MCID: 20P001
MIFTS: 14

20p12.3 Microdeletion Syndrome malady

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for 20p12.3 Microdeletion Syndrome

About this section
Sources:
45NIH Rare Diseases, 51Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for 20p12.3 Microdeletion Syndrome:

Name: 20p12.3 Microdeletion Syndrome 45 51
Monosomy 20p12.3 45 51
 
Del(20)(p12.3) 45 51

Characteristics:

Orphanet epidemiological data:

51
20p12.3 microdeletion syndrome:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet51 261295
ICD10 via Orphanet28 Q93.5

Summaries for 20p12.3 Microdeletion Syndrome

About this section
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 and heart.

Related Diseases for 20p12.3 Microdeletion Syndrome

About this section

Symptoms for 20p12.3 Microdeletion Syndrome

About this section

Symptoms:

 51 (show all 24)
  • hypertelorism
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • insterstitial/subtelomeric microdeletion/deletion
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • flat cheek bones/malar hypoplasia
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • epicanthic folds
  • microstomia/little mouth
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • short stature/dwarfism/nanism
  • broad cheeks/cherub-like/cherubin face
  • broad nose/nasal bridge
  • broad nasal root
  • long philtrum
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • helix thickened/sculpted
  • pectus carinatum
  • broad/bifid thumb
  • broad/bifid big toe
  • atrial septal defect/interauricular communication
  • dilated cerebral ventricles without hydrocephaly
  • hypotonia
  • seizures/epilepsy/absences/spasms/status epilepticus

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

About this section

Interventional clinical trials:

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

Genetic Tests for 20p12.3 Microdeletion Syndrome

About this section

Anatomical Context for 20p12.3 Microdeletion Syndrome

About this section

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

33
Bone, Heart

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

About this section

Publications for 20p12.3 Microdeletion Syndrome

About this section

Variations for 20p12.3 Microdeletion Syndrome

About this section

Expression for genes affiliated with 20p12.3 Microdeletion Syndrome

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

Pathways for genes affiliated with 20p12.3 Microdeletion Syndrome

About this section

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

About this section

Sources for 20p12.3 Microdeletion Syndrome

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet