MCID: 16P009
MIFTS: 11

16p12.2 Microdeletion

Aliases & Classifications for 16p12.2 Microdeletion

MalaCards integrated aliases for 16p12.2 Microdeletion:

Name: 16p12.2 Microdeletion 43 6
Chromosome 16p12.1 Deletion Syndrome, 520-Kb 43
16p12.1 Microdeletion 43

Summaries for 16p12.2 Microdeletion

MedlinePlus Genetics : 43 16p12.2 microdeletion is a chromosomal change in which a small amount of genetic material on chromosome 16 is deleted. The deletion occurs on the short (p) arm of the chromosome at a location designated p12.2. Common characteristics that have been described in people with a 16p12.2 microdeletion include developmental delay, delayed speech, intellectual disability that ranges from mild to profound, weak muscle tone (hypotonia), slow growth resulting in short stature, an usually small head (microcephaly), malformations of the heart, recurrent seizures (epilepsy), and psychiatric and behavioral problems.Less common features that can occur in people with a 16p12.2 microdeletion can include hearing loss, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), dental abnormalities, malformed kidneys, and genital abnormalities in males. However, there is no particular pattern of physical abnormalities that characterizes individuals with a 16p12.2 microdeletion. Signs and symptoms related to the chromosomal change vary even among affected members of the same family, and some people with the deletion have no identified physical or behavioral abnormalities.

MalaCards based summary : 16p12.2 Microdeletion, also known as chromosome 16p12.1 deletion syndrome, 520-kb, is related to chromosome 16p12.1 deletion syndrome, 520-kb and 16p12.2 recurrent deletion. An important gene associated with 16p12.2 Microdeletion is PDZD9 (PDZ Domain Containing 9).

Related Diseases for 16p12.2 Microdeletion

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

# Related Disease Score Top Affiliating Genes
1 chromosome 16p12.1 deletion syndrome, 520-kb 11.6
2 16p12.2 recurrent deletion 11.2
3 tetralogy of fallot 10.0
4 branchiootic syndrome 1 10.0
5 deafness, autosomal recessive 22 10.0
6 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
7 hydrocephalus 10.0
8 dyslexia 10.0
9 spinal stenosis 10.0
10 hypoplastic left heart syndrome 10.0

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



Diseases related to 16p12.2 Microdeletion

Symptoms & Phenotypes for 16p12.2 Microdeletion

Drugs & Therapeutics for 16p12.2 Microdeletion

Search Clinical Trials , NIH Clinical Center for 16p12.2 Microdeletion

Genetic Tests for 16p12.2 Microdeletion

Anatomical Context for 16p12.2 Microdeletion

Publications for 16p12.2 Microdeletion

Articles related to 16p12.2 Microdeletion:

# Title Authors PMID Year
1
An unusual case of tetralogy of Fallot with an absent pulmonary valve associated with a retro-aortic innominate vein in a patient with a 16p12.2 microdeletion. 61
33455596 2021
2
'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22. 61
31204719 2019
3
Clinical utility gene card for: 16p12.2 microdeletion. 61
27848943 2017

Variations for 16p12.2 Microdeletion

ClinVar genetic disease variations for 16p12.2 Microdeletion:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PDZD9 GRCh37/hg19 16p12.2(chr16:21884192-22288219) copy number loss Pathogenic 625576 16:21884192-22288219
2 PDZD9 GRCh37/hg19 16p12.2(chr16:21976691-22386881) copy number loss Pathogenic 625599 16:21976691-22386881
3 PDZD9 GRCh37/hg19 16p12.2(chr16:21964083-22386845) copy number loss Pathogenic 625686 16:21964083-22386845
4 PDZD9 GRCh37/hg19 16p12.2(chr16:21973828-22361172) copy number loss Likely pathogenic 625754 16:21973828-22361172
5 PDZD9 GRCh37/hg19 16p12.2(chr16:21973828-22361172) copy number loss Likely pathogenic 625677 16:21973828-22361172
6 PDZD9 GRCh37/hg19 16p12.2(chr16:21943463-22702769) copy number loss Likely pathogenic 625577 16:21943463-22702769

Expression for 16p12.2 Microdeletion

Search GEO for disease gene expression data for 16p12.2 Microdeletion.

Pathways for 16p12.2 Microdeletion

GO Terms for 16p12.2 Microdeletion

Sources for 16p12.2 Microdeletion

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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