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:
30ICD10 via Orphanet, 47NIH Rare Diseases, 53Orphanet
See all MalaCards sources

Aliases & Descriptions for 20p12.3 Microdeletion Syndrome:

Name: 20p12.3 Microdeletion Syndrome 47 53
Monosomy 20p12.3 47 53
 
Del(20)(p12.3) 47 53

Characteristics:

Orphanet epidemiological data:

53
20p12.3 microdeletion syndrome:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet53 ORPHA261295
ICD10 via Orphanet30 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 for 20p12.3 Microdeletion Syndrome

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Human phenotypes related to 20p12.3 Microdeletion Syndrome:

 63 53 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism63 53 hallmark (90%) Very frequent (99-80%) HP:0000316
2 cognitive impairment63 hallmark (90%) HP:0100543
3 narrow mouth63 53 typical (50%) Frequent (79-30%) HP:0000160
4 macrocephaly63 53 typical (50%) Frequent (79-30%) HP:0000256
5 epicanthus63 53 typical (50%) Frequent (79-30%) HP:0000286
6 downslanted palpebral fissures63 53 typical (50%) Frequent (79-30%) HP:0000494
7 short stature63 53 typical (50%) Frequent (79-30%) HP:0004322
8 hypoplasia of the zygomatic bone63 typical (50%) HP:0010669
9 arrhythmia63 typical (50%) HP:0011675
10 full cheeks63 53 occasional (7.5%) Occasional (29-5%) HP:0000293
11 long philtrum63 53 occasional (7.5%) Occasional (29-5%) HP:0000343
12 thickened helices63 53 occasional (7.5%) Occasional (29-5%) HP:0000391
13 wide nasal bridge63 53 occasional (7.5%) Occasional (29-5%) HP:0000431
14 pectus carinatum63 53 occasional (7.5%) Occasional (29-5%) HP:0000768
15 seizures63 53 occasional (7.5%) Occasional (29-5%) HP:0001250
16 muscular hypotonia63 53 occasional (7.5%) Occasional (29-5%) HP:0001252
17 atria septal defect63 occasional (7.5%) HP:0001631
18 preaxial foot polydactyly63 occasional (7.5%) HP:0001841
19 ventriculomegaly63 53 occasional (7.5%) Occasional (29-5%) HP:0002119
20 abnormality of thumb phalanx63 occasional (7.5%) HP:0009602
21 malar flattening53 Frequent (79-30%)
22 hypoplasia of the maxilla53 Frequent (79-30%)
23 global developmental delay53 Very frequent (99-80%)
24 defect in the atrial septum53 Occasional (29-5%)
25 wolff-parkinson-white syndrome53 Frequent (79-30%)
26 depressed nasal bridge53 Occasional (29-5%)
27 microtia53 Occasional (29-5%)
28 broad hallux phalanx53 Occasional (29-5%)
29 broad thumb53 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:

35
Bone

Animal Models for 20p12.3 Microdeletion Syndrome or affiliated genes

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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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet