MCID: 15Q008
MIFTS: 9

15q Duplication Syndrome and Related Disorders

Aliases & Classifications for 15q Duplication Syndrome and Related Disorders

MalaCards integrated aliases for 15q Duplication Syndrome and Related Disorders:

Name: 15q Duplication Syndrome and Related Disorders 24

Characteristics:

GeneReviews:

24
Penetrance In maternal idic(15) penetrance is 100%; expressivity is variable....

Summaries for 15q Duplication Syndrome and Related Disorders

MalaCards based summary : 15q Duplication Syndrome and Related Disorders is related to chromosome 15q11-q13 duplication syndrome and alacrima, achalasia, and mental retardation syndrome. Affiliated tissues include brain and heart.

GeneReviews: NBK367946

Related Diseases for 15q Duplication Syndrome and Related Disorders

Diseases related to 15q Duplication Syndrome and Related Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 15q11-q13 duplication syndrome 10.1
2 alacrima, achalasia, and mental retardation syndrome 10.1
3 west syndrome 10.1
4 autism spectrum disorder 10.1
5 chromosomal triplication 10.1
6 hypotonia 10.1

Graphical network of the top 20 diseases related to 15q Duplication Syndrome and Related Disorders:



Diseases related to 15q Duplication Syndrome and Related Disorders

Symptoms & Phenotypes for 15q Duplication Syndrome and Related Disorders

Drugs & Therapeutics for 15q Duplication Syndrome and Related Disorders

Search Clinical Trials , NIH Clinical Center for 15q Duplication Syndrome and Related Disorders

Genetic Tests for 15q Duplication Syndrome and Related Disorders

Anatomical Context for 15q Duplication Syndrome and Related Disorders

MalaCards organs/tissues related to 15q Duplication Syndrome and Related Disorders:

40
Brain, Heart

Publications for 15q Duplication Syndrome and Related Disorders

Articles related to 15q Duplication Syndrome and Related Disorders:

(show top 50) (show all 69)
# Title Authors PMID Year
1
The complex behavioral phenotype of 15q13.3 microdeletion syndrome. 24
26963284 2016
2
15q13.3 duplication in two patients with childhood-onset schizophrenia. 24
26968334 2016
3
Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome. 24
27158270 2016
4
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. 24
26402605 2015
5
15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients. 24
25596525 2015
6
The 15q11.2 BP1-BP2 microdeletion syndrome: a review. 24
25689425 2015
7
Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature. 24
25077648 2015
8
Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2. 24
24821083 2014
9
The penetrance of copy number variations for schizophrenia and developmental delay. 24
23992924 2014
10
A survey of seizures and current treatments in 15q duplication syndrome. 24
24502430 2014
11
Analysis of copy number variations at 15 schizophrenia-associated loci. 24
24311552 2014
12
Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases. 24
24239951 2014
13
Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays. 24
23813976 2013
14
Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts. 24
23044707 2013
15
The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature. 24
23495136 2013
16
Prevention of sudden unexpected death in epilepsy: a realistic goal? 24
23646967 2013
17
Mutation of HERC2 causes developmental delay with Angelman-like features. 24
23243086 2013
18
A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder. 24
23065719 2012
19
Differences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autism. 24
22487857 2012
20
Molecular and Clinical Aspects of Angelman Syndrome. 24
22670133 2012
21
CNVs: harbingers of a rare variant revolution in psychiatric genetics. 24
22424231 2012
22
Sudden, unexpected death in epilepsy. 24
22070477 2011
23
Risk of sudden unexpected death in epilepsy in patients given adjunctive antiepileptic treatment for refractory seizures: a meta-analysis of placebo-controlled randomised trials. 24
21937278 2011
24
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. 24
21359847 2011
25
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 24
21844811 2011
26
Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother. 24
21145272 2011
27
Parental origin, DNA structure, and the schizophrenia spectrum. 24
21474594 2011
28
Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness. 24
21324950 2011
29
The behavioral phenotype of the idic(15) syndrome. 24
20981774 2010
30
A single-tube quantitative high-resolution melting curve method for parent-of-origin determination of 15q duplications. 24
20642357 2010
31
Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication. 24
20635369 2010
32
The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13. 24
18840528 2010
33
The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc. 24
20211139 2010
34
A longitudinal follow-up study of autistic symptoms in children and adults with duplications of 15q11-13. 24
19548260 2010
35
Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders. 24
19278672 2009
36
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. 24
19372089 2009
37
Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism. 24
19563756 2009
38
Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication. 24
19396834 2009
39
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. 24
19404257 2009
40
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. 24
18805830 2009
41
Prader-Willi syndrome. 24
18781185 2009
42
The inv dup (15) or idic (15) syndrome (Tetrasomy 15q). 24
19019226 2008
43
Key clinical features to identify girls with CDKL5 mutations. 24
18790821 2008
44
CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. 24
18809835 2008
45
Gabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits in non-selective attention and hypoplasia of cerebellar vermal lobules: a potential model of autism spectrum disorder. 24
17983671 2008
46
Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15. 24
18177502 2008
47
The story of Rett syndrome: from clinic to neurobiology. 24
17988628 2007
48
15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders. 24
17339270 2007
49
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. 24
16183801 2006
50
Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13. 24
16470730 2006

Variations for 15q Duplication Syndrome and Related Disorders

Expression for 15q Duplication Syndrome and Related Disorders

Search GEO for disease gene expression data for 15q Duplication Syndrome and Related Disorders.

Pathways for 15q Duplication Syndrome and Related Disorders

GO Terms for 15q Duplication Syndrome and Related Disorders

Sources for 15q Duplication Syndrome and Related Disorders

3 CDC
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32 ICD10
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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