MCID: 14Q001
MIFTS: 17

14q12 Microdeletion Syndrome malady

Fetal diseases, Rare diseases categories

Summaries for 14q12 Microdeletion Syndrome

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34MalaCards
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MalaCards: 14q12 Microdeletion Syndrome, also known as chromosome deletion, is related to rett syndrome, and has symptoms including prognathism/prognathia, blepharophimosis/short palpebral fissures and puffy eyelids. An important gene associated with 14q12 Microdeletion Syndrome is FOXG1 (forkhead box G1). Affiliated tissues include tongue.

Aliases & Classifications for 14q12 Microdeletion Syndrome

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Sources:
50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
14q12 microdeletion syndrome:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

14q12 microdeletion syndrome 50
chromosome deletion 63
monosomy 14q12 50
del(14)(q12) 50


External Ids:

ICD10 via Orphanet27 Q93.5

Related Diseases for 14q12 Microdeletion Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to 14q12 Microdeletion Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1rett syndrome10.3

Symptoms for 14q12 Microdeletion Syndrome

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50Orphanet
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Symptoms:

50 (show all 30)
  • prognathism/prognathia
  • blepharophimosis/short palpebral fissures
  • puffy eyelids
  • short/small nose
  • philtrum flat/large/featureless/absent cupidon bows
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • kyphosis
  • scoliosis
  • hypersialorrhea
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • corpus callosum/septum pellucidum total/partial agenesis
  • hyperkinesia/dyskinesia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • prominent metopic suture
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • epicanthic folds
  • long/large/bulbous nose
  • depressed nasal bridge
  • everted lower lip
  • tented upper lip
  • prominent/bat ears
  • antihelix anomaly
  • tics/stereotypias
  • hypotonia
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • psychic/psychomotor regression/dementia/intellectual decline
  • insterstitial/subtelomeric microdeletion/deletion
  • microcephaly

Drugs & Therapeutics for 14q12 Microdeletion Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for 14q12 Microdeletion Syndrome

Drug clinical trials:

Search ClinicalTrials for 14q12 Microdeletion Syndrome

Search NIH Clinical Center for 14q12 Microdeletion Syndrome

Search CenterWatch for 14q12 Microdeletion Syndrome

Genetic Tests for 14q12 Microdeletion Syndrome

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Anatomical Context for 14q12 Microdeletion Syndrome

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34MalaCards
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MalaCards organs/tissues related to 14q12 Microdeletion Syndrome:

34
Tongue

Animal Models for 14q12 Microdeletion Syndrome or affiliated genes

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Publications for 14q12 Microdeletion Syndrome

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53PubMed
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Articles related to 14q12 Microdeletion Syndrome:

idTitleAuthorsYear
1
14q12 Microdeletion syndrome and congenital variant of Rett syndrome. (19303466)
2009

Variations for 14q12 Microdeletion Syndrome

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Expression for genes affiliated with 14q12 Microdeletion Syndrome

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with 14q12 Microdeletion Syndrome

Search GEO for disease gene expression data for 14q12 Microdeletion Syndrome.

Pathways for genes affiliated with 14q12 Microdeletion Syndrome

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Compounds for genes affiliated with 14q12 Microdeletion Syndrome

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GO Terms for genes affiliated with 14q12 Microdeletion Syndrome

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Products for genes affiliated with 14q12 Microdeletion Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for 14q12 Microdeletion Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet