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 49 10 11 23 12 65
22q11.2 Microduplication Syndrome 10 45 22 51
22q11.2 Duplication 21 45 22 23
Chromosome 22q11.2 Duplication Syndrome 45 23
 
22q11.2 Duplication Syndrome 45 24
Duplication 22q11.2 10 51
Trisomy 22q11.2 10 51
Dup(22)(q11) 51

Characteristics:

Orphanet epidemiological data:

51
22q11.2 microduplication syndrome:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy

HPO:

61
chromosome 22q11.2 microduplication syndrome:
Inheritance: autosomal dominant inheritance, sporadic


Classifications:



External Ids:

OMIM49 608363
Disease Ontology10 DOID:0060436
ICD1027 Q92.3
Orphanet51 1727
ICD10 via Orphanet28 Q92.3
UMLS65 C2675369

Summaries for Chromosome 22q11.2 Microduplication Syndrome

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NIH Rare Diseases:45 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 cat eye syndrome, 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:23 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:49 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:

 51 (show all 40)
  • autosomal dominant inheritance
  • total/partial trisomy/duplication
  • high forehead
  • narrow face
  • hypertelorism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • mid-facial hypoplasia/short/small midface
  • epicanthic folds
  • long/large/bulbous nose
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • anomaly of the pharynx/pharyngeal anomaly
  • abnormal cry/voice/phonation disorder/nasal speech
  • hypotonia
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • microcephaly
  • micrognathia/retrognathia/micrognathism/retrognathism
  • ptosis
  • broad nose/nasal bridge
  • philtrum flat/large/featureless/absent cupidon bows
  • bifid/cleft ear lobe/ear lobe pits
  • hearing loss/hypoacusia/deafness
  • scoliosis
  • hypoplastic left heart/ventricle
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • transposition of great vessels
  • tetralogy of fallot/trilogy of fallot
  • ventricular septal defect/interventricular communication
  • thymic aplasia/hypoplasia
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • urethral anomalies/stenosis/posterior urethral valves/megalocystis
  • hypospadias/epispadias/bent penis
  • tics/stereotypias
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hyperactivity/attention deficit
  • autism/autistic disoders
  • obsessive-compulsive disorder
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • failure to thrive/difficulties for feeding in infancy/growth delay

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 stereotypic behavior 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 Duplication22

Anatomical Context for Chromosome 22q11.2 Microduplication Syndrome

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

33
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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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:00424729.8BCR, TBX1

Sources for Chromosome 22q11.2 Microduplication Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet