MCID: CHR590
MIFTS: 25

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 57 29 6
Duplication 15q11-Q13 Syndrome 57 73
Autism Susceptibility 4 57 13
15q11-Q13 Microduplication Syndrome 59
15q11q13 Microduplication Syndrome 59
15q11-Q13 Duplication Syndrome 59
15q11q13 Duplication Syndrome 59
Trisomy 15q11-Q13 59
Trisomy 15q11q13 59
Dup(15)(q11q13) 59

Characteristics:

Orphanet epidemiological data:

59
15q11q13 microduplication syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
chromosome 15q11-q13 duplication syndrome:
Onset and clinical course incomplete penetrance childhood onset
Inheritance heterogeneous autosomal dominant inheritance sporadic multifactorial inheritance


Classifications:



Summaries for Chromosome 15q11-Q13 Duplication Syndrome

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)

MalaCards based summary : Chromosome 15q11-Q13 Duplication Syndrome, also known as duplication 15q11-q13 syndrome, is related to angelman syndrome and chromosome 15q11.2 deletion 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 macrocephaly and finger syndactyly

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:

# Related Disease Score Top Affiliating Genes
1 angelman syndrome 31.5 ANCR UBE3A
2 chromosome 15q11.2 deletion syndrome 11.4
3 prader-willi syndrome 11.3

Symptoms & Phenotypes for Chromosome 15q11-Q13 Duplication Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
2 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
5 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
6 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
7 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
8 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
9 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
10 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
11 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
12 autism 59 32 frequent (33%) Frequent (79-30%) HP:0000717
13 attention deficit hyperactivity disorder 59 32 hallmark (90%) Very frequent (99-80%) HP:0007018
14 mask-like facies 59 32 occasional (7.5%) Occasional (29-5%) HP:0000298
15 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
16 apraxia 59 32 frequent (33%) Frequent (79-30%) HP:0002186
17 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
18 obsessive-compulsive behavior 59 32 hallmark (90%) Very frequent (99-80%) HP:0000722
19 eeg abnormality 32 frequent (33%) HP:0002353
20 stereotypy 32 HP:0000733
21 malformation of the heart and great vessels 59 Occasional (29-5%)
22 impaired use of nonverbal behaviors 32 HP:0000758
23 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
24 restrictive behavior 32 HP:0000723
25 increased serum serotonin 32 frequent (33%) HP:0003144
26 impaired ability to form peer relationships 32 HP:0000728
27 lack of spontaneous play 32 HP:0000721
28 inflexible adherence to routines or rituals 32 HP:0000732

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 29

Anatomical Context for Chromosome 15q11-Q13 Duplication Syndrome

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

41
Eye, Heart

Publications for Chromosome 15q11-Q13 Duplication Syndrome

Variations for Chromosome 15q11-Q13 Duplication Syndrome

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AUTS2 NM_015570.3(AUTS2): c.3169G> A (p.Gly1057Ser) single nucleotide variant Uncertain significance rs1057522609 GRCh37 Chromosome 7, 70255371: 70255371
2 AUTS2 NM_015570.3(AUTS2): c.3169G> A (p.Gly1057Ser) single nucleotide variant Uncertain significance rs1057522609 GRCh38 Chromosome 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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