MCID: CHR498
MIFTS: 26

Chromosome 16p11.2 Duplication Syndrome

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Chromosome 16p11.2 Duplication Syndrome

MalaCards integrated aliases for Chromosome 16p11.2 Duplication Syndrome:

Name: Chromosome 16p11.2 Duplication Syndrome 57 12 29 13 6 70
Proximal 16p11.2 Microduplication Syndrome 12 58
Proximal Trisomy 16p11.2 12 58
Proximal Dup(16)(p11.2) 12 58
Autism, Susceptibility to, 14b 57
Autism 14b 57

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Chromosome 16p11.2 Duplication Syndrome

Disease Ontology : 12 A chromosomal duplication syndrome that has material basis in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language.

MalaCards based summary : Chromosome 16p11.2 Duplication Syndrome, also known as proximal 16p11.2 microduplication syndrome, is related to 16p11.2 duplication. An important gene associated with Chromosome 16p11.2 Duplication Syndrome is DUP16P11.2 (Chromosome 16p11.2 Duplication Syndrome). Affiliated tissues include eye, and related phenotypes are intellectual disability and failure to thrive

More information from OMIM: 614671

Related Diseases for Chromosome 16p11.2 Duplication Syndrome

Diseases related to Chromosome 16p11.2 Duplication Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 16p11.2 duplication 11.4

Symptoms & Phenotypes for Chromosome 16p11.2 Duplication Syndrome

Human phenotypes related to Chromosome 16p11.2 Duplication Syndrome:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
3 tremor 58 31 hallmark (90%) Very frequent (99-80%) HP:0001337
4 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
5 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
6 microtia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008551
7 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
8 smooth philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000319
9 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
10 flat face 58 31 hallmark (90%) Very frequent (99-80%) HP:0012368
11 motor delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001270
12 arachnodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001166
13 thin upper lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000219
14 deeply set eye 58 31 hallmark (90%) Very frequent (99-80%) HP:0000490
15 hyporeflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001265
16 sparse eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0045075
17 sparse eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0000653
18 abnormal basal ganglia mri signal intensity 58 31 hallmark (90%) Very frequent (99-80%) HP:0012751
19 speech articulation difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0009088
20 decreased body mass index 58 31 hallmark (90%) Very frequent (99-80%) HP:0045082
21 hypotonia 31 hallmark (90%) HP:0001252
22 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
23 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
24 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
25 obsessive-compulsive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000722
26 abnormal visual accommodation 58 31 frequent (33%) Frequent (79-30%) HP:0030800
27 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
28 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
29 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
30 bipolar affective disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007302
31 schizophrenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100753
32 congenital diaphragmatic hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000776
33 underdeveloped supraorbital ridges 58 31 occasional (7.5%) Occasional (29-5%) HP:0009891
34 abnormality of the hairline 58 31 occasional (7.5%) Occasional (29-5%) HP:0009553
35 seizure 31 occasional (7.5%) HP:0001250
36 micropenis 58 31 very rare (1%) Very rare (<4-1%) HP:0000054
37 hemivertebrae 58 31 very rare (1%) Very rare (<4-1%) HP:0002937
38 seizures 58 Occasional (29-5%)
39 muscular hypotonia 58 Very frequent (99-80%)
40 autistic behavior 58 Frequent (79-30%)

Clinical features from OMIM®:

614671 (Updated 20-May-2021)

Drugs & Therapeutics for Chromosome 16p11.2 Duplication Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 16p11.2 Duplication Syndrome

Genetic Tests for Chromosome 16p11.2 Duplication Syndrome

Genetic tests related to Chromosome 16p11.2 Duplication Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 16p11.2 Duplication Syndrome 29

Anatomical Context for Chromosome 16p11.2 Duplication Syndrome

MalaCards organs/tissues related to Chromosome 16p11.2 Duplication Syndrome:

40
Eye

Publications for Chromosome 16p11.2 Duplication Syndrome

Articles related to Chromosome 16p11.2 Duplication Syndrome:

(show all 18)
# Title Authors PMID Year
1
Phenotypic heterogeneity of genomic disorders and rare copy-number variants. 57
22970919 2012
2
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. 57
22596160 2012
3
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. 57
21792059 2011
4
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 57
21844811 2011
5
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. 57
21881559 2011
6
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. 57
21658581 2011
7
Rare de novo and transmitted copy-number variation in autistic spectrum disorders. 57
21658582 2011
8
Narrowing the critical deletion region for autism spectrum disorders on 16p11.2. 57
21302354 2011
9
Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia. 57
20959866 2011
10
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. 57
19914906 2010
11
Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder. 57
19755429 2010
12
Microduplications of 16p11.2 are associated with schizophrenia. 57
19855392 2009
13
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. 57
19404257 2009
14
Population analysis of large copy number variants and hotspots of human genetic disease. 57
19166990 2009
15
Association between microdeletion and microduplication at 16p11.2 and autism. 57
18184952 2008
16
Structural variation of chromosomes in autism spectrum disorder. 57
18252227 2008
17
A hot spot of genetic instability in autism. 57
18184953 2008
18
Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT. 57
15830322 2005

Variations for Chromosome 16p11.2 Duplication Syndrome

ClinVar genetic disease variations for Chromosome 16p11.2 Duplication Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 21 genes GRCh37/hg19 16p11.2(chr16:29827174-30198041) copy number gain Pathogenic 625610 GRCh37: 16:29827174-30198041
GRCh38:
2 overlap with 11 genes GRCh37/hg19 16p11.2(chr16:29727054-29969912) copy number gain Pathogenic 625608 GRCh37: 16:29727054-29969912
GRCh38:
3 overlap with 27 genes GRCh37/hg19 16p11.2(chr16:29678569-30199578) copy number gain Pathogenic 625607 GRCh37: 16:29678569-30199578
GRCh38:
4 overlap with 27 genes GRCh37/hg19 16p11.2(chr16:29595483-30199713) copy number gain Pathogenic 625604 GRCh37: 16:29595483-30199713
GRCh38:
5 overlap with 30 genes GRCh37/hg19 16p11.2(chr16:29532264-30271237) copy number gain Pathogenic 625603 GRCh37: 16:29532264-30271237
GRCh38:

Expression for Chromosome 16p11.2 Duplication Syndrome

Search GEO for disease gene expression data for Chromosome 16p11.2 Duplication Syndrome.

Pathways for Chromosome 16p11.2 Duplication Syndrome

GO Terms for Chromosome 16p11.2 Duplication Syndrome

Sources for Chromosome 16p11.2 Duplication Syndrome

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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