DUP
MCID: CHR368
MIFTS: 21

Chromosome Xp11.23-P11.22 Duplication Syndrome (DUP)

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

Aliases & Classifications for Chromosome Xp11.23-P11.22 Duplication Syndrome

MalaCards integrated aliases for Chromosome Xp11.23-P11.22 Duplication Syndrome:

Name: Chromosome Xp11.23-P11.22 Duplication Syndrome 58 12 54 30 13 74
Microduplication Xp11.22-P11.23 Syndrome 12 54
Microduplication Xp11.22p11.23 Syndrome 54 60
Trisomy Xp11.22-P11.23 12 54
Trisomy Xp11.22p11.23 54 60
Dup 54 60

Characteristics:

Orphanet epidemiological data:

60
microduplication xp11.22p11.23 syndrome
Inheritance: Not applicable,X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Miscellaneous:
variable phenotype

Inheritance:
x-linked dominant


HPO:

33
chromosome xp11.23-p11.22 duplication syndrome:
Onset and clinical course phenotypic variability
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Chromosome Xp11.23-P11.22 Duplication Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 217377Disease definitionFamilial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.EpidemiologyTo date, twelve patients have been described.Clinical descriptionAll patients show moderate to severe intellectual deficit and speech delay. Seizures, early puberty and lower-extremity anomalies, including pes planus or cavus, 5th toe hypoplasia, and syndactyly, are common. A peculiar electroencephalographic (EEG) pattern characterized by rolandic-like spikes and/or continuous spike wave during slow sleep (CSWS) exists in childhood.EtiologyThe microduplication was identified by microarray-based comparative genomic hybridization (aCGH). Most affected females show preferential activation of the duplicated X chromosome. Duplications are mediated by nonallelic homologous recombination (NAHR) or Alu-mediated recombination.Visit the Orphanet disease page for more resources.

MalaCards based summary : Chromosome Xp11.23-P11.22 Duplication Syndrome, is also known as microduplication xp11.22-p11.23 syndrome, and has symptoms including hoarseness An important gene associated with Chromosome Xp11.23-P11.22 Duplication Syndrome is DUPXP11.23P11.22 (Chromosome Xp11.23-P11.22 Duplication Syndrome). Related phenotypes are intellectual disability and delayed speech and language development

Description from OMIM: 300801

Related Diseases for Chromosome Xp11.23-P11.22 Duplication Syndrome

Symptoms & Phenotypes for Chromosome Xp11.23-P11.22 Duplication Syndrome

Human phenotypes related to Chromosome Xp11.23-P11.22 Duplication Syndrome:

60 33 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
3 obesity 60 33 frequent (33%) Frequent (79-30%) HP:0001513
4 precocious puberty 60 33 frequent (33%) Frequent (79-30%) HP:0000826
5 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
6 pes planus 60 33 frequent (33%) Frequent (79-30%) HP:0001763
7 pes cavus 60 33 frequent (33%) Frequent (79-30%) HP:0001761
8 nasal speech 60 33 frequent (33%) Frequent (79-30%) HP:0001611
9 hoarse voice 60 33 frequent (33%) Frequent (79-30%) HP:0001609
10 toe syndactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001770
11 eeg with centrotemporal focal spike waves 60 33 frequent (33%) Frequent (79-30%) HP:0012557
12 autism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000717
13 eeg abnormality 33 HP:0002353
14 shyness 33 HP:0100962
15 intellectual disability, borderline 33 HP:0006889
16 syndactyly 33 HP:0001159
17 poor speech 33 HP:0002465
18 absence seizure 33 HP:0002121

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
pes planus
pes cavus
syndactyly
fifth toe hypoplasia

Voice:
hoarse voice
nasal voice

Growth Weight:
excessive weight

Neurologic Behavioral Psychiatric Manifestations:
shyness
stubbornness
autistic-like features

Neurologic Central Nervous System:
eeg abnormalities
mental retardation, borderline to severe
poor speech articulation
subclinical absence seizures
diffuse paroxysmal discharges
more
Endocrine Features:
early puberty

Clinical features from OMIM:

300801

UMLS symptoms related to Chromosome Xp11.23-P11.22 Duplication Syndrome:


hoarseness

Drugs & Therapeutics for Chromosome Xp11.23-P11.22 Duplication Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome Xp11.23-P11.22 Duplication Syndrome

Genetic Tests for Chromosome Xp11.23-P11.22 Duplication Syndrome

Genetic tests related to Chromosome Xp11.23-P11.22 Duplication Syndrome:

# Genetic test Affiliating Genes
1 Chromosome Xp11.23-P11.22 Duplication Syndrome 30

Anatomical Context for Chromosome Xp11.23-P11.22 Duplication Syndrome

Publications for Chromosome Xp11.23-P11.22 Duplication Syndrome

Variations for Chromosome Xp11.23-P11.22 Duplication Syndrome

Expression for Chromosome Xp11.23-P11.22 Duplication Syndrome

Search GEO for disease gene expression data for Chromosome Xp11.23-P11.22 Duplication Syndrome.

Pathways for Chromosome Xp11.23-P11.22 Duplication Syndrome

GO Terms for Chromosome Xp11.23-P11.22 Duplication Syndrome

Sources for Chromosome Xp11.23-P11.22 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
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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55 NINDS
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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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