MCID: 14Q001
MIFTS: 13

14q12 Microdeletion Syndrome malady

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for 14q12 Microdeletion Syndrome

About this section
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

About this section
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

About this section

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

About this section

Human phenotypes related to 14q12 Microdeletion Syndrome:

 64 54 (show all 35)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 everted lower lip vermilion64 54 hallmark (90%) Very frequent (99-80%) HP:0000232
2 microcephaly64 54 hallmark (90%) Very frequent (99-80%) HP:0000252
3 epicanthus64 54 hallmark (90%) Very frequent (99-80%) HP:0000286
4 stereotypy64 54 hallmark (90%) Very frequent (99-80%) HP:0000733
5 muscular hypotonia64 54 hallmark (90%) Very frequent (99-80%) HP:0001252
6 neurological speech impairment64 hallmark (90%) HP:0002167
7 developmental regression64 54 hallmark (90%) Very frequent (99-80%) HP:0002376
8 depressed nasal bridge64 54 hallmark (90%) Very frequent (99-80%) HP:0005280
9 abnormality of the antihelix64 54 hallmark (90%) Very frequent (99-80%) HP:0009738
10 tented upper lip vermilion64 54 hallmark (90%) Very frequent (99-80%) HP:0010804
11 cognitive impairment64 hallmark (90%) HP:0100543
12 abnormality of the tongue64 typical (50%) HP:0000157
13 abnormality of the philtrum64 typical (50%) HP:0000288
14 mandibular prognathia64 54 typical (50%) Frequent (79-30%) HP:0000303
15 downslanted palpebral fissures64 54 typical (50%) Frequent (79-30%) HP:0000494
16 blepharophimosis64 54 typical (50%) Frequent (79-30%) HP:0000581
17 seizures64 54 typical (50%) Frequent (79-30%) HP:0001250
18 scoliosis64 54 typical (50%) Frequent (79-30%) HP:0002650
19 kyphosis64 54 typical (50%) Frequent (79-30%) HP:0002808
20 short nose64 54 typical (50%) Frequent (79-30%) HP:0003196
21 excessive salivation64 54 typical (50%) Frequent (79-30%) HP:0003781
22 prominent metopic ridge64 54 typical (50%) Frequent (79-30%) HP:0005487
23 aplasia/hypoplasia of the corpus callosum64 typical (50%) HP:0007370
24 abnormality of movement64 typical (50%) HP:0100022
25 palpebral edema64 54 typical (50%) Frequent (79-30%) HP:0100540
26 macroglossia54 Frequent (79-30%)
27 smooth philtrum54 Frequent (79-30%)
28 protruding ear54 Very frequent (99-80%)
29 bulbous nose54 Very frequent (99-80%)
30 agenesis of corpus callosum54 Frequent (79-30%)
31 absent speech54 Very frequent (99-80%)
32 growth delay54 Very frequent (99-80%)
33 gastroesophageal reflux54 Frequent (79-30%)
34 intellectual disability, severe54 Very frequent (99-80%)
35 feeding difficulties54 Very frequent (99-80%)

Drugs & Therapeutics for 14q12 Microdeletion Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for 14q12 Microdeletion Syndrome

Genetic Tests for 14q12 Microdeletion Syndrome

About this section

Anatomical Context for 14q12 Microdeletion Syndrome

About this section

MalaCards organs/tissues related to 14q12 Microdeletion Syndrome:

36
Tongue

Publications for 14q12 Microdeletion Syndrome

About this section

Articles related to 14q12 Microdeletion Syndrome:

idTitleAuthorsYear
1
14q12 Microdeletion syndrome and congenital variant of Rett syndrome. (19303466)
2009

Variations for 14q12 Microdeletion Syndrome

About this section

Expression for genes affiliated with 14q12 Microdeletion Syndrome

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

Pathways for genes affiliated with 14q12 Microdeletion Syndrome

About this section

GO Terms for genes affiliated with 14q12 Microdeletion Syndrome

About this section

Sources for 14q12 Microdeletion Syndrome

About this section
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