MCID: 14Q001
MIFTS: 17

14q12 Microdeletion Syndrome malady

Fetal diseases, Rare diseases categories
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Summaries for 14q12 Microdeletion Syndrome

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33MalaCards
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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:
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
14q12 microdeletion syndrome:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

14q12 microdeletion syndrome 49
chromosome deletion 62
monosomy 14q12 49
del(14)(q12) 49


External Ids:

ICD10 via Orphanet26 Q93.5

Related Diseases for 14q12 Microdeletion Syndrome

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Sources:
17GeneCards, 18GeneDecks
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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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49Orphanet
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Symptoms:

49 (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:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for 14q12 Microdeletion Syndrome

Search NIH Clinical Center for 14q12 Microdeletion Syndrome

Genetic Tests for 14q12 Microdeletion Syndrome

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Anatomical Context for 14q12 Microdeletion Syndrome

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33MalaCards
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MalaCards organs/tissues related to 14q12 Microdeletion Syndrome:

33
Tongue

Animal Models for 14q12 Microdeletion Syndrome or affiliated genes

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Publications for 14q12 Microdeletion Syndrome

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52PubMed
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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, 15Gene 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
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