MCID: 14Q001
MIFTS: 13

14q12 Microdeletion Syndrome malady

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for 14q12 Microdeletion Syndrome

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Sources:
30ICD10 via Orphanet, 53Orphanet
See all MalaCards sources

Aliases & Descriptions for 14q12 Microdeletion Syndrome:

Name: 14q12 Microdeletion Syndrome 53
Monosomy 14q12 53
 
Del(14)(q12) 53

Characteristics:

Orphanet epidemiological data:

53
14q12 microdeletion syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet53 ORPHA261144
ICD10 via Orphanet30 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 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

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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 for 14q12 Microdeletion Syndrome

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Human phenotypes related to 14q12 Microdeletion Syndrome:

 63 53 (show all 35)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 everted lower lip vermilion63 53 hallmark (90%) Very frequent (99-80%) HP:0000232
2 microcephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000252
3 epicanthus63 53 hallmark (90%) Very frequent (99-80%) HP:0000286
4 stereotypy63 53 hallmark (90%) Very frequent (99-80%) HP:0000733
5 muscular hypotonia63 53 hallmark (90%) Very frequent (99-80%) HP:0001252
6 neurological speech impairment63 hallmark (90%) HP:0002167
7 developmental regression63 53 hallmark (90%) Very frequent (99-80%) HP:0002376
8 depressed nasal bridge63 53 hallmark (90%) Very frequent (99-80%) HP:0005280
9 abnormality of the antihelix63 53 hallmark (90%) Very frequent (99-80%) HP:0009738
10 tented upper lip vermilion63 53 hallmark (90%) Very frequent (99-80%) HP:0010804
11 cognitive impairment63 hallmark (90%) HP:0100543
12 abnormality of the tongue63 typical (50%) HP:0000157
13 abnormality of the philtrum63 typical (50%) HP:0000288
14 mandibular prognathia63 53 typical (50%) Frequent (79-30%) HP:0000303
15 downslanted palpebral fissures63 53 typical (50%) Frequent (79-30%) HP:0000494
16 blepharophimosis63 53 typical (50%) Frequent (79-30%) HP:0000581
17 seizures63 53 typical (50%) Frequent (79-30%) HP:0001250
18 scoliosis63 53 typical (50%) Frequent (79-30%) HP:0002650
19 kyphosis63 53 typical (50%) Frequent (79-30%) HP:0002808
20 short nose63 53 typical (50%) Frequent (79-30%) HP:0003196
21 excessive salivation63 53 typical (50%) Frequent (79-30%) HP:0003781
22 prominent metopic ridge63 53 typical (50%) Frequent (79-30%) HP:0005487
23 aplasia/hypoplasia of the corpus callosum63 typical (50%) HP:0007370
24 abnormality of movement63 typical (50%) HP:0100022
25 palpebral edema63 53 typical (50%) Frequent (79-30%) HP:0100540
26 macroglossia53 Frequent (79-30%)
27 smooth philtrum53 Frequent (79-30%)
28 protruding ear53 Very frequent (99-80%)
29 bulbous nose53 Very frequent (99-80%)
30 agenesis of corpus callosum53 Frequent (79-30%)
31 absent speech53 Very frequent (99-80%)
32 growth delay53 Very frequent (99-80%)
33 gastroesophageal reflux53 Frequent (79-30%)
34 intellectual disability, severe53 Very frequent (99-80%)
35 feeding difficulties53 Very frequent (99-80%)

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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MalaCards organs/tissues related to 14q12 Microdeletion Syndrome:

35
Tongue

Animal Models for 14q12 Microdeletion Syndrome or affiliated genes

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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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet