatomical Context for Mecp2 Duplication Syndrome

Animal Models for Mecp2 Duplication Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Mecp2 Duplication Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.6FLNA, MECP2, L1CAM
2MP:00053918.5FLNA, MECP2, L1CAM
3MP:00053868.5FLNA, MECP2, L1CAM
4MP:00053908.4L1CAM, MECP2, FLNA
5MP:00053898.2FLNA, MECP2, L1CAM

Publications for Mecp2 Duplication Syndrome

Sources:
51PubMed
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Articles related to Mecp2 Duplication Syndrome:

(show all 20)
idTitleAuthorsYear
1
The behavioral phenotype in MECP2 duplication syndrome: a comparison with idiopathic autism. (23169761)
2013
2
Brief report: regression timing and associated features in MECP2 duplication syndrome. (23456562)
2013
3
Overexpression of methyl-CpG-binding protein 2 and autoimmunity: evidence from MECP2 duplication syndrome, lupus, MECP2 transgenic and Mecp2 deficient mice. (23861028)
2013
4
Dendritic arborization and spine dynamics are abnormal in the mouse model of MECP2 duplication syndrome. (24336718)
2013
5
MECP2 duplication syndrome in both genders. (22877836)
2013
6
Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature. (22578097)
2012
7
Eating-induced epileptic spasms in a boy with MECP2 duplication syndrome: insights into pathogenesis of genetic epilepsies. (23248047)
2012
8
A mouse model for MeCP2 duplication syndrome: MeCP2 overexpression impairs learning and memory and synaptic transmission. (22378884)
2012
9
Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome. (22231481)
2012
10
MECP2 Duplication Syndrome. (22679399)
2012
11
Novel clinical finding in MECP2 duplication syndrome. (21590509)
2011
12
The MECP2 duplication syndrome. (20425814)
2010
13
Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28. (20177701)
2010
14
Semi-dominant X-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel MECP2 variant p.V122A: akin to the new MECP2 duplication syndrome? (19592282)
2010
15
The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA. (19018795)
2009
16
Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. (20035514)
2009
17
Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome. (15689435)
2005
18
Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR). (15841480)
2005
19
Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication. (15241799)
2004
20
MECP2 Duplication Syndrome (20301461)
1993

Genetic Variations for Mecp2 Duplication Syndrome

Expression for genes affiliated with Mecp2 Duplication Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mecp2 Duplication Syndrome

Search GEO for disease gene expression data for Mecp2 Duplication Syndrome.

Pathways for genes affiliated with Mecp2 Duplication Syndrome

Sources:
54Reactome
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Pathways related to Mecp2 Duplication Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1FLNA, L1CAM

Compounds for genes affiliated with Mecp2 Duplication Syndrome

Sources:
45Novoseek, 11DrugBank, 24HMDB
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Compounds related to Mecp2 Duplication Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1guanine45 11 2410.5FLNA, MECP2, L1CAM

GO Terms for genes affiliated with Mecp2 Duplication Syndrome

Sources:
16Gene Ontology
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Biological processes related to Mecp2 Duplication Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:0075969.1FLNA, L1CAM

Molecular functions related to Mecp2 Duplication Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor bindingGO:0081349.3FLNA, MECP2

Products for genes affiliated with Mecp2 Duplication Syndrome

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Sources for Mecp2 Duplication Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet