MCID: 14Q001
MIFTS: 13

14q12 Microdeletion Syndrome malady

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for 14q12 Microdeletion Syndrome

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Sources:
31ICD10 via Orphanet, 54Orphanet
See all MalaCards sources

Aliases & Descriptions for 14q12 Microdeletion Syndrome:

Name: 14q12 Microdeletion Syndrome 54
Monosomy 14q12 54
 
Del(14)(q12) 54

Characteristics:

Orphanet epidemiological data:

54
14q12 microdeletion syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet54 ORPHA261144
ICD10 via Orphanet31 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 Array, Array and Array. An important gene associated with 14q12 Microdeletion Syndrome is FOXG1 (Forkhead Box G1).

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 syndrome9.9

Symptoms & Phenotypes for 14q12 Microdeletion Syndrome

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Human phenotypes related to 14q12 Microdeletion Syndrome:

 54 64 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia64 54 Frequent (79-30%) HP:0000158
2 everted lower lip vermilion64 54 Very frequent (99-80%) HP:0000232
3 microcephaly64 54 Very frequent (99-80%) HP:0000252
4 epicanthus64 54 Very frequent (99-80%) HP:0000286
5 mandibular prognathia64 54 Frequent (79-30%) HP:0000303
6 smooth philtrum64 54 Frequent (79-30%) HP:0000319
7 protruding ear64 54 Very frequent (99-80%) HP:0000411
8 bulbous nose64 54 Very frequent (99-80%) HP:0000414
9 downslanted palpebral fissures64 54 Frequent (79-30%) HP:0000494
10 blepharophimosis64 54 Frequent (79-30%) HP:0000581
11 stereotypy64 54 Very frequent (99-80%) HP:0000733
12 seizures64 54 Frequent (79-30%) HP:0001250
13 muscular hypotonia64 54 Very frequent (99-80%) HP:0001252
14 agenesis of corpus callosum64 54 Frequent (79-30%) HP:0001274
15 absent speech64 54 Very frequent (99-80%) HP:0001344
16 growth delay64 54 Very frequent (99-80%) HP:0001510
17 gastroesophageal reflux64 54 Frequent (79-30%) HP:0002020
18 developmental regression64 54 Very frequent (99-80%) HP:0002376
19 scoliosis64 54 Frequent (79-30%) HP:0002650
20 kyphosis64 54 Frequent (79-30%) HP:0002808
21 short nose64 54 Frequent (79-30%) HP:0003196
22 excessive salivation64 54 Frequent (79-30%) HP:0003781
23 depressed nasal bridge64 54 Very frequent (99-80%) HP:0005280
24 prominent metopic ridge64 54 Frequent (79-30%) HP:0005487
25 abnormality of the antihelix64 54 Very frequent (99-80%) HP:0009738
26 tented upper lip vermilion64 54 Very frequent (99-80%) HP:0010804
27 intellectual disability, severe64 54 Very frequent (99-80%) HP:0010864
28 feeding difficulties64 54 Very frequent (99-80%) HP:0011968
29 palpebral edema64 54 Frequent (79-30%) 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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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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet