MCID: CHR539
MIFTS: 33

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 50 11 24 13 12 66
22q11.2 Microduplication Syndrome 11 46 23 52
22q11.2 Duplication 22 46 23 24
Chromosome 22q11.2 Duplication Syndrome 50 46 24
 
22q11.2 Duplication Syndrome 46 25
Duplication 22q11.2 11 52
Trisomy 22q11.2 11 52
Dup(22)(q11) 52

Characteristics:

Orphanet epidemiological data:

52
22q11.2 microduplication syndrome:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy

HPO:

62
chromosome 22q11.2 microduplication syndrome:
Inheritance: autosomal dominant inheritance, sporadic


Classifications:



External Ids:

OMIM50 608363
Disease Ontology11 DOID:0060436
ICD1028 Q92.3
Orphanet52 ORPHA1727
ICD10 via Orphanet29 Q92.3

Summaries for Chromosome 22q11.2 Microduplication Syndrome

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NIH Rare Diseases:46 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 abnormality of chromosome segregation, cleft palate and malar flattening. An important gene associated with Chromosome 22q11.2 Microduplication Syndrome is DUP22Q11.2 (Chromosome 22q11.2 Microduplication Syndrome). Affiliated tissues include heart and thymus.

Genetics Home Reference:24 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:50 608363

GeneReviews summary for NBK3823

Related Diseases for Chromosome 22q11.2 Microduplication Syndrome

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



Diseases related to chromosome 22q11.2 microduplication syndrome

Symptoms for Chromosome 22q11.2 Microduplication Syndrome

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Symptoms by clinical synopsis from OMIM:

608363

Clinical features from OMIM:

608363

Symptoms:

 52 (show all 40)
  • hydronephrosis
  • cleft palate
  • microcephaly
  • narrow face
  • epicanthus
  • hypertelorism
  • smooth philtrum
  • micrognathia
  • high forehead
  • hearing impairment
  • wide nose
  • depressed nasal ridge
  • downslanted palpebral fissures
  • ptosis
  • abnormality of the pharynx
  • autism
  • obsessive-compulsive behavior
  • stereotypic behavior
  • anxiety
  • delayed speech and language development
  • intellectual disability
  • seizures
  • muscular hypotonia
  • global developmental delay
  • growth delay
  • nasal speech
  • ventricular septal defect
  • tetralogy of fallot
  • transposition of the great arteries
  • neurological speech impairment
  • scoliosis
  • hypoplastic left heart
  • attention deficit hyperactivity disorder
  • urethral stenosis
  • anterior creases of earlobe
  • aplasia/hypoplasia of the thymus
  • abnormality of immune system physiology
  • interrupted aortic arch
  • midface retrusion
  • displacement of the external urethral meatus

HPO human phenotypes related to Chromosome 22q11.2 Microduplication Syndrome:

(show all 53)
id Description Frequency HPO Source Accession
1 abnormality of chromosome segregation hallmark (90%) HP:0002916
2 cleft palate typical (50%) HP:0000175
3 malar flattening typical (50%) HP:0000272
4 narrow face typical (50%) HP:0000275
5 epicanthus typical (50%) HP:0000286
6 hypertelorism typical (50%) HP:0000316
7 high forehead typical (50%) HP:0000348
8 downslanted palpebral fissures typical (50%) HP:0000494
9 abnormality of the pharynx typical (50%) HP:0000600
10 muscular hypotonia typical (50%) HP:0001252
11 abnormality of the voice typical (50%) HP:0001608
12 neurological speech impairment typical (50%) HP:0002167
13 abnormal nasal morphology typical (50%) HP:0005105
14 cognitive impairment typical (50%) HP:0100543
15 microcephaly occasional (7.5%) HP:0000252
16 abnormality of the philtrum occasional (7.5%) HP:0000288
17 micrognathia occasional (7.5%) HP:0000347
18 hearing impairment occasional (7.5%) HP:0000365
19 ptosis occasional (7.5%) HP:0000508
20 autism occasional (7.5%) HP:0000717
21 obsessive-compulsive behavior occasional (7.5%) HP:0000722
22 stereotypy occasional (7.5%) HP:0000733
23 seizures occasional (7.5%) HP:0001250
24 ventricular septal defect occasional (7.5%) HP:0001629
25 tetralogy of fallot occasional (7.5%) HP:0001636
26 transposition of the great arteries occasional (7.5%) HP:0001669
27 abnormality of the aorta occasional (7.5%) HP:0001679
28 scoliosis occasional (7.5%) HP:0002650
29 hypoplastic left heart occasional (7.5%) HP:0004383
30 attention deficit hyperactivity disorder occasional (7.5%) HP:0007018
31 anterior creases of earlobe occasional (7.5%) HP:0009908
32 aplasia/hypoplasia of the thymus occasional (7.5%) HP:0010515
33 abnormality of the upper urinary tract occasional (7.5%) HP:0010935
34 abnormality of immune system physiology occasional (7.5%) HP:0010978
35 displacement of the external urethral meatus occasional (7.5%) HP:0100627
36 high palate HP:0000218
37 velopharyngeal insufficiency HP:0000220
38 microcephaly HP:0000252
39 epicanthus HP:0000286
40 hypertelorism HP:0000316
41 micrognathia HP:0000347
42 low-set ears HP:0000369
43 abnormality of the pinna HP:0000377
44 depressed nasal ridge HP:0000457
45 downslanted palpebral fissures HP:0000494
46 delayed speech and language development HP:0000750
47 intellectual disability HP:0001249
48 muscular hypotonia HP:0001252
49 global developmental delay HP:0001263
50 specific learning disability HP:0001328
51 growth delay HP:0001510
52 nasal speech HP:0001611
53 abnormality of cardiovascular system morphology 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 Syndrome25
2 22q11.2 Duplication23

Anatomical Context for Chromosome 22q11.2 Microduplication Syndrome

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

34
Heart, Thymus

Animal Models for Chromosome 22q11.2 Microduplication Syndrome or affiliated genes

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

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

idNameGO IDScoreTop Affiliating Genes
1inner ear morphogenesisGO:00424729.7BCR, TBX1

Sources for Chromosome 22q11.2 Microduplication Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet