MCID: CHR634
MIFTS: 17

Chromosome 16p12.1 Deletion Syndrome, 520-Kb

Categories: Genetic diseases

Aliases & Classifications for Chromosome 16p12.1 Deletion Syndrome, 520-Kb

MalaCards integrated aliases for Chromosome 16p12.1 Deletion Syndrome, 520-Kb:

Name: Chromosome 16p12.1 Deletion Syndrome, 520-Kb 57 29 6
Chromosome 16p12.1 Deletion Syndrome, 520kb 57 12 13

Classifications:



External Ids:

Disease Ontology 12 DOID:0060399
OMIM 57 136570
MedGen 42 C3149276

Summaries for Chromosome 16p12.1 Deletion Syndrome, 520-Kb

OMIM : 57 There are several phenotypes associated with variation in pericentric region of chromosome 16: see the 16p12.2-p11.2 deletion syndrome (613604); see 611913 for a deletion or duplication at 16p11.2 associated with autism (AUTS14); and see 613444 for a 220-kb deletion at 16p11.2 associated with isolated severe early-onset obesity and obesity with developmental delay. (136570)

MalaCards based summary : Chromosome 16p12.1 Deletion Syndrome, 520-Kb, also known as chromosome 16p12.1 deletion syndrome, 520kb, is related to 16p12.2 microdeletion. An important gene associated with Chromosome 16p12.1 Deletion Syndrome, 520-Kb is FRA16E (Fragile Site, Distamycin A Type, Rare, Fra(16)(P12.1)). Related phenotypes are global developmental delay and delayed speech and language development

Related Diseases for Chromosome 16p12.1 Deletion Syndrome, 520-Kb

Diseases related to Chromosome 16p12.1 Deletion Syndrome, 520-Kb via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 16p12.2 microdeletion 11.7

Symptoms & Phenotypes for Chromosome 16p12.1 Deletion Syndrome, 520-Kb

Human phenotypes related to Chromosome 16p12.1 Deletion Syndrome, 520-Kb:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 hallmark (90%) HP:0001263
2 delayed speech and language development 32 hallmark (90%) HP:0000750
3 abnormal facial shape 32 hallmark (90%) HP:0001999
4 abnormality of cardiovascular system morphology 32 hallmark (90%) HP:0030680
5 seizures 32 very rare (1%) HP:0001250
6 behavioral abnormality 32 very rare (1%) HP:0000708
7 generalized hypotonia 32 very rare (1%) HP:0001290

Clinical features from OMIM:

136570

Drugs & Therapeutics for Chromosome 16p12.1 Deletion Syndrome, 520-Kb

Search Clinical Trials , NIH Clinical Center for Chromosome 16p12.1 Deletion Syndrome, 520-Kb

Genetic Tests for Chromosome 16p12.1 Deletion Syndrome, 520-Kb

Genetic tests related to Chromosome 16p12.1 Deletion Syndrome, 520-Kb:

# Genetic test Affiliating Genes
1 Chromosome 16p12.1 Deletion Syndrome, 520-Kb 29 FRA16E

Anatomical Context for Chromosome 16p12.1 Deletion Syndrome, 520-Kb

Publications for Chromosome 16p12.1 Deletion Syndrome, 520-Kb

Articles related to Chromosome 16p12.1 Deletion Syndrome, 520-Kb:

# Title Authors PMID Year
1
16p12.2 Recurrent Deletion 71
25719193 2015
2
Phenotypic heterogeneity of genomic disorders and rare copy-number variants. 8
22970919 2012
3
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk. 8
20729854 2010
4
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. 8
20154674 2010

Variations for Chromosome 16p12.1 Deletion Syndrome, 520-Kb

ClinVar genetic disease variations for Chromosome 16p12.1 Deletion Syndrome, 520-Kb:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 EEF2K ; MOSMO ; PDZD9 ; SDR42E2 ; UQCRC2 ; VWA3A GRCh37/hg19 16p12.2(chr16: 21884192-22288219) copy number loss Pathogenic 16:21884192-22288219 :0-0
2 CDR2 ; EEF2K ; MOSMO ; PDZD9 ; POLR3E ; SDR42E2 ; UQCRC2 ; VWA3A GRCh37/hg19 16p12.2(chr16: 21976691-22386881) copy number loss Pathogenic 16:21976691-22386881 :0-0
3 CDR2 ; EEF2K ; MOSMO ; PDZD9 ; POLR3E ; SDR42E2 ; UQCRC2 ; VWA3A GRCh37/hg19 16p12.2(chr16: 21964083-22386845) copy number loss Pathogenic 16:21964083-22386845 :0-0
4 CDR2 ; EEF2K ; MOSMO ; PDZD9 ; POLR3E ; SDR42E2 ; UQCRC2 ; VWA3A GRCh37/hg19 16p12.2(chr16: 21973828-22361172) copy number loss Likely pathogenic 16:21973828-22361172 :0-0
5 CDR2 ; EEF2K ; MOSMO ; PDZD9 ; POLR3E ; SDR42E2 ; UQCRC2 ; VWA3A GRCh37/hg19 16p12.2(chr16: 21973828-22361172) copy number loss Likely pathogenic 16:21973828-22361172 :0-0
6 CDR2 ; EEF2K ; MOSMO ; NPIPB5 ; PDZD9 ; POLR3E ; SDR42E2 ; UQCRC2 ; VWA3A GRCh37/hg19 16p12.2(chr16: 21943463-22702769) copy number loss Likely pathogenic 16:21943463-22702769 :0-0

Expression for Chromosome 16p12.1 Deletion Syndrome, 520-Kb

Search GEO for disease gene expression data for Chromosome 16p12.1 Deletion Syndrome, 520-Kb.

Pathways for Chromosome 16p12.1 Deletion Syndrome, 520-Kb

GO Terms for Chromosome 16p12.1 Deletion Syndrome, 520-Kb

Sources for Chromosome 16p12.1 Deletion Syndrome, 520-Kb

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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
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44 MeSH
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49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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