MCID: 20P001
MIFTS: 15

20p12.3 Microdeletion Syndrome malady

Fetal diseases, Rare diseases categories
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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, intellectual deficit/mental/psychomotor retardation/learning disability and insterstitial/subtelomeric microdeletion/deletion. An important gene associated with 20p12.3 Microdeletion Syndrome is BMP2 (bone morphogenetic protein 2). Affiliated tissues include bone and heart.

Aliases & Classifications for 20p12.3 Microdeletion Syndrome

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Sources:
48Orphanet, 26ICD10 via Orphanet
See all sources

20p12.3 Microdeletion Syndrome, Aliases & Descriptions:

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


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases, Rare diseases


Characteristics (Orphanet epidemiological data):

48
20p12.3 microdeletion syndrome:
Inheritance: Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

ICD10 via Orphanet26 Q93.5

Related Diseases for 20p12.3 Microdeletion Syndrome

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Symptoms for 20p12.3 Microdeletion Syndrome

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Symptoms:

48 (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 cheekbone underdevelopment 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 defect in the atrial septum 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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Drug clinical trials:

Search ClinicalTrials for 20p12.3 Microdeletion Syndrome

Search 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:

32
Bone, Heart

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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Expression patterns in normal tissues for genes affiliated with 20p12.3 Microdeletion Syndrome

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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Compounds 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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Products for genes affiliated with 20p12.3 Microdeletion Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for 20p12.3 Microdeletion Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet