MCID: 16P008
MIFTS: 13

16p11.2 Duplication

Categories: Rare diseases

Aliases & Classifications for 16p11.2 Duplication

MalaCards integrated aliases for 16p11.2 Duplication:

Name: 16p11.2 Duplication 49 24
16p11.2 Duplication Syndrome 49 24
16p11.2 Microduplication 49 24
Auts14b 49 24
Autism, Susceptibility to, 14b 24
Susceptibility to Autism, 14b 49

Classifications:



Summaries for 16p11.2 Duplication

NIH Rare Diseases : 49 16p11.2 duplication is a chromosomal change in which a small amount of genetic material within chromosome 16 is abnormally copied (duplicated). This duplication occurs in the short (p) arm of chromosome 16 at a position known as 11.2. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms while others may have features such as low weight; small head size; behavioral problems; features of autism spectrum disorder; developmental delay; intellectual disability; and speech and language delays. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on signs and symptoms present in each individual.  Last updated: 9/12/2016

MalaCards based summary : 16p11.2 Duplication, also known as 16p11.2 duplication syndrome, is related to chromosome 16p11.2 duplication syndrome and autism. An important gene associated with 16p11.2 Duplication is DUP16P11.2 (Chromosome 16p11.2 Duplication Syndrome).

Genetics Home Reference : 24 16p11.2 duplication is a chromosomal change in which a small amount of genetic material within chromosome 16 is abnormally copied (duplicated). The duplication occurs near the middle of the chromosome at a location designated p11.2. This duplication can have a variety of effects. Common characteristics that occur in people with a 16p11.2 duplication include a low weight; a small head size (microcephaly); and developmental delay, especially in speech and language. Affected individuals also have an increased risk of behavioral problems. However, some people with the duplication have no identified physical or behavioral abnormalities.

Related Diseases for 16p11.2 Duplication

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

# Related Disease Score Top Affiliating Genes
1 chromosome 16p11.2 duplication syndrome 12.2
2 autism 9.9
3 autism spectrum disorder 9.9
4 transposition of the great arteries 9.9

Symptoms & Phenotypes for 16p11.2 Duplication

Drugs & Therapeutics for 16p11.2 Duplication

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Online Study of Individuals With Genetic Changes and Features of Autism: Simons Variation in Individuals Project (Simons VIP) Recruiting NCT01238250

Search NIH Clinical Center for 16p11.2 Duplication

Genetic Tests for 16p11.2 Duplication

Anatomical Context for 16p11.2 Duplication

Publications for 16p11.2 Duplication

Articles related to 16p11.2 Duplication:

# Title Authors Year
1
Transposition of the great arteries - a phenotype associated with 16p11.2 duplications? ( 29317992 )
2017
2
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. ( 26629640 )
2016
3
Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication. ( 27207092 )
2016
4
Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication. ( 27832746 )
2016
5
Auditory Evoked M100 Response Latency is Delayed in Children with 16p11.2 Deletion but not 16p11.2 Duplication. ( 25678630 )
2015

Variations for 16p11.2 Duplication

Expression for 16p11.2 Duplication

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

Pathways for 16p11.2 Duplication

GO Terms for 16p11.2 Duplication

Sources for 16p11.2 Duplication

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70 UMLS via Orphanet
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