MCID: MCP016
MIFTS: 47

Mecp2 Duplication Syndrome malady

Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental diseases categories
Download this MalaCard

Summaries for Mecp2 Duplication Syndrome

About this section
Sources:
21Genetics Home Reference, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

Fully expand this MalaCard
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 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:47 300815

GeneReviews summary for mecp2-dup

Aliases & Classifications for Mecp2 Duplication Syndrome

About this section
Sources:
62UMLS, 19GeneReviews, 20GeneTests, 22GTR, 21Genetics Home Reference, 49Orphanet, 47OMIM, 26ICD10 via Orphanet, 36MESH via Orphanet, 63UMLS via Orphanet
See all sources

Classifications:



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 62
allan-herndon-dudley syndrome 62
x chromosome, trisomy xq 62
telomeric duplication xq 49
distal duplication xq 49


External Ids:

OMIM47 300815
ICD10 via Orphanet26 Q99.8
MESH via Orphanet36 C537723
UMLS via Orphanet63 C1846058

Related Diseases for Mecp2 Duplication Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
47OMIM, 49Orphanet
See all sources


Clinical features from OMIM:

300815

Symptoms:

49 (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

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Mecp2 Duplication Syndrome

Search NIH Clinical Center for Mecp2 Duplication Syndrome

Genetic Tests for Mecp2 Duplication Syndrome

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Mecp2 Duplication Syndrome:

id Genetic test Affiliating Genes
1 Mecp2 Duplication Syndrome20 22 MECP2

Anatomical Context for Mecp2 Duplication Syndrome

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Mecp2 Duplication Syndrome:

33
Testes, Bone

Animal Models for Mecp2 Duplication Syndrome or affiliated genes

About this section
Sources:
37MGI
See all sources

MGI Mouse Phenotypes related to Mecp2 Duplication Syndrome:

37
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

About this section
Sources:
52PubMed
See all sources

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

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

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

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
50PathCards, 55Reactome
See all sources

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

About this section
Sources:
45Novoseek, 24HMDB, 11DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1oligonucleotide459.3MECP2, FLNA
2guanine45 24 1110.2MECP2, FLNA, L1CAM

GO Terms for genes affiliated with Mecp2 Duplication Syndrome

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mecp2 Duplication Syndrome

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet