MCID: 22Q001
MIFTS: 37

22q11.2 Duplication malady

Genetic diseases, Rare diseases, Fetal diseases categories

Summaries for 22q11.2 Duplication

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22Genetics Home Reference, 44NIH Rare Diseases, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 22q11.2 duplication syndrome is a condition caused by an extra copy of a small piece of chromosome 22. 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 condition have no apparent physical or intellectual disabilities. it is inherited in an autosomal dominant manner, with about 70 percent of affected individuals inheriting the condition from a parent. in other cases it occurs as a de novo mutation (new genetic change) in an individual; however, individuals with a de novo mutation can can pass the duplication to their children. last updated: 5/10/2011

MalaCards: 22q11.2 Duplication, also known as chromosome 22q11.2 duplication syndrome, is related to distal 22q11.2 microduplication syndrome and congenital aural atresia, and has symptoms including megaureter/hydronephrosis/pyeloureteral junction syndrome, thymic aplasia/hypoplasia and ventricular septal defect/interventricular communication. An important gene associated with 22q11.2 Duplication is DUP22Q11.2 (Chromosome 22q11.2 microduplication syndrome). Affiliated tissues include heart and eye.

Genetics Home Reference:22 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.

Description from OMIM:48 608363

GeneReviews summary for dupl22q11

Aliases & Classifications for 22q11.2 Duplication

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20GeneReviews, 44NIH Rare Diseases, 22Genetics Home Reference, 21GeneTests, 23GTR, 50Orphanet, 48OMIM, 63UMLS, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases


Characteristics (Orphanet epidemiological data):

50
22q11.2 microduplication syndrome:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Neonatal/infancy


Aliases & Descriptions:

22q11.2 duplication 20 44 22
chromosome 22q11.2 duplication syndrome 44 22 63
22q11.2 microduplication syndrome 44 50 48
22q11.2 duplication syndrome 44 21 23
chromosome 22q11.2 microduplication syndrome 22 48
gene duplication abnormality 63
duplication 22q11.2 50
trisomy 22q11.2 50
dup(22)(q11) 50


External Ids:

OMIM48 608363
ICD10 via Orphanet27 Q92.3

Related Diseases for 22q11.2 Duplication

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18GeneCards, 19GeneDecks
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Diseases related to 22q11.2 Duplication via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1distal 22q11.2 microduplication syndrome10.4
2congenital aural atresia10.3
3velocardiofacial syndrome10.1
4autistic disorder10.1
5schizophrenia10.1
6cat eye syndrome10.1
7mental retardation10.1

Graphical network of diseases related to 22q11.2 Duplication:



Diseases related to 22q11.2 duplication

Symptoms for 22q11.2 Duplication

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

608363

Clinical features from OMIM:

608363

Symptoms:

50 (show all 40)
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • thymic aplasia/hypoplasia
  • ventricular septal defect/interventricular communication
  • tetralogy of fallot/trilogy of fallot
  • transposition of great vessels
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • hypoplastic left heart/ventricle
  • scoliosis
  • urethral anomalies/stenosis/posterior urethral valves/megalocystis
  • hypospadias/epispadias/bent penis
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • obsessive-compulsive disorder
  • autism/autistic disoders
  • hyperactivity/attention deficit
  • seizures/epilepsy/absences/spasms/status epilepticus
  • tics/stereotypias
  • hearing loss/hypoacusia/deafness
  • bifid/cleft ear lobe/ear lobe pits
  • long/large/bulbous nose
  • epicanthic folds
  • mid-facial hypoplasia/short/small midface
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • hypertelorism
  • narrow face
  • high forehead
  • total/partial trisomy/duplication
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • anomaly of the pharynx/pharyngeal anomaly
  • abnormal cry/voice/phonation disorder/nasal speech
  • philtrum flat/large/featureless/absent cupidon bows
  • broad nose/nasal bridge
  • ptosis
  • micrognathia/retrognathia/micrognathism/retrognathism
  • microcephaly
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • hypotonia
  • autosomal dominant inheritance

Drugs & Therapeutics for 22q11.2 Duplication

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for 22q11.2 Duplication

Drug clinical trials:

Search ClinicalTrials for 22q11.2 Duplication

Search NIH Clinical Center for 22q11.2 Duplication

Search CenterWatch for 22q11.2 Duplication

Genetic Tests for 22q11.2 Duplication

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21GeneTests, 23GTR
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Genetic tests related to 22q11.2 Duplication:

id Genetic test Affiliating Genes
1 22q11.2 Duplication21
2 22q11.2 Duplication Syndrome23

Anatomical Context for 22q11.2 Duplication

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34MalaCards
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MalaCards organs/tissues related to 22q11.2 Duplication:

34
Heart, Eye

Animal Models for 22q11.2 Duplication or affiliated genes

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Publications for 22q11.2 Duplication

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53PubMed
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Articles related to 22q11.2 Duplication:

(show all 11)
idTitleAuthorsYear
1
Chromosome 22q11.2 duplication is rare in a population-based cohort of Danish children with cardiovascular malformations. (22302736)
2012
2
Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes. (22987734)
2012
3
22q11.2 duplication and congenital heart defects. (19936446)
2009
4
Association of syndromic mental retardation and autism with 22q11.2 duplication. (20020400)
2009
5
Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia. (18284679)
2008
6
Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication. (18076674)
2008
7
Clinical variability of the 22q11.2 duplication syndrome. (18707033)
2008
8
Autistic disorder and 22q11.2 duplication. (17455106)
2007
9
22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes. (16007629)
2005
10
The gene for death agonist BID maps to the region of human 22q11.2 duplicated in cat eye syndrome chromosomes and to mouse chromosome 6. (9721221)
1998
11
22q11.2 Duplication (20301749)
1993

Variations for 22q11.2 Duplication

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Expression for genes affiliated with 22q11.2 Duplication

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with 22q11.2 Duplication

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

Pathways for genes affiliated with 22q11.2 Duplication

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Compounds for genes affiliated with 22q11.2 Duplication

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GO Terms for genes affiliated with 22q11.2 Duplication

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Products for genes affiliated with 22q11.2 Duplication

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  • Antibodies
  • Proteins
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Sources for 22q11.2 Duplication

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet