MCID: CHR503
MIFTS: 15

Chromosome 22q13 Duplication Syndrome

Categories: Genetic diseases

Aliases & Classifications for Chromosome 22q13 Duplication Syndrome

MalaCards integrated aliases for Chromosome 22q13 Duplication Syndrome:

Name: Chromosome 22q13 Duplication Syndrome 56 12 29 71

Characteristics:

OMIM:

56
Inheritance:
isolated cases

Miscellaneous:
based on report of 2 individuals (last curated november 2013)


HPO:

31
chromosome 22q13 duplication syndrome:
Inheritance sporadic


Classifications:



Summaries for Chromosome 22q13 Duplication Syndrome

Disease Ontology : 12 A chromosomal duplication syndrome that has material basis in duplication of the chromosome 22q13 region.

MalaCards based summary : Chromosome 22q13 Duplication Syndrome An important gene associated with Chromosome 22q13 Duplication Syndrome is DUP22Q13 (Chromosome 22q13 Duplication Syndrome). Affiliated tissues include brain, and related phenotypes are global developmental delay and anteverted nares

More information from OMIM: 615538

Related Diseases for Chromosome 22q13 Duplication Syndrome

Symptoms & Phenotypes for Chromosome 22q13 Duplication Syndrome

Human phenotypes related to Chromosome 22q13 Duplication Syndrome:

31 (showing 9, show less)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 anteverted nares 31 HP:0000463
3 attention deficit hyperactivity disorder 31 HP:0007018
4 upslanted palpebral fissure 31 HP:0000582
5 bipolar affective disorder 31 HP:0007302
6 polyphagia 31 HP:0002591
7 epicanthus inversus 31 HP:0000537
8 narrow nasal ridge 31 HP:0000418
9 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
anteverted nares
pinched nose

Neurologic Central Nervous System:
developmental delay
learning disability
bipolar disorder
structurally normal brain
generalized tonic-clnic seizures

Head And Neck Eyes:
epicanthus inversus
upslanting palpebral fissures

Neurologic Behavioral Psychiatric Manifestations:
hyperphagia
attention deficit-hyperactivity disorder (adhd)
kleptomania
destructive behavior
auditory overstimulation

Clinical features from OMIM:

615538

Drugs & Therapeutics for Chromosome 22q13 Duplication Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 22q13 Duplication Syndrome

Genetic Tests for Chromosome 22q13 Duplication Syndrome

Genetic tests related to Chromosome 22q13 Duplication Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 22q13 Duplication Syndrome 29

Anatomical Context for Chromosome 22q13 Duplication Syndrome

MalaCards organs/tissues related to Chromosome 22q13 Duplication Syndrome:

40
Brain

Publications for Chromosome 22q13 Duplication Syndrome

Articles related to Chromosome 22q13 Duplication Syndrome:

(showing 1, show less)
# Title Authors PMID Year
1
SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties. 56
24153177 2013

Variations for Chromosome 22q13 Duplication Syndrome

Expression for Chromosome 22q13 Duplication Syndrome

Search GEO for disease gene expression data for Chromosome 22q13 Duplication Syndrome.

Pathways for Chromosome 22q13 Duplication Syndrome

GO Terms for Chromosome 22q13 Duplication Syndrome

Sources for Chromosome 22q13 Duplication 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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