MCID: CHR659
MIFTS: 47

Chromosome 22q11.2 Duplication Syndrome

Categories: Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Rare diseases
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Aliases & Classifications for Chromosome 22q11.2 Duplication Syndrome

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

Name: Chromosome 22q11.2 Duplication Syndrome 57 19 42
Chromosome 22q11.2 Microduplication Syndrome 57 11 42 28 12 5 43 14 71
22q11.2 Microduplication Syndrome 11 19 58
22q11.2 Duplication Syndrome 19 58 75
Duplication 22q11.2 11 58
22q11.2 Duplication 19 42
Trisomy 22q11.2 11 58
Dup(22)(q11) 58

Characteristics:


Inheritance:

Chromosome 22q11.2 Duplication Syndrome: Autosomal dominant 57
22q11.2 Duplication Syndrome: Autosomal dominant 58

Age Of Onset:

22q11.2 Duplication Syndrome: All ages 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
highly variable phenotype, ranging from asymptomatic to severe
contiguous gene duplication syndrome


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Chromosome 22q11.2 Duplication Syndrome

GARD: 19 22q11.2 duplication syndrome 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 genetic change that occurs for the first time. In either case, the condition can be passed on to children. The duplication is not detectable by karyotype and most cases are identified by a technique known as chromosomal microarray.

MalaCards based summary: Chromosome 22q11.2 Duplication Syndrome, also known as chromosome 22q11.2 microduplication syndrome, is related to heart septal defect and atrial heart septal defect. An important gene associated with Chromosome 22q11.2 Duplication Syndrome is DUP22Q11.2 (Chromosome 22q11.2 Microduplication Syndrome), and among its related pathways/superpathways are 22q11.2 copy number variation syndrome and Miscellaneous transport and binding events. Affiliated tissues include heart, thymus and whole blood, and related phenotypes are intellectual disability and hypotonia

MedlinePlus Genetics: 42 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.The features of this condition vary widely, even among members of the same family. Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, and weak muscle tone (hypotonia). Many people with the duplication have no apparent physical or intellectual disabilities.

Orphanet: 58 A rare chromosomal anomaly characterized by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal.

Disease Ontology: 11 A chromosomal duplication syndrome that has material basis in duplication of the chromosome 22q11.2 region.

Wikipedia: 75 22q11.2 duplication syndrome is a rare genetic disorder caused by a duplication of a segment at the end... more...

More information from OMIM: 608363

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 top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 heart septal defect 30.2 TBX1 PRODH HIRA
2 atrial heart septal defect 30.0 TBX1 PRODH LZTR1 HIRA
3 patau syndrome 30.0 TBX1 DGCR5
4 ventricular septal defect 30.0 TBX1 PRODH HIRA
5 chromosomal disease 29.7 TBX1 PRODH NIPA2 HIRA DGCR5
6 digeorge syndrome 28.7 ZNF74 UFD1 TBX1 PRODH LZTR1 HIRA
7 velocardiofacial syndrome 28.4 ZNF74 UFD1 TOP3B TBX1 PRODH LZTR1
8 tetralogy of fallot 28.3 ZNF74 UFD1 TBX1 PRODH LZTR1 HIRA
9 chromosome 22q11.2 deletion syndrome, distal 27.3 ZNF74 UFD1 TUBA8 TOP3B TBX1 PRODH
10 cat eye syndrome 11.8
11 distal 22q11.2 microduplication syndrome 11.4
12 autism spectrum disorder 10.2
13 hyperprolinemia, type i 10.2 PRODH DGCR6L DGCR5
14 hyperprolinemia 10.2 PRODH DGCR6L DGCR5
15 tricuspid atresia 10.2 TBX1 PRODH
16 ichthyosis, congenital, autosomal recessive 9 10.1 TBX1 HIRA CLTCL1
17 patent ductus arteriosus 1 10.1 TBX1 PRODH HIRA
18 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 10.1 TUBA8 PRODH
19 hypertelorism 10.1
20 autism 10.1
21 physical disorder 10.1 TBX1 PRODH DGCR5
22 van den ende-gupta syndrome 10.1 PRODH LZTR1
23 orofacial cleft 10.0 TBX1 PRODH HIRA DGCR5
24 attention deficit-hyperactivity disorder 10.0
25 palatopharyngeal incompetence 10.0
26 sturge-weber syndrome 10.0
27 teeth, supernumerary 10.0
28 vater/vacterl association 10.0
29 immune deficiency disease 10.0
30 epilepsy, focal, with speech disorder and with or without impaired intellectual development 10.0
31 intraocular pressure quantitative trait locus 10.0
32 cerebellar atrophy, developmental delay, and seizures 10.0
33 esophageal atresia 10.0
34 juvenile glaucoma 10.0
35 patent foramen ovale 10.0
36 vacterl association 10.0
37 epilepsy 10.0
38 hemangioma 10.0
39 ovarian cyst 10.0
40 subvalvular aortic stenosis 10.0
41 learning disability 10.0
42 continuous spike-wave during slow sleep syndrome 10.0
43 weber syndrome 10.0
44 interatrial communication 10.0
45 orofaciodigital syndrome viii 10.0
46 phelan-mcdermid syndrome 10.0
47 cataract 25 10.0 NIPA2 NIPA1
48 spastic paraplegia 6, autosomal dominant 10.0 NIPA2 NIPA1
49 aortic valve disease 1 9.9
50 cleft palate, isolated 9.9

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:

58 30 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Frequent (33%) Frequent (79-30%)
HP:0001249
2 hypotonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001252
3 global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001263
4 hypertelorism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000316
5 delayed speech and language development 58 30 Frequent (33%) Frequent (79-30%)
HP:0000750
6 cleft palate 58 30 Frequent (33%) Frequent (79-30%)
HP:0000175
7 epicanthus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000286
8 narrow face 58 30 Frequent (33%) Frequent (79-30%)
HP:0000275
9 downslanted palpebral fissures 58 30 Frequent (33%) Frequent (79-30%)
HP:0000494
10 depressed nasal ridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0000457
11 abnormality of the pharynx 58 30 Frequent (33%) Frequent (79-30%)
HP:0000600
12 nasal speech 58 30 Frequent (33%) Frequent (79-30%)
HP:0001611
13 high forehead 58 30 Frequent (33%) Frequent (79-30%)
HP:0000348
14 midface retrusion 58 30 Frequent (33%) Frequent (79-30%)
HP:0011800
15 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
16 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
17 ptosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000508
18 hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000365
19 microcephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000252
20 smooth philtrum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000319
21 autism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000717
22 attention deficit hyperactivity disorder 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007018
23 growth delay 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001510
24 micrognathia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000347
25 anxiety 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000739
26 hypoplastic left heart 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004383
27 abnormality of immune system physiology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010978
28 aplasia/hypoplasia of the thymus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010515
29 obsessive-compulsive behavior 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000722
30 tetralogy of fallot 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001636
31 interrupted aortic arch 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011611
32 hydronephrosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000126
33 ventricular septal defect 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001629
34 urethral stenosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008661
35 displacement of the urethral meatus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100627
36 wide nose 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000445
37 anterior creases of earlobe 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009908
38 transposition of the great arteries 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001669
39 motor stereotypy 30 Occasional (7.5%) HP:0000733
40 neurological speech impairment 58 Frequent (79-30%)
41 high palate 30 HP:0000218
42 stereotypy 58 Occasional (29-5%)
43 low-set ears 30 HP:0000369
44 specific learning disability 30 HP:0001328
45 abnormality of cardiovascular system morphology 30 HP:0030680
46 generalized hypotonia 30 HP:0001290
47 velopharyngeal insufficiency 30 HP:0000220

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Muscle Soft Tissue:
hypotonia

Head And Neck Head:
microcephaly

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

Respiratory Nasopharynx:
velopharyngeal insufficiency

Head And Neck Mouth:
high-arched palate

Head And Neck Nose:
broad flat nose

Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
epicanthal folds

Head And Neck Face:
micrognathia

Voice:
nasal speech

Growth Other:
growth retardation

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

Cardiovascular Heart:
congenital cardiac malformations, variable

Clinical features from OMIM®:

608363 (Updated 08-Dec-2022)

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 Chromosome 22q11.2 Microduplication Syndrome 28

Anatomical Context for Chromosome 22q11.2 Duplication Syndrome

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

MalaCards : Heart, Thymus, Whole Blood, Eye, Kidney, Bone

Publications for Chromosome 22q11.2 Duplication Syndrome

Articles related to Chromosome 22q11.2 Duplication Syndrome:

(show top 50) (show all 110)
# Title Authors PMID Year
1
Clinical variability of the 22q11.2 duplication syndrome. 62 57
18707033 2008
2
Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication. 62 57
18076674 2008
3
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. 57
21792059 2011
4
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 57
21844811 2011
5
Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in mice. 57
19617637 2009
6
Population analysis of large copy number variants and hotspots of human genetic disease. 57
19166990 2009
7
Microduplication 22q11.2: a benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?--Report of two families. 57
18260141 2008
8
Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome. 57
17041934 2006
9
The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies. 57
16761289 2006
10
Incidence of microduplication 22q11.2 in patients referred for FISH testing for velo cardiofacial and DiGeorge syndromes. 57
16175191 2005
11
Microduplication and triplication of 22q11.2: a highly variable syndrome. 57
15800846 2005
12
Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. 57
14526392 2003
13
A common molecular basis for rearrangement disorders on chromosome 22q11. 57
10369860 1999
14
Efficiency of expanded noninvasive prenatal testing in the detection of fetal subchromosomal microdeletion and microduplication in a cohort of 31,256 single pregnancies. 62
36396840 2022
15
Parent-Reported Social-Communicative Skills of Children with 22q11.2 Copy Number Variants and Siblings. 62
36292686 2022
16
The Unique Experience of a New Multidisciplinary Program for 22q Deletion and Duplication Syndromes in a Community Hospital in Florida: A Reaffirmation That Multidisciplinary Care Is Essential for Best Outcomes in These Patients. 62
36360185 2022
17
Neurodevelopmental functioning in probands and non-proband carriers of 22q11.2 microduplication. 62
35899837 2022
18
Copy number variation at the 22q11.2 locus influences prevalence, severity, and psychiatric impact of sleep disturbance. 62
35820809 2022
19
Clinical Features of Aberrations Chromosome 22q: A Pilot Study. 62
35169783 2022
20
Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums. 62
34797032 2022
21
22q11.2 duplications: Expanding the clinical presentation. 62
34845825 2022
22
Cross-sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study. 62
34491614 2022
23
Transcriptomic profiling of whole blood in 22q11.2 reciprocal copy number variants reveals that cell proportion highly impacts gene expression. 62
34841284 2021
24
Opposing white matter microstructure abnormalities in 22q11.2 deletion and duplication carriers. 62
34759270 2021
25
A child with cat-eye syndrome and oculo-auriculo-vertebral spectrum phenotype: A discussion around molecular cytogenetic findings. 62
34474176 2021
26
"Blepharophimosis-plus" syndromes: Frequency of systemic genetic disorders that also include blepharophimosis. 62
33882191 2021
27
GATA 4 Deletions Associated with Congenital Heart Diseases in South Brazil. 62
33996178 2021
28
Striatal dopaminergic alterations in individuals with copy number variants at the 22q11.2 genetic locus and their implications for psychosis risk: a [18F]-DOPA PET study. 62
33981004 2021
29
Mayer-Rokitansky-K├╝ster-Hauser syndrome with 22q11.21 microduplication: a case report. 62
33883018 2021
30
Cardiac evaluation of patients with 22q11.2 duplication syndrome. 62
33369133 2021
31
Immunodeficiency in 22q11.2 duplication syndrome. 62
32949807 2021
32
An Unexpected Cause of Ptosis: 22q11.2 Duplication Syndrome. 62
33642297 2021
33
Increased prenatal detection of 22q11.2 deletion and 22q11.2 duplication after introduction of nationwide prenatal screening for trisomy 21, trisomy 13, and trisomy 18. 62
33080663 2021
34
A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants. 62
33384013 2021
35
Reciprocal Copy Number Variations at 22q11.2 Produce Distinct and Convergent Neurobehavioral Impairments Relevant for Schizophrenia and Autism Spectrum Disorder. 62
32143830 2020
36
Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report. 62
32807111 2020
37
Genetic syndromes associated with isolated fetal growth restriction. 62
31891188 2020
38
Prenatal diagnosis of rearrangements in the fetal 22q11.2 region. 62
32670410 2020
39
Atypical 22q11.2 Microduplication with "Typical" Signs and Overgrowth. 62
33472199 2020
40
Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain). 62
31663686 2019
41
DiGeorge syndrome chromosome region deletion and duplication: Prenatal genotype-phenotype variability in fetal ultrasound and MRI. 62
31647121 2019
42
22q11.2 duplication: a review of neuropsychiatric correlates and a newly observed case of prototypic sociopathy. 62
31836587 2019
43
Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience. 62
31479204 2019
44
Congenital nephrotic syndrome associated with 22q11.2 duplication syndrome in a Chinese family and functional analysis of the intronic NPHS1 c. 3286 + 5G > A mutation. 62
31443662 2019
45
[Prenatal diagnosis and pregnancy outcomes of 22q11.2 duplication syndrome: analysis of 8 cases]. 62
31901048 2019
46
22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex. 62
30628148 2019
47
A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture? 62
30793011 2019
48
Heterozygous WNT1 variant causing a variable bone phenotype. 62
30246918 2018
49
Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome. 62
29341423 2018
50
22q11.2 microduplication syndrome and juvenile glaucoma. 62
29902089 2018

Variations for Chromosome 22q11.2 Duplication Syndrome

ClinVar genetic disease variations for Chromosome 22q11.2 Duplication Syndrome:

5 (show all 24)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 49 genes GRCh37/hg19 22q11.21(chr22:18609712-21408430) CN GAIN Pathogenic
625582 GRCh37: 22:18609712-21408430
GRCh38:
2 overlap with 49 genes GRCh37/hg19 22q11.21(chr22:18611223-21408430) CN GAIN Pathogenic
625583 GRCh37: 22:18611223-21408430
GRCh38:
3 overlap with 48 genes GRCh37/hg19 22q11.21(chr22:18650745-21460220) CN GAIN Pathogenic
625584 GRCh37: 22:18650745-21460220
GRCh38:
4 overlap with 48 genes GRCh37/hg19 22q11.21(chr22:18650803-21460220) CN GAIN Pathogenic
625585 GRCh37: 22:18650803-21460220
GRCh38:
5 overlap with 48 genes GRCh37/hg19 22q11.21(chr22:18650803-21386010) CN GAIN Pathogenic
625587 GRCh37: 22:18650803-21386010
GRCh38:
6 overlap with 47 genes GRCh37/hg19 22q11.21(chr22:18892575-21460220) CN GAIN Pathogenic
625588 GRCh37: 22:18892575-21460220
GRCh38:
7 overlap with 29 genes GRCh37/hg19 22q11.21(chr22:18892575-20308800) CN GAIN Pathogenic
625589 GRCh37: 22:18892575-20308800
GRCh38:
8 overlap with 38 genes GRCh37/hg19 22q11.21(chr22:18900755-21075586) CN GAIN Pathogenic
625590 GRCh37: 22:18900755-21075586
GRCh38:
9 overlap with 52 genes GRCh37/hg19 22q11.21(chr22:18912514-21922035) CN GAIN Pathogenic
625619 GRCh37: 22:18912514-21922035
GRCh38:
10 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18923898-21431174) CN GAIN Pathogenic
625622 GRCh37: 22:18923898-21431174
GRCh38:
11 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18912514-21431174) CN GAIN Pathogenic
625681 GRCh37: 22:18912514-21431174
GRCh38:
12 overlap with 45 genes GRCh37/hg19 22q11.1-11.21(chr22:17289827-20311922) CN GAIN Pathogenic
625807 GRCh37: 22:17289827-20311922
GRCh38:
13 overlap with 126 genes GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3 CN GAIN Pathogenic
981206 GRCh37: 22:16888899-26483608
GRCh38:
14 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18917047-21465659) CN GAIN Pathogenic
1703647 GRCh37: 22:18917047-21465659
GRCh38:
15 overlap with 49 genes GRCh37/hg19 22q11.21(chr22:18916827-21804886) CN GAIN Pathogenic
1703649 GRCh37: 22:18916827-21804886
GRCh38:
16 overlap with 70 genes GRCh37/hg19 22q11.1-11.21(chr22:16888899-21915509) CN GAIN Pathogenic
1703650 GRCh37: 22:16888899-21915509
GRCh38:
17 overlap with 48 genes GRCh37/hg19 22q11.21(chr22:18648855-21461017)x3 CN GAIN Pathogenic
636285 GRCh37: 22:18648855-21461017
GRCh38:
18 overlap with 45 genes GRCh37/hg19 22q11.21(chr22:18937380-21459713)x3 CN GAIN Pathogenic
636286 GRCh37: 22:18937380-21459713
GRCh38:
19 overlap with 54 genes GRCh37/hg19 22q11.21(chr22:18648855-21927646)x3 CN GAIN Pathogenic
636287 GRCh37: 22:18648855-21927646
GRCh38:
20 overlap with 30 genes GRCh37/hg19 22q11.21(chr22:19819477-21464764)x3 CN GAIN Pathogenic
636288 GRCh37: 22:19819477-21464764
GRCh38:
21 overlap with 77 genes DEL Pathogenic
1703235 GRCh37:
GRCh38: 22:18985739-21081116
22 overlap with 52 genes GRCh37/hg19 22q11.21-11.23(chr22:21798906-25039018) CN GAIN Pathogenic
1703645 GRCh37: 22:21798906-25039018
GRCh38:
23 overlap with 13 genes GRCh37/hg19 22q11.21(chr22:20732808-21465659) CN GAIN Likely Pathogenic
1703646 GRCh37: 22:20732808-21465659
GRCh38:
24 overlap with 17 genes GRCh37/hg19 22q11.21-11.22(chr22:21905051-22989041)x3 CN GAIN Uncertain Significance
1330164 GRCh37: 22:21905051-22989041
GRCh38:

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

6
# CNVD ID Chromosome 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 11.44 ZNF74 UFD1 TBX1 PRODH LZTR1 HIRA
2 10.57 NIPA2 NIPA1
3 10.09 TUBGCP2 NIPA2 NIPA1

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 retinoic acid receptor signaling pathway GO:0048384 9.56 TBX1 CRKL
2 magnesium ion transmembrane transport GO:1903830 9.46 NIPA2 NIPA1
3 magnesium ion transport GO:0015693 9.26 NIPA2 NIPA1
4 parathyroid gland development GO:0060017 8.92 TBX1 CRKL

Sources for Chromosome 22q11.2 Duplication Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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