MCID: 20P001
MIFTS: 13

20p12.3 Microdeletion Syndrome malady

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for 20p12.3 Microdeletion Syndrome

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Sources:
46NIH Rare Diseases, 52Orphanet, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for 20p12.3 Microdeletion Syndrome:

Name: 20p12.3 Microdeletion Syndrome 46 52
Monosomy 20p12.3 46 52
 
Del(20)(p12.3) 46 52

Characteristics:

Orphanet epidemiological data:

52
20p12.3 microdeletion syndrome:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet52 ORPHA261295
ICD10 via Orphanet29 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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Symptoms:

 52 (show all 23)
  • narrow mouth
  • macrocephaly
  • malar flattening
  • epicanthus
  • full cheeks
  • hypertelorism
  • hypoplasia of the maxilla
  • long philtrum
  • thickened helices
  • wide nasal bridge
  • downslanted palpebral fissures
  • pectus carinatum
  • seizures
  • muscular hypotonia
  • global developmental delay
  • defect in the atrial septum
  • wolff-parkinson-white syndrome
  • ventriculomegaly
  • short stature
  • depressed nasal bridge
  • microtia
  • broad hallux phalanx
  • broad thumb

HPO human phenotypes related to 20p12.3 Microdeletion Syndrome:

(show all 20)
id Description Frequency HPO Source Accession
1 hypertelorism hallmark (90%) HP:0000316
2 cognitive impairment hallmark (90%) HP:0100543
3 narrow mouth typical (50%) HP:0000160
4 macrocephaly typical (50%) HP:0000256
5 epicanthus typical (50%) HP:0000286
6 downslanted palpebral fissures typical (50%) HP:0000494
7 short stature typical (50%) HP:0004322
8 hypoplasia of the zygomatic bone typical (50%) HP:0010669
9 arrhythmia typical (50%) HP:0011675
10 full cheeks occasional (7.5%) HP:0000293
11 long philtrum occasional (7.5%) HP:0000343
12 thickened helices occasional (7.5%) HP:0000391
13 wide nasal bridge occasional (7.5%) HP:0000431
14 pectus carinatum occasional (7.5%) HP:0000768
15 seizures occasional (7.5%) HP:0001250
16 muscular hypotonia occasional (7.5%) HP:0001252
17 atria septal defect occasional (7.5%) HP:0001631
18 preaxial foot polydactyly occasional (7.5%) HP:0001841
19 ventriculomegaly occasional (7.5%) HP:0002119
20 abnormality of thumb phalanx occasional (7.5%) HP:0009602

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:

34
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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet