MCID: CHR539
MIFTS: 31

Chromosome 22q11.2 Microduplication Syndrome malady

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Chromosome 22q11.2 Microduplication Syndrome

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Aliases & Descriptions for Chromosome 22q11.2 Microduplication Syndrome:

Name: Chromosome 22q11.2 Microduplication Syndrome 52 11 25 12 13 68
22q11.2 Microduplication Syndrome 11 48 24 54
22q11.2 Duplication 23 48 24 25
Chromosome 22q11.2 Duplication Syndrome 52 48 25
 
22q11.2 Duplication Syndrome 48 27
Duplication 22q11.2 11 54
Trisomy 22q11.2 11 54
Dup(22)(q11) 54

Characteristics:

Orphanet epidemiological data:

54
22q11.2 microduplication syndrome:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy

HPO:

64
chromosome 22q11.2 microduplication syndrome:
Inheritance: autosomal dominant inheritance, sporadic

GeneReviews:

23
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:



External Ids:

OMIM52 608363
Disease Ontology11 DOID:0060436
ICD1030 Q92.3
Orphanet54 ORPHA1727
ICD10 via Orphanet31 Q92.3

Summaries for Chromosome 22q11.2 Microduplication Syndrome

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NIH Rare Diseases:48 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 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. last updated: 3/23/2016

MalaCards based summary: Chromosome 22q11.2 Microduplication Syndrome, also known as 22q11.2 microduplication syndrome, is related to distal 22q11.2 microduplication syndrome and epilepsy, and has symptoms including Array, Array and Array. An important gene associated with Chromosome 22q11.2 Microduplication Syndrome is DUP22Q11.2 (Chromosome 22q11.2 Microduplication Syndrome), and among its related pathways is G-protein signaling_H-RAS regulation pathway. Affiliated tissues include heart and thymus.

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.

Description from OMIM:52 608363

GeneReviews for NBK3823

Related Diseases for Chromosome 22q11.2 Microduplication Syndrome

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

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1distal 22q11.2 microduplication syndrome12.0
2epilepsy9.9
3beta-ureidopropionase deficiency9.8LZTR1, TBX1, ZNF74
4schizophrenia9.7
5cat eye syndrome9.7
6velocardiofacial syndrome9.7
7autistic disorder9.7
8psychotic disorder9.7
9chromosome 16p11.2 deletion syndrome, 220kb9.7CECR2, TBX1, ZNF74
10cataract 17, multiple types9.2CECR2, CLTCL1, MED15, TBX1, ZNF74
11ocular albinism with sensorineural deafness8.3BCR, CECR2, CLTCL1, DUP22Q11.2, HRAS, LZTR1

Graphical network of diseases related to Chromosome 22q11.2 Microduplication Syndrome:



Diseases related to chromosome 22q11.2 microduplication syndrome

Symptoms & Phenotypes for Chromosome 22q11.2 Microduplication Syndrome

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Symptoms by clinical synopsis from OMIM:

608363

Clinical features from OMIM:

608363

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

 54 64 (show all 46)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydronephrosis64 54 Occasional (29-5%) HP:0000126
2 cleft palate64 54 Frequent (79-30%) HP:0000175
3 microcephaly64 54 Occasional (29-5%) HP:0000252
4 narrow face64 54 Frequent (79-30%) HP:0000275
5 epicanthus64 54 Frequent (79-30%) HP:0000286
6 hypertelorism64 54 Frequent (79-30%) HP:0000316
7 smooth philtrum64 54 Occasional (29-5%) HP:0000319
8 micrognathia64 54 Occasional (29-5%) HP:0000347
9 high forehead64 54 Frequent (79-30%) HP:0000348
10 hearing impairment64 54 Occasional (29-5%) HP:0000365
11 wide nose64 54 Occasional (29-5%) HP:0000445
12 depressed nasal ridge64 54 Frequent (79-30%) HP:0000457
13 downslanted palpebral fissures64 54 Frequent (79-30%) HP:0000494
14 ptosis64 54 Occasional (29-5%) HP:0000508
15 abnormality of the pharynx64 54 Frequent (79-30%) HP:0000600
16 autism64 54 Occasional (29-5%) HP:0000717
17 obsessive-compulsive behavior64 54 Occasional (29-5%) HP:0000722
18 stereotypy64 54 Occasional (29-5%) HP:0000733
19 anxiety64 54 Occasional (29-5%) HP:0000739
20 delayed speech and language development64 54 Frequent (79-30%) HP:0000750
21 intellectual disability64 54 Frequent (79-30%) HP:0001249
22 seizures64 54 Occasional (29-5%) HP:0001250
23 muscular hypotonia64 54 Frequent (79-30%) HP:0001252
24 global developmental delay64 54 Frequent (79-30%) HP:0001263
25 growth delay64 54 Occasional (29-5%) HP:0001510
26 nasal speech64 54 Frequent (79-30%) HP:0001611
27 ventricular septal defect64 54 Occasional (29-5%) HP:0001629
28 tetralogy of fallot64 54 Occasional (29-5%) HP:0001636
29 transposition of the great arteries64 54 Occasional (29-5%) HP:0001669
30 neurological speech impairment64 54 Frequent (79-30%) HP:0002167
31 scoliosis64 54 Occasional (29-5%) HP:0002650
32 hypoplastic left heart64 54 Occasional (29-5%) HP:0004383
33 attention deficit hyperactivity disorder64 54 Occasional (29-5%) HP:0007018
34 urethral stenosis64 54 Occasional (29-5%) HP:0008661
35 anterior creases of earlobe64 54 Occasional (29-5%) HP:0009908
36 aplasia/hypoplasia of the thymus64 54 Occasional (29-5%) HP:0010515
37 abnormality of immune system physiology64 54 Occasional (29-5%) HP:0010978
38 interrupted aortic arch64 54 Occasional (29-5%) HP:0011611
39 midface retrusion64 54 Frequent (79-30%) HP:0011800
40 displacement of the external urethral meatus64 54 Occasional (29-5%) HP:0100627
41 high palate64 HP:0000218
42 velopharyngeal insufficiency64 HP:0000220
43 low-set ears64 HP:0000369
44 abnormality of the pinna64 HP:0000377
45 specific learning disability64 HP:0001328
46 abnormality of cardiovascular system morphology64 HP:0030680

Drugs & Therapeutics for Chromosome 22q11.2 Microduplication Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Chromosome 22q11.2 Microduplication Syndrome

Genetic Tests for Chromosome 22q11.2 Microduplication Syndrome

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

id Genetic test Affiliating Genes
1 22q11.2 Duplication Syndrome27
2 22q11.2 Duplication24

Anatomical Context for Chromosome 22q11.2 Microduplication Syndrome

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

36
Heart, Thymus

Publications for Chromosome 22q11.2 Microduplication Syndrome

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Variations for Chromosome 22q11.2 Microduplication Syndrome

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

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1160819221630000024300000Duplication22q11.2 duplication syndrome

Expression for genes affiliated with Chromosome 22q11.2 Microduplication Syndrome

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

Pathways for genes affiliated with Chromosome 22q11.2 Microduplication Syndrome

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

idSuper pathwaysScoreTop Affiliating Genes
19.5BCR, HRAS

GO Terms for genes affiliated with Chromosome 22q11.2 Microduplication Syndrome

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Sources for Chromosome 22q11.2 Microduplication Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet