MCID: 14Q001
MIFTS: 14

14q12 Microdeletion Syndrome malady

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for 14q12 Microdeletion Syndrome

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Sources:
51Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for 14q12 Microdeletion Syndrome:

Name: 14q12 Microdeletion Syndrome 51
Monosomy 14q12 51
 
Del(14)(q12) 51

Characteristics:

Orphanet epidemiological data:

51
14q12 microdeletion syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet51 261144
ICD10 via Orphanet28 Q93.5

Summaries for 14q12 Microdeletion Syndrome

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MalaCards based summary: 14q12 Microdeletion Syndrome, also known as monosomy 14q12, is related to neuronitis, and has symptoms including everted lower lip vermilion, microcephaly and epicanthus. An important gene associated with 14q12 Microdeletion Syndrome is FOXG1 (Forkhead Box G1). Affiliated tissues include tongue.

Related Diseases for 14q12 Microdeletion Syndrome

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Diseases related to 14q12 Microdeletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1neuronitis10.4

Symptoms for 14q12 Microdeletion Syndrome

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Symptoms:

 51 (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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Interventional clinical trials:

Search ClinicalTrials, 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:

33
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
Expression of CYP3A4, CYP2B6, and CYP2C9 is regulated by the vitamin D receptor pathway in primary human hepatocytes. (11991950)
2002

Variations for 14q12 Microdeletion Syndrome

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Expression for genes affiliated with 14q12 Microdeletion Syndrome

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

Pathways for genes affiliated with 14q12 Microdeletion Syndrome

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GO Terms for genes affiliated with 14q12 Microdeletion Syndrome

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Sources for 14q12 Microdeletion Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet