MCID: 14Q001
MIFTS: 14

14q12 Microdeletion Syndrome malady

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for 14q12 Microdeletion Syndrome

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Sources:
52Orphanet, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for 14q12 Microdeletion Syndrome:

Name: 14q12 Microdeletion Syndrome 52
Monosomy 14q12 52
 
Del(14)(q12) 52

Characteristics:

Orphanet epidemiological data:

52
14q12 microdeletion syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet52 ORPHA261144
ICD10 via Orphanet29 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 rett syndrome, 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
1rett syndrome10.0

Symptoms for 14q12 Microdeletion Syndrome

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Symptoms:

 52 (show all 29)
  • macroglossia
  • everted lower lip vermilion
  • microcephaly
  • epicanthus
  • mandibular prognathia
  • smooth philtrum
  • protruding ear
  • bulbous nose
  • downslanted palpebral fissures
  • blepharophimosis
  • stereotypic behavior
  • seizures
  • muscular hypotonia
  • agenesis of corpus callosum
  • absent speech
  • growth delay
  • gastroesophageal reflux
  • developmental regression
  • scoliosis
  • kyphosis
  • short nose
  • excessive salivation
  • depressed nasal bridge
  • prominent metopic ridge
  • abnormality of the antihelix
  • tented upper lip vermilion
  • intellectual disability, severe
  • feeding difficulties
  • palpebral edema

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 stereotypy 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:

34
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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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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet