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 20 58
Monosomy 20p12.3 20 58
Del(20)(p12.3) 20 58

Characteristics:

Orphanet epidemiological data:

58
20p12.3 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for 20p12.3 Microdeletion Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 261295 Definition 20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism. Epidemiology It has been clinically and molecularly characterized in 3 patients. Clinical description Dysmorphic features include macrocephaly, hypertelorism, down-slanting palpebral fissures and microstomia. Etiology This 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.

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 global developmental delay and hypertelorism

Related Diseases for 20p12.3 Microdeletion Syndrome

Symptoms & Phenotypes for 20p12.3 Microdeletion Syndrome

Human phenotypes related to 20p12.3 Microdeletion Syndrome:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
4 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
5 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
6 hypoplasia of the maxilla 58 31 frequent (33%) Frequent (79-30%) HP:0000327
7 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
8 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
9 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
10 wolff-parkinson-white syndrome 58 31 frequent (33%) Frequent (79-30%) HP:0001716
11 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
12 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000431
13 pectus carinatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000768
14 microtia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008551
15 broad hallux phalanx 58 31 occasional (7.5%) Occasional (29-5%) HP:0010059
16 broad thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0011304
17 full cheeks 58 31 occasional (7.5%) Occasional (29-5%) HP:0000293
18 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
19 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
20 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
21 thickened helices 58 31 occasional (7.5%) Occasional (29-5%) HP:0000391
22 seizure 31 occasional (7.5%) HP:0001250
23 hypotonia 31 occasional (7.5%) HP:0001252
24 seizures 58 Occasional (29-5%)
25 muscular hypotonia 58 Occasional (29-5%)

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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