MCID: MCP016
MIFTS: 49

Mecp2 Duplication Syndrome malady

Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental diseases categories
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Summaries for Mecp2 Duplication Syndrome

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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 based summary: Mecp2 Duplication Syndrome, also known as trisomy xq28, is related to mental retardation and ppm-x syndrome, and has symptoms including ptosis, blepharophimosis/short palpebral fissures and epicanthic folds. An important gene associated with Mecp2 Duplication Syndrome is MECP2 (methyl CpG binding protein 2 (Rett syndrome)), and among its related pathways is Hemostasis. The compounds oligonucleotide and guanine have been mentioned in the context of this disorder. Affiliated tissues include testes, bone and brain, 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:
19GeneReviews, 20GeneTests, 22GTR, 21Genetics Home Reference, 48Orphanet, 46OMIM, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Mecp2 Duplication Syndrome, Aliases & Descriptions:

Name: Mecp2 Duplication Syndrome 19 20 22 21
Trisomy Xq28 21 48 46 62
Lubs X-Linked Mental Retardation Syndrome 21 62
 
X Chromosome, Trisomy Xq 62
Telomeric Duplication Xq 48
Distal Duplication Xq 48


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 300815
MESH via Orphanet35 C537723
ICD10 via Orphanet26 Q99.8
UMLS via Orphanet63 C1846058

Related Diseases for Mecp2 Duplication Syndrome

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Diseases related to Mecp2 Duplication Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation30.2FLNA, L1CAM, MECP2
2ppm-x syndrome10.5
3lubs x-linked mental retardation syndrome10.4
4dystonia10.2
5learning disability10.2
6ataxia10.2
7spasticity10.2
8mental retardation, x-linked syndromic, lubs type10.2
9distal xq28 microduplication syndrome10.1
10infantile epileptic encephalopathy10.0FLNA, MECP2
11epilepsy syndrome10.0FLNA, MECP2
12hydrocephalus9.8L1CAM, FLNA
13intellectual disability multi-gene panels9.7L1CAM, MECP2

Graphical network of diseases related to Mecp2 Duplication Syndrome:



Diseases related to mecp2 duplication syndrome

Symptoms for Mecp2 Duplication Syndrome

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Clinical features from OMIM:

300815

Symptoms:

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

HPO human phenotypes related to Mecp2 Duplication Syndrome:

(show all 15)
id Description Frequency HPO Source Accession
1 cryptorchidism hallmark (90%) HP:0000028
2 everted lower lip vermilion hallmark (90%) HP:0000232
3 epicanthus hallmark (90%) HP:0000286
4 ptosis hallmark (90%) HP:0000508
5 blepharophimosis hallmark (90%) HP:0000581
6 neurological speech impairment hallmark (90%) HP:0002167
7 delayed skeletal maturation hallmark (90%) HP:0002750
8 abnormality of chromosome segregation hallmark (90%) HP:0002916
9 short stature hallmark (90%) HP:0004322
10 tented upper lip vermilion hallmark (90%) HP:0010804
11 cognitive impairment hallmark (90%) HP:0100543
12 pectus excavatum typical (50%) HP:0000767
13 gait disturbance typical (50%) HP:0001288
14 hernia of the abdominal wall typical (50%) HP:0004299
15 limitation of joint mobility occasional (7.5%) HP:0001376

Drugs & Therapeutics for Mecp2 Duplication Syndrome

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Drug clinical trials:

Search ClinicalTrials for Mecp2 Duplication Syndrome

Search NIH Clinical Center for Mecp2 Duplication Syndrome

Genetic Tests for Mecp2 Duplication Syndrome

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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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MalaCards organs/tissues related to Mecp2 Duplication Syndrome:

32
Testes, Bone, Brain

Animal Models for Mecp2 Duplication Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Mecp2 Duplication Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.7L1CAM, FLNA, MECP2
2MP:00053918.6L1CAM, MECP2, FLNA
3MP:00053908.6MECP2, FLNA, L1CAM
4MP:00053898.5MECP2, L1CAM, FLNA
5MP:00053788.5L1CAM, MECP2, FLNA
6MP:00053868.4L1CAM, MECP2, FLNA
7MP:00036318.2FLNA, MECP2, L1CAM

Publications for Mecp2 Duplication Syndrome

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Articles related to Mecp2 Duplication Syndrome:

(show all 18)
idTitleAuthorsYear
1
Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice. (24970834)
2014
2
Deep brain stimulation for the management of seizures in MECP2 duplication syndrome. (24675111)
2014
3
The behavioral phenotype in MECP2 duplication syndrome: a comparison with idiopathic autism. (23169761)
2013
4
Brief report: regression timing and associated features in MECP2 duplication syndrome. (23456562)
2013
5
Overexpression of methyl-CpG-binding protein 2 and autoimmunity: evidence from MECP2 duplication syndrome, lupus, MECP2 transgenic and Mecp2 deficient mice. (23861028)
2013
6
Dendritic arborization and spine dynamics are abnormal in the mouse model of MECP2 duplication syndrome. (24336718)
2013
7
MECP2 duplication syndrome in both genders. (22877836)
2013
8
Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature. (22578097)
2012
9
Eating-induced epileptic spasms in a boy with MECP2 duplication syndrome: insights into pathogenesis of genetic epilepsies. (23248047)
2012
10
A mouse model for MeCP2 duplication syndrome: MeCP2 overexpression impairs learning and memory and synaptic transmission. (22378884)
2012
11
Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome. (22231481)
2012
12
MECP2 Duplication Syndrome. (22679399)
2012
13
Novel clinical finding in MECP2 duplication syndrome. (21590509)
2011
14
The MECP2 duplication syndrome. (20425814)
2010
15
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
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
MECP2 Duplication Syndrome (20301461)
1993

Variations for Mecp2 Duplication Syndrome

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Expression for genes affiliated with Mecp2 Duplication Syndrome

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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

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Pathways related to Mecp2 Duplication Syndrome according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Mecp2 Duplication Syndrome

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

idCompoundScoreTop Affiliating Genes
1oligonucleotide449.3MECP2, FLNA
2guanine44 24 1110.2MECP2, FLNA, L1CAM

GO Terms for genes affiliated with Mecp2 Duplication Syndrome

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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:0081349.3MECP2, FLNA

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet