MCID: 14Q001
MIFTS: 16

14q12 Microdeletion Syndrome malady

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

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MalaCards based summary: 14q12 Microdeletion Syndrome, also known as monosomy 14q12, is related to rett syndrome, and has symptoms including microcephaly, 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, 26ICD10 via Orphanet
See all sources

14q12 Microdeletion Syndrome, Aliases & Descriptions:

Name: 14q12 Microdeletion Syndrome 48
Monosomy 14q12 48
 
Del(14)(q12) 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

ICD10 via Orphanet26 Q93.5

Related Diseases for 14q12 Microdeletion Syndrome

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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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Symptoms:

48 (show all 30)
  • microcephaly
  • 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
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • prominent metopic suture
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • 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

HPO human phenotypes related to 14q12 Microdeletion Syndrome:

(show all 25)
id Description Frequency HPO Source Accession
1 everted lower lip vermilion hallmark (90%) HP:0000232
2 microcephaly hallmark (90%) HP:0000252
3 epicanthus hallmark (90%) HP:0000286
4 stereotypic behavior hallmark (90%) HP:0000733
5 muscular hypotonia hallmark (90%) HP:0001252
6 neurological speech impairment hallmark (90%) HP:0002167
7 developmental regression hallmark (90%) HP:0002376
8 depressed nasal bridge hallmark (90%) HP:0005280
9 abnormality of the antihelix hallmark (90%) HP:0009738
10 tented upper lip vermilion hallmark (90%) HP:0010804
11 cognitive impairment hallmark (90%) HP:0100543
12 abnormality of the tongue typical (50%) HP:0000157
13 abnormality of the philtrum typical (50%) HP:0000288
14 mandibular prognathia typical (50%) HP:0000303
15 downslanted palpebral fissures typical (50%) HP:0000494
16 blepharophimosis typical (50%) HP:0000581
17 seizures typical (50%) HP:0001250
18 scoliosis typical (50%) HP:0002650
19 kyphosis typical (50%) HP:0002808
20 short nose typical (50%) HP:0003196
21 excessive salivation typical (50%) HP:0003781
22 prominent metopic ridge typical (50%) HP:0005487
23 aplasia/hypoplasia of the corpus callosum typical (50%) HP:0007370
24 abnormality of movement typical (50%) HP:0100022
25 palpebral edema typical (50%) HP:0100540

Drugs & Therapeutics for 14q12 Microdeletion Syndrome

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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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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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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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet