MCID: 16P013
MIFTS: 9

16p12.2 Recurrent Deletion

Aliases & Classifications for 16p12.2 Recurrent Deletion

MalaCards integrated aliases for 16p12.2 Recurrent Deletion:

Name: 16p12.2 Recurrent Deletion 24
16p12.1 Microdeletion 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance for 16p12.2 recurrent deletions is incomplete....

Summaries for 16p12.2 Recurrent Deletion

MalaCards based summary : 16p12.2 Recurrent Deletion, also known as 16p12.1 microdeletion, is related to 16p12.2 microdeletion and aortic valve disease 1. An important gene associated with 16p12.2 Recurrent Deletion is FRA16E (Fragile Site, Distamycin A Type, Rare, Fra(16)(P12.1)).

GeneReviews: NBK274565

Related Diseases for 16p12.2 Recurrent Deletion

Diseases related to 16p12.2 Recurrent Deletion via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 16p12.2 microdeletion 11.4
2 aortic valve disease 1 10.2
3 hydrocephalus, congenital, 1 10.2
4 hydrocephalus 10.2
5 spinal stenosis 10.2
6 hypoplastic left heart syndrome 10.2
7 aortic coarctation 10.2
8 congenital hydrocephalus 10.2
9 cleft palate, isolated 10.1
10 chromosome 16p12.1 deletion syndrome, 520-kb 10.1
11 alacrima, achalasia, and mental retardation syndrome 10.1
12 cleft lip 10.1
13 orofacial clefting syndrome 10.1

Graphical network of the top 20 diseases related to 16p12.2 Recurrent Deletion:



Diseases related to 16p12.2 Recurrent Deletion

Symptoms & Phenotypes for 16p12.2 Recurrent Deletion

Drugs & Therapeutics for 16p12.2 Recurrent Deletion

Search Clinical Trials , NIH Clinical Center for 16p12.2 Recurrent Deletion

Genetic Tests for 16p12.2 Recurrent Deletion

Anatomical Context for 16p12.2 Recurrent Deletion

Publications for 16p12.2 Recurrent Deletion

Articles related to 16p12.2 Recurrent Deletion:

(show all 23)
# Title Authors PMID Year
1
Cervicomedullary spinal stenosis and ventriculomegaly in a child with developmental delay due to chromosome 16p12.1 microdeletion syndrome. 38 4
24813870 2015
2
The prevalence of 16p12.1 microdeletion in patients with left-sided cardiac lesions. 38 4
23682798 2014
3
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. 38 4
20154674 2010
4
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants. 4
30190612 2019
5
CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1. 4
24163246 2014
6
The penetrance of copy number variations for schizophrenia and developmental delay. 4
23992924 2014
7
A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders. 4
24581740 2014
8
CNVs conferring risk of autism or schizophrenia affect cognition in controls. 4
24352232 2014
9
A clinical study of patients with pericentromeric deletion and duplication within 16p12.2-p11.2. 4
24259393 2014
10
Estimates of penetrance for recurrent pathogenic copy-number variations. 4
23258348 2013
11
Phenotypic heterogeneity of genomic disorders and rare copy-number variants. 4
22970919 2012
12
A copy number variation morbidity map of developmental delay. 4
21841781 2011
13
5q11.2 deletion in a patient with tracheal agenesis. 4
20551993 2010
14
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk. 4
20729854 2010
15
Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization. 4
19676056 2009
16
Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice. 4
19116176 2009
17
Further characterization of the new microdeletion syndrome of 16p11.2-p12.2. 4
19449418 2009
18
Abnormal maternal behavior, altered sociability, and impaired serotonin metabolism in Rai1-transgenic mice. 4
19319603 2009
19
How much is too much? Phenotypic consequences of Rai1 overexpression in mice. 4
18285828 2008
20
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. 4
17704777 2007
21
Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. 4
16845274 2006
22
RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. 4
15788730 2005
23
16p12.2 Recurrent Deletion 38
25719193 2015

Variations for 16p12.2 Recurrent Deletion

Expression for 16p12.2 Recurrent Deletion

Search GEO for disease gene expression data for 16p12.2 Recurrent Deletion.

Pathways for 16p12.2 Recurrent Deletion

GO Terms for 16p12.2 Recurrent Deletion

Sources for 16p12.2 Recurrent Deletion

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