MCID: CHR503
MIFTS: 13

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 57 12 29 72

Characteristics:

OMIM:

57
Inheritance:
isolated cases

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


HPO:

32
chromosome 22q13 duplication syndrome:
Inheritance sporadic


Classifications:



External Ids:

Disease Ontology 12 DOID:0060437
OMIM 57 615538
MedGen 42 C3809844
UMLS 72 C3809844

Summaries for Chromosome 22q13 Duplication Syndrome

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 seizures and global developmental delay

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:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 global developmental delay 32 HP:0001263
3 anteverted nares 32 HP:0000463
4 attention deficit hyperactivity disorder 32 HP:0007018
5 upslanted palpebral fissure 32 HP:0000582
6 bipolar affective disorder 32 HP:0007302
7 polyphagia 32 HP:0002591
8 epicanthus inversus 32 HP:0000537
9 narrow nasal ridge 32 HP:0000418

Symptoms via clinical synopsis from OMIM:

57
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:

41
Brain

Publications for Chromosome 22q13 Duplication Syndrome

Articles related to Chromosome 22q13 Duplication Syndrome:

# Title Authors PMID Year
1
SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties. 8
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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