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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33MalaCards
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MalaCards: 20p12.3 Microdeletion Syndrome, is also known as chromosome deletion, and has symptoms including long philtrum, microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia and helix thickened/sculpted. 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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49Orphanet, 62UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
20p12.3 microdeletion syndrome:
Inheritance: Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

20p12.3 microdeletion syndrome 49
chromosome deletion 62
monosomy 20p12.3 49
del(20)(p12.3) 49


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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Sources:
49Orphanet
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Symptoms:

49 (show all 24)
  • 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
  • broad nasal root
  • broad nose/nasal bridge
  • 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
  • hypertelorism

Drugs & Therapeutics for 20p12.3 Microdeletion Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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33MalaCards
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MalaCards organs/tissues related to 20p12.3 Microdeletion Syndrome:

33
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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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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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
  • Antibodies

Sources for 20p12.3 Microdeletion Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet