MCID: CHR539
MIFTS: 31

Chromosome 22q11.2 Microduplication Syndrome malady

Categories: Rare diseases, Genetic diseases, Fetal diseases

Aliases & Classifications for Chromosome 22q11.2 Microduplication Syndrome

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

Name: Chromosome 22q11.2 Microduplication Syndrome 54 12 25 13 14 69
22q11.2 Microduplication Syndrome 12 50 24 56
22q11.2 Duplication 23 50 24 25
Chromosome 22q11.2 Duplication Syndrome 54 50 25
22q11.2 Duplication Syndrome 50 29
Duplication 22q11.2 12 56
Trisomy 22q11.2 12 56
Dup(22)(q11) 56

Characteristics:

Orphanet epidemiological data:

56
22q11.2 microduplication syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy;

GeneReviews:

23
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:

OMIM 54 608363
Disease Ontology 12 DOID:0060436
ICD10 33 Q92.3
Orphanet 56 ORPHA1727
ICD10 via Orphanet 34 Q92.3

Summaries for Chromosome 22q11.2 Microduplication Syndrome

NIH Rare Diseases : 50 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 seizures, hypertelorism and ptosis. An important gene associated with Chromosome 22q11.2 Microduplication Syndrome is DUP22Q11.2 (Chromosome 22q11.2 Microduplication Syndrome), and among its related pathways/superpathways 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: 608363
GeneReviews: NBK3823

Related Diseases for Chromosome 22q11.2 Microduplication Syndrome

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

(show all 11)
id Related Disease Score Top Affiliating Genes
1 distal 22q11.2 microduplication syndrome 12.0
2 epilepsy 9.9
3 beta-ureidopropionase deficiency 9.8 LZTR1 TBX1 ZNF74
4 autistic disorder 9.7
5 psychotic disorder 9.7
6 schizophrenia 9.7
7 cat eye syndrome 9.7
8 velocardiofacial syndrome 9.7
9 chromosome 16p11.2 deletion syndrome, 220kb 9.7 CECR2 TBX1 ZNF74
10 cataract 17, multiple types 9.2 CECR2 CLTCL1 MED15 TBX1 ZNF74
11 ocular albinism with sensorineural deafness 8.3 BCR CECR2 CLTCL1 DUP22Q11.2 HRAS LZTR1

Graphical network of the top 20 diseases related to Chromosome 22q11.2 Microduplication Syndrome:



Diseases related to Chromosome 22q11.2 Microduplication Syndrome

Symptoms & Phenotypes for Chromosome 22q11.2 Microduplication Syndrome

Symptoms by clinical synopsis from OMIM:

608363

Clinical features from OMIM:

608363

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

56 32 (show all 46)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 hypertelorism 56 32 Frequent (79-30%) HP:0000316
3 ptosis 56 32 Occasional (29-5%) HP:0000508
4 intellectual disability 56 32 Frequent (79-30%) HP:0001249
5 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
6 neurological speech impairment 56 32 Frequent (79-30%) HP:0002167
7 scoliosis 56 32 Occasional (29-5%) HP:0002650
8 hearing impairment 56 32 Occasional (29-5%) HP:0000365
9 global developmental delay 56 32 Frequent (79-30%) HP:0001263
10 delayed speech and language development 56 32 Frequent (79-30%) HP:0000750
11 microcephaly 56 32 Occasional (29-5%) HP:0000252
12 smooth philtrum 56 32 Occasional (29-5%) HP:0000319
13 stereotypy 56 32 Occasional (29-5%) HP:0000733
14 cleft palate 56 32 Frequent (79-30%) HP:0000175
15 micrognathia 56 32 Occasional (29-5%) HP:0000347
16 epicanthus 56 32 Frequent (79-30%) HP:0000286
17 autism 56 32 Occasional (29-5%) HP:0000717
18 attention deficit hyperactivity disorder 56 32 Occasional (29-5%) HP:0007018
19 anxiety 56 32 Occasional (29-5%) HP:0000739
20 growth delay 56 32 Occasional (29-5%) HP:0001510
21 hypoplastic left heart 56 32 Occasional (29-5%) HP:0004383
22 abnormality of immune system physiology 56 32 Occasional (29-5%) HP:0010978
23 depressed nasal ridge 56 32 Frequent (79-30%) HP:0000457
24 narrow face 56 32 Frequent (79-30%) HP:0000275
25 downslanted palpebral fissures 56 32 Frequent (79-30%) HP:0000494
26 aplasia/hypoplasia of the thymus 56 32 Occasional (29-5%) HP:0010515
27 tetralogy of fallot 56 32 Occasional (29-5%) HP:0001636
28 abnormality of the pharynx 56 32 Frequent (79-30%) HP:0000600
29 nasal speech 56 32 Frequent (79-30%) HP:0001611
30 ventricular septal defect 56 32 Occasional (29-5%) HP:0001629
31 obsessive-compulsive behavior 56 32 Occasional (29-5%) HP:0000722
32 high forehead 56 32 Frequent (79-30%) HP:0000348
33 urethral stenosis 56 32 Occasional (29-5%) HP:0008661
34 midface retrusion 56 32 Frequent (79-30%) HP:0011800
35 hydronephrosis 56 32 Occasional (29-5%) HP:0000126
36 displacement of the external urethral meatus 56 32 Occasional (29-5%) HP:0100627
37 wide nose 56 32 Occasional (29-5%) HP:0000445
38 anterior creases of earlobe 56 32 Occasional (29-5%) HP:0009908
39 transposition of the great arteries 56 32 Occasional (29-5%) HP:0001669
40 interrupted aortic arch 56 32 Occasional (29-5%) HP:0011611
41 low-set ears 32 HP:0000369
42 high palate 32 HP:0000218
43 abnormality of the pinna 32 HP:0000377
44 specific learning disability 32 HP:0001328
45 abnormality of cardiovascular system morphology 32 HP:0030680
46 velopharyngeal insufficiency 32 HP:0000220

Drugs & Therapeutics for Chromosome 22q11.2 Microduplication Syndrome

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

Genetic Tests for Chromosome 22q11.2 Microduplication Syndrome

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

id Genetic test Affiliating Genes
1 22q11.2 Duplication Syndrome 29
2 22q11.2 Duplication 24

Anatomical Context for Chromosome 22q11.2 Microduplication Syndrome

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

39
Heart, Thymus

Publications for Chromosome 22q11.2 Microduplication Syndrome

Variations for Chromosome 22q11.2 Microduplication Syndrome

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

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 160819 22 16300000 24300000 Duplication 22q11.2 duplication syndrome

Expression for Chromosome 22q11.2 Microduplication Syndrome

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

Pathways for Chromosome 22q11.2 Microduplication Syndrome

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

id Super pathways Score Top Affiliating Genes
1 10.19 BCR HRAS

GO Terms for Chromosome 22q11.2 Microduplication Syndrome

Sources for Chromosome 22q11.2 Microduplication Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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