Chromosome 22q11.2 Duplication Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Muscle diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Congenital malformations, deformations and chromosomal abnormalities

Chromosomal abnormalities, not elsewhere classified

Other trisomies and partial trisomies of the autosomes, not elsewhere classified

Minor partial trisomy

Orphanet: ⁵⁸

Developmental anomalies during embryogenesis

External Ids:

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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

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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:

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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)

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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

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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

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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

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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	Wentzel C...Thuresson AC	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	Yu S...Bratkovic D	18076674	2008
3	Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. ⁵⁷	Sahoo T...Shaffer LG	21792059	2011
4	An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. ⁵⁷	Kaminsky EB...Martin CL	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	Suzuki G...Hiroi N	19617637	2009
6	Population analysis of large copy number variants and hotspots of human genetic disease. ⁵⁷	Itsara A...Eichler EE	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	Courtens W...Laridon A	18260141	2008
8	Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome. ⁵⁷	Brunet A...Guitart M	17041934	2006
9	The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies. ⁵⁷	de La Rochebrochard C...Frebourg T	16761289	2006
10	Incidence of microduplication 22q11.2 in patients referred for FISH testing for velo cardiofacial and DiGeorge syndromes. ⁵⁷	Cotter PD...Rauen KA	16175191	2005
11	Microduplication and triplication of 22q11.2: a highly variable syndrome. ⁵⁷	Yobb TM...McDermid HE	15800846	2005
12	Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. ⁵⁷	Ensenauer RE...Jalal SM	14526392	2003
13	A common molecular basis for rearrangement disorders on chromosome 22q11. ⁵⁷	Edelmann L...Morrow BE	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	Xue H...Huang H	36396840	2022
15	Parent-Reported Social-Communicative Skills of Children with 22q11.2 Copy Number Variants and Siblings. ⁶²	Verbesselt J...Swillen A	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	Meneses Z...Ale H	36360185	2022
17	Neurodevelopmental functioning in probands and non-proband carriers of 22q11.2 microduplication. ⁶²	Drmic IE...Carter MT	35899837	2022
18	Copy number variation at the 22q11.2 locus influences prevalence, severity, and psychiatric impact of sleep disturbance. ⁶²	O'Hora KP...Bearden CE	35820809	2022
19	Clinical Features of Aberrations Chromosome 22q: A Pilot Study. ⁶²	Atli EI...Gurkan H	35169783	2022
20	Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums. ⁶²	Muthusamy K...Babovic-Vuksanovic D	34797032	2022
21	22q11.2 duplications: Expanding the clinical presentation. ⁶²	Bartik LE...Kaye A	34845825	2022
22	Cross-sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study. ⁶²	Verbesselt J...Swillen A	34491614	2022
23	Transcriptomic profiling of whole blood in 22q11.2 reciprocal copy number variants reveals that cell proportion highly impacts gene expression. ⁶²	Lin A...Bearden CE	34841284	2021
24	Opposing white matter microstructure abnormalities in 22q11.2 deletion and duplication carriers. ⁶²	Seitz-Holland J...Pasternak O	34759270	2021
25	A child with cat-eye syndrome and oculo-auriculo-vertebral spectrum phenotype: A discussion around molecular cytogenetic findings. ⁶²	Glaeser AB...Machado Rosa RF	34474176	2021
26	"Blepharophimosis-plus" syndromes: Frequency of systemic genetic disorders that also include blepharophimosis. ⁶²	Landau Prat D...Katowitz JA	33882191	2021
27	GATA 4 Deletions Associated with Congenital Heart Diseases in South Brazil. ⁶²	Floriani MA...Zen PRG	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	Rogdaki M...Howes OD	33981004	2021
29	Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report. ⁶²	Dell'Edera D...Guanciali-Franchi P	33883018	2021
30	Cardiac evaluation of patients with 22q11.2 duplication syndrome. ⁶²	Butensky A...Goldmuntz E	33369133	2021
31	Immunodeficiency in 22q11.2 duplication syndrome. ⁶²	Sun D...Jyonouchi S	32949807	2021
32	An Unexpected Cause of Ptosis: 22q11.2 Duplication Syndrome. ⁶²	Arican P...Dundar NO	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	Steffensen EH...Danish Cytogenetic Central Registry Study Group	33080663	2021
34	A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants. ⁶²	Chawner SJRA...van den Bree MBM	33384013	2021
35	Reciprocal Copy Number Variations at 22q11.2 Produce Distinct and Convergent Neurobehavioral Impairments Relevant for Schizophrenia and Autism Spectrum Disorder. ⁶²	Lin A...Bearden CE	32143830	2020
36	Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report. ⁶²	Valencia-Pena C...Payan-Gomez C	32807111	2020
37	Genetic syndromes associated with isolated fetal growth restriction. ⁶²	Meler E...Borrell A	31891188	2020
38	Prenatal diagnosis of rearrangements in the fetal 22q11.2 region. ⁶²	Li S...Shen H	32670410	2020
39	Atypical 22q11.2 Microduplication with "Typical" Signs and Overgrowth. ⁶²	Fischer M...Klopocki E	33472199	2020
40	Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain). ⁶²	Martin-Nalda A...Soler-Palacin P	31663686	2019
41	DiGeorge syndrome chromosome region deletion and duplication: Prenatal genotype-phenotype variability in fetal ultrasound and MRI. ⁶²	Tramontana A...Hafner E	31647121	2019
42	22q11.2 duplication: a review of neuropsychiatric correlates and a newly observed case of prototypic sociopathy. ⁶²	Vyas S...Baldridge D	31836587	2019
43	Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience. ⁶²	Yu A...Dong J	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	Li L...Jiang H	31443662	2019
45	[Prenatal diagnosis and pregnancy outcomes of 22q11.2 duplication syndrome: analysis of 8 cases]. ⁶²	Mei J...Jin C	31901048	2019
46	22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex. ⁶²	Beaman GM...Newman WG	30628148	2019
47	A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture? ⁶²	Milone R...Battini R	30793011	2019
48	Heterozygous WNT1 variant causing a variable bone phenotype. ⁶²	Alhamdi S...Bird LM	30246918	2018
49	Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome. ⁶²	Crowley B...Sullivan KE	29341423	2018
50	22q11.2 microduplication syndrome and juvenile glaucoma. ⁶²	Di Matteo F...Bandello F	29902089	2018

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Genes for Chromosome 22q11.2 Duplication Syndrome

Genes related to Chromosome 22q11.2 Duplication Syndrome (2 elite genes):

(show all 21)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	DUP22Q11.2	Chromosome 22q11.2 Microduplication Syndrome	Genetic Locus	500	Structural variation ⁵⁷
2	TBX1	T-Box Transcription Factor 1	Protein Coding	31.74	Role in the phenotype ⁵⁸ DISEASES inferred ¹⁴	19254783
3	PRODH	Proline Dehydrogenase 1	Protein Coding	9.84	DISEASES inferred ¹⁴ ¹⁴
4	DGCR5	DiGeorge Syndrome Critical Region Gene 5	RNA Gene	9.74	DISEASES inferred ¹⁴ ¹⁴
5	ZNF74	Zinc Finger Protein 74	Protein Coding	6.08	DISEASES inferred ¹⁴
6	DGCR6L	DiGeorge Syndrome Critical Region Gene 6 Like	Protein Coding	6.06	DISEASES inferred ¹⁴
7	CLTCL1	Clathrin Heavy Chain Like 1	Protein Coding	5.72	DISEASES inferred ¹⁴
8	TOP3B	DNA Topoisomerase III Beta	Protein Coding	5.66	DISEASES inferred ¹⁴
9	HIRA	Histone Cell Cycle Regulator	Protein Coding	5.5	DISEASES inferred ¹⁴
10	TUBGCP2	Tubulin Gamma Complex Associated Protein 2	Protein Coding	5.43	DISEASES inferred ¹⁴
11	LZTR1	Leucine Zipper Like Transcription Regulator 1	Protein Coding	5.33	DISEASES inferred ¹⁴
12	TUBA8	Tubulin Alpha 8	Protein Coding	5.24	DISEASES inferred ¹⁴
13	UFD1	Ubiquitin Recognition Factor In ER Associated Degradation 1	Protein Coding	5.19	DISEASES inferred ¹⁴
14	FAM149A	Family With Sequence Similarity 149 Member A	Protein Coding	5.16	DISEASES inferred ¹⁴
15	NDUFS6	NADH:Ubiquinone Oxidoreductase Subunit S6	Protein Coding	5.12	DISEASES inferred ¹⁴
16	NIPA1	NIPA Magnesium Transporter 1	Protein Coding	5.1	DISEASES inferred ¹⁴
17	NIPA2	NIPA Magnesium Transporter 2	Protein Coding	5.03	DISEASES inferred ¹⁴
18	NIF3L1	NGG1 Interacting Factor 3 Like 1	Protein Coding	4.96	DISEASES inferred ¹⁴
19	EOGT	EGF Domain Specific O-Linked N-Acetylglucosamine Transferase	Protein Coding	4.95	DISEASES inferred ¹⁴
20	CRKL	CRK Like Proto-Oncogene, Adaptor Protein	Protein Coding	4.94	DISEASES inferred ¹⁴
21	CYFIP1	Cytoplasmic FMR1 Interacting Protein 1	Protein Coding	4.88	DISEASES inferred ¹⁴

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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	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

Sources

Expression for Chromosome 22q11.2 Duplication Syndrome

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

Sources

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	22q11.2 copy number variation syndrome ⁷⁴	11.44	ZNF74 UFD1 TBX1 PRODH LZTR1 HIRA
2	Miscellaneous transport and binding events ⁶⁶	10.57	NIPA2 NIPA1
3	15q11.2 copy number variation syndrome ⁷⁴	10.09	TUBGCP2 NIPA2 NIPA1

Sources

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

Sources for Chromosome 22q11.2 Duplication Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: CHR659 MIFTS: 47	Chromosome 22q11.2 Duplication Syndrome Categories: Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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