MCID: 7Q1002
MIFTS: 33

7q11.23 Duplication Syndrome

Categories: Blood diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for 7q11.23 Duplication Syndrome

MalaCards integrated aliases for 7q11.23 Duplication Syndrome:

Name: 7q11.23 Duplication Syndrome 25 20 43
Williams-Beuren Region Duplication Syndrome 20 43 70
Chromosome 7q11.23 Duplication Syndrome 20 43
7q11.23 Microduplication Syndrome 20 43
Somerville-Van Der Aa Syndrome 20 43
Wbs Duplication Syndrome 20 43
Trisomy 7q11.23 20 43
Dup(7)(q11.23) 20 43
Chromosome 7q11.23 Duplication 43

Characteristics:

GeneReviews:

25
Penetrance Penetrance is complete in both males and females.

Classifications:



Summaries for 7q11.23 Duplication Syndrome

MedlinePlus Genetics : 43 7q11.23 duplication syndrome is a condition that can cause a variety of neurological and behavioral problems as well as other abnormalities.People with 7q11.23 duplication syndrome typically have delayed development of speech and motor skills such as crawling and walking. Speech problems and abnormalities in the way affected individuals walk and stand may persist throughout life. People with this condition may also have weak muscle tone (hypotonia) and abnormal movements, such as involuntary movements of one side of the body that mirror intentional movements of the other side. About one-fifth of people with 7q11.23 duplication syndrome experience seizures.Intellectual development varies widely in 7q11.23 duplication syndrome. The majority of people with this condition have low-average to average intelligence. Intellectual disability or borderline intellectual ability occur in about one-third of affected individuals. Rarely, people with this disorder have above-average intelligence.Behavioral problems associated with this condition include anxiety disorders (such as social phobias and selective mutism, which is an inability to speak in certain circumstances), attention-deficit/hyperactivity disorder (ADHD), physical aggression, excessively defiant behavior (oppositional disorder), and autistic behaviors that affect communication and social interaction.Approximately half of individuals with 7q11.23 duplication syndrome have enlargement (dilatation) of the blood vessel that carries blood from the heart to the rest of the body (the aorta); this enlargement can get worse over time. Aortic dilatation can lead to life-threatening complications if the wall of the aorta separates into layers (aortic dissection) or breaks open (ruptures).People with 7q11.23 duplication syndrome can have characteristic features of the head and face, including a large head (macrocephaly) that is flattened in the back (brachycephaly), a broad forehead, straight eyebrows, and deep-set eyes with long eyelashes. The nose may be broad at the tip with the area separating the nostrils attaching lower than usual on the face (low insertion of the columella), resulting in a shortened area between the nose and the upper lip (philtrum). A high arch in the roof of the mouth (high-arched palate) and ear abnormalities may also occur. These features may be mild and not recognized in some affected individuals.

MalaCards based summary : 7q11.23 Duplication Syndrome, also known as williams-beuren region duplication syndrome, is related to williams-beuren syndrome and williams-beuren region duplication syndrome. An important gene associated with 7q11.23 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

GARD : 20 7q11.23 duplication syndrome is a chromosome abnormality characterized by a variety of neurological and behavioral differences. It is caused by a small amount of additional (duplicated) genetic material from chromosome 7. Symptoms may include: motor, speech and language delay, behavior problems, intellectual disability, low muscle tone ( hypotonia ), an increased head circumference ( macrocephaly ), facial dysmorphism, seizures, brain abnormalities, and heart defects such as enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation). 7q11.23 duplication syndrome is caused by a duplication of genetic material on the long (q) arm of chromosome 7. Some cases of 7q11.23 duplication syndrome are inherited in an autosomal dominant manner; however, the majority of affected individuals have a new ( de novo ) duplication. While there is no cure for 7q11.23 duplication, treatment options will depend on the type and severity of symptoms present and may involve several specialists.

Wikipedia : 73 7q11.23 duplication syndrome (also called dup7 or Duplication of the Williams-Beuren Syndrome Critical... more...

GeneReviews: NBK327268

Related Diseases for 7q11.23 Duplication Syndrome

Graphical network of the top 20 diseases related to 7q11.23 Duplication Syndrome:



Diseases related to 7q11.23 Duplication Syndrome

Symptoms & Phenotypes for 7q11.23 Duplication Syndrome

Human phenotypes related to 7q11.23 Duplication Syndrome:

31 (show top 50) (show all 91)
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 31 hallmark (90%) HP:0000750
2 macrocephaly 31 frequent (33%) HP:0000256
3 high palate 31 frequent (33%) HP:0000218
4 dental malocclusion 31 frequent (33%) HP:0000689
5 intellectual disability, mild 31 frequent (33%) HP:0001256
6 brachycephaly 31 frequent (33%) HP:0000248
7 retrognathia 31 frequent (33%) HP:0000278
8 micrognathia 31 frequent (33%) HP:0000347
9 anxiety 31 frequent (33%) HP:0000739
10 motor delay 31 frequent (33%) HP:0001270
11 dolichocephaly 31 frequent (33%) HP:0000268
12 low-set, posteriorly rotated ears 31 frequent (33%) HP:0000368
13 thin upper lip vermilion 31 frequent (33%) HP:0000219
14 deeply set eye 31 frequent (33%) HP:0000490
15 ventriculomegaly 31 frequent (33%) HP:0002119
16 intellectual disability, moderate 31 frequent (33%) HP:0002342
17 short philtrum 31 frequent (33%) HP:0000322
18 broad forehead 31 frequent (33%) HP:0000337
19 dysmetria 31 frequent (33%) HP:0001310
20 congenital diaphragmatic hernia 31 frequent (33%) HP:0000776
21 craniosynostosis 31 frequent (33%) HP:0001363
22 cerebellar hypoplasia 31 frequent (33%) HP:0001321
23 long eyelashes 31 frequent (33%) HP:0000527
24 single transverse palmar crease 31 frequent (33%) HP:0000954
25 aortic aneurysm 31 frequent (33%) HP:0004942
26 hyperactivity 31 frequent (33%) HP:0000752
27 broad nasal tip 31 frequent (33%) HP:0000455
28 generalized hypotonia 31 frequent (33%) HP:0001290
29 unsteady gait 31 frequent (33%) HP:0002317
30 abnormality of the columella 31 frequent (33%) HP:0009929
31 diastema 31 frequent (33%) HP:0000699
32 chronic constipation 31 frequent (33%) HP:0012450
33 simplified gyral pattern 31 frequent (33%) HP:0009879
34 sleep disturbance 31 occasional (7.5%) HP:0002360
35 inguinal hernia 31 occasional (7.5%) HP:0000023
36 hypertelorism 31 occasional (7.5%) HP:0000316
37 chronic otitis media 31 occasional (7.5%) HP:0000389
38 short stature 31 occasional (7.5%) HP:0004322
39 stereotypy 31 occasional (7.5%) HP:0000733
40 intellectual disability, severe 31 occasional (7.5%) HP:0010864
41 cryptorchidism 31 occasional (7.5%) HP:0000028
42 obesity 31 occasional (7.5%) HP:0001513
43 joint hypermobility 31 occasional (7.5%) HP:0001382
44 overfolded helix 31 occasional (7.5%) HP:0000396
45 patent ductus arteriosus 31 occasional (7.5%) HP:0001643
46 high forehead 31 occasional (7.5%) HP:0000348
47 large earlobe 31 occasional (7.5%) HP:0009748
48 cutis marmorata 31 occasional (7.5%) HP:0000965
49 aggressive behavior 31 occasional (7.5%) HP:0000718
50 asymmetric crying face 31 occasional (7.5%) HP:0011333

Drugs & Therapeutics for 7q11.23 Duplication Syndrome

Search Clinical Trials , NIH Clinical Center for 7q11.23 Duplication Syndrome

Genetic Tests for 7q11.23 Duplication Syndrome

Anatomical Context for 7q11.23 Duplication Syndrome

MalaCards organs/tissues related to 7q11.23 Duplication Syndrome:

40
Heart, Eye, Uterus, T Cells, Temporal Lobe, Neutrophil

Publications for 7q11.23 Duplication Syndrome

Articles related to 7q11.23 Duplication Syndrome:

(show top 50) (show all 115)
# Title Authors PMID Year
1
Transcription Factor 2I Regulates Neuronal Development via TRPC3 in 7q11.23 Disorder Models. 61 25
30120731 2019
2
Autism Spectrum Symptomatology Among Children with Duplication 7q11.23 Syndrome. 25 61
29307037 2018
3
Phenotype of 7q11.23 duplication: A family clinical series. 25 61
27615053 2017
4
7q11.23 Duplication syndrome: Physical characteristics and natural history. 25 61
26333794 2015
5
Variation in the Williams syndrome GTF2I gene and anxiety proneness interactively affect prefrontal cortical response to aversive stimuli. 25 61
26285132 2015
6
Children with 7q11.23 duplication syndrome: psychological characteristics. 61 25
25900101 2015
7
Brief report: functional MRI of a patient with 7q11.23 duplication syndrome and autism spectrum disorder. 25 61
24722762 2014
8
Children with 7q11.23 Duplication Syndrome: Speech, Language, Cognitive, and Behavioral Characteristics and their Implications for Intervention. 25 61
22754604 2011
9
EZH2-mediated lncRNA ABHD11-AS1 promoter regulates the progression of ovarian cancer by targeting miR-133a-3p. 25
33491971 2021
10
7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling. 25
33187326 2020
11
High-throughput screening identifies histone deacetylase inhibitors that modulate GTF2I expression in 7q11.23 microduplication autism spectrum disorder patient-derived cortical neurons. 25
33208191 2020
12
Aortic Geometry in Patients with Duplication 7q11.23 Compared to Healthy Controls. 25
32474735 2020
13
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability. 25
32349160 2020
14
TFII-I/Gtf2i and Erythro-Megakaryopoiesis. 25
33101065 2020
15
ABHD11, a new diacylglycerol lipase involved in weight gain regulation. 25
32579589 2020
16
ABHD11 Is Critical for Embryonic Stem Cell Expansion, Differentiation and Lipid Metabolic Homeostasis. 25
32733886 2020
17
Cardiac mitochondrial function depends on BUD23 mediated ribosome programming. 25
31939735 2020
18
Loss of the ribosomal RNA methyltransferase NSUN5 impairs global protein synthesis and normal growth. 25
31722427 2019
19
Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication. 25
31840056 2019
20
Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioral and myelin alterations rescuable by a remyelinating drug. 25
31011227 2019
21
Interaction between hormone-sensitive lipase and ChREBP in fat cells controls insulin sensitivity. 25
32694809 2019
22
The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development. 25
30318146 2018
23
Activity of Genes with Functions in Human Williams-Beuren Syndrome Is Impacted by Mobile Element Insertions in the Gray Wolf Genome. 25
29860323 2018
24
7q11.23 microduplication syndrome: neurophysiological and neuroradiological insights into a rare chromosomal disorder. 25
29266505 2018
25
LncRNA ABHD11-AS1 promotes the development of endometrial carcinoma by targeting cyclin D1. 25
29799152 2018
26
Multifaceted regulation and functions of replication factor C family in human cancers. 25
30210909 2018
27
Role of the lncRNA ABHD11-AS1 in the tumorigenesis and progression of epithelial ovarian cancer through targeted regulation of RhoC. 25
28818073 2017
28
The 7q11.23 Microduplication Syndrome: A Clinical Report with Review of Literature. 25
27617154 2016
29
Familial 7q11.23 duplication with variable phenotype. 25
26109321 2015
30
ELN gene triplication responsible for familial supravalvular aortic aneurysm. 25
24932728 2015
31
Striatal long noncoding RNA Abhd11os is neuroprotective against an N-terminal fragment of mutant huntingtin in vivo. 25
25619660 2015
32
Aortopathy in the 7q11.23 microduplication syndrome. 25
25428557 2015
33
Methylation of ribosomal RNA by NSUN5 is a conserved mechanism modulating organismal lifespan. 25
25635753 2015
34
Cognitive-behavioral phenotypes of Williams syndrome are associated with genetic variation in the GTF2I gene, in a healthy population. 25
25429715 2014
35
Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome critical region: phenotypic expansion and review of the literature. 25
24844942 2014
36
TBL2 is a novel PERK-binding protein that modulates stress-signaling and cell survival during endoplasmic reticulum stress. 25
25393282 2014
37
Proteomic and bioinformatic analysis of mammalian SWI/SNF complexes identifies extensive roles in human malignancy. 25
23644491 2013
38
7q11.23 Microduplication: a recognizable phenotype. 25
22369319 2013
39
Recent progress on the role of ChREBP in glucose and lipid metabolism. 25
23604004 2013
40
The human WBSCR22 protein is involved in the biogenesis of the 40S ribosomal subunits in mammalian cells. 25
24086612 2013
41
Functional screening identifies miRNAs inducing cardiac regeneration. 25
23222520 2012
42
Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders. 25
22048961 2012
43
The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome. 25
22608712 2012
44
Duplication of GTF2I results in separation anxiety in mice and humans. 25
22578324 2012
45
Biochemistry and biology of the inducible multifunctional transcription factor TFII-I: 10 years later. 25
22037610 2012
46
A 7q11.23 microduplication patient with cerebral palsy and facial dysmorphism. 25
22876586 2012
47
Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome. 25
20425783 2010
48
A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms. 25
19752158 2010
49
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. 25
19249392 2009
50
Topology and regulation of the human eIF4A/4G/4H helicase complex in translation initiation. 25
19203580 2009

Variations for 7q11.23 Duplication Syndrome

Expression for 7q11.23 Duplication Syndrome

Search GEO for disease gene expression data for 7q11.23 Duplication Syndrome.

Pathways for 7q11.23 Duplication Syndrome

GO Terms for 7q11.23 Duplication Syndrome

Sources for 7q11.23 Duplication Syndrome

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10 dbSNP
11 DGIdb
17 EFO
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30 HMDB
31 HPO
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57 OMIM® (Updated 05-Apr-2021)
61 PubMed
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71 UMLS via Orphanet
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