MCID: 20P001
MIFTS: 12

20p12.3 Microdeletion Syndrome malady

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for 20p12.3 Microdeletion Syndrome

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Sources:
31ICD10 via Orphanet, 48NIH Rare Diseases, 54Orphanet
See all MalaCards sources

Aliases & Descriptions for 20p12.3 Microdeletion Syndrome:

Name: 20p12.3 Microdeletion Syndrome 48 54
Monosomy 20p12.3 48 54
 
Del(20)(p12.3) 48 54

Characteristics:

Orphanet epidemiological data:

54
20p12.3 microdeletion syndrome:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet54 ORPHA261295
ICD10 via Orphanet31 Q93.5

Summaries for 20p12.3 Microdeletion Syndrome

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MalaCards based summary: 20p12.3 Microdeletion Syndrome, is also known as monosomy 20p12.3, and has symptoms including hypertelorism, cognitive impairment and narrow mouth. An important gene associated with 20p12.3 Microdeletion Syndrome is BMP2 (Bone Morphogenetic Protein 2). Affiliated tissues include bone.

Related Diseases for 20p12.3 Microdeletion Syndrome

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Symptoms & Phenotypes for 20p12.3 Microdeletion Syndrome

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Human phenotypes related to 20p12.3 Microdeletion Syndrome:

 64 54 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism64 54 hallmark (90%) Very frequent (99-80%) HP:0000316
2 cognitive impairment64 hallmark (90%) HP:0100543
3 narrow mouth64 54 typical (50%) Frequent (79-30%) HP:0000160
4 macrocephaly64 54 typical (50%) Frequent (79-30%) HP:0000256
5 epicanthus64 54 typical (50%) Frequent (79-30%) HP:0000286
6 downslanted palpebral fissures64 54 typical (50%) Frequent (79-30%) HP:0000494
7 short stature64 54 typical (50%) Frequent (79-30%) HP:0004322
8 hypoplasia of the zygomatic bone64 typical (50%) HP:0010669
9 arrhythmia64 typical (50%) HP:0011675
10 full cheeks64 54 occasional (7.5%) Occasional (29-5%) HP:0000293
11 long philtrum64 54 occasional (7.5%) Occasional (29-5%) HP:0000343
12 thickened helices64 54 occasional (7.5%) Occasional (29-5%) HP:0000391
13 wide nasal bridge64 54 occasional (7.5%) Occasional (29-5%) HP:0000431
14 pectus carinatum64 54 occasional (7.5%) Occasional (29-5%) HP:0000768
15 seizures64 54 occasional (7.5%) Occasional (29-5%) HP:0001250
16 muscular hypotonia64 54 occasional (7.5%) Occasional (29-5%) HP:0001252
17 atria septal defect64 occasional (7.5%) HP:0001631
18 preaxial foot polydactyly64 occasional (7.5%) HP:0001841
19 ventriculomegaly64 54 occasional (7.5%) Occasional (29-5%) HP:0002119
20 abnormality of thumb phalanx64 occasional (7.5%) HP:0009602
21 malar flattening54 Frequent (79-30%)
22 hypoplasia of the maxilla54 Frequent (79-30%)
23 global developmental delay54 Very frequent (99-80%)
24 defect in the atrial septum54 Occasional (29-5%)
25 wolff-parkinson-white syndrome54 Frequent (79-30%)
26 depressed nasal bridge54 Occasional (29-5%)
27 microtia54 Occasional (29-5%)
28 broad hallux phalanx54 Occasional (29-5%)
29 broad thumb54 Occasional (29-5%)

Drugs & Therapeutics for 20p12.3 Microdeletion Syndrome

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Interventional clinical trials:

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

Genetic Tests for 20p12.3 Microdeletion Syndrome

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Anatomical Context for 20p12.3 Microdeletion Syndrome

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MalaCards organs/tissues related to 20p12.3 Microdeletion Syndrome:

36
Bone

Publications for 20p12.3 Microdeletion Syndrome

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Variations for 20p12.3 Microdeletion Syndrome

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Expression for genes affiliated with 20p12.3 Microdeletion Syndrome

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

Pathways for genes affiliated with 20p12.3 Microdeletion Syndrome

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GO Terms for genes affiliated with 20p12.3 Microdeletion Syndrome

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Sources for 20p12.3 Microdeletion Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet