MCID: CHR369
MIFTS: 20

Chromosome Xq28 Duplication Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Chromosome Xq28 Duplication Syndrome

MalaCards integrated aliases for Chromosome Xq28 Duplication Syndrome:

Name: Chromosome Xq28 Duplication Syndrome 57 29 13 72
Distal Xq28 Microduplication Syndrome 59
Distal Trisomy Xq28 59
Distal Dup(x)q(28) 59

Characteristics:

Orphanet epidemiological data:

59
distal xq28 microduplication syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

OMIM 57 300815
ICD10 via Orphanet 34 Q99.8
Orphanet 59 ORPHA293939
UMLS 72 C2749007

Summaries for Chromosome Xq28 Duplication Syndrome

MalaCards based summary : Chromosome Xq28 Duplication Syndrome, is also known as distal xq28 microduplication syndrome. An important gene associated with Chromosome Xq28 Duplication Syndrome is DUPXQ28 (Chromosome Xq28 Duplication Syndrome). Affiliated tissues include eye, and related phenotypes are high palate and depressivity

More information from OMIM: 300815

Related Diseases for Chromosome Xq28 Duplication Syndrome

Symptoms & Phenotypes for Chromosome Xq28 Duplication Syndrome

Human phenotypes related to Chromosome Xq28 Duplication Syndrome:

59 32 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000218
2 depressivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000716
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
5 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
6 microtia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008551
7 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
8 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
9 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
10 generalized muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003324
11 open mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000194
12 broad nasal tip 59 32 hallmark (90%) Very frequent (99-80%) HP:0000455
13 thick lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000179
14 recurrent upper respiratory tract infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002788
15 patent ductus arteriosus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001643
16 attention deficit hyperactivity disorder 59 32 hallmark (90%) Very frequent (99-80%) HP:0007018
17 metatarsus adductus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001840
18 anxiety 59 32 hallmark (90%) Very frequent (99-80%) HP:0000739
19 deeply set eye 59 32 hallmark (90%) Very frequent (99-80%) HP:0000490
20 hypoplasia of the maxilla 59 32 hallmark (90%) Very frequent (99-80%) HP:0000327
21 aggressive behavior 59 32 hallmark (90%) Very frequent (99-80%) HP:0000718
22 dental crowding 59 32 hallmark (90%) Very frequent (99-80%) HP:0000678
23 asthma 59 32 hallmark (90%) Very frequent (99-80%) HP:0002099
24 epistaxis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000421
25 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
26 aplasia/hypoplasia of the eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0100840
27 impulsivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0100710
28 poor eye contact 59 32 hallmark (90%) Very frequent (99-80%) HP:0000817
29 upper eyelid edema 59 32 hallmark (90%) Very frequent (99-80%) HP:0012724
30 neonatal hyperbilirubinemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003265
31 patent foramen ovale 59 32 hallmark (90%) Very frequent (99-80%) HP:0001655
32 abnormality of central sensory function 59 32 hallmark (90%) Very frequent (99-80%) HP:0011730
33 short lingual frenulum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000200
34 delayed fine motor development 59 32 hallmark (90%) Very frequent (99-80%) HP:0010862
35 tip-toe gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0030051
36 absent antihelix 59 32 hallmark (90%) Very frequent (99-80%) HP:0011234
37 stereotypical body rocking 59 32 hallmark (90%) Very frequent (99-80%) HP:0012172
38 clinodactyly 59 32 frequent (33%) Frequent (79-30%) HP:0030084
39 self-biting 59 32 frequent (33%) Frequent (79-30%) HP:0012169
40 predominantly lower limb lymphedema 59 32 frequent (33%) Frequent (79-30%) HP:0003550
41 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
42 cafe-au-lait spot 59 32 occasional (7.5%) Occasional (29-5%) HP:0000957
43 autistic behavior 59 Very frequent (99-80%)

Clinical features from OMIM:

300815

Drugs & Therapeutics for Chromosome Xq28 Duplication Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome Xq28 Duplication Syndrome

Genetic Tests for Chromosome Xq28 Duplication Syndrome

Genetic tests related to Chromosome Xq28 Duplication Syndrome:

# Genetic test Affiliating Genes
1 Chromosome Xq28 Duplication Syndrome 29 CLIC2 RAB39B

Anatomical Context for Chromosome Xq28 Duplication Syndrome

MalaCards organs/tissues related to Chromosome Xq28 Duplication Syndrome:

41
Eye

Publications for Chromosome Xq28 Duplication Syndrome

Articles related to Chromosome Xq28 Duplication Syndrome:

# Title Authors PMID Year
1
Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains. 8
24357492 2014
2
Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions. 8
21984752 2011
3
The LCR at the IKBKG locus is prone to recombine. 8
20380930 2010
4
Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination. 8
20004760 2009
5
X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation. 8
18047645 2007

Variations for Chromosome Xq28 Duplication Syndrome

Expression for Chromosome Xq28 Duplication Syndrome

Search GEO for disease gene expression data for Chromosome Xq28 Duplication Syndrome.

Pathways for Chromosome Xq28 Duplication Syndrome

GO Terms for Chromosome Xq28 Duplication Syndrome

Sources for Chromosome Xq28 Duplication Syndrome

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34 ICD10 via Orphanet
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36 IUPHAR
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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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