MCID: 7Q1002
MIFTS: 28

7q11.23 Duplication Syndrome

Categories: Rare diseases

Aliases & Classifications for 7q11.23 Duplication Syndrome

MalaCards integrated aliases for 7q11.23 Duplication Syndrome:

Name: 7q11.23 Duplication Syndrome 23 50 25
Williams-Beuren Region Duplication Syndrome 50 25 69
Chromosome 7q11.23 Duplication Syndrome 50 25 13
7q11.23 Microduplication Syndrome 50 25
Somerville-Van Der Aa Syndrome 50 25
Wbs Duplication Syndrome 50 25
Trisomy 7q11.23 50 25
Dup(7)(q11.23) 50 25
Chromosome 7q11.23 Duplication 25

Characteristics:

GeneReviews:

23
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 : 50 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: a speech and language delay, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), and 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. last updated: 7/5/2016

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

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:

id Related Disease Score Top Affiliating Genes
1 distal 7q11.23 microduplication syndrome 12.0
2 williams-beuren region duplication syndrome 11.0
3 autism spectrum disorder 9.8
4 pontocerebellar hypoplasia, type 3 8.9 LOC106029311 LOC106029312 LOC106029313
5 16p11.2 recurrent microdeletion 8.0 DUP7Q11.23 LOC106029311 LOC106029312 LOC106029313

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 (show top 50) (show all 68)
id Description HPO Frequency HPO Source Accession
1 short attention span 32 HP:0000736
2 delayed speech and language development 32 frequent (33%) HP:0000750
3 intellectual disability 32 HP:0001249
4 inguinal hernia 32 occasional (7.5%) HP:0000023
5 cryptorchidism 32 very rare (1%) HP:0000028
6 hypospadias 32 very rare (1%) HP:0000047
7 unilateral renal agenesis 32 very rare (1%) HP:0000122
8 hydronephrosis 32 very rare (1%) HP:0000126
9 short lingual frenulum 32 occasional (7.5%) HP:0000200
10 high palate 32 frequent (33%) HP:0000218
11 thin vermilion border 32 occasional (7.5%) HP:0000233
12 hydrocephalus 32 very rare (1%) HP:0000238
13 brachycephaly 32 frequent (33%) HP:0000248
14 macrocephaly 32 frequent (33%) HP:0000256
15 dolichocephaly 32 frequent (33%) HP:0000268
16 retrognathia 32 frequent (33%) HP:0000278
17 hypertelorism 32 occasional (7.5%) HP:0000316
18 short philtrum 32 frequent (33%) HP:0000322
19 broad forehead 32 frequent (33%) HP:0000337
20 micrognathia 32 frequent (33%) HP:0000347
21 abnormality of earlobe 32 frequent (33%) HP:0000363
22 hearing impairment 32 very rare (1%) HP:0000365
23 low-set, posteriorly rotated ears 32 frequent (33%) HP:0000368
24 chronic otitis media 32 occasional (7.5%) HP:0000389
25 broad nasal tip 32 frequent (33%) HP:0000455
26 deeply set eye 32 frequent (33%) HP:0000490
27 long eyelashes 32 frequent (33%) HP:0000527
28 esotropia 32 occasional (7.5%) HP:0000565
29 exotropia 32 very rare (1%) HP:0000577
30 dental malocclusion 32 frequent (33%) HP:0000689
31 diastema 32 frequent (33%) HP:0000699
32 aggressive behavior 32 occasional (7.5%) HP:0000718
33 stereotypy 32 occasional (7.5%) HP:0000733
34 hyperactivity 32 occasional (7.5%) HP:0000752
35 autism with high cognitive abilities 32 frequent (33%) HP:0000753
36 pectus excavatum 32 very rare (1%) HP:0000767
37 congenital diaphragmatic hernia 32 frequent (33%) HP:0000776
38 single transverse palmar crease 32 frequent (33%) HP:0000954
39 sacral dimple 32 very rare (1%) HP:0000960
40 cutis marmorata 32 occasional (7.5%) HP:0000965
41 seizures 32 occasional (7.5%) HP:0001250
42 intellectual disability, mild 32 frequent (33%) HP:0001256
43 generalized hypotonia 32 frequent (33%) HP:0001290
44 dysmetria 32 frequent (33%) HP:0001310
45 cerebellar hypoplasia 32 frequent (33%) HP:0001321
46 joint hypermobility 32 occasional (7.5%) HP:0001382
47 atrial septal defect 32 occasional (7.5%) HP:0001631
48 patent ductus arteriosus 32 occasional (7.5%) HP:0001643
49 aortic valve stenosis 32 very rare (1%) HP:0001650
50 aortic dilatation 32 frequent (33%) HP:0001724

Drugs & Therapeutics for 7q11.23 Duplication Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351

Search 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:

39
Heart, Uterus, Eye

Publications for 7q11.23 Duplication Syndrome

Articles related to 7q11.23 Duplication Syndrome:

id Title Authors Year
1
7q11.23 Duplication syndrome: Physical characteristics and natural history. ( 26333794 )
2015
2
Children with 7q11.23 duplication syndrome: psychological characteristics. ( 25900101 )
2015
3
Brief report: functional MRI of a patient with 7q11.23 duplication syndrome and autism spectrum disorder. ( 24722762 )
2014
4
Children with 7q11.23 Duplication Syndrome: Speech, Language, Cognitive, and Behavioral Characteristics and their Implications for Intervention. ( 22754604 )
2011
5
7q11.23 Duplication Syndrome ( 26610320 )
1993

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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