MCID: 7Q1002
MIFTS: 31

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 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 heart, brain and uterus, and related phenotypes are short attention span 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 27.2 LOC106029311 LOC106029312 LOC106029313
2 distal 7q11.23 microduplication syndrome 12.1
3 williams-beuren region duplication syndrome 12.0
4 autism 9.9
5 autism spectrum disorder 9.9

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 91)
# Description HPO Frequency HPO Source Accession
1 short attention span 32 HP:0000736
2 delayed speech and language development 32 hallmark (90%) HP:0000750
3 intellectual disability 32 HP:0001249
4 inguinal hernia 32 occasional (7.5%) HP:0000023
5 cryptorchidism 32 occasional (7.5%) 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 upper lip vermilion 32 frequent (33%) HP:0000219
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 round face 32 very rare (1%) HP:0000311
18 hypertelorism 32 occasional (7.5%) HP:0000316
19 short philtrum 32 frequent (33%) HP:0000322
20 broad forehead 32 frequent (33%) HP:0000337
21 micrognathia 32 frequent (33%) HP:0000347
22 high forehead 32 occasional (7.5%) HP:0000348
23 hearing impairment 32 very rare (1%) HP:0000365
24 low-set, posteriorly rotated ears 32 frequent (33%) HP:0000368
25 chronic otitis media 32 occasional (7.5%) HP:0000389
26 overfolded helix 32 occasional (7.5%) HP:0000396
27 broad nasal tip 32 frequent (33%) HP:0000455
28 short neck 32 very rare (1%) HP:0000470
29 astigmatism 32 very rare (1%) HP:0000483
30 deeply set eye 32 frequent (33%) HP:0000490
31 long eyelashes 32 frequent (33%) HP:0000527
32 esotropia 32 occasional (7.5%) HP:0000565
33 exotropia 32 very rare (1%) HP:0000577
34 dental malocclusion 32 frequent (33%) HP:0000689
35 diastema 32 frequent (33%) HP:0000699
36 aggressive behavior 32 occasional (7.5%) HP:0000718
37 stereotypy 32 occasional (7.5%) HP:0000733
38 impaired social interactions 32 occasional (7.5%) HP:0000735
39 anxiety 32 frequent (33%) HP:0000739
40 hyperactivity 32 frequent (33%) HP:0000752
41 autism with high cognitive abilities 32 occasional (7.5%) HP:0000753
42 pectus excavatum 32 very rare (1%) HP:0000767
43 congenital diaphragmatic hernia 32 frequent (33%) HP:0000776
44 enuresis 32 very rare (1%) HP:0000805
45 single transverse palmar crease 32 frequent (33%) HP:0000954
46 cafe-au-lait spot 32 very rare (1%) HP:0000957
47 sacral dimple 32 very rare (1%) HP:0000960
48 cutis marmorata 32 occasional (7.5%) HP:0000965
49 seizures 32 occasional (7.5%) HP:0001250
50 intellectual disability, mild 32 frequent (33%) HP:0001256

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
Heart, Brain, Uterus, Eye

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
7
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
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
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45 MESH via Orphanet
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50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
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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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