MCID: CHR621
MIFTS: 18

Chromosome 16p11.2 Deletion Syndrome, 593-Kb

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Chromosome 16p11.2 Deletion Syndrome, 593-Kb

MalaCards integrated aliases for Chromosome 16p11.2 Deletion Syndrome, 593-Kb:

Name: Chromosome 16p11.2 Deletion Syndrome, 593-Kb 58
Chromosome 16p11.2 Deletion Syndrome, 593kb 58 13
Proximal 16p11.2 Microdeletion Syndrome 60
Autism Susceptibility 14a 58
Proximal Monosomy 16p11.2 60
Proximal Del(16)(p11.2) 60

Characteristics:

Orphanet epidemiological data:

60
proximal 16p11.2 microdeletion syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood; Age of death: adult;

HPO:

33
chromosome 16p11.2 deletion syndrome, 593-kb:
Inheritance contiguous gene syndrome


Classifications:



Summaries for Chromosome 16p11.2 Deletion Syndrome, 593-Kb

MalaCards based summary : Chromosome 16p11.2 Deletion Syndrome, 593-Kb, is also known as chromosome 16p11.2 deletion syndrome, 593kb. An important gene associated with Chromosome 16p11.2 Deletion Syndrome, 593-Kb is DEL16P11.2 (Autism, Susceptibility To, 14). Related phenotypes are intellectual disability and global developmental delay

Description from OMIM: 611913

Related Diseases for Chromosome 16p11.2 Deletion Syndrome, 593-Kb

Symptoms & Phenotypes for Chromosome 16p11.2 Deletion Syndrome, 593-Kb

Human phenotypes related to Chromosome 16p11.2 Deletion Syndrome, 593-Kb:

60 33 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
3 language impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0002463
4 macrocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000256
5 malar flattening 60 33 frequent (33%) Frequent (79-30%) HP:0000272
6 seizures 60 33 very rare (1%) Frequent (79-30%) HP:0001250
7 eeg abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0002353
8 autism 60 33 frequent (33%) Frequent (79-30%) HP:0000717
9 broad forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000337
10 hypertelorism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000316
11 obesity 60 33 occasional (7.5%) Occasional (29-5%) HP:0001513
12 muscular hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001252
13 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
14 gastroesophageal reflux 60 33 occasional (7.5%) Occasional (29-5%) HP:0002020
15 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
16 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
17 feeding difficulties 60 33 occasional (7.5%) Occasional (29-5%) HP:0011968
18 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
19 attention deficit hyperactivity disorder 60 33 occasional (7.5%) Occasional (29-5%) HP:0007018
20 myopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000545
21 atrial septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001631
22 ventriculomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002119
23 microphthalmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000568
24 psychosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000709
25 hand polydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001161
26 pyloric stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002021
27 hemivertebrae 60 33 occasional (7.5%) Occasional (29-5%) HP:0002937
28 optic nerve coloboma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000588
29 anophthalmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000528
30 congenital diaphragmatic hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000776
31 aortic regurgitation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001659
32 syringomyelia 60 33 occasional (7.5%) Occasional (29-5%) HP:0003396
33 feeding difficulties in infancy 33 very rare (1%) HP:0008872
34 motor delay 33 very rare (1%) HP:0001270
35 delayed speech and language development 33 HP:0000750
36 midface retrusion 33 HP:0011800

Clinical features from OMIM:

611913

Drugs & Therapeutics for Chromosome 16p11.2 Deletion Syndrome, 593-Kb

Search Clinical Trials , NIH Clinical Center for Chromosome 16p11.2 Deletion Syndrome, 593-Kb

Genetic Tests for Chromosome 16p11.2 Deletion Syndrome, 593-Kb

Anatomical Context for Chromosome 16p11.2 Deletion Syndrome, 593-Kb

Publications for Chromosome 16p11.2 Deletion Syndrome, 593-Kb

Variations for Chromosome 16p11.2 Deletion Syndrome, 593-Kb

ClinVar genetic disease variations for Chromosome 16p11.2 Deletion Syndrome, 593-Kb:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 subset of 29 genes:PRRT2 16p11.2 recurrent region (BP4-BP5) deletion Pathogenic GRCh37 Chromosome 16, 29649997: 30199852
2 subset of 29 genes:PRRT2 16p11.2 recurrent region (BP4-BP5) deletion Pathogenic GRCh38 Chromosome 16, 29638676: 30188531
3 subset of 30 genes:PRRT2 GRCh37/hg19 16p11.2(chr16: 29042050-30199025) copy number loss Pathogenic GRCh37 Chromosome 16, 29042050: 30199025
4 subset of 26 genes:PRRT2 GRCh37/hg19 16p11.2(chr16: 29673203-30133233) copy number loss Pathogenic GRCh37 Chromosome 16, 29673203: 30133233
5 subset of 27 genes:PRRT2 GRCh37/hg19 16p11.2(chr16: 29678569-30199402) copy number loss Pathogenic GRCh37 Chromosome 16, 29678569: 30199402
6 subset of 27 genes:PRRT2 GRCh37/hg19 16p11.2(chr16: 29595483-30199713) copy number loss Pathogenic GRCh37 Chromosome 16, 29595483: 30199713
7 subset of 27 genes:PRRT2 GRCh37/hg19 16p11.2(chr16: 29673203-30199713) copy number loss Pathogenic GRCh37 Chromosome 16, 29673203: 30199713

Expression for Chromosome 16p11.2 Deletion Syndrome, 593-Kb

Search GEO for disease gene expression data for Chromosome 16p11.2 Deletion Syndrome, 593-Kb.

Pathways for Chromosome 16p11.2 Deletion Syndrome, 593-Kb

GO Terms for Chromosome 16p11.2 Deletion Syndrome, 593-Kb

Sources for Chromosome 16p11.2 Deletion Syndrome, 593-Kb

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