MCID: CHR498
MIFTS: 13

Chromosome 16p11.2 Duplication Syndrome

Categories: Neuronal diseases, Fetal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Chromosome 16p11.2 Duplication Syndrome

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

Name: Chromosome 16p11.2 Duplication Syndrome 57 12 29 13 73
Proximal 16p11.2 Microduplication Syndrome 12 59
Proximal Trisomy 16p11.2 12 59
Proximal Dup(16)(p11.2) 12 59
Autism, Susceptibility to, 14b 57
Autism 14b 57

Classifications:



External Ids:

OMIM 57 614671
Disease Ontology 12 DOID:0060430
ICD10 33 Q92.3
Orphanet 59 ORPHA370079
ICD10 via Orphanet 34 Q92.3
UMLS 73 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 11.2

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 29

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....