MCID: MCP016
MIFTS: 47

Mecp2 Duplication Syndrome malady

Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental diseases categories

Summaries for Mecp2 Duplication Syndrome

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48OMIM, 20GeneReviews, 34MalaCards
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MalaCards: Mecp2 Duplication Syndrome, also known as trisomy xq28, is related to mental retardation and ppm-x 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 Hemostasis. The compounds oligonucleotide and 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:48 300815

GeneReviews summary for mecp2-dup

Aliases & Classifications for Mecp2 Duplication Syndrome

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Sources:
63UMLS, 20GeneReviews, 21GeneTests, 23GTR, 22Genetics Home Reference, 50Orphanet, 48OMIM, 27ICD10 via Orphanet, 37MESH via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
trisomy xq28:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

mecp2 duplication syndrome 20 21 23 22
trisomy xq28 22 50 48
lubs x-linked mental retardation syndrome 22 63
allan-herndon-dudley syndrome 63
x chromosome, trisomy xq 63
telomeric duplication xq 50
distal duplication xq 50


External Ids:

OMIM48 300815
ICD10 via Orphanet27 Q99.8
MESH via Orphanet37 C537723
UMLS via Orphanet64 C1846058

Related Diseases for Mecp2 Duplication Syndrome

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18GeneCards, 19GeneDecks
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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 retardation30.5MECP2, FLNA, L1CAM
2ppm-x syndrome10.5
3dystonia10.2
4learning disability10.2
5lubs x-linked mental retardation syndrome10.2
6ataxia10.2
7spasticity10.2
8mental retardation, x-linked syndromic, lubs type10.2
9distal xq28 microduplication syndrome10.1
10infantile epileptic encephalopathy10.0MECP2, FLNA
11epilepsy syndrome10.0MECP2, FLNA
12hydrocephalus10.0L1CAM, FLNA
13intellectual disability9.9MECP2, L1CAM

Graphical network of diseases related to Mecp2 Duplication Syndrome:



Diseases related to mecp2 duplication syndrome

Symptoms for Mecp2 Duplication Syndrome

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48OMIM, 50Orphanet
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Clinical features from OMIM:

300815

Symptoms:

50 (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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Mecp2 Duplication Syndrome

Drug clinical trials:

Search ClinicalTrials for Mecp2 Duplication Syndrome

Search NIH Clinical Center for Mecp2 Duplication Syndrome

Search CenterWatch for Mecp2 Duplication Syndrome

Genetic Tests for Mecp2 Duplication Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Mecp2 Duplication Syndrome:

id Genetic test Affiliating Genes
1 Mecp2 Duplication Syndrome21 23 MECP2

Anatomical Context for Mecp2 Duplication Syndrome

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34MalaCards
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MalaCards organs/tissues related to Mecp2 Duplication Syndrome:

34
Testes, Bone

Animal Models for Mecp2 Duplication Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Mecp2 Duplication Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.7MECP2, FLNA, L1CAM
2MP:00053918.6L1CAM, FLNA, MECP2
3MP:00053908.6MECP2, FLNA, L1CAM
4MP:00053898.5L1CAM, FLNA, MECP2
5MP:00053788.5MECP2, FLNA, L1CAM
6MP:00053868.4MECP2, FLNA, L1CAM
7MP:00036318.2L1CAM, FLNA, MECP2

Publications for Mecp2 Duplication Syndrome

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Sources:
53PubMed
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Articles related to Mecp2 Duplication Syndrome:

(show all 15)
idTitleAuthorsYear
1
Brief report: regression timing and associated features in MECP2 duplication syndrome. (23456562)
2013
2
Overexpression of methyl-CpG-binding protein 2 and autoimmunity: evidence from MECP2 duplication syndrome, lupus, MECP2 transgenic and Mecp2 deficient mice. (23861028)
2013
3
Dendritic arborization and spine dynamics are abnormal in the mouse model of MECP2 duplication syndrome. (24336718)
2013
4
MECP2 duplication syndrome in both genders. (22877836)
2013
5
Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature. (22578097)
2012
6
Eating-induced epileptic spasms in a boy with MECP2 duplication syndrome: insights into pathogenesis of genetic epilepsies. (23248047)
2012
7
A mouse model for MeCP2 duplication syndrome: MeCP2 overexpression impairs learning and memory and synaptic transmission. (22378884)
2012
8
Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome. (22231481)
2012
9
MECP2 Duplication Syndrome. (22679399)
2012
10
Novel clinical finding in MECP2 duplication syndrome. (21590509)
2011
11
The MECP2 duplication syndrome. (20425814)
2010
12
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
13
The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA. (19018795)
2009
14
Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. (20035514)
2009
15
MECP2 Duplication Syndrome (20301461)
1993

Variations for Mecp2 Duplication Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Mecp2 Duplication Syndrome:

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1SLC16A2NM_006517.4(SLC16A2): c.1313T> C (p.Leu438Pro)single nucleotide variantPathogenicrs104894931GRCh37Chr X, 73749190: 73749190
2SLC16A2NM_006517.4(SLC16A2): c.449C> T (p.Ala150Val)single nucleotide variantPathogenicrs104894936GRCh37Chr X, 73740843: 73740843
3SLC16A2NM_006517.4(SLC16A2): c.1190T> C (p.Leu397Pro)single nucleotide variantPathogenicrs122455132GRCh37Chr X, 73749067: 73749067
4SLC16A2nsv513796deletionPathogenic
5SLC16A2NM_006517.4(SLC16A2): c.1481T> C (p.Leu494Pro)single nucleotide variantPathogenicrs104894938GRCh37Chr X, 73751249: 73751249
6SLC16A2NM_006517.4(SLC16A2): c.1079T> G (p.Leu360Trp)single nucleotide variantPathogenicrs104894939GRCh37Chr X, 73745637: 73745637
7SLC16A2NM_006517.4(SLC16A2): c.1121C> A (p.Ser374Ter)single nucleotide variantPathogenicrs104894940GRCh37Chr X, 73745679: 73745679
8SLC16A2NM_006517.4(SLC16A2): c.461_463delTCT (p.Phe156del)deletionPathogenicrs387906501GRCh38Chr X, 74521026: 74521028
9SLC16A2NM_006517.4(SLC16A2): c.1612delC (p.Pro538Glnfs)deletionPathogenicrs113994166GRCh37Chr X, 73751380: 73751380
10SLC16A2NM_006517.4(SLC16A2): c.359C> T (p.Ser120Phe)single nucleotide variantPathogenicrs113994162GRCh37Chr X, 73641831: 73641831
11SLC16A2NM_006517.4(SLC16A2): c.1253T> C (p.Leu418Pro)single nucleotide variantPathogenicrs367543059GRCh37Chr X, 73749130: 73749130

Expression for genes affiliated with Mecp2 Duplication Syndrome

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2BioGPS, 16Gene 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

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51PathCards, 56Reactome
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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:
46Novoseek, 25HMDB, 12DrugBank
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Compounds related to Mecp2 Duplication Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1oligonucleotide469.3MECP2, FLNA
2guanine46 25 1210.2MECP2, FLNA, L1CAM

GO Terms for genes affiliated with Mecp2 Duplication Syndrome

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17Gene 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:0081349.3MECP2, FLNA

Products for genes affiliated with Mecp2 Duplication Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mecp2 Duplication Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet