MCID: MCP016
MIFTS: 45

Mecp2 Duplication Syndrome malady

Neuronal diseases, Fetal diseases categories

Summaries for Mecp2 Duplication Syndrome

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21Genetics Home Reference, 46OMIM, 19GeneReviews, 32MalaCards
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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 epilepsy syndrome and allan-herndon-dudley syndrome, and has symptoms including restricted joint mobility/joint stiffness/ankylosis, abnormal gait and inguinal/inguinoscrotal/crural hernia. 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. Affiliated tissues include testes and bone, and related mouse phenotypes are craniofacial and vision/eye.

Description from OMIM:46 300815

GeneReviews summary for mecp2-dup

Aliases & Classifications for Mecp2 Duplication Syndrome

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Sources:
60UMLS, 19GeneReviews, 20GeneTests, 22GTR, 21Genetics Home Reference, 48Orphanet, 46OMIM, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
trisomy xq28:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

mecp2 duplication syndrome 19 20 22 21
trisomy xq28 21 48 46
lubs x-linked mental retardation syndrome 21 60
allan-herndon-dudley syndrome 60
x chromosome, trisomy xq 60
telomeric duplication xq 48
distal duplication xq 48


External Ids:

OMIM46 300815
ICD10 via Orphanet26 Q99.8

Related Diseases for Mecp2 Duplication Syndrome

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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

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46OMIM, 48Orphanet
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Clinical features from OMIM:

300815

Symptoms:

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

Drugs & Therapeutics for Mecp2 Duplication Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Mecp2 Duplication Syndrome

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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

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32MalaCards
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MalaCards organs/tissues related to Mecp2 Duplication Syndrome:

32
Testes, Bone

Animal Models for Mecp2 Duplication Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Mecp2 Duplication Syndrome:

36
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

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50PubMed
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Articles related to Mecp2 Duplication Syndrome:

(show all 21)
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
Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition. (19844254)
2010
16
The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA. (19018795)
2009
17
Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. (20035514)
2009
18
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
19
Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR). (15841480)
2005
20
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
21
MECP2 Duplication Syndrome (20301461)
1993

Genetic Variations for Mecp2 Duplication Syndrome

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Expression for genes affiliated with Mecp2 Duplication Syndrome

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

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Pathways for genes affiliated with Mecp2 Duplication Syndrome

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53Reactome
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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

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44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Mecp2 Duplication Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1guanine44 11 2410.5FLNA, MECP2, L1CAM

GO Terms for genes affiliated with Mecp2 Duplication Syndrome

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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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  • Antibodies
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Sources for Mecp2 Duplication Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet