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 51 11 25 12 13 67
22q11.2 Microduplication Syndrome 11 47 24 53
22q11.2 Duplication 23 47 24 25
Chromosome 22q11.2 Duplication Syndrome 51 47 25
 
22q11.2 Duplication Syndrome 47 26
Duplication 22q11.2 11 53
Trisomy 22q11.2 11 53
Dup(22)(q11) 53

Characteristics:

Orphanet epidemiological data:

53
22q11.2 microduplication syndrome:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy

HPO:

63
chromosome 22q11.2 microduplication syndrome:
Inheritance: autosomal dominant inheritance, sporadic

Classifications:



External Ids:

OMIM51 608363
Disease Ontology11 DOID:0060436
ICD1029 Q92.3
Orphanet53 ORPHA1727
ICD10 via Orphanet30 Q92.3

Summaries for Chromosome 22q11.2 Microduplication Syndrome

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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.

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.

Description from OMIM:51 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 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:

 63 53 (show all 54)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of chromosome segregation63 hallmark (90%) HP:0002916
2 cleft palate63 53 typical (50%) Frequent (79-30%) HP:0000175
3 malar flattening63 typical (50%) HP:0000272
4 narrow face63 53 typical (50%) Frequent (79-30%) HP:0000275
5 epicanthus63 53 typical (50%) Frequent (79-30%) HP:0000286
6 hypertelorism63 53 typical (50%) Frequent (79-30%) HP:0000316
7 high forehead63 53 typical (50%) Frequent (79-30%) HP:0000348
8 downslanted palpebral fissures63 53 typical (50%) Frequent (79-30%) HP:0000494
9 abnormality of the pharynx63 53 typical (50%) Frequent (79-30%) HP:0000600
10 muscular hypotonia63 53 typical (50%) Frequent (79-30%) HP:0001252
11 abnormality of the voice63 typical (50%) HP:0001608
12 neurological speech impairment63 53 typical (50%) Frequent (79-30%) HP:0002167
13 abnormal nasal morphology63 typical (50%) HP:0005105
14 cognitive impairment63 typical (50%) HP:0100543
15 microcephaly63 53 occasional (7.5%) Occasional (29-5%) HP:0000252
16 abnormality of the philtrum63 occasional (7.5%) HP:0000288
17 micrognathia63 53 occasional (7.5%) Occasional (29-5%) HP:0000347
18 hearing impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0000365
19 ptosis63 53 occasional (7.5%) Occasional (29-5%) HP:0000508
20 autism63 53 occasional (7.5%) Occasional (29-5%) HP:0000717
21 obsessive-compulsive behavior63 53 occasional (7.5%) Occasional (29-5%) HP:0000722
22 stereotypy63 53 occasional (7.5%) Occasional (29-5%) HP:0000733
23 seizures63 53 occasional (7.5%) Occasional (29-5%) HP:0001250
24 ventricular septal defect63 53 occasional (7.5%) Occasional (29-5%) HP:0001629
25 tetralogy of fallot63 53 occasional (7.5%) Occasional (29-5%) HP:0001636
26 transposition of the great arteries63 53 occasional (7.5%) Occasional (29-5%) HP:0001669
27 abnormality of the aorta63 occasional (7.5%) HP:0001679
28 scoliosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002650
29 hypoplastic left heart63 53 occasional (7.5%) Occasional (29-5%) HP:0004383
30 attention deficit hyperactivity disorder63 53 occasional (7.5%) Occasional (29-5%) HP:0007018
31 anterior creases of earlobe63 53 occasional (7.5%) Occasional (29-5%) HP:0009908
32 aplasia/hypoplasia of the thymus63 53 occasional (7.5%) Occasional (29-5%) HP:0010515
33 abnormality of the upper urinary tract63 occasional (7.5%) HP:0010935
34 abnormality of immune system physiology63 53 occasional (7.5%) Occasional (29-5%) HP:0010978
35 displacement of the external urethral meatus63 53 occasional (7.5%) Occasional (29-5%) HP:0100627
36 high palate63 HP:0000218
37 velopharyngeal insufficiency63 HP:0000220
38 low-set ears63 HP:0000369
39 abnormality of the pinna63 HP:0000377
40 depressed nasal ridge63 53 Frequent (79-30%) HP:0000457
41 delayed speech and language development63 53 Frequent (79-30%) HP:0000750
42 intellectual disability63 53 Frequent (79-30%) HP:0001249
43 global developmental delay63 53 Frequent (79-30%) HP:0001263
44 specific learning disability63 HP:0001328
45 growth delay63 53 Occasional (29-5%) HP:0001510
46 nasal speech63 53 Frequent (79-30%) HP:0001611
47 abnormality of cardiovascular system morphology63 HP:0030680
48 hydronephrosis53 Occasional (29-5%)
49 smooth philtrum53 Occasional (29-5%)
50 wide nose53 Occasional (29-5%)
51 anxiety53 Occasional (29-5%)
52 urethral stenosis53 Occasional (29-5%)
53 interrupted aortic arch53 Occasional (29-5%)
54 midface retrusion53 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 Syndrome26
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:

35
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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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:00424729.8BCR, TBX1
2social behaviorGO:00351769.7HRAS, TBX1

Sources for Chromosome 22q11.2 Microduplication Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet