MCID: WLL012
MIFTS: 27

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 70
Chromosome 7q11.23 Duplication Syndrome 57 13
7q11.23 Microduplication Syndrome 58
Somerville-Van Der Aa Syndrome 57
Wbs Duplication Syndrome 57
Trisomy 7q11.23 58
Dup(7)(q11.23) 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
williams-beuren region duplication syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


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) (Updated 05-Apr-2021)

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

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 15)
# Related Disease Score Top Affiliating Genes
1 7q11.23 duplication syndrome 11.7
2 distal 7q11.23 microduplication syndrome 11.2
3 williams-beuren syndrome 10.5
4 hypotonia 10.4
5 cryptorchidism, unilateral or bilateral 10.2
6 patent ductus arteriosus 1 10.2
7 familial isolated trichomegaly 10.1
8 attention deficit-hyperactivity disorder 10.1
9 supravalvular aortic stenosis 10.1
10 alacrima, achalasia, and mental retardation syndrome 10.1
11 autism spectrum disorder 10.1
12 mild cognitive impairment 10.1
13 teratoma 10.1
14 mutism 10.1
15 elective mutism 10.1

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:

58 31 (show top 50) (show all 105)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 Frequent (79-30%) HP:0000256
2 high palate 58 31 Frequent (79-30%) HP:0000218
3 hydrocephalus 58 31 Very rare (<4-1%) HP:0000238
4 chronic otitis media 58 31 Occasional (29-5%) HP:0000389
5 short stature 58 31 Occasional (29-5%) HP:0004322
6 brachycephaly 58 31 Frequent (79-30%) HP:0000248
7 cryptorchidism 58 31 Occasional (29-5%) HP:0000028
8 micrognathia 58 31 Frequent (79-30%) HP:0000347
9 anxiety 58 31 Frequent (79-30%) HP:0000739
10 overfolded helix 58 31 Occasional (29-5%) HP:0000396
11 patent ductus arteriosus 58 31 Occasional (29-5%) HP:0001643
12 hydronephrosis 58 31 Very rare (<4-1%) HP:0000126
13 deeply set eye 58 31 Frequent (79-30%) HP:0000490
14 ventriculomegaly 58 31 Frequent (79-30%) HP:0002119
15 short philtrum 58 31 Frequent (79-30%) HP:0000322
16 broad forehead 58 31 Frequent (79-30%) HP:0000337
17 high forehead 58 31 Occasional (29-5%) HP:0000348
18 cutis marmorata 58 31 Occasional (29-5%) HP:0000965
19 long eyelashes 58 31 Frequent (79-30%) HP:0000527
20 unilateral renal agenesis 58 31 Very rare (<4-1%) HP:0000122
21 broad nasal tip 58 31 Frequent (79-30%) HP:0000455
22 generalized hypotonia 58 31 Frequent (79-30%) HP:0001290
23 horizontal eyebrow 58 31 Occasional (29-5%) HP:0011228
24 diastema 58 31 Frequent (79-30%) HP:0000699
25 chronic constipation 58 31 Frequent (79-30%) HP:0012450
26 seizures 58 Occasional (29-5%)
27 sleep disturbance 58 Occasional (29-5%)
28 gait disturbance 31 HP:0001288
29 short neck 58 Very rare (<4-1%)
30 self-injurious behavior 58 Very rare (<4-1%)
31 hearing impairment 58 Very rare (<4-1%)
32 global developmental delay 31 HP:0001263
33 inguinal hernia 58 Occasional (29-5%)
34 hypertelorism 58 Occasional (29-5%)
35 dental malocclusion 58 Frequent (79-30%)
36 delayed speech and language development 58 Very frequent (99-80%)
37 pes planus 58 Very rare (<4-1%)
38 abnormal facial shape 58 Frequent (79-30%)
39 stereotypy 58 Occasional (29-5%)
40 intellectual disability, mild 58 Frequent (79-30%)
41 intellectual disability, severe 58 Occasional (29-5%)
42 strabismus 58 Very rare (<4-1%)
43 attention deficit hyperactivity disorder 31 HP:0007018
44 growth delay 58 Occasional (29-5%)
45 cubitus valgus 58 Very rare (<4-1%)
46 retrognathia 58 Frequent (79-30%)
47 obesity 58 Occasional (29-5%)
48 pectus excavatum 58 Very rare (<4-1%)
49 atrial septal defect 58 Very rare (<4-1%)
50 motor delay 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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:

40
Eye, Uterus, Temporal Lobe

Publications for Williams-Beuren Region Duplication Syndrome

Articles related to Williams-Beuren Region Duplication Syndrome:

(show all 19)
# Title Authors PMID Year
1
7q11.23 Duplication syndrome: Physical characteristics and natural history. 57
26333794 2015
2
Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23. 57
26166478 2015
3
Duplication of GTF2I results in separation anxiety in mice and humans. 57
22578324 2012
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
Rare de novo and transmitted copy-number variation in autistic spectrum disorders. 57
21658582 2011
6
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. 57
21658581 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. 57
19752158 2010
8
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. 57
19249392 2009
9
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion. 57
18337728 2008
10
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. 57
17666889 2007
11
Autism, language delay and mental retardation in a patient with 7q11 duplication. 57
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. 57
17075606 2007
13
Severe expressive-language delay related to duplication of the Williams-Beuren locus. 57
16236740 2005
14
[Clinical analysis of five cases of autism spectrum disorder complicated with epilepsy with chromosome copy number variation]. 61
31510723 2019
15
Elastin-driven genetic diseases. 61
29501665 2018
16
Chromosome 7q11.23 duplication syndrome presenting as neuropsychiatric regression in late adolescence: A new manifestation of a new syndrome? 61
29466866 2018
17
Distal 7q11.23 Duplication, an Emerging Microduplication Syndrome: A Case Report and Further Characterisation. 61
27867344 2016
18
[Chromosome 7q11.23 duplication syndrome. First reported case in Latin America]. 61
26914082 2016
19
Using iPSCs and genomics to catch CNVs in the act. 61
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
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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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