MCID: CHR368
MIFTS: 20

Chromosome Xp11.23-P11.22 Duplication Syndrome

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 57 12 53 29 13 73
Microduplication Xp11.22-P11.23 Syndrome 12 53 59
Trisomy Xp11.22-P11.23 12 53 59

Characteristics:

Orphanet epidemiological data:

59
microduplication xp11.22-p11.23 syndrome
Inheritance: Not applicable,X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Miscellaneous:
variable phenotype

Inheritance:
x-linked dominant


HPO:

32
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 : 53 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 obesity and precocious puberty

Description from OMIM: 300801

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

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
2 precocious puberty 59 32 frequent (33%) Frequent (79-30%) HP:0000826
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
5 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
6 pes planus 59 32 frequent (33%) Frequent (79-30%) HP:0001763
7 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
8 pes cavus 59 32 frequent (33%) Frequent (79-30%) HP:0001761
9 nasal speech 59 32 frequent (33%) Frequent (79-30%) HP:0001611
10 hoarse voice 59 32 frequent (33%) Frequent (79-30%) HP:0001609
11 toe syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001770
12 eeg with centrotemporal focal spike waves 59 32 frequent (33%) Frequent (79-30%) HP:0012557
13 eeg abnormality 32 HP:0002353
14 shyness 32 HP:0100962
15 absence seizures 32 HP:0002121
16 intellectual disability, borderline 32 HP:0006889
17 syndactyly 32 HP:0001159
18 poor speech 32 HP:0002465

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 29

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 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
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42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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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
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