MCID: 20P001
MIFTS: 13

20p12.3 Microdeletion Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for 20p12.3 Microdeletion Syndrome

MalaCards integrated aliases for 20p12.3 Microdeletion Syndrome:

Name: 20p12.3 Microdeletion Syndrome 53 59
Monosomy 20p12.3 53 59
Del(20)(p12.3) 53 59

Characteristics:

Orphanet epidemiological data:

59
20p12.3 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q93.5
Orphanet 59 ORPHA261295

Summaries for 20p12.3 Microdeletion Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 261295Definition20p12.3 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.

MalaCards based summary : 20p12.3 Microdeletion Syndrome, is also known as monosomy 20p12.3. An important gene associated with 20p12.3 Microdeletion Syndrome is BMP2 (Bone Morphogenetic Protein 2). Related phenotypes are hypertelorism and global developmental delay

Related Diseases for 20p12.3 Microdeletion Syndrome

Symptoms & Phenotypes for 20p12.3 Microdeletion Syndrome

Human phenotypes related to 20p12.3 Microdeletion Syndrome:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
3 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
4 malar flattening 59 32 frequent (33%) Frequent (79-30%) HP:0000272
5 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
6 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
7 narrow mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000160
8 wolff-parkinson-white syndrome 59 32 frequent (33%) Frequent (79-30%) HP:0001716
9 hypoplasia of the maxilla 59 32 frequent (33%) Frequent (79-30%) HP:0000327
10 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
11 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
12 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
13 depressed nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0005280
14 wide nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000431
15 pectus carinatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000768
16 microtia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008551
17 broad hallux phalanx 59 32 occasional (7.5%) Occasional (29-5%) HP:0010059
18 broad thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0011304
19 full cheeks 59 32 occasional (7.5%) Occasional (29-5%) HP:0000293
20 long philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000343
21 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
22 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
23 thickened helices 59 32 occasional (7.5%) Occasional (29-5%) HP:0000391

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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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
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72 UMLS
73 UMLS via Orphanet
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