MCID: CHR704
MIFTS: 25

Chromosome 16p11.2 Deletion Syndrome

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 16p11.2 Deletion Syndrome

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

Name: Chromosome 16p11.2 Deletion Syndrome 12 52
16p11.2 Deletion Syndrome 52 25 29 6
Chromosome 16p11.2 Deletion Syndrome, 220kb 15
Distal 16p11.2 Microdeletion Syndrome 12
Autism, Susceptibility to, 14a 25
Microdeletion 16p11.2 52
Monosomy 16p11.2 52
Del(16)(p11.2) 52
Auts14a 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0060398
ICD10 32 Q93.5

Summaries for Chromosome 16p11.2 Deletion Syndrome

Genetics Home Reference : 25 16p11.2 deletion syndrome is a disorder caused by a deletion of a small piece of chromosome 16. The deletion occurs near the middle of the chromosome at a location designated p11.2. People with 16p11.2 deletion syndrome usually have developmental delay and intellectual disability. Most also have at least some features of autism spectrum disorders. These disorders are characterized by impaired communication and socialization skills, as well as delayed development of speech and language. In 16p11.2 deletion syndrome, expressive language skills (vocabulary and the production of speech) are generally more severely affected than receptive language skills (the ability to understand speech). Some people with this disorder have recurrent seizures (epilepsy). Some affected individuals have minor physical abnormalities such as low-set ears or partially webbed toes (partial syndactyly). People with this disorder are also at increased risk of obesity compared with the general population. However, there is no particular pattern of physical abnormalities that characterizes 16p11.2 deletion syndrome. Signs and symptoms of the disorder vary even among affected members of the same family. Some people with the deletion have no identified physical, intellectual, or behavioral abnormalities.

MalaCards based summary : Chromosome 16p11.2 Deletion Syndrome, also known as 16p11.2 deletion syndrome, is related to chromosome 16p11.2 deletion syndrome, 220-kb and chromosome 16p11.2 deletion syndrome, 593-kb. An important gene associated with Chromosome 16p11.2 Deletion Syndrome is BMIQ16 (Chromosome 16p11.2 Deletion Syndrome, 220kb). The drugs Baclofen and GABA Agonists have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and prefrontal cortex.

Disease Ontology : 12 A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has material basis in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 encompassing approximately 9 genes, including the SH2B1 gene.

NIH Rare Diseases : 52 16p11.2 deletion syndrome is a condition caused by a missing piece (deletion) on a specific region of chromosome 16 designated as p11.2. People with 16p11.2 deletion syndrome usually have developmental delay and intellectual disability . Most also have at least some features of autism spectrum disorder . Some affected people have minor physical abnormalities; however, signs and symptoms vary. Some affected people appear to have no physical, intellectual, or behavioral abnormalities. Most cases of 16p11.2 deletion syndrome are not inherited , although affected people can pass the condition on to their children.

Related Diseases for Chromosome 16p11.2 Deletion Syndrome

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 chromosome 16p11.2 deletion syndrome, 220-kb 32.8 SH2B1 BMIQ16
2 chromosome 16p11.2 deletion syndrome, 593-kb 12.6
3 autism spectrum disorder 10.4
4 alacrima, achalasia, and mental retardation syndrome 10.2
5 autism 10.2
6 ceroid lipofuscinosis, neuronal, 3 9.9
7 ataxia and polyneuropathy, adult-onset 9.9
8 neuronal ceroid lipofuscinosis 9.9
9 hyperinsulinism 9.9
10 peripheral nervous system disease 9.9
11 neuropathy 9.9
12 hypoglycemia 9.9
13 16p11.2 recurrent microdeletion 9.9
14 zellweger spectrum disorder 9.9

Graphical network of the top 20 diseases related to Chromosome 16p11.2 Deletion Syndrome:



Diseases related to Chromosome 16p11.2 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 16p11.2 Deletion Syndrome

Drugs & Therapeutics for Chromosome 16p11.2 Deletion Syndrome

Drugs for Chromosome 16p11.2 Deletion Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Baclofen Approved Phase 2 1134-47-0 2284
2 GABA Agonists Phase 2
3 Neurotransmitter Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Exploratory, Randomized, Double-Blind, Placebo-Controlled Study of the Safety, Tolerability, and Efficacy of Arbaclofen in Subjects With 16p11.2 Deletion Not yet recruiting NCT04271332 Phase 2 Arbaclofen;Placebo oral tablet
2 Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight Recruiting NCT01238250

Search NIH Clinical Center for Chromosome 16p11.2 Deletion Syndrome

Genetic Tests for Chromosome 16p11.2 Deletion Syndrome

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

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

Anatomical Context for Chromosome 16p11.2 Deletion Syndrome

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

40
Brain, Cortex, Prefrontal Cortex

Publications for Chromosome 16p11.2 Deletion Syndrome

Articles related to Chromosome 16p11.2 Deletion Syndrome:

(show all 22)
# Title Authors PMID Year
1
Hyperinsulinism in a patient with a Zellweger Spectrum Disorder and a 16p11.2 deletion syndrome. 61
32373468 2020
2
Male-Specific Alterations in Structure of Isolation Call Sequences of Mouse Pups with 16p11.2 Deletion. 61
32558237 2020
3
Who ever heard of 16p11.2 deletion syndrome? Parents' perspectives on a susceptibility copy number variation syndrome. 61
32415274 2020
4
Hyperinsulinaemic hypoglycaemia: A new presentation of 16p11.2 deletion syndrome. 61
30776145 2019
5
Altered structural brain connectivity involving the dorsal and ventral language pathways in 16p11.2 deletion syndrome. 61
29629500 2019
6
[A girl with 16p11.2 deletion syndrome]. 61
30945833 2019
7
Bifocal germinoma in a patient with 16p11.2 microdeletion syndrome. 61
30738016 2019
8
Mayer-Rokitansky-Küster-Hauser Syndrome and 16p11.2 Recurrent Microdeletion: A Case Report and Review of the Literature. 61
29730431 2018
9
Chemogenetic Activation of Prefrontal Cortex Rescues Synaptic and Behavioral Deficits in a Mouse Model of 16p11.2 Deletion Syndrome. 61
29853627 2018
10
16p11.2 deletion syndrome mice perseverate with active coping response to acute stress - rescue by blocking 5-HT2A receptors. 61
28948999 2017
11
Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving DOCK8, KANK1, EHMT1 genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis. 61
27891178 2016
12
16p11.2 Deletion mice display cognitive deficits in touchscreen learning and novelty recognition tasks. 61
26572653 2015
13
16p11.2 Deletion Syndrome Mice Display Sensory and Ultrasonic Vocalization Deficits During Social Interactions. 61
25663600 2015
14
In tribute to Bob Blanchard: Divergent behavioral phenotypes of 16p11.2 deletion mice reared in same-genotype versus mixed-genotype cages. 61
26066718 2015
15
Developmental presentation, medical complexities, and service delivery for a child with 16p11.2 deletion syndrome. 61
25521272 2015
16
Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p11.2 deletion syndrome. 61
24794428 2014
17
An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3. 61
23860047 2014
18
Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome. 61
24100940 2013
19
Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy. 61
23686817 2013
20
The atypical 16p11.2 deletion: a not so atypical microdeletion syndrome? 61
21465664 2011
21
Cognitive and behavioral characterization of 16p11.2 deletion syndrome. 61
20613623 2010
22
Novel microdeletion syndromes detected by chromosome microarrays. 61
18512078 2008

Variations for Chromosome 16p11.2 Deletion Syndrome

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 30 genes: PRRT2 GRCh37/hg19 16p11.2(chr16:29042050-30199025)copy number loss Pathogenic 625602 16:29042050-30199025
2 subset of 27 genes: PRRT2 GRCh37/hg19 16p11.2(chr16:29595483-30199713)copy number gain Pathogenic 625604 16:29595483-30199713
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
9 ATP2A1 , ATXN2L , CD19 , LAT , NFATC2IP , RABEP2 , SH2B1 , SPNS1 , TUFM deletion Pathogenic 812191 16:28837450-29042118
10 subset of 33 genes: PRRT2 16p11.2 recurrent region (BP4-BP5)deletion Pathogenic 41405 16:29649997-30199852 16:29638676-30188531

Expression for Chromosome 16p11.2 Deletion Syndrome

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

Pathways for Chromosome 16p11.2 Deletion Syndrome

GO Terms for Chromosome 16p11.2 Deletion Syndrome

Sources for Chromosome 16p11.2 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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