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 58 12 30 74

Characteristics:

OMIM:

58
Inheritance:
isolated cases

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


HPO:

33
chromosome 22q13 duplication syndrome:
Inheritance sporadic


Classifications:



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

Description 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:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 global developmental delay 33 HP:0001263
3 anteverted nares 33 HP:0000463
4 attention deficit hyperactivity disorder 33 HP:0007018
5 upslanted palpebral fissure 33 HP:0000582
6 bipolar affective disorder 33 HP:0007302
7 polyphagia 33 HP:0002591
8 epicanthus inversus 33 HP:0000537
9 narrow nasal ridge 33 HP:0000418

Symptoms via clinical synopsis from OMIM:

58
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 30

Anatomical Context for Chromosome 22q13 Duplication Syndrome

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

42
Brain

Publications for Chromosome 22q13 Duplication Syndrome

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
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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