MCID: CHR659
MIFTS: 35

Chromosome 22q11.2 Duplication Syndrome

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 22q11.2 Duplication Syndrome

MalaCards integrated aliases for Chromosome 22q11.2 Duplication Syndrome:

Name: Chromosome 22q11.2 Duplication Syndrome 58 54 26
Chromosome 22q11.2 Microduplication Syndrome 58 12 26 13 45 15 74
22q11.2 Microduplication Syndrome 12 54 60
22q11.2 Duplication 25 54 26
22q11.2 Duplication Syndrome 54 30
Duplication 22q11.2 12 60
Trisomy 22q11.2 12 60
Dup(22)(q11) 60

Characteristics:

Orphanet epidemiological data:

60
22q11.2 microduplication syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy;

OMIM:

58
Inheritance:
autosomal dominant
isolated cases

Miscellaneous:
highly variable phenotype, ranging from asymptomatic to severe
contiguous gene duplication syndrome


HPO:

33
chromosome 22q11.2 duplication syndrome:
Inheritance autosomal dominant inheritance sporadic


GeneReviews:

25
Penetrance In probands in whom 22q11.2 tandem duplication is identified, caution is needed in attributing the observed clinical features to this finding. duplication 22q11.2 has been observed in normal people as well as in people who were studied because they had developmental delay, intellectual disability, or other clinical features suggestive of a chromosomal abnormality...

Classifications:



Summaries for Chromosome 22q11.2 Duplication Syndrome

NIH Rare Diseases : 54 22q11.2 duplicationsyndrome is a condition caused by an extra copy of a small piece of chromosome 22 which contains about 30 to 40 genes. The features of this condition vary widely, even among members of the same family (intrafamilial variability). Affected individuals may have intellectual or learning disability, developmental delay, slow growth leading to short stature, and weak muscle tone (hypotonia). Many people with the condition have no apparent physical or intellectual disabilities. It is inherited in an autosomal dominant manner. While many affected people inherit the condition from a parent, others are affected due to having a new mutation that occurs for the first time. In either case, the condition can be passed on to children. Researchers are working to determine which duplicated genes may contribute to the developmental delay and other problems that sometimes affect people with this condition. The duplication is not detectable by karyotype and most cases are identified by a technique known as chromosomal microarray. Treatment depends on the symptoms in each person and includes an individualized educational program.

MalaCards based summary : Chromosome 22q11.2 Duplication Syndrome, also known as chromosome 22q11.2 microduplication syndrome, is related to distal 22q11.2 microduplication syndrome and autism. An important gene associated with Chromosome 22q11.2 Duplication Syndrome is DUP22Q11.2 (Chromosome 22q11.2 Microduplication Syndrome). Affiliated tissues include heart and thymus, and related phenotypes are hypertelorism and intellectual disability

Genetics Home Reference : 26 22q11.2 duplication is a condition caused by an extra copy of a small piece of chromosome 22. The duplication occurs near the middle of the chromosome at a location designated q11.2.

Wikipedia : 77 22q11.2 duplication syndrome is a rare genetic disorder caused by a duplication of a segment at the end... more...

Description from OMIM: 608363
GeneReviews: NBK3823

Related Diseases for Chromosome 22q11.2 Duplication Syndrome

Diseases related to Chromosome 22q11.2 Duplication Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 distal 22q11.2 microduplication syndrome 12.3
2 autism 10.3
3 autism spectrum disorder 10.1
4 tracheoesophageal fistula with or without esophageal atresia 10.1
5 aural atresia, congenital 10.1
6 esophageal atresia 10.1
7 juvenile glaucoma 10.1
8 epilepsy 10.1
9 heart disease 10.0
10 cat eye syndrome 9.9
11 schizophrenia 9.9
12 exstrophy of bladder 9.9
13 bladder exstrophy-epispadias-cloacal exstrophy complex 9.9
14 psychotic disorder 9.9
15 chromosomal triplication 9.9
16 chromosomal deletion syndrome 9.6 TBX1 ZNF74
17 velocardiofacial syndrome 9.4 MED15 TBX1 ZNF74
18 digeorge syndrome 8.9 CLTCL1 LZTR1 MED15 TBX1 ZNF74

Graphical network of the top 20 diseases related to Chromosome 22q11.2 Duplication Syndrome:



Diseases related to Chromosome 22q11.2 Duplication Syndrome

Symptoms & Phenotypes for Chromosome 22q11.2 Duplication Syndrome

Human phenotypes related to Chromosome 22q11.2 Duplication Syndrome:

60 33 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
2 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
3 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
4 neurological speech impairment 60 33 frequent (33%) Frequent (79-30%) HP:0002167
5 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
6 delayed speech and language development 60 33 frequent (33%) Frequent (79-30%) HP:0000750
7 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
8 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
9 depressed nasal ridge 60 33 frequent (33%) Frequent (79-30%) HP:0000457
10 narrow face 60 33 frequent (33%) Frequent (79-30%) HP:0000275
11 downslanted palpebral fissures 60 33 frequent (33%) Frequent (79-30%) HP:0000494
12 abnormality of the pharynx 60 33 frequent (33%) Frequent (79-30%) HP:0000600
13 nasal speech 60 33 frequent (33%) Frequent (79-30%) HP:0001611
14 high forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000348
15 midface retrusion 60 33 frequent (33%) Frequent (79-30%) HP:0011800
16 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
17 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
18 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
19 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
20 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
21 smooth philtrum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000319
22 stereotypy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000733
23 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
24 autism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000717
25 attention deficit hyperactivity disorder 60 33 occasional (7.5%) Occasional (29-5%) HP:0007018
26 growth delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001510
27 anxiety 60 33 occasional (7.5%) Occasional (29-5%) HP:0000739
28 hypoplastic left heart 60 33 occasional (7.5%) Occasional (29-5%) HP:0004383
29 abnormality of immune system physiology 60 33 occasional (7.5%) Occasional (29-5%) HP:0010978
30 aplasia/hypoplasia of the thymus 60 33 occasional (7.5%) Occasional (29-5%) HP:0010515
31 tetralogy of fallot 60 33 occasional (7.5%) Occasional (29-5%) HP:0001636
32 ventricular septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001629
33 obsessive-compulsive behavior 60 33 occasional (7.5%) Occasional (29-5%) HP:0000722
34 urethral stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0008661
35 hydronephrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000126
36 wide nose 60 33 occasional (7.5%) Occasional (29-5%) HP:0000445
37 anterior creases of earlobe 60 33 occasional (7.5%) Occasional (29-5%) HP:0009908
38 transposition of the great arteries 60 33 occasional (7.5%) Occasional (29-5%) HP:0001669
39 interrupted aortic arch 60 33 occasional (7.5%) Occasional (29-5%) HP:0011611
40 displacement of the urethral meatus 33 occasional (7.5%) HP:0100627
41 low-set ears 33 HP:0000369
42 high palate 33 HP:0000218
43 specific learning disability 33 HP:0001328
44 abnormality of the pinna 33 HP:0000377
45 displacement of the external urethral meatus 60 Occasional (29-5%)
46 generalized hypotonia 33 HP:0001290
47 abnormality of cardiovascular system morphology 33 HP:0030680
48 velopharyngeal insufficiency 33 HP:0000220

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
epicanthal folds

Head And Neck Head:
microcephaly

Voice:
nasal speech

Muscle Soft Tissue:
hypotonia

Growth Other:
growth retardation

Head And Neck Nose:
broad flat nose

Head And Neck Ears:
low-set ears
dysplastic ears
thick helices

Head And Neck Face:
micrognathia

Respiratory Nasopharynx:
velopharyngeal insufficiency

Head And Neck Mouth:
high-arched palate

Neurologic Central Nervous System:
mental retardation
delayed psychomotor development
learning disabilities
speech delay

Cardiovascular Heart:
congenital cardiac malformations, variable

Clinical features from OMIM:

608363

Drugs & Therapeutics for Chromosome 22q11.2 Duplication Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 22q11.2 Duplication Syndrome

Cochrane evidence based reviews: chromosome 22q11.2 microduplication syndrome

Genetic Tests for Chromosome 22q11.2 Duplication Syndrome

Genetic tests related to Chromosome 22q11.2 Duplication Syndrome:

# Genetic test Affiliating Genes
1 22q11.2 Duplication Syndrome 30

Anatomical Context for Chromosome 22q11.2 Duplication Syndrome

MalaCards organs/tissues related to Chromosome 22q11.2 Duplication Syndrome:

42
Heart, Thymus

Publications for Chromosome 22q11.2 Duplication Syndrome

Articles related to Chromosome 22q11.2 Duplication Syndrome:

# Title Authors Year
1
22q11.2 microduplication syndrome and juvenile glaucoma. ( 29902089 )
2018
2
22q11.2 microduplication syndrome with associated esophageal atresia/tracheo-esophageal fistula and vascular ring. ( 28265405 )
2017
3
22q11.2 Microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature. ( 23159380 )
2012
4
22q11.2 microduplication syndrome with congenital aural atresia: a family report. ( 22429940 )
2012

Variations for Chromosome 22q11.2 Duplication Syndrome

Copy number variations for Chromosome 22q11.2 Duplication Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 160819 22 16300000 24300000 Duplication 22q11.2 duplication syndrome

Expression for Chromosome 22q11.2 Duplication Syndrome

Search GEO for disease gene expression data for Chromosome 22q11.2 Duplication Syndrome.

Pathways for Chromosome 22q11.2 Duplication Syndrome

GO Terms for Chromosome 22q11.2 Duplication Syndrome

Biological processes related to Chromosome 22q11.2 Duplication Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inner ear morphogenesis GO:0042472 8.62 BCR TBX1

Sources for Chromosome 22q11.2 Duplication Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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