MCID: 14Q001
MIFTS: 16

14q12 Microdeletion Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for 14q12 Microdeletion Syndrome

MalaCards integrated aliases for 14q12 Microdeletion Syndrome:

Name: 14q12 Microdeletion Syndrome 58
Monosomy 14q12 58
Del(14)(q12) 58

Characteristics:

Orphanet epidemiological data:

58
14q12 microdeletion syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for 14q12 Microdeletion Syndrome

MalaCards based summary : 14q12 Microdeletion Syndrome, also known as monosomy 14q12, is related to rett syndrome and hypertelorism. An important gene associated with 14q12 Microdeletion Syndrome is FOXG1 (Forkhead Box G1). Related phenotypes are depressed nasal bridge and muscular hypotonia

Related Diseases for 14q12 Microdeletion Syndrome

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

# Related Disease Score Top Affiliating Genes
1 rett syndrome 10.2
2 hypertelorism 10.2
3 microcephaly 10.2
4 hypothyroidism 10.2

Symptoms & Phenotypes for 14q12 Microdeletion Syndrome

Human phenotypes related to 14q12 Microdeletion Syndrome:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
2 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
3 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
4 developmental regression 58 31 hallmark (90%) Very frequent (99-80%) HP:0002376
5 stereotypy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000733
6 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
7 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
8 everted lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000232
9 absent speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0001344
10 growth delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001510
11 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
12 protruding ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0000411
13 bulbous nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000414
14 tented upper lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0010804
15 abnormality of the antihelix 58 31 hallmark (90%) Very frequent (99-80%) HP:0009738
16 macroglossia 58 31 frequent (33%) Frequent (79-30%) HP:0000158
17 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
18 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
19 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
20 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
21 smooth philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000319
22 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
23 palpebral edema 58 31 frequent (33%) Frequent (79-30%) HP:0100540
24 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
25 blepharophimosis 58 31 frequent (33%) Frequent (79-30%) HP:0000581
26 agenesis of corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0001274
27 prominent metopic ridge 58 31 frequent (33%) Frequent (79-30%) HP:0005487
28 excessive salivation 58 31 frequent (33%) Frequent (79-30%) HP:0003781
29 seizure 31 frequent (33%) HP:0001250
30 seizures 58 Frequent (79-30%)

Drugs & Therapeutics for 14q12 Microdeletion Syndrome

Search Clinical Trials , NIH Clinical Center for 14q12 Microdeletion Syndrome

Genetic Tests for 14q12 Microdeletion Syndrome

Anatomical Context for 14q12 Microdeletion Syndrome

Publications for 14q12 Microdeletion Syndrome

Articles related to 14q12 Microdeletion Syndrome:

# Title Authors PMID Year
1
14q12 Microdeletion syndrome and congenital variant of Rett syndrome. 61
19303466 2009

Variations for 14q12 Microdeletion Syndrome

Expression for 14q12 Microdeletion Syndrome

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

Pathways for 14q12 Microdeletion Syndrome

GO Terms for 14q12 Microdeletion Syndrome

Sources for 14q12 Microdeletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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