MCID: CHR498
MIFTS: 23

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 72
Proximal 16p11.2 Microduplication Syndrome 12 59
Proximal Trisomy 16p11.2 12 59
Proximal Dup(16)(p11.2) 12 59
Autism, Susceptibility to, 14b 57
Autism 14b 57

Classifications:



External Ids:

Disease Ontology 12 DOID:0060430
OMIM 57 614671
ICD10 33 Q92.3
ICD10 via Orphanet 34 Q92.3
Orphanet 59 ORPHA370079
UMLS 72 C3553407

Summaries for Chromosome 16p11.2 Duplication Syndrome

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 hypertelorism and frontal bossing

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 11.6

Symptoms & Phenotypes for Chromosome 16p11.2 Duplication Syndrome

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

59 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 Very frequent (99-80%)
2 frontal bossing 59 Occasional (29-5%)
3 intellectual disability 59 Very frequent (99-80%)
4 seizures 59 Occasional (29-5%)
5 muscular hypotonia 59 Very frequent (99-80%)
6 tremor 59 Very frequent (99-80%)
7 failure to thrive 59 Very frequent (99-80%)
8 scoliosis 59 Occasional (29-5%)
9 global developmental delay 59 Frequent (79-30%)
10 delayed speech and language development 59 Very frequent (99-80%)
11 microtia 59 Very frequent (99-80%)
12 microcephaly 59 Very frequent (99-80%)
13 smooth philtrum 59 Very frequent (99-80%)
14 short stature 59 Very frequent (99-80%)
15 autism 59 Occasional (29-5%)
16 attention deficit hyperactivity disorder 59 Frequent (79-30%)
17 flat face 59 Very frequent (99-80%)
18 anxiety 59 Frequent (79-30%)
19 motor delay 59 Very frequent (99-80%)
20 deeply set eye 59 Very frequent (99-80%)
21 micropenis 59 Very rare (<4-1%)
22 obsessive-compulsive behavior 59 Frequent (79-30%)
23 hemivertebrae 59 Very rare (<4-1%)
24 arachnodactyly 59 Very frequent (99-80%)
25 bipolar affective disorder 59 Occasional (29-5%)
26 schizophrenia 59 Occasional (29-5%)
27 thin upper lip vermilion 59 Very frequent (99-80%)
28 congenital diaphragmatic hernia 59 Occasional (29-5%)
29 hyporeflexia 59 Very frequent (99-80%)
30 abnormal basal ganglia mri signal intensity 59 Very frequent (99-80%)
31 underdeveloped supraorbital ridges 59 Occasional (29-5%)
32 autistic behavior 59 Frequent (79-30%)
33 sparse eyebrow 59 Very frequent (99-80%)
34 sparse eyelashes 59 Very frequent (99-80%)
35 speech articulation difficulties 59 Very frequent (99-80%)
36 decreased body mass index 59 Very frequent (99-80%)
37 abnormality of the hairline 59 Occasional (29-5%)
38 abnormal visual accommodation 59 Frequent (79-30%)

Clinical features from OMIM:

614671

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:

41
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. 8
22970919 2012
2
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. 8
22596160 2012
3
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. 8
21792059 2011
4
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 8
21844811 2011
5
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. 8
21881559 2011
6
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. 8
21658581 2011
7
Rare de novo and transmitted copy-number variation in autistic spectrum disorders. 8
21658582 2011
8
Narrowing the critical deletion region for autism spectrum disorders on 16p11.2. 8
21302354 2011
9
Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia. 8
20959866 2011
10
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. 8
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. 8
19755429 2010
12
Microduplications of 16p11.2 are associated with schizophrenia. 8
19855392 2009
13
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. 8
19404257 2009
14
Population analysis of large copy number variants and hotspots of human genetic disease. 8
19166990 2009
15
Association between microdeletion and microduplication at 16p11.2 and autism. 8
18184952 2008
16
Structural variation of chromosomes in autism spectrum disorder. 8
18252227 2008
17
A hot spot of genetic instability in autism. 8
18184953 2008
18
Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT. 8
15830322 2005

Variations for Chromosome 16p11.2 Duplication Syndrome

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 subset of 30 genes:PRRT2 GRCh37/hg19 16p11.2(chr16: 29532264-30271237) copy number gain Pathogenic 16:29532264-30271237 :0-0
2 subset of 27 genes:PRRT2 GRCh37/hg19 16p11.2(chr16: 29595483-30199713) copy number gain Pathogenic 16:29595483-30199713 :0-0
3 subset of 27 genes:PRRT2 GRCh37/hg19 16p11.2(chr16: 29678569-30199578) copy number gain Pathogenic 16:29678569-30199578 :0-0
4 subset of 11 genes:PRRT2 GRCh37/hg19 16p11.2(chr16: 29727054-29969912) copy number gain Pathogenic 16:29727054-29969912 :0-0
5 subset of 21 genes:PRRT2 GRCh37/hg19 16p11.2(chr16: 29827174-30198041) copy number gain Pathogenic 16:29827174-30198041 :0-0
6 subset of 27 genes:PRRT2 GRCh37/hg19 16p11.2(chr16: 29595483-30199713) copy number loss Pathogenic 16:29595483-30199713 :0-0

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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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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