MCID: CHR621
MIFTS: 26

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 56
Chromosome 16p11.2 Deletion Syndrome, 593kb 56 13
Proximal 16p11.2 Microdeletion Syndrome 58
Autism Susceptibility 14a 56
Proximal Monosomy 16p11.2 58
Proximal Del(16)(p11.2) 58

Characteristics:

Orphanet epidemiological data:

58
proximal 16p11.2 microdeletion syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood; Age of death: adult;

HPO:

31
chromosome 16p11.2 deletion syndrome, 593-kb:
Inheritance contiguous gene syndrome


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


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). Affiliated tissues include breast and testes, and related phenotypes are intellectual disability and global developmental delay

More information from OMIM: 611913 PS209850

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:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 language impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002463
4 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
5 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
6 seizures 58 31 very rare (1%) Frequent (79-30%) HP:0001250
7 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
8 autism 58 31 frequent (33%) Frequent (79-30%) HP:0000717
9 broad forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000337
10 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
11 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
12 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
13 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
14 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
15 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
16 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
17 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
18 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
19 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
20 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
21 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
22 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
23 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
24 psychosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000709
25 anophthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000528
26 hemivertebrae 58 31 occasional (7.5%) Occasional (29-5%) HP:0002937
27 hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001161
28 congenital diaphragmatic hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000776
29 pyloric stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002021
30 optic nerve coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000588
31 aortic regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001659
32 syringomyelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003396
33 feeding difficulties in infancy 31 very rare (1%) HP:0008872
34 motor delay 31 very rare (1%) HP:0001270
35 delayed speech and language development 31 HP:0000750
36 midface retrusion 31 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

MalaCards organs/tissues related to Chromosome 16p11.2 Deletion Syndrome, 593-Kb:

40
Breast, Testes

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

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

(show all 32)
# Title Authors PMID Year
1
PRRT2-Associated Paroxysmal Movement Disorders 6
29334453 2018
2
Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. 6
25190698 2014
3
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 6
23519317 2013
4
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. 56
22596160 2012
5
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. 56
21792059 2011
6
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 56
21844811 2011
7
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. 56
21658581 2011
8
Rare de novo and transmitted copy-number variation in autistic spectrum disorders. 56
21658582 2011
9
Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. 56
21525063 2011
10
Narrowing the critical deletion region for autism spectrum disorders on 16p11.2. 56
21302354 2011
11
Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia. 56
20959866 2011
12
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. 6
20466091 2010
13
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. 56
19914906 2010
14
Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder. 56
19755429 2010
15
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. 56
20130649 2010
16
Large, rare chromosomal deletions associated with severe early-onset obesity. 56
19966786 2010
17
Microduplications of 16p11.2 are associated with schizophrenia. 56
19855392 2009
18
A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae. 56
19770079 2009
19
16p11.2 Recurrent Microdeletion 6
20301775 2009
20
Further characterization of the new microdeletion syndrome of 16p11.2-p12.2. 56
19449418 2009
21
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. 56
19404257 2009
22
Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion. 56
19097825 2009
23
Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. 56
19306953 2009
24
Population analysis of large copy number variants and hotspots of human genetic disease. 56
19166990 2009
25
The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency. 56
18836449 2008
26
Recurrent 16p11.2 microdeletions in autism. 56
18156158 2008
27
A hot spot of genetic instability in autism. 56
18184953 2008
28
Association between microdeletion and microduplication at 16p11.2 and autism. 56
18184952 2008
29
Structural variation of chromosomes in autism spectrum disorder. 56
18252227 2008
30
Strong association of de novo copy number mutations with autism. 56
17363630 2007
31
Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT. 56
15830322 2005
32
Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations. 56
12011165 2002

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

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 32 genes: PRRT2 16p11.2 recurrent region (BP4-BP5)deletion Pathogenic 41405 16:29649997-30199852 16:29638676-30188531
2 subset of 30 genes: PRRT2 GRCh37/hg19 16p11.2(chr16:29042050-30199025)copy number loss Pathogenic 625602 16:29042050-30199025
3 subset of 26 genes: PRRT2 GRCh37/hg19 16p11.2(chr16:29673203-30133233)copy number loss Pathogenic 625605 16:29673203-30133233
4 subset of 27 genes: PRRT2 GRCh37/hg19 16p11.2(chr16:29678569-30199402)copy number loss Pathogenic 625606 16:29678569-30199402
5 subset of 27 genes: PRRT2 GRCh37/hg19 16p11.2(chr16:29595483-30199713)copy number loss Pathogenic 625650 16:29595483-30199713
6 subset of 27 genes: PRRT2 GRCh37/hg19 16p11.2(chr16:29673203-30199713)copy number loss Pathogenic 625688 16:29673203-30199713
7 subset of 27 genes: PRRT2 GRCh37/hg19 16p11.2(chr16:29674336-30199351)x1copy number loss Pathogenic 666439 16:29674336-30199351
8 subset of 27 genes: PRRT2 GRCh37/hg19 16p11.2(chr16:29674336-30198123)x1copy number loss Pathogenic 666440 16:29674336-30198123

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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