MCID: CHR539
MIFTS: 32

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

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 leopard syndrome 1, 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), 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
2leopard syndrome 19.9HRAS, LZTR1
3epilepsy9.9
4schizophrenia9.7
5cat eye syndrome9.7
6velocardiofacial syndrome9.7
7autistic disorder9.7
8psychotic disorder9.7
9beta-ureidopropionase deficiency9.1LZTR1, TBX1, ZNF74
10cataract 17, multiple types8.4CECR2, CLTCL1, MED15, TBX1, ZNF74
11ocular albinism with sensorineural deafness6.6BCR, CECR2, CLTCL1, DUP22Q11.2, LZTR1, MED15

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:

 64 54 (show all 54)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of chromosome segregation64 hallmark (90%) HP:0002916
2 cleft palate64 54 typical (50%) Frequent (79-30%) HP:0000175
3 malar flattening64 typical (50%) HP:0000272
4 narrow face64 54 typical (50%) Frequent (79-30%) HP:0000275
5 epicanthus64 54 typical (50%) Frequent (79-30%) HP:0000286
6 hypertelorism64 54 typical (50%) Frequent (79-30%) HP:0000316
7 high forehead64 54 typical (50%) Frequent (79-30%) HP:0000348
8 downslanted palpebral fissures64 54 typical (50%) Frequent (79-30%) HP:0000494
9 abnormality of the pharynx64 54 typical (50%) Frequent (79-30%) HP:0000600
10 muscular hypotonia64 54 typical (50%) Frequent (79-30%) HP:0001252
11 abnormality of the voice64 typical (50%) HP:0001608
12 neurological speech impairment64 54 typical (50%) Frequent (79-30%) HP:0002167
13 abnormal nasal morphology64 typical (50%) HP:0005105
14 cognitive impairment64 typical (50%) HP:0100543
15 microcephaly64 54 occasional (7.5%) Occasional (29-5%) HP:0000252
16 abnormality of the philtrum64 occasional (7.5%) HP:0000288
17 micrognathia64 54 occasional (7.5%) Occasional (29-5%) HP:0000347
18 hearing impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0000365
19 ptosis64 54 occasional (7.5%) Occasional (29-5%) HP:0000508
20 autism64 54 occasional (7.5%) Occasional (29-5%) HP:0000717
21 obsessive-compulsive behavior64 54 occasional (7.5%) Occasional (29-5%) HP:0000722
22 stereotypy64 54 occasional (7.5%) Occasional (29-5%) HP:0000733
23 seizures64 54 occasional (7.5%) Occasional (29-5%) HP:0001250
24 ventricular septal defect64 54 occasional (7.5%) Occasional (29-5%) HP:0001629
25 tetralogy of fallot64 54 occasional (7.5%) Occasional (29-5%) HP:0001636
26 transposition of the great arteries64 54 occasional (7.5%) Occasional (29-5%) HP:0001669
27 abnormality of the aorta64 occasional (7.5%) HP:0001679
28 scoliosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002650
29 hypoplastic left heart64 54 occasional (7.5%) Occasional (29-5%) HP:0004383
30 attention deficit hyperactivity disorder64 54 occasional (7.5%) Occasional (29-5%) HP:0007018
31 anterior creases of earlobe64 54 occasional (7.5%) Occasional (29-5%) HP:0009908
32 aplasia/hypoplasia of the thymus64 54 occasional (7.5%) Occasional (29-5%) HP:0010515
33 abnormality of the upper urinary tract64 occasional (7.5%) HP:0010935
34 abnormality of immune system physiology64 54 occasional (7.5%) Occasional (29-5%) HP:0010978
35 displacement of the external urethral meatus64 54 occasional (7.5%) Occasional (29-5%) HP:0100627
36 high palate64 HP:0000218
37 velopharyngeal insufficiency64 HP:0000220
38 low-set ears64 HP:0000369
39 abnormality of the pinna64 HP:0000377
40 depressed nasal ridge64 54 Frequent (79-30%) HP:0000457
41 delayed speech and language development64 54 Frequent (79-30%) HP:0000750
42 intellectual disability64 54 Frequent (79-30%) HP:0001249
43 global developmental delay64 54 Frequent (79-30%) HP:0001263
44 specific learning disability64 HP:0001328
45 growth delay64 54 Occasional (29-5%) HP:0001510
46 nasal speech64 54 Frequent (79-30%) HP:0001611
47 abnormality of cardiovascular system morphology64 HP:0030680
48 hydronephrosis54 Occasional (29-5%)
49 smooth philtrum54 Occasional (29-5%)
50 wide nose54 Occasional (29-5%)
51 anxiety54 Occasional (29-5%)
52 urethral stenosis54 Occasional (29-5%)
53 interrupted aortic arch54 Occasional (29-5%)
54 midface retrusion54 Frequent (79-30%)

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

idNameGO IDScoreTop Affiliating Genes
1inner ear morphogenesisGO:004247210.2BCR, TBX1
2social behaviorGO:00351769.7HRAS, TBX1

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