MCID: WLL012
MIFTS: 26

Williams-Beuren Region Duplication Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Williams-Beuren Region Duplication Syndrome

MalaCards integrated aliases for Williams-Beuren Region Duplication Syndrome:

Name: Williams-Beuren Region Duplication Syndrome 57 29 72
Chromosome 7q11.23 Duplication Syndrome 57 13
7q11.23 Microduplication Syndrome 59
Somerville-Van Der Aa Syndrome 57
Wbs Duplication Syndrome 57
Trisomy 7q11.23 59
Dup(7)(q11.23) 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene deletion syndrome
estimated population frequency of 1 in 13,000-20,000
based on review of 53 individuals aged 1.2-21.25 years and 11 affected adults (last curated february 2016)


HPO:

32
williams-beuren region duplication syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 609757
ICD10 via Orphanet 34 Q92.3
UMLS via Orphanet 73 C1857844
Orphanet 59 ORPHA96121
MedGen 42 C1857844
UMLS 72 C1857844

Summaries for Williams-Beuren Region Duplication Syndrome

OMIM : 57 The chromosome 7q11.23 duplication syndrome is a multisystem developmental disorder with variable manifestations, most commonly speech delay and mild craniofacial anomalies, and an increased incidence of congenital anomalies such as heart defects, diaphragmatic hernia, and cryptorchidism. Many patients have cognitive defects ranging from mental retardation to autism, although some have normal cognitive abilities (summary by Van der Aa et al., 2009). (609757)

MalaCards based summary : Williams-Beuren Region Duplication Syndrome, also known as chromosome 7q11.23 duplication syndrome, is related to distal 7q11.23 microduplication syndrome and 7q11.23 duplication syndrome. An important gene associated with Williams-Beuren Region Duplication Syndrome is DUP7Q11.23 (Chromosome 7q11.23 Duplication Syndrome). Affiliated tissues include heart, eye and uterus, and related phenotypes are delayed speech and language development and macrocephaly

Related Diseases for Williams-Beuren Region Duplication Syndrome

Diseases related to Williams-Beuren Region Duplication Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 distal 7q11.23 microduplication syndrome 12.5
2 7q11.23 duplication syndrome 12.0
3 williams-beuren syndrome 10.5
4 hypotonia 10.4
5 attention deficit-hyperactivity disorder 10.2
6 supravalvular aortic stenosis 10.2
7 autism 10.2
8 cryptorchidism, unilateral or bilateral 10.2
9 hydrocephalus, congenital, 1 10.2
10 patent ductus arteriosus 1 10.2
11 alacrima, achalasia, and mental retardation syndrome 10.2
12 autism spectrum disorder 10.2
13 mutism 10.2
14 elective mutism 10.2

Graphical network of the top 20 diseases related to Williams-Beuren Region Duplication Syndrome:



Diseases related to Williams-Beuren Region Duplication Syndrome

Symptoms & Phenotypes for Williams-Beuren Region Duplication Syndrome

Human phenotypes related to Williams-Beuren Region Duplication Syndrome:

59 32 (show top 50) (show all 106)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
2 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
3 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
4 dental malocclusion 59 32 frequent (33%) Frequent (79-30%) HP:0000689
5 intellectual disability, mild 59 32 frequent (33%) Frequent (79-30%) HP:0001256
6 brachycephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000248
7 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
8 dolichocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000268
9 short philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000322
10 broad nasal tip 59 32 frequent (33%) Frequent (79-30%) HP:0000455
11 hyperactivity 59 32 frequent (33%) Frequent (79-30%) HP:0000752
12 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
13 retrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000278
14 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
15 dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0001310
16 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
17 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
18 broad forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000337
19 cerebellar hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001321
20 intellectual disability, moderate 59 32 frequent (33%) Frequent (79-30%) HP:0002342
21 deeply set eye 59 32 frequent (33%) Frequent (79-30%) HP:0000490
22 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
23 thin upper lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000219
24 congenital diaphragmatic hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000776
25 craniosynostosis 59 32 frequent (33%) Frequent (79-30%) HP:0001363
26 long eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0000527
27 single transverse palmar crease 59 32 frequent (33%) Frequent (79-30%) HP:0000954
28 unsteady gait 59 32 frequent (33%) Frequent (79-30%) HP:0002317
29 abnormality of the columella 59 32 frequent (33%) Frequent (79-30%) HP:0009929
30 chronic constipation 59 32 frequent (33%) Frequent (79-30%) HP:0012450
31 diastema 59 32 frequent (33%) Frequent (79-30%) HP:0000699
32 aortic aneurysm 32 frequent (33%) HP:0004942
33 simplified gyral pattern 32 frequent (33%) HP:0009879
34 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
35 obesity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001513
36 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
37 sleep disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0002360
38 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
39 chronic otitis media 59 32 occasional (7.5%) Occasional (29-5%) HP:0000389
40 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
41 stereotypy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000733
42 intellectual disability, severe 59 32 occasional (7.5%) Occasional (29-5%) HP:0010864
43 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
44 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
45 impaired social interactions 59 32 occasional (7.5%) Occasional (29-5%) HP:0000735
46 aggressive behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000718
47 overfolded helix 59 32 occasional (7.5%) Occasional (29-5%) HP:0000396
48 joint hypermobility 59 32 occasional (7.5%) Occasional (29-5%) HP:0001382
49 high forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0000348
50 polyphagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002591

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ventriculomegaly
cerebellar vermis hypoplasia
developmental delay
thin corpus callosum
posterior fossa cysts
more
Genitourinary Internal Genitalia Male:
cryptorchidism (rare)

Head And Neck Head:
macrocephaly (50%)
brachycephaly (65%)
normal cranial shape (27%)

Head And Neck Ears:
normal ears (38%)
overfolded helix (42%)
lateral protrusion (17%)
posterior rotation (10%)
chronic otitis media (25%)

Head And Neck Nose:
broad nasal tip (77%)
columella abnormalities (78%)

Head And Neck Teeth:
diastema (31%)

Abdomen Gastrointestinal:
chronic constipation (66%)

Skin Nails Hair Skin:
cutis marmorata (45%)

Endocrine Features:
growth hormone deficiency (9%)

Genitourinary Kidneys:
hydronephrosis (rare)
unilateral renal agenesis (rare)

Growth Height:
short stature (17%)

Head And Neck Face:
broad forehead (63%)
high forehead (20%)
facial asymmetry (84%)
short philtrum (58%)

Head And Neck Eyes:
straight eyebrows (20%)
deep-set eyes (45%)
long eyelashes (45%)

Head And Neck Mouth:
micrognathia (30%)
high-arched palate (44%)

Cardiovascular Vascular:
patent ductus arteriosus (15%)
aortic dilation (46%)

Genitourinary Internal Genitalia Female:
mullerian agenesis (rare)

Neurologic Behavioral Psychiatric Manifestations:
anxiety (72%)
attention deficit hyperactivity disorder (adhd, 37%)
autism spectrum disorder (asd, 19%)
high pain tolerance (26%)

Clinical features from OMIM:

609757

Drugs & Therapeutics for Williams-Beuren Region Duplication Syndrome

Search Clinical Trials , NIH Clinical Center for Williams-Beuren Region Duplication Syndrome

Genetic Tests for Williams-Beuren Region Duplication Syndrome

Genetic tests related to Williams-Beuren Region Duplication Syndrome:

# Genetic test Affiliating Genes
1 Williams-Beuren Region Duplication Syndrome 29

Anatomical Context for Williams-Beuren Region Duplication Syndrome

MalaCards organs/tissues related to Williams-Beuren Region Duplication Syndrome:

41
Heart, Eye, Uterus, Temporal Lobe

Publications for Williams-Beuren Region Duplication Syndrome

Articles related to Williams-Beuren Region Duplication Syndrome:

(show all 18)
# Title Authors PMID Year
1
7q11.23 Duplication syndrome: Physical characteristics and natural history. 8
26333794 2015
2
Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23. 8
26166478 2015
3
Duplication of GTF2I results in separation anxiety in mice and humans. 8
22578324 2012
4
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 8
21844811 2011
5
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. 8
21658581 2011
6
Rare de novo and transmitted copy-number variation in autistic spectrum disorders. 8
21658582 2011
7
A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms. 8
19752158 2010
8
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. 8
19249392 2009
9
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion. 8
18337728 2008
10
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. 8
17666889 2007
11
Autism, language delay and mental retardation in a patient with 7q11 duplication. 8
17400790 2007
12
Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus. 8
17075606 2007
13
Severe expressive-language delay related to duplication of the Williams-Beuren locus. 8
16236740 2005
14
Elastin-driven genetic diseases. 38
29501665 2018
15
Chromosome 7q11.23 duplication syndrome presenting as neuropsychiatric regression in late adolescence: A new manifestation of a new syndrome? 38
29466866 2018
16
Distal 7q11.23 Duplication, an Emerging Microduplication Syndrome: A Case Report and Further Characterisation. 38
27867344 2016
17
[Chromosome 7q11.23 duplication syndrome. First reported case in Latin America]. 38
26914082 2016
18
Using iPSCs and genomics to catch CNVs in the act. 38
25627897 2015

Variations for Williams-Beuren Region Duplication Syndrome

Expression for Williams-Beuren Region Duplication Syndrome

Search GEO for disease gene expression data for Williams-Beuren Region Duplication Syndrome.

Pathways for Williams-Beuren Region Duplication Syndrome

GO Terms for Williams-Beuren Region Duplication Syndrome

Sources for Williams-Beuren Region Duplication Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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