MCID: CHR498
MIFTS: 13

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 58 12 30 13 74
Proximal 16p11.2 Microduplication Syndrome 12 60
Proximal Trisomy 16p11.2 12 60
Proximal Dup(16)(p11.2) 12 60
Autism, Susceptibility to, 14b 58
Autism 14b 58

Classifications:



External Ids:

Disease Ontology 12 DOID:0060430
OMIM 58 614671
ICD10 34 Q92.3
ICD10 via Orphanet 35 Q92.3
Orphanet 60 ORPHA370079
UMLS 74 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).

Description 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 11.4

Symptoms & Phenotypes for Chromosome 16p11.2 Duplication Syndrome

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 30

Anatomical Context for Chromosome 16p11.2 Duplication Syndrome

Publications for Chromosome 16p11.2 Duplication Syndrome

Variations for Chromosome 16p11.2 Duplication Syndrome

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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