MCID: CHR590
MIFTS: 39

Chromosome 15q11-Q13 Duplication Syndrome

Categories: Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Chromosome 15q11-Q13 Duplication Syndrome

MalaCards integrated aliases for Chromosome 15q11-Q13 Duplication Syndrome:

Name: Chromosome 15q11-Q13 Duplication Syndrome 56 29 6
Duplication 15q11-Q13 Syndrome 56 71
Duplication/inversion 15q11 25 29
Autism Susceptibility 4 56 13
Isodicentric Chromosome 15 Syndrome 25
15q11q13 Microduplication Syndrome 58
15q11-Q13 Duplication Syndrome 25
15q11q13 Duplication Syndrome 58
Isodicentric Chromosome 15 25
Non-Distal Tetrasomy 15q 25
Inverted Duplication 15 25
Trisomy 15q11q13 58
Dup15q Syndrome 25
Dup(15)(q11q13) 58
Inv Dup(15) 25
Idic(15) 25

Characteristics:

Orphanet epidemiological data:

58
15q11q13 microduplication syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Miscellaneous:
incomplete penetrance
genetic heterogeneity (see )
onset by 3 years of age
male to female ratio 4:1
occurs in 2-5 per 10,000 individuals
associated with tuberous sclerosis
associated with untreated phenylketonuria
associated with fragile x syndrome

Inheritance:
autosomal dominant


HPO:

31
chromosome 15q11-q13 duplication syndrome:
Inheritance autosomal dominant inheritance multifactorial inheritance heterogeneous sporadic
Onset and clinical course incomplete penetrance childhood onset


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Chromosome 15q11-Q13 Duplication Syndrome

Genetics Home Reference : 25 15q11-q13 duplication syndrome (dup15q syndrome) is a developmental disorder; its signs and symptoms vary among affected individuals. Poor muscle tone (hypotonia) is common in individuals with dup15q syndrome and contributes to delayed development and impairment of motor skills, including sitting and walking. Most affected children develop the ability to walk independently after age 2 or 3, and they typically have a wide-based or uncoordinated (ataxic) pattern of walking (gait). Babies with dup15q syndrome often have trouble feeding due to weak facial muscles that impair sucking and swallowing. Intellectual disability also occurs in people with dup15q syndrome and can range from mild to profound; however, it is usually in the moderate to severe range. Speech and language development are particularly affected, with some individuals never developing functional speech. Most individuals with this disorder have autism spectrum disorder (ASD), and many have language problems associated with ASD such as repeating the words of others (echolalia) or repeating particular phrases (stereotypical utterances). Behavioral difficulties are also associated with dup15q syndrome, including other features of ASD such as difficulty with changes in routine and problems with social interaction. Affected individuals may also experience hyperactivity, anxiety, and frustration leading to tantrums. Mood disorders and psychosis occur in some affected individuals. More than half of people with dup15q syndrome have recurrent seizures (epilepsy). The seizures usually develop between the ages of 6 months and 9 years. Some people with dup15q syndrome have only focal seizures, which affect one part of the brain and usually do not cause a loss of consciousness. In other affected individuals, seizures begin with a type called infantile spasms (seizures that usually appear before the age of 1 and involve recurrent muscle contractions) and later include other types of seizures. In addition to focal seizures, these can include rapid uncontrolled muscle jerks (myotonic seizures); tonic-clonic (also called grand mal) seizures, which involve rigidity, convulsions, and loss of consciousness; and absence (also known as petit mal) seizures, which are brief episodes of impaired consciousness that look like staring spells. Affected individuals may develop complex, difficult-to-treat (intractable) seizure patterns such as Lennox-Gastaut syndrome. Seizures can lead to falls, loss of developmental milestones (developmental regression), and in a small minority of cases, sudden death during sleep (called sudden unexpected death in epilepsy, or SUDEP). Hearing loss in childhood is common in dup15q syndrome and usually results from ear infections that cause fluid buildup in the middle ear. This hearing loss is often temporary. However, if ear infections are left untreated during early childhood, the hearing loss can interfere with language development and worsen the speech problems associated with dup15q syndrome. About 30 percent of individuals with dup15q syndrome are born with eyes that do not look in the same direction (strabismus). Other unusual facial features that can occur in this condition include a low forehead; outside corners of the eyes that point downward (downslanting palpebral fissures); a flattened nasal bridge with a short, upturned nose; nostrils that open to the front rather than downward (anteverted nares); a long space between the nose and the upper lip (philtrum); a small lower jaw (micrognathia); a high-arched roof of the mouth (palate); full lips; low-set ears; and a flat back of the head (occiput). These features are typically subtle and may not be noticed during infancy. Other problems associated with dup15q syndrome in some affected individuals include a reduced ability to feel pain; a spine that curves to the side (scoliosis); recurrent respiratory infections in childhood; a skin condition called eczema; early (precocious) puberty and, in females, menstrual irregularities; minor genital abnormalities in males such as undescended testes (cryptorchidism); overeating; and excessive weight gain.

MalaCards based summary : Chromosome 15q11-Q13 Duplication Syndrome, also known as duplication 15q11-q13 syndrome, is related to angelman syndrome and prader-willi syndrome. An important gene associated with Chromosome 15q11-Q13 Duplication Syndrome is UBE3A (Ubiquitin Protein Ligase E3A). The drug Anticonvulsants has been mentioned in the context of this disorder. Affiliated tissues include eye, testes and brain, and related phenotypes are intellectual disability and global developmental delay

OMIM : 56 The features of the chromosome 15q11-q13 duplication syndrome include autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems (Bundey et al., 1994; Burnside et al., 2011). See also chromosome 15q13.3 deletion syndrome (612001) and chromosome 15q11.2 deletion syndrome (615656). For a discussion of genetic heterogeneity of autism, see 209850. (608636)

Related Diseases for Chromosome 15q11-Q13 Duplication Syndrome

Diseases related to Chromosome 15q11-Q13 Duplication Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 angelman syndrome 31.7 UBE3A ANCR
2 prader-willi syndrome 31.5 UBE3A ANCR
3 autism spectrum disorder 29.0 UBE3A AUTS2
4 isodicentric chromosome 15 syndrome 12.9
5 isodicentric 15 12.1
6 inverted duplicated chromosome 15 syndrome 11.5
7 chromosome 15q11.2 deletion syndrome 11.4
8 nondisjunction 10.4
9 47,xyy 10.4
10 male infertility 10.3
11 focal epilepsy 10.3
12 cleft lip 10.3
13 alacrima, achalasia, and mental retardation syndrome 10.2
14 15q duplication syndrome and related disorders 10.2
15 dowling-degos disease 1 10.2
16 telecanthus 10.2
17 down syndrome 10.2
18 albinism, oculocutaneous, type ii 10.2
19 retinitis pigmentosa 11 10.2
20 chromosome 15q13.3 deletion syndrome 10.2
21 oculocutaneous albinism 10.2
22 diaphragmatic eventration 10.2
23 hypospadias 10.2
24 46 xx gonadal dysgenesis 10.2
25 neuroleptic malignant syndrome 10.2
26 corneal dystrophy 10.2
27 holoprosencephaly 10.2
28 malignant hyperthermia 10.2
29 albinism 10.2
30 chromosomal triplication 10.2
31 precocious puberty 10.2
32 central precocious puberty 10.2
33 encephalopathy 10.2
34 cleft lip/palate 10.2
35 semilobar holoprosencephaly 10.2
36 maternal uniparental disomy 10.2
37 west syndrome 10.1
38 lennox-gastaut syndrome 10.1
39 visual epilepsy 10.1
40 amenorrhea 10.1
41 epilepsy 10.1
42 infertility 10.1
43 seizure disorder 10.1
44 autism 10.1
45 leukemia, acute lymphoblastic 10.1
46 status epilepticus 10.1
47 hypotonia 10.1
48 pervasive developmental disorder 9.5 UBE3A AUTS2

Graphical network of the top 20 diseases related to Chromosome 15q11-Q13 Duplication Syndrome:



Diseases related to Chromosome 15q11-Q13 Duplication Syndrome

Symptoms & Phenotypes for Chromosome 15q11-Q13 Duplication Syndrome

Human phenotypes related to Chromosome 15q11-Q13 Duplication Syndrome:

58 31 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
5 attention deficit hyperactivity disorder 58 31 hallmark (90%) Very frequent (99-80%) HP:0007018
6 obsessive-compulsive behavior 58 31 hallmark (90%) Very frequent (99-80%) HP:0000722
7 joint hypermobility 31 hallmark (90%) HP:0001382
8 autistic behavior 31 hallmark (90%) HP:0000729
9 generalized hypotonia 31 hallmark (90%) HP:0001290
10 drooling 31 hallmark (90%) HP:0002307
11 autism 58 31 frequent (33%) Frequent (79-30%) HP:0000717
12 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
13 apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0002186
14 eeg abnormality 31 frequent (33%) HP:0002353
15 stereotypy 31 frequent (33%) HP:0000733
16 feeding difficulties 31 frequent (33%) HP:0011968
17 hyperactivity 31 frequent (33%) HP:0000752
18 echolalia 31 frequent (33%) HP:0010529
19 self-biting 31 frequent (33%) HP:0012169
20 increased serum serotonin 31 frequent (33%) HP:0003144
21 severe expressive language delay 31 frequent (33%) HP:0006863
22 severe receptive language delay 31 frequent (33%) HP:0011352
23 seizure 31 frequent (33%) HP:0001250
24 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
25 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
26 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
27 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
28 mask-like facies 58 31 occasional (7.5%) Occasional (29-5%) HP:0000298
29 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
30 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692
31 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
32 abnormal facial shape 31 occasional (7.5%) HP:0001999
33 microcephaly 31 occasional (7.5%) HP:0000252
34 brachycephaly 31 occasional (7.5%) HP:0000248
35 strabismus 31 occasional (7.5%) HP:0000486
36 growth delay 31 occasional (7.5%) HP:0001510
37 high palate 31 occasional (7.5%) HP:0000218
38 brachydactyly 31 occasional (7.5%) HP:0001156
39 low-set, posteriorly rotated ears 31 occasional (7.5%) HP:0000368
40 deeply set eye 31 occasional (7.5%) HP:0000490
41 short philtrum 31 occasional (7.5%) HP:0000322
42 synophrys 31 occasional (7.5%) HP:0000664
43 hypogonadism 31 occasional (7.5%) HP:0000135
44 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
45 aggressive behavior 31 occasional (7.5%) HP:0000718
46 broad nasal tip 31 occasional (7.5%) HP:0000455
47 2-3 toe syndactyly 31 occasional (7.5%) HP:0004691
48 hernia 31 very rare (1%) HP:0100790
49 cryptorchidism 31 very rare (1%) HP:0000028
50 talipes equinovarus 31 very rare (1%) HP:0001762

Symptoms via clinical synopsis from OMIM:

56
Neurologic Behavioral Psychiatric Manifestations:
impaired social interactions
lack of spontaneous play
impaired ability to form peer relationships
inflexible adherence to routines or rituals
impaired use of nonverbal behaviors, such as eye-to-eye gaze, facial expression, body posture, and gestures
more
Laboratory Abnormalities:
increased serum serotonin in 25%

Neurologic Central Nervous System:
mental retardation in 75%
seizures in 15-30%
eeg abnormalities in 20-50%

Clinical features from OMIM:

608636

Drugs & Therapeutics for Chromosome 15q11-Q13 Duplication Syndrome

Drugs for Chromosome 15q11-Q13 Duplication Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anticonvulsants Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 2, Prospective, Interventional, Open-Label, Multi-Site, Extension Study to Assess the Long-Term Safety and Tolerability of TAK-935 (OV935) as Adjunctive Therapy in Patients With Rare Epilepsy Recruiting NCT03635073 Phase 2 TAK-935
2 A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy, Safety, and Tolerability of TAK-935 as an Adjunctive Therapy in Pediatric Patients With Developmental and/or Epileptic Encephalopathies Active, not recruiting NCT03650452 Phase 2 TAK-935;Placebo

Search NIH Clinical Center for Chromosome 15q11-Q13 Duplication Syndrome

Genetic Tests for Chromosome 15q11-Q13 Duplication Syndrome

Genetic tests related to Chromosome 15q11-Q13 Duplication Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 15q11-Q13 Duplication Syndrome 29
2 Duplication/inversion 15q11 29

Anatomical Context for Chromosome 15q11-Q13 Duplication Syndrome

MalaCards organs/tissues related to Chromosome 15q11-Q13 Duplication Syndrome:

40
Eye, Testes, Brain, Skin, Heart, Breast

Publications for Chromosome 15q11-Q13 Duplication Syndrome

Articles related to Chromosome 15q11-Q13 Duplication Syndrome:

(show all 30)
# Title Authors PMID Year
1
15q Duplication Syndrome and Related Disorders 6
27308687 2016
2
Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. 6
25190698 2014
3
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 6
23519317 2013
4
Phenotypic heterogeneity of genomic disorders and rare copy-number variants. 56
22970919 2012
5
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. 56
21792059 2011
6
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. 56
21359847 2011
7
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 56
21844811 2011
8
Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication. 56
20635369 2010
9
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. 6
20466091 2010
10
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. 56
19372089 2009
11
Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication. 56
19396834 2009
12
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. 56
18805830 2009
13
Population analysis of large copy number variants and hotspots of human genetic disease. 56
19166990 2009
14
No evidence for significant association between GABA receptor genes in chromosome 15q11-q13 and autism in a Japanese population. 56
17957331 2007
15
Trisomy 15q25.2-qter in an autistic child: genotype-phenotype correlations. 56
15666303 2005
16
Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment. 56
12749048 2003
17
Mitochondrial dysfunction in autistic patients with 15q inverted duplication. 56
12783428 2003
18
Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes. 56
12567325 2003
19
Three probands with autistic disorder and isodicentric chromosome 15. 56
10898916 2000
20
Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study. 56
10196369 1999
21
Autism and maternally derived aberrations of chromosome 15q. 56
9545097 1998
22
Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. 56
9106540 1997
23
Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation. 56
8669450 1996
24
Duplication of the 15q11-13 region in a patient with autism, epilepsy and ataxia. 56
8050626 1994
25
Brief report: duplication of chromosome 15q11-13 in two individuals with autistic disorder. 56
7961335 1994
26
Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome. 56
8326502 1993
27
Acute lymphoblastic leukemia in a nine-year-old girl with isodicentric chromosome 15 syndrome. 61
31155481 2019
28
Infantile spasms in a mosaic monocentric and duplicated SMC 15 patient. 61
29960745 2018
29
Mortality in isodicentric chromosome 15 syndrome: The role of SUDEP. 61
27218684 2016
30
Isodicentric Chromosome 15 Syndrome in a Korean Patient With Café-au-lait Spots. 61
26131425 2015

Variations for Chromosome 15q11-Q13 Duplication Syndrome

ClinVar genetic disease variations for Chromosome 15q11-Q13 Duplication Syndrome:

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 39 genes: MAGEL2 , SNURF , UBE3A GRCh37/hg19 15q11.1-13.2(chr15:20190548-30300265)copy number gain Pathogenic 625709 15:20190548-30300265
2 subset of 34 genes: MAGEL2 , SNURF , UBE3A GRCh37/hg19 15q11.1-13.1(chr15:20191652-28525310)copy number gain Pathogenic 625710 15:20191652-28525310
3 subset of 46 genes: MAGEL2 , SNURF , UBE3A GRCh37/hg19 15q11.2-13.3(chr15:22382860-32396457)copy number gain Pathogenic 625712 15:22382860-32396457
4 subset of 49 genes: MAGEL2 , SNURF , UBE3A GRCh37/hg19 15q11.2-13.3(chr15:22383299-32917689)copy number gain Pathogenic 625714 15:22383299-32917689
5 subset of 28 genes: MAGEL2 , SNURF , UBE3A GRCh37/hg19 15q11.2-13.1(chr15:22770994-28517432)copy number gain Pathogenic 625715 15:22770994-28517432
6 subset of 25 genes: MAGEL2 , SNURF , UBE3A GRCh37/hg19 15q11.2-13.1(chr15:23810184-29213896)copy number gain Pathogenic 625745 15:23810184-29213896
7 subset of 23 genes: MAGEL2 , SNURF , UBE3A GRCh37/hg19 15q11.2-13.1(chr15:23810397-28525505)copy number gain Pathogenic 625746 15:23810397-28525505
8 subset of 28 genes: MAGEL2 , SNURF , UBE3A GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182)copy number loss Pathogenic 625832 15:22816713-28530182
9 subset of 28 genes: MAGEL2 , SNURF , UBE3A GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182)copy number gain Pathogenic 625833 15:22816713-28530182
10 subset of 23 genes: MAGEL2 , SNURF , UBE3A duplication Pathogenic 666599 15:23810928-28544664
11 undetermined variant Pathogenic 236260
12 AUTS2 NM_015570.4(AUTS2):c.3169G>A (p.Gly1057Ser)SNV Uncertain significance 386816 rs1057522609 7:70255371-70255371 7:70790385-70790385

Expression for Chromosome 15q11-Q13 Duplication Syndrome

Search GEO for disease gene expression data for Chromosome 15q11-Q13 Duplication Syndrome.

Pathways for Chromosome 15q11-Q13 Duplication Syndrome

GO Terms for Chromosome 15q11-Q13 Duplication Syndrome

Sources for Chromosome 15q11-Q13 Duplication Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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