MCID: 14Q001
MIFTS: 13

14q12 Microdeletion Syndrome malady

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for 14q12 Microdeletion Syndrome

Aliases & Descriptions for 14q12 Microdeletion Syndrome:

Name: 14q12 Microdeletion Syndrome 56
Monosomy 14q12 56
Del(14)(q12) 56

Characteristics:

Orphanet epidemiological data:

56
14q12 microdeletion syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 56 ORPHA261144
ICD10 via Orphanet 34 Q93.5

Summaries for 14q12 Microdeletion Syndrome

MalaCards based summary : 14q12 Microdeletion Syndrome, also known as monosomy 14q12, is related to rett syndrome, and has symptoms including macroglossia, everted lower lip vermilion and microcephaly. An important gene associated with 14q12 Microdeletion Syndrome is FOXG1 (Forkhead Box G1).

Related Diseases for 14q12 Microdeletion Syndrome

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

id Related Disease Score Top Affiliating Genes
1 rett syndrome 9.9

Symptoms & Phenotypes for 14q12 Microdeletion Syndrome

Human phenotypes related to 14q12 Microdeletion Syndrome:

56 32 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 56 32 Frequent (79-30%) HP:0000158
2 everted lower lip vermilion 56 32 Very frequent (99-80%) HP:0000232
3 microcephaly 56 32 Very frequent (99-80%) HP:0000252
4 epicanthus 56 32 Very frequent (99-80%) HP:0000286
5 mandibular prognathia 56 32 Frequent (79-30%) HP:0000303
6 smooth philtrum 56 32 Frequent (79-30%) HP:0000319
7 protruding ear 56 32 Very frequent (99-80%) HP:0000411
8 bulbous nose 56 32 Very frequent (99-80%) HP:0000414
9 downslanted palpebral fissures 56 32 Frequent (79-30%) HP:0000494
10 blepharophimosis 56 32 Frequent (79-30%) HP:0000581
11 stereotypy 56 32 Very frequent (99-80%) HP:0000733
12 seizures 56 32 Frequent (79-30%) HP:0001250
13 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
14 agenesis of corpus callosum 56 32 Frequent (79-30%) HP:0001274
15 absent speech 56 32 Very frequent (99-80%) HP:0001344
16 growth delay 56 32 Very frequent (99-80%) HP:0001510
17 gastroesophageal reflux 56 32 Frequent (79-30%) HP:0002020
18 developmental regression 56 32 Very frequent (99-80%) HP:0002376
19 scoliosis 56 32 Frequent (79-30%) HP:0002650
20 kyphosis 56 32 Frequent (79-30%) HP:0002808
21 short nose 56 32 Frequent (79-30%) HP:0003196
22 excessive salivation 56 32 Frequent (79-30%) HP:0003781
23 depressed nasal bridge 56 32 Very frequent (99-80%) HP:0005280
24 prominent metopic ridge 56 32 Frequent (79-30%) HP:0005487
25 abnormality of the antihelix 56 32 Very frequent (99-80%) HP:0009738
26 tented upper lip vermilion 56 32 Very frequent (99-80%) HP:0010804
27 intellectual disability, severe 56 32 Very frequent (99-80%) HP:0010864
28 feeding difficulties 56 32 Very frequent (99-80%) HP:0011968
29 palpebral edema 56 32 Frequent (79-30%) HP:0100540

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:

id Title Authors Year
1
14q12 Microdeletion syndrome and congenital variant of Rett syndrome. ( 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
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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