MCID: 7Q1002
MIFTS: 23

7q11.23 Duplication Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for 7q11.23 Duplication Syndrome

MalaCards integrated aliases for 7q11.23 Duplication Syndrome:

Name: 7q11.23 Duplication Syndrome 24 53 25
Williams-Beuren Region Duplication Syndrome 53 25 73
Chromosome 7q11.23 Duplication Syndrome 53 25
7q11.23 Microduplication Syndrome 53 25
Somerville-Van Der Aa Syndrome 53 25
Wbs Duplication Syndrome 53 25
Trisomy 7q11.23 53 25
Dup(7)(q11.23) 53 25
Chromosome 7q11.23 Duplication 25

Characteristics:

GeneReviews:

24
Penetrance Penetrance is complete and is the same for males and females. expression of phenotypic features is variable...

Classifications:



Summaries for 7q11.23 Duplication Syndrome

NIH Rare Diseases : 53 7q11.23 duplicationsyndrome 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.

MalaCards based summary : 7q11.23 Duplication Syndrome, also known as williams-beuren region duplication syndrome, is related to williams-beuren syndrome and distal 7q11.23 microduplication syndrome. An important gene associated with 7q11.23 Duplication Syndrome is DUP7Q11.23 (Chromosome 7q11.23 Duplication Syndrome). Affiliated tissues include brain and heart, and related phenotypes are intellectual disability and delayed speech and language development

Genetics Home Reference : 25 7q11.23 duplication syndrome is a condition that can cause a variety of neurological and behavioral problems as well as other abnormalities.

GeneReviews: NBK327268

Related Diseases for 7q11.23 Duplication Syndrome

Diseases related to 7q11.23 Duplication Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 williams-beuren syndrome 29.2 LOC106029311 LOC106029312 LOC106029313
2 distal 7q11.23 microduplication syndrome 12.3
3 williams-beuren region duplication syndrome 12.1
4 autism 10.1
5 autism spectrum disorder 10.1

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:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 delayed speech and language development 32 HP:0000750
3 short attention span 32 HP:0000736

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:

41
Brain, Heart

Publications for 7q11.23 Duplication Syndrome

Articles related to 7q11.23 Duplication Syndrome:

# Title Authors Year
1
Chromosome 7q11.23 duplication syndrome presenting as neuropsychiatric regression in late adolescence: A new manifestation of a new syndrome? ( 29466866 )
2018
2
A method for determining haploid and triploid genotypes and their association with vascular phenotypes in Williams syndrome and 7q11.23 duplication syndrome. ( 29614955 )
2018
3
Children with 7q11.23 duplication syndrome: psychological characteristics. ( 25900101 )
2015
4
7q11.23 Duplication syndrome: Physical characteristics and natural history. ( 26333794 )
2015
5
Brief report: functional MRI of a patient with 7q11.23 duplication syndrome and autism spectrum disorder. ( 24722762 )
2014
6
Children with 7q11.23 Duplication Syndrome: Speech, Language, Cognitive, and Behavioral Characteristics and their Implications for Intervention. ( 22754604 )
2011

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

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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