MCID: CHR621
MIFTS: 27

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 57 6
Chromosome 16p11.2 Deletion Syndrome, 593kb 57 13
Proximal 16p11.2 Microdeletion Syndrome 58
Autism Susceptibility 14a 57
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, also known as chromosome 16p11.2 deletion syndrome, 593kb, is related to chromosome 16p11.2 deletion syndrome, 220-kb and chromosome 16p11.2 deletion syndrome. 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

More information from OMIM: 611913 PS209850

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

Diseases related to Chromosome 16p11.2 Deletion Syndrome, 593-Kb via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 16p11.2 deletion syndrome, 220-kb 9.6 SH2B1 ATP2A1
2 chromosome 16p11.2 deletion syndrome 9.0 SH2B1 CDIPTOSP CDIPT ATP2A1

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 38)
# 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 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
6 autism 58 31 frequent (33%) Frequent (79-30%) HP:0000717
7 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
8 broad forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000337
9 seizure 31 very rare (1%) HP:0001250
10 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
11 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
12 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
13 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
14 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
15 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
16 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
17 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
18 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
19 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
20 anophthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000528
21 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
22 hemivertebrae 58 31 occasional (7.5%) Occasional (29-5%) HP:0002937
23 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
24 hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001161
25 congenital diaphragmatic hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000776
26 pyloric stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002021
27 psychosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000709
28 optic nerve coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000588
29 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
30 aortic regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001659
31 syringomyelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003396
32 hypotonia 31 occasional (7.5%) HP:0001252
33 feeding difficulties in infancy 31 very rare (1%) HP:0008872
34 motor delay 31 very rare (1%) HP:0001270
35 seizures 58 Frequent (79-30%)
36 muscular hypotonia 58 Occasional (29-5%)
37 delayed speech and language development 31 HP:0000750
38 midface retrusion 31 HP:0011800

Clinical features from OMIM®:

611913 (Updated 05-Mar-2021)

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

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

(show all 27)
# Title Authors PMID Year
1
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. 57
22596160 2012
2
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. 57
21792059 2011
3
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 57
21844811 2011
4
Rare de novo and transmitted copy-number variation in autistic spectrum disorders. 57
21658582 2011
5
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. 57
21658581 2011
6
Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. 57
21525063 2011
7
Narrowing the critical deletion region for autism spectrum disorders on 16p11.2. 57
21302354 2011
8
Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia. 57
20959866 2011
9
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. 57
19914906 2010
10
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
11
Large, rare chromosomal deletions associated with severe early-onset obesity. 57
19966786 2010
12
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. 57
20130649 2010
13
Microduplications of 16p11.2 are associated with schizophrenia. 57
19855392 2009
14
A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae. 57
19770079 2009
15
Further characterization of the new microdeletion syndrome of 16p11.2-p12.2. 57
19449418 2009
16
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. 57
19404257 2009
17
Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion. 57
19097825 2009
18
Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. 57
19306953 2009
19
Population analysis of large copy number variants and hotspots of human genetic disease. 57
19166990 2009
20
The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency. 57
18836449 2008
21
Association between microdeletion and microduplication at 16p11.2 and autism. 57
18184952 2008
22
Structural variation of chromosomes in autism spectrum disorder. 57
18252227 2008
23
A hot spot of genetic instability in autism. 57
18184953 2008
24
Recurrent 16p11.2 microdeletions in autism. 57
18156158 2008
25
Strong association of de novo copy number mutations with autism. 57
17363630 2007
26
Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT. 57
15830322 2005
27
Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations. 57
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 CDIPTOSP 16p11.2 recurrent region (BP4-BP5) Deletion Pathogenic 41405 16:29649997-30199852 16:29638676-30188531
2 CDIPT GRCh37/hg19 16p11.2(chr16:29042050-30199025) copy number loss Pathogenic 625602 16:29042050-30199025
3 CDIPT GRCh37/hg19 16p11.2(chr16:29673203-30133233) copy number loss Pathogenic 625605 16:29673203-30133233
4 CDIPT GRCh37/hg19 16p11.2(chr16:29678569-30199402) copy number loss Pathogenic 625606 16:29678569-30199402
5 CDIPT GRCh37/hg19 16p11.2(chr16:29595483-30199713) copy number loss Pathogenic 625650 16:29595483-30199713
6 CDIPT GRCh37/hg19 16p11.2(chr16:29673203-30199713) copy number loss Pathogenic 625688 16:29673203-30199713
7 CDIPT GRCh37/hg19 16p11.2(chr16:29674336-30199351)x1 copy number loss Pathogenic 666439 16:29674336-30199351
8 CDIPT GRCh37/hg19 16p11.2(chr16:29674336-30198123)x1 copy number loss Pathogenic 666440 16:29674336-30198123
9 ATP2A1 Deletion Pathogenic 812191 16:28837450-29042118
10 CDIPT Deletion risk factor 974579 16:29446604-30218886

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

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
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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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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