MCID: CHR659
MIFTS: 36

Chromosome 22q11.2 Duplication Syndrome

Categories: Rare diseases, Fetal diseases, Genetic diseases

Aliases & Classifications for Chromosome 22q11.2 Duplication Syndrome

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

Name: Chromosome 22q11.2 Duplication Syndrome 57 53 25
Chromosome 22q11.2 Microduplication Syndrome 57 12 25 13 15 73
22q11.2 Microduplication Syndrome 12 53 59
22q11.2 Duplication 24 53 25
22q11.2 Duplication Syndrome 53 29
Duplication 22q11.2 12 59
Trisomy 22q11.2 12 59
Dup(22)(q11) 59

Characteristics:

Orphanet epidemiological data:

59
22q11.2 microduplication syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal dominant
isolated cases

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


HPO:

32
chromosome 22q11.2 duplication syndrome:
Inheritance autosomal dominant inheritance sporadic


GeneReviews:

24
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 : 53 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 velocardiofacial syndrome and distal 22q11.2 microduplication syndrome. An important gene associated with Chromosome 22q11.2 Duplication Syndrome is DUP22Q11.2 (Chromosome 22q11.2 Microduplication Syndrome), and among its related pathways/superpathways is G-protein signaling_H-RAS regulation pathway. Affiliated tissues include heart and thymus, and related phenotypes are hypertelorism and ptosis

Genetics Home Reference : 25 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 : 76 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:

# Related Disease Score Top Affiliating Genes
1 velocardiofacial syndrome 26.4 CECR2 CLTCL1 MED15 TBX1 ZNF74
2 distal 22q11.2 microduplication syndrome 12.1
3 autism 10.0
4 juvenile glaucoma 9.9
5 epilepsy 9.9
6 cat eye syndrome 9.8
7 schizophrenia 9.8
8 psychotic disorder 9.8
9 digeorge syndrome 8.8 LZTR1 TBX1 ZNF74
10 chromosomal deletion syndrome 8.8 CECR2 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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
3 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
4 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
5 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
6 neurological speech impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002167
7 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
8 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
9 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
10 delayed speech and language development 59 32 frequent (33%) Frequent (79-30%) HP:0000750
11 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
12 smooth philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000319
13 stereotypy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000733
14 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
15 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
16 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
17 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
18 attention deficit hyperactivity disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0007018
19 growth delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001510
20 anxiety 59 32 occasional (7.5%) Occasional (29-5%) HP:0000739
21 hypoplastic left heart 59 32 occasional (7.5%) Occasional (29-5%) HP:0004383
22 abnormality of immune system physiology 59 32 occasional (7.5%) Occasional (29-5%) HP:0010978
23 depressed nasal ridge 59 32 frequent (33%) Frequent (79-30%) HP:0000457
24 narrow face 59 32 frequent (33%) Frequent (79-30%) HP:0000275
25 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
26 aplasia/hypoplasia of the thymus 59 32 occasional (7.5%) Occasional (29-5%) HP:0010515
27 tetralogy of fallot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001636
28 abnormality of the pharynx 59 32 frequent (33%) Frequent (79-30%) HP:0000600
29 nasal speech 59 32 frequent (33%) Frequent (79-30%) HP:0001611
30 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
31 obsessive-compulsive behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000722
32 high forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000348
33 urethral stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008661
34 midface retrusion 59 32 frequent (33%) Frequent (79-30%) HP:0011800
35 hydronephrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000126
36 displacement of the external urethral meatus 59 32 occasional (7.5%) Occasional (29-5%) HP:0100627
37 wide nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0000445
38 anterior creases of earlobe 59 32 occasional (7.5%) Occasional (29-5%) HP:0009908
39 transposition of the great arteries 59 32 occasional (7.5%) Occasional (29-5%) HP:0001669
40 interrupted aortic arch 59 32 occasional (7.5%) Occasional (29-5%) HP:0011611
41 low-set ears 32 HP:0000369
42 high palate 32 HP:0000218
43 specific learning disability 32 HP:0001328
44 abnormality of the pinna 32 HP:0000377
45 abnormality of cardiovascular system morphology 32 HP:0030680
46 generalized hypotonia 32 HP:0001290
47 velopharyngeal insufficiency 32 HP:0000220

Drugs & Therapeutics for Chromosome 22q11.2 Duplication Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 22q11.2 Duplication 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 29

Anatomical Context for Chromosome 22q11.2 Duplication Syndrome

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

41
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 and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature. ( 23159380 )
2012
3
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

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

# Super pathways Score Top Affiliating Genes
1 10.19 BCR HRAS

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 positive regulation of epithelial cell proliferation GO:0050679 8.62 HRAS TBX1

Sources for Chromosome 22q11.2 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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