MCID: 20P001
MIFTS: 15

20p12.3 Microdeletion Syndrome

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for 20p12.3 Microdeletion Syndrome

MalaCards integrated aliases for 20p12.3 Microdeletion Syndrome:

Name: 20p12.3 Microdeletion Syndrome 50 56
Monosomy 20p12.3 50 56
Del(20)(p12.3) 50 56

Characteristics:

Orphanet epidemiological data:

56
20p12.3 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



Summaries for 20p12.3 Microdeletion Syndrome

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 261295disease definition20p12.3 microdeletion syndrome is a recently described syndrome characterized by wolff-parkinson-white syndrome (see this term), variable developmental delay and facial dysmorphism.epidemiologyit has been clinically and molecularly characterized in 3 patients.clinical descriptiondysmorphic features include macrocephaly, hypertelorism, down-slanting palpebral fissures and microstomia.etiologythis syndrome is caused by an interstitial deletion encompassing 20p12.3. all these deletions except one occurred de novo and were characterized by comparative genomic hybridization (cgh) microarray and fluorescence in situ hybridization (fish). they have a variable size with the smallest region of overlap including only one gene, bmp2, which is a good candidate gene for explaining the phenotype of wolff-parkinson-white syndrome.visit the orphanet disease page for more resources. last updated: 6/10/2011

MalaCards based summary : 20p12.3 Microdeletion Syndrome, is also known as monosomy 20p12.3, and has symptoms including narrow mouth, macrocephaly and malar flattening. An important gene associated with 20p12.3 Microdeletion Syndrome is BMP2 (Bone Morphogenetic Protein 2).

Related Diseases for 20p12.3 Microdeletion Syndrome

Symptoms & Phenotypes for 20p12.3 Microdeletion Syndrome

Human phenotypes related to 20p12.3 Microdeletion Syndrome:

56 32 (show all 24)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 narrow mouth 56 32 frequent (33%) Frequent (79-30%) HP:0000160
2 macrocephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000256
3 malar flattening 56 32 frequent (33%) Frequent (79-30%) HP:0000272
4 epicanthus 56 32 frequent (33%) Frequent (79-30%) HP:0000286
5 full cheeks 56 32 occasional (7.5%) Occasional (29-5%) HP:0000293
6 hypertelorism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000316
7 hypoplasia of the maxilla 56 32 frequent (33%) Frequent (79-30%) HP:0000327
8 long philtrum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000343
9 thickened helices 56 32 occasional (7.5%) Occasional (29-5%) HP:0000391
10 wide nasal bridge 56 32 occasional (7.5%) Occasional (29-5%) HP:0000431
11 downslanted palpebral fissures 56 32 frequent (33%) Frequent (79-30%) HP:0000494
12 pectus carinatum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000768
13 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
14 muscular hypotonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001252
15 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
16 wolff-parkinson-white syndrome 56 32 frequent (33%) Frequent (79-30%) HP:0001716
17 ventriculomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002119
18 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
19 depressed nasal bridge 56 32 occasional (7.5%) Occasional (29-5%) HP:0005280
20 microtia 56 32 occasional (7.5%) Occasional (29-5%) HP:0008551
21 broad hallux phalanx 56 32 occasional (7.5%) Occasional (29-5%) HP:0010059
22 broad thumb 56 32 occasional (7.5%) Occasional (29-5%) HP:0011304
23 atria septal defect 56 Occasional (29-5%)
24 atrial septal defect 32 occasional (7.5%) HP:0001631

Drugs & Therapeutics for 20p12.3 Microdeletion Syndrome

Search Clinical Trials , NIH Clinical Center for 20p12.3 Microdeletion Syndrome

Genetic Tests for 20p12.3 Microdeletion Syndrome

Anatomical Context for 20p12.3 Microdeletion Syndrome

Publications for 20p12.3 Microdeletion Syndrome

Variations for 20p12.3 Microdeletion Syndrome

Expression for 20p12.3 Microdeletion Syndrome

Search GEO for disease gene expression data for 20p12.3 Microdeletion Syndrome.

Pathways for 20p12.3 Microdeletion Syndrome

GO Terms for 20p12.3 Microdeletion Syndrome

Sources for 20p12.3 Microdeletion Syndrome

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70 UMLS via Orphanet
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