MCID: 20P001
MIFTS: 15

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 54 60
Monosomy 20p12.3 54 60
Del(20)(p12.3) 54 60

Characteristics:

Orphanet epidemiological data:

60
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 : 54 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.

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:

60 33 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
3 macrocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000256
4 malar flattening 60 33 frequent (33%) Frequent (79-30%) HP:0000272
5 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
6 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
7 wolff-parkinson-white syndrome 60 33 frequent (33%) Frequent (79-30%) HP:0001716
8 hypoplasia of the maxilla 60 33 frequent (33%) Frequent (79-30%) HP:0000327
9 downslanted palpebral fissures 60 33 frequent (33%) Frequent (79-30%) HP:0000494
10 narrow mouth 60 33 frequent (33%) Frequent (79-30%) HP:0000160
11 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
12 muscular hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001252
13 depressed nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0005280
14 wide nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0000431
15 pectus carinatum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000768
16 microtia 60 33 occasional (7.5%) Occasional (29-5%) HP:0008551
17 broad hallux phalanx 60 33 occasional (7.5%) Occasional (29-5%) HP:0010059
18 broad thumb 60 33 occasional (7.5%) Occasional (29-5%) HP:0011304
19 full cheeks 60 33 occasional (7.5%) Occasional (29-5%) HP:0000293
20 long philtrum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000343
21 atrial septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001631
22 ventriculomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002119
23 thickened helices 60 33 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
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33 HPO
34 ICD10
35 ICD10 via Orphanet
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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