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 23 49 24
Williams-Beuren Region Duplication Syndrome 49 24 69
Chromosome 7q11.23 Duplication Syndrome 49 24
7q11.23 Microduplication Syndrome 49 24
Somerville-Van Der Aa Syndrome 49 24
Wbs Duplication Syndrome 49 24
Trisomy 7q11.23 49 24
Dup(7)(q11.23) 49 24
Chromosome 7q11.23 Duplication 24

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 : 49 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. Last updated: 10/6/2017

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, brain and uterus.

Genetics Home Reference : 24 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 distal 7q11.23 microduplication syndrome 12.1
2 williams-beuren region duplication syndrome 11.8
3 autism 9.9
4 autism spectrum disorder 9.9
5 williams-beuren syndrome 8.9 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:

31 (show top 50) (show all 91)
# Description HPO Frequency HPO Source Accession
1 short attention span 31 HP:0000736
2 delayed speech and language development 31 hallmark (90%) HP:0000750
3 intellectual disability 31 HP:0001249
4 inguinal hernia 31 occasional (7.5%) HP:0000023
5 cryptorchidism 31 occasional (7.5%) HP:0000028
6 hypospadias 31 very rare (1%) HP:0000047
7 unilateral renal agenesis 31 very rare (1%) HP:0000122
8 hydronephrosis 31 very rare (1%) HP:0000126
9 short lingual frenulum 31 occasional (7.5%) HP:0000200
10 high palate 31 frequent (33%) HP:0000218
11 thin upper lip vermilion 31 frequent (33%) HP:0000219
12 hydrocephalus 31 very rare (1%) HP:0000238
13 brachycephaly 31 frequent (33%) HP:0000248
14 macrocephaly 31 frequent (33%) HP:0000256
15 dolichocephaly 31 frequent (33%) HP:0000268
16 retrognathia 31 frequent (33%) HP:0000278
17 round face 31 very rare (1%) HP:0000311
18 hypertelorism 31 occasional (7.5%) HP:0000316
19 short philtrum 31 frequent (33%) HP:0000322
20 broad forehead 31 frequent (33%) HP:0000337
21 micrognathia 31 frequent (33%) HP:0000347
22 high forehead 31 occasional (7.5%) HP:0000348
23 hearing impairment 31 very rare (1%) HP:0000365
24 low-set, posteriorly rotated ears 31 frequent (33%) HP:0000368
25 chronic otitis media 31 occasional (7.5%) HP:0000389
26 overfolded helix 31 occasional (7.5%) HP:0000396
27 broad nasal tip 31 frequent (33%) HP:0000455
28 short neck 31 very rare (1%) HP:0000470
29 astigmatism 31 very rare (1%) HP:0000483
30 deeply set eye 31 frequent (33%) HP:0000490
31 long eyelashes 31 frequent (33%) HP:0000527
32 esotropia 31 occasional (7.5%) HP:0000565
33 exotropia 31 very rare (1%) HP:0000577
34 dental malocclusion 31 frequent (33%) HP:0000689
35 diastema 31 frequent (33%) HP:0000699
36 aggressive behavior 31 occasional (7.5%) HP:0000718
37 stereotypy 31 occasional (7.5%) HP:0000733
38 impaired social interactions 31 occasional (7.5%) HP:0000735
39 anxiety 31 frequent (33%) HP:0000739
40 hyperactivity 31 frequent (33%) HP:0000752
41 autism with high cognitive abilities 31 occasional (7.5%) HP:0000753
42 pectus excavatum 31 very rare (1%) HP:0000767
43 congenital diaphragmatic hernia 31 frequent (33%) HP:0000776
44 enuresis 31 very rare (1%) HP:0000805
45 single transverse palmar crease 31 frequent (33%) HP:0000954
46 cafe-au-lait spot 31 very rare (1%) HP:0000957
47 sacral dimple 31 very rare (1%) HP:0000960
48 cutis marmorata 31 occasional (7.5%) HP:0000965
49 seizures 31 occasional (7.5%) HP:0001250
50 intellectual disability, mild 31 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:

38
Heart, Brain, Uterus, Eye

Publications for 7q11.23 Duplication Syndrome

Articles related to 7q11.23 Duplication Syndrome:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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