MCID: 16P002
MIFTS: 16

16p11.2 Deletion Syndrome

Categories: Rare diseases

Aliases & Classifications for 16p11.2 Deletion Syndrome

MalaCards integrated aliases for 16p11.2 Deletion Syndrome:

Name: 16p11.2 Deletion Syndrome 53 25 29 6 73
Chromosome 16p11.2 Deletion Syndrome 53
Autism, Susceptibility to, 14a 25
Microdeletion 16p11.2 53
Monosomy 16p11.2 53
Del(16)(p11.2) 53
Auts14a 25

Classifications:



External Ids:

UMLS 73 C3697355

Summaries for 16p11.2 Deletion Syndrome

NIH Rare Diseases : 53 16p11.2 deletionsyndrome 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.

MalaCards based summary : 16p11.2 Deletion Syndrome, also known as chromosome 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 16p11.2 Deletion Syndrome is BMIQ16 (Chromosome 16p11.2 Deletion Syndrome, 220kb). Affiliated tissues include prefrontal cortex, cortex and brain.

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.

Related Diseases for 16p11.2 Deletion Syndrome

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

# Related Disease Score Top Affiliating Genes
1 chromosome 16p11.2 deletion syndrome, 220-kb 12.2
2 chromosome 16p11.2 deletion syndrome, 593-kb 12.1

Symptoms & Phenotypes for 16p11.2 Deletion Syndrome

Drugs & Therapeutics for 16p11.2 Deletion Syndrome

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

Genetic Tests for 16p11.2 Deletion Syndrome

Genetic tests related to 16p11.2 Deletion Syndrome:

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

Anatomical Context for 16p11.2 Deletion Syndrome

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

41
Prefrontal Cortex, Cortex, Brain

Publications for 16p11.2 Deletion Syndrome

Articles related to 16p11.2 Deletion Syndrome:

# Title Authors Year
1
Chemogenetic Activation of Prefrontal Cortex Rescues Synaptic and Behavioral Deficits in a Mouse Model of 16p11.2 Deletion Syndrome. ( 29853627 )
2018
2
Altered structural brain connectivity involving the dorsal and ventral language pathways in 16p11.2 deletion syndrome. ( 29629500 )
2018
3
16p11.2 Deletion Syndrome Mice Perseverate with Active Coping Response to Acute Stress - Rescue by Blocking 5-HT2A Receptors. ( 28948999 )
2017
4
Developmental presentation, medical complexities, and service delivery for a child with 16p11.2 deletion syndrome. ( 25521272 )
2015
5
16p11.2 Deletion Syndrome Mice Display Sensory and Ultrasonic Vocalization Deficits During Social Interactions. ( 25663600 )
2015
6
Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p11.2 deletion syndrome. ( 24794428 )
2014
7
An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3. ( 23860047 )
2013
8
Cognitive and behavioral characterization of 16p11.2 deletion syndrome. ( 20613623 )
2010

Variations for 16p11.2 Deletion Syndrome

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ~550-kb deletion at 16p11.2 deletion Pathogenic

Expression for 16p11.2 Deletion Syndrome

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

Pathways for 16p11.2 Deletion Syndrome

GO Terms for 16p11.2 Deletion Syndrome

Sources for 16p11.2 Deletion Syndrome

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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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