MCID: CHR590
MIFTS: 36

Chromosome 15q11-Q13 Duplication Syndrome

Categories: Ear diseases, 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 57 29 6
Duplication 15q11-Q13 Syndrome 57 71
Autism Susceptibility 4 57 13
Isodicentric Chromosome 15 Syndrome 43
15q11q13 Microduplication Syndrome 58
15q11-Q13 Duplication Syndrome 43
15q11q13 Duplication Syndrome 58
Duplication/inversion 15q11 43
Isodicentric Chromosome 15 43
Non-Distal Tetrasomy 15q 43
Inverted Duplication 15 43
Trisomy 15q11q13 58
Dup15q Syndrome 43
Dup(15)(q11q13) 58
Inv Dup(15) 43
Idic(15) 43

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Mar-2021)
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

MedlinePlus Genetics : 43 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 ATP10A (ATPase Phospholipid Transporting 10A (Putative)). Affiliated tissues include testes, eye and heart, and related phenotypes are intellectual disability and global developmental delay

OMIM® : 57 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) (Updated 05-Mar-2021)

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 top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 angelman syndrome 31.3 UBE3A ATP10A ANCR
2 prader-willi syndrome 31.2 UBE3A ATP10A ANCR
3 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 29.8 AUTS2 ATP10A
4 autism 29.3 UBE3A AUTS2 ATP10A
5 autism spectrum disorder 28.8 UBE3A AUTS2 ATP10A
6 isodicentric chromosome 15 syndrome 11.8
7 isodicentric 15 11.4
8 chromosome 15q11.2 deletion syndrome 11.4
9 inverted duplicated chromosome 15 syndrome 11.3
10 nondisjunction 10.3
11 47,xyy 10.3
12 retinitis pigmentosa 11 10.2
13 male infertility 10.2
14 focal epilepsy 10.2
15 infertility 10.2
16 cleft lip 10.2
17 alacrima, achalasia, and mental retardation syndrome 10.2
18 dowling-degos disease 1 10.1
19 telecanthus 10.1
20 down syndrome 10.1
21 albinism, oculocutaneous, type ii 10.1
22 chromosome 15q13.3 deletion syndrome 10.1
23 oculocutaneous albinism 10.1
24 diaphragmatic eventration 10.1
25 hypospadias 10.1
26 acute contagious conjunctivitis 10.1
27 46 xx gonadal dysgenesis 10.1
28 neuroleptic malignant syndrome 10.1
29 corneal dystrophy 10.1
30 holoprosencephaly 10.1
31 malignant hyperthermia 10.1
32 albinism 10.1
33 chromosomal triplication 10.1
34 precocious puberty 10.1
35 central precocious puberty 10.1
36 encephalopathy 10.1
37 cleft lip/palate 10.1
38 semilobar holoprosencephaly 10.1
39 maternal uniparental disomy 10.1
40 leukemia, acute lymphoblastic 10.1
41 leukemia 10.1
42 status epilepticus 10.1
43 hypotonia 10.1
44 15q duplication syndrome and related disorders 10.1
45 seizure disorder 10.1
46 west syndrome 9.9
47 lennox-gastaut syndrome 9.9
48 premature menopause 9.9
49 amenorrhea 9.9
50 epilepsy 9.9

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 all 30)
# 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 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
4 attention deficit hyperactivity disorder 58 31 hallmark (90%) Very frequent (99-80%) HP:0007018
5 obsessive-compulsive behavior 58 31 hallmark (90%) Very frequent (99-80%) HP:0000722
6 hypotonia 31 hallmark (90%) HP:0001252
7 autism 58 31 frequent (33%) Frequent (79-30%) HP:0000717
8 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
9 apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0002186
10 eeg abnormality 31 frequent (33%) HP:0002353
11 increased serum serotonin 31 frequent (33%) HP:0003144
12 seizure 31 frequent (33%) HP:0001250
13 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
14 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
15 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
16 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
17 mask-like facies 58 31 occasional (7.5%) Occasional (29-5%) HP:0000298
18 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
19 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692
20 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
21 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
22 seizures 58 Frequent (79-30%)
23 muscular hypotonia 58 Very frequent (99-80%)
24 stereotypy 31 HP:0000733
25 malformation of the heart and great vessels 58 Occasional (29-5%)
26 impaired use of nonverbal behaviors 31 HP:0000758
27 restrictive behavior 31 HP:0000723
28 lack of spontaneous play 31 HP:0000721
29 impaired ability to form peer relationships 31 HP:0000728
30 inflexible adherence to routines or rituals 31 HP:0000732

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Chromosome 15q11-Q13 Duplication Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.17 ATP10A
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 9.17 ATP10A
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-175 9.17 UBE3A
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-2 9.17 ATP10A UBE3A
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.17 ATP10A
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-70 9.17 UBE3A

Drugs & Therapeutics for Chromosome 15q11-Q13 Duplication Syndrome

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

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

Anatomical Context for Chromosome 15q11-Q13 Duplication Syndrome

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

40
Testes, Eye, Heart

Publications for Chromosome 15q11-Q13 Duplication Syndrome

Articles related to Chromosome 15q11-Q13 Duplication Syndrome:

(show all 26)
# Title Authors PMID Year
1
Phenotypic heterogeneity of genomic disorders and rare copy-number variants. 57
22970919 2012
2
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. 57
21792059 2011
3
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. 57
21359847 2011
4
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 57
21844811 2011
5
Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication. 57
20635369 2010
6
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. 57
19372089 2009
7
Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication. 57
19396834 2009
8
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. 57
18805830 2009
9
Population analysis of large copy number variants and hotspots of human genetic disease. 57
19166990 2009
10
No evidence for significant association between GABA receptor genes in chromosome 15q11-q13 and autism in a Japanese population. 57
17957331 2007
11
Trisomy 15q25.2-qter in an autistic child: genotype-phenotype correlations. 57
15666303 2005
12
Mitochondrial dysfunction in autistic patients with 15q inverted duplication. 57
12783428 2003
13
Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment. 57
12749048 2003
14
Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes. 57
12567325 2003
15
Three probands with autistic disorder and isodicentric chromosome 15. 57
10898916 2000
16
Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study. 57
10196369 1999
17
Autism and maternally derived aberrations of chromosome 15q. 57
9545097 1998
18
Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. 57
9106540 1997
19
Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation. 57
8669450 1996
20
Brief report: duplication of chromosome 15q11-13 in two individuals with autistic disorder. 57
7961335 1994
21
Duplication of the 15q11-13 region in a patient with autism, epilepsy and ataxia. 57
8050626 1994
22
Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome. 57
8326502 1993
23
Acute lymphoblastic leukemia in a nine-year-old girl with isodicentric chromosome 15 syndrome. 61
31155481 2019
24
Infantile spasms in a mosaic monocentric and duplicated SMC 15 patient. 61
29960745 2018
25
Mortality in isodicentric chromosome 15 syndrome: The role of SUDEP. 61
27218684 2016
26
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
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATP10A GRCh37/hg19 15q11.2-13.1(chr15:23810184-29213896) copy number gain Pathogenic 625745 15:23810184-29213896
2 ATP10A GRCh37/hg19 15q11.2-13.1(chr15:23810397-28525505) copy number gain Pathogenic 625746 15:23810397-28525505
3 ATP10A GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182) copy number gain Pathogenic 625833 15:22816713-28530182
4 ATP10A Duplication Pathogenic 666599 15:23810928-28544664
5 ATP10A GRCh37/hg19 15q11.2-13.1(chr15:22770994-28517432) copy number gain Pathogenic 625715 15:22770994-28517432
6 ATP10A GRCh37/hg19 15q11.2-13.3(chr15:22383299-32917689) copy number gain Pathogenic 625714 15:22383299-32917689
7 ATP10A GRCh37/hg19 15q11.2-13.3(chr15:22382860-32396457) copy number gain Pathogenic 625712 15:22382860-32396457
8 ATP10A GRCh37/hg19 15q11.1-13.1(chr15:20191652-28525310) copy number gain Pathogenic 625710 15:20191652-28525310
9 ATP10A GRCh37/hg19 15q11.1-13.2(chr15:20190548-30300265) copy number gain Pathogenic 625709 15:20190548-30300265
10 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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