MCID: 14Q001
MIFTS: 23

14q12 Microdeletion Syndrome malady

Fetal diseases category

Summaries for 14q12 Microdeletion Syndrome

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MalaCards: 14q12 Microdeletion Syndrome, also known as chromosome deletion, is related to infertility and rett syndrome, and has symptoms including tics/stereotypias, epicanthic folds and long/large/bulbous nose. 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:
48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
14q12 microdeletion syndrome:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

14q12 microdeletion syndrome 48
chromosome deletion 60
monosomy 14q12 48
del(14)(q12) 48


External Ids:

ICD10 via Orphanet26 Q93.5

Related Diseases for 14q12 Microdeletion Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to 14q12 Microdeletion Syndrome:



Diseases related to 14q12 microdeletion syndrome

Clinical Features for 14q12 Microdeletion Syndrome

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48Orphanet
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Symptoms:

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

Drugs & Therapeutics for 14q12 Microdeletion Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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32MalaCards
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MalaCards organs/tissues related to 14q12 Microdeletion Syndrome:

32
Tongue

Animal Models for 14q12 Microdeletion Syndrome or affiliated genes

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Publications for 14q12 Microdeletion Syndrome

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Genetic Variations for 14q12 Microdeletion Syndrome

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Expression for genes affiliated with 14q12 Microdeletion Syndrome

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Sources:
1BioGPS, 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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet