MCID: CHR590
MIFTS: 29

Chromosome 15q11-Q13 Duplication Syndrome

Categories: Fetal 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 58 30 6
Duplication 15q11-Q13 Syndrome 58 74
Isodicentric Chromosome 15 Syndrome 26
15q11q13 Microduplication Syndrome 60
15q11-Q13 Duplication Syndrome 26
15q11q13 Duplication Syndrome 60
Duplication/inversion 15q11 26
Isodicentric Chromosome 15 26
Non-Distal Tetrasomy 15q 26
Autism Susceptibility 4 58
Inverted Duplication 15 26
Trisomy 15q11q13 60
Dup15q Syndrome 26
Dup(15)(q11q13) 60
Inv Dup(15) 26
Idic(15) 26

Characteristics:

Orphanet epidemiological data:

60
15q11q13 microduplication syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
chromosome 15q11-q13 duplication syndrome:
Onset and clinical course incomplete penetrance childhood onset
Inheritance heterogeneous autosomal dominant inheritance multifactorial inheritance sporadic


Classifications:



Summaries for Chromosome 15q11-Q13 Duplication Syndrome

OMIM : 58 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)

MalaCards based summary : Chromosome 15q11-Q13 Duplication Syndrome, also known as duplication 15q11-q13 syndrome, is related to angelman syndrome and isodicentric chromosome 15 syndrome. An important gene associated with Chromosome 15q11-Q13 Duplication Syndrome is UBE3A (Ubiquitin Protein Ligase E3A). Affiliated tissues include eye and heart, and related phenotypes are intellectual disability and muscular hypotonia

Genetics Home Reference : 26 15q11-q13 duplication syndrome (dup15q syndrome) is a developmental disorder; its signs and symptoms vary among affected individuals.

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 15)
# Related Disease Score Top Affiliating Genes
1 angelman syndrome 31.3 ANCR UBE3A
2 isodicentric chromosome 15 syndrome 12.8
3 isodicentric 15 11.7
4 chromosome 15q11.2 deletion syndrome 11.4
5 prader-willi syndrome 11.3
6 autism 10.5
7 epilepsy 10.4
8 infertility 10.3
9 xq12-q13.3 duplication syndrome 10.2
10 holoprosencephaly 10.2
11 male infertility 10.2
12 autism spectrum disorder 10.2
13 neuroleptic malignant syndrome 10.2
14 semilobar holoprosencephaly 10.2
15 premature ovarian failure 1 10.1

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:

60 33 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
3 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
4 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
5 attention deficit hyperactivity disorder 60 33 hallmark (90%) Very frequent (99-80%) HP:0007018
6 obsessive-compulsive behavior 60 33 hallmark (90%) Very frequent (99-80%) HP:0000722
7 joint hypermobility 33 hallmark (90%) HP:0001382
8 generalized hypotonia 33 hallmark (90%) HP:0001290
9 autistic behavior 33 hallmark (90%) HP:0000729
10 drooling 33 hallmark (90%) HP:0002307
11 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
12 autism 60 33 frequent (33%) Frequent (79-30%) HP:0000717
13 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
14 apraxia 60 33 frequent (33%) Frequent (79-30%) HP:0002186
15 eeg abnormality 33 frequent (33%) HP:0002353
16 stereotypy 33 frequent (33%) HP:0000733
17 feeding difficulties 33 frequent (33%) HP:0011968
18 hyperactivity 33 frequent (33%) HP:0000752
19 severe expressive language delay 33 frequent (33%) HP:0006863
20 echolalia 33 frequent (33%) HP:0010529
21 severe receptive language delay 33 frequent (33%) HP:0011352
22 self-biting 33 frequent (33%) HP:0012169
23 increased serum serotonin 33 frequent (33%) HP:0003144
24 macrocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000256
25 finger syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0006101
26 ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001251
27 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
28 joint hyperflexibility 60 33 occasional (7.5%) Occasional (29-5%) HP:0005692
29 epicanthus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000286
30 mask-like facies 60 33 occasional (7.5%) Occasional (29-5%) HP:0000298
31 downslanted palpebral fissures 60 33 occasional (7.5%) Occasional (29-5%) HP:0000494
32 high palate 33 occasional (7.5%) HP:0000218
33 abnormal facial shape 33 occasional (7.5%) HP:0001999
34 microcephaly 33 occasional (7.5%) HP:0000252
35 brachycephaly 33 occasional (7.5%) HP:0000248
36 strabismus 33 occasional (7.5%) HP:0000486
37 growth delay 33 occasional (7.5%) HP:0001510
38 hypogonadism 33 occasional (7.5%) HP:0000135
39 short philtrum 33 occasional (7.5%) HP:0000322
40 deeply set eye 33 occasional (7.5%) HP:0000490
41 aggressive behavior 33 occasional (7.5%) HP:0000718
42 low-set, posteriorly rotated ears 33 occasional (7.5%) HP:0000368
43 brachydactyly 33 occasional (7.5%) HP:0001156
44 broad nasal tip 33 occasional (7.5%) HP:0000455
45 synophrys 33 occasional (7.5%) HP:0000664
46 abnormality of cardiovascular system morphology 33 occasional (7.5%) HP:0030680
47 2-3 toe syndactyly 33 occasional (7.5%) HP:0004691
48 precocious puberty 33 very rare (1%) HP:0000826
49 hernia 33 very rare (1%) HP:0100790
50 cryptorchidism 33 very rare (1%) HP:0000028

Symptoms via clinical synopsis from OMIM:

58
Neurologic Behavioral Psychiatric Manifestations:
impaired social interactions
impaired use of nonverbal behaviors, such as eye-to-eye gaze, facial expression, body posture, and gestures
impaired ability to form peer relationships
impaired language development
lack of spontaneous play
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

Search Clinical Trials , 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 30

Anatomical Context for Chromosome 15q11-Q13 Duplication Syndrome

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

42
Eye, Heart

Publications for Chromosome 15q11-Q13 Duplication Syndrome

Articles related to Chromosome 15q11-Q13 Duplication Syndrome:

# Title Authors Year
1
Mortality in isodicentric chromosome 15 syndrome: The role of SUDEP. ( 27218684 )
2016
2
Isodicentric Chromosome 15 Syndrome in a Korean Patient With Café-au-lait Spots. ( 26131425 )
2015

Variations for Chromosome 15q11-Q13 Duplication Syndrome

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

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 undetermined variant Pathogenic
2 AUTS2 NM_015570.3(AUTS2): c.3169G> A (p.Gly1057Ser) single nucleotide variant Uncertain significance rs1057522609 GRCh37 Chromosome 7, 70255371: 70255371
3 AUTS2 NM_015570.3(AUTS2): c.3169G> A (p.Gly1057Ser) single nucleotide variant Uncertain significance rs1057522609 GRCh38 Chromosome 7, 70790385: 70790385
4 subset of 39 genes:MAGEL2; SNURF; UBE3A GRCh37/hg19 15q11.1-13.2(chr15: 20190548-30300265) copy number gain Pathogenic GRCh37 Chromosome 15, 20190548: 30300265
5 subset of 34 genes:MAGEL2; SNURF; UBE3A GRCh37/hg19 15q11.1-13.1(chr15: 20191652-28525310) copy number gain Pathogenic GRCh37 Chromosome 15, 20191652: 28525310
6 subset of 46 genes:MAGEL2; SNURF; UBE3A GRCh37/hg19 15q11.2-13.3(chr15: 22382860-32396457) copy number gain Pathogenic GRCh37 Chromosome 15, 22382860: 32396457
7 subset of 49 genes:MAGEL2; SNURF; UBE3A GRCh37/hg19 15q11.2-13.3(chr15: 22383299-32917689) copy number gain Pathogenic GRCh37 Chromosome 15, 22383299: 32917689
8 subset of 28 genes:MAGEL2; SNURF; UBE3A GRCh37/hg19 15q11.2-13.1(chr15: 22770994-28517432) copy number gain Pathogenic GRCh37 Chromosome 15, 22770994: 28517432
9 subset of 25 genes:MAGEL2; SNURF; UBE3A GRCh37/hg19 15q11.2-13.1(chr15: 23810184-29213896) copy number gain Pathogenic GRCh37 Chromosome 15, 23810184: 29213896
10 subset of 23 genes:MAGEL2; SNURF; UBE3A GRCh37/hg19 15q11.2-13.1(chr15: 23810397-28525505) copy number gain Pathogenic GRCh37 Chromosome 15, 23810397: 28525505
11 subset of 28 genes:MAGEL2; SNURF; UBE3A GRCh37/hg19 15q11.2-13.1(chr15: 22816713-28530182) copy number loss Pathogenic GRCh37 Chromosome 15, 22816713: 28530182
12 subset of 28 genes:MAGEL2; SNURF; UBE3A GRCh37/hg19 15q11.2-13.1(chr15: 22816713-28530182) copy number gain Pathogenic GRCh37 Chromosome 15, 22816713: 28530182

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
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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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