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 developmental regression and depressed nasal bridge

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 10.1
2 hypertelorism 10.0
3 microcephaly 10.0

Symptoms & Phenotypes for 14q12 Microdeletion Syndrome

Human phenotypes related to 14q12 Microdeletion Syndrome:

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

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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