MCID: CHR634
MIFTS: 11

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 58 30 6
Chromosome 16p12.1 Deletion Syndrome, 520kb 58 12 13

Classifications:



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

OMIM : 58 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 11.6

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

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

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 33 hallmark (90%) HP:0001263
2 delayed speech and language development 33 hallmark (90%) HP:0000750
3 abnormal facial shape 33 hallmark (90%) HP:0001999
4 abnormality of cardiovascular system morphology 33 hallmark (90%) HP:0030680
5 seizures 33 very rare (1%) HP:0001250
6 behavioral abnormality 33 very rare (1%) HP:0000708
7 generalized hypotonia 33 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 30 FRA16E

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

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

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 Assembly Location
1 EEF2K; MOSMO; PDZD9; SDR42E2; UQCRC2; VWA3A GRCh37/hg19 16p12.2(chr16: 21884192-22288219) copy number loss Pathogenic GRCh37 Chromosome 16, 21884192: 22288219
2 CDR2; EEF2K; MOSMO; NPIPB5; PDZD9; POLR3E; SDR42E2; UQCRC2; VWA3A GRCh37/hg19 16p12.2(chr16: 21943463-22702769) copy number loss Likely pathogenic GRCh37 Chromosome 16, 21943463: 22702769
3 CDR2; EEF2K; MOSMO; PDZD9; POLR3E; SDR42E2; UQCRC2; VWA3A GRCh37/hg19 16p12.2(chr16: 21976691-22386881) copy number loss Pathogenic GRCh37 Chromosome 16, 21976691: 22386881
4 CDR2; EEF2K; MOSMO; PDZD9; POLR3E; SDR42E2; UQCRC2; VWA3A GRCh37/hg19 16p12.2(chr16: 21973828-22361172) copy number loss Likely pathogenic GRCh37 Chromosome 16, 21973828: 22361172
5 CDR2; EEF2K; MOSMO; PDZD9; POLR3E; SDR42E2; UQCRC2; VWA3A GRCh37/hg19 16p12.2(chr16: 21964083-22386845) copy number loss Pathogenic GRCh37 Chromosome 16, 21964083: 22386845
6 CDR2; EEF2K; MOSMO; PDZD9; POLR3E; SDR42E2; UQCRC2; VWA3A GRCh37/hg19 16p12.2(chr16: 21973828-22361172) copy number loss Likely pathogenic GRCh37 Chromosome 16, 21973828: 22361172

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

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