MCID: CHR369
MIFTS: 24

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 56 29 13 71
Distal Xq28 Microduplication Syndrome 58
Distal Trisomy Xq28 58
Distal Dup(x)q(28) 58

Characteristics:

Orphanet epidemiological data:

58
distal xq28 microduplication syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Chromosome Xq28 Duplication Syndrome

MalaCards based summary : Chromosome Xq28 Duplication Syndrome, also known as distal xq28 microduplication syndrome, is related to xq28 duplication syndrome, int22h1/int22h2 mediated and epileptic encephalopathy, early infantile, 8. An important gene associated with Chromosome Xq28 Duplication Syndrome is DUPXQ28 (Chromosome Xq28 Duplication Syndrome). Affiliated tissues include eye, and related phenotypes are intellectual disability and depressivity

More information from OMIM: 300815

Related Diseases for Chromosome Xq28 Duplication Syndrome

Diseases related to Chromosome Xq28 Duplication Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 3, show less)
# Related Disease Score Top Affiliating Genes
1 xq28 duplication syndrome, int22h1/int22h2 mediated 9.5 RAB39B CLIC2
2 epileptic encephalopathy, early infantile, 8 9.4 RAB39B CLIC2
3 non-syndromic x-linked intellectual disability 9.2 RAB39B CLIC2

Symptoms & Phenotypes for Chromosome Xq28 Duplication Syndrome

Human phenotypes related to Chromosome Xq28 Duplication Syndrome:

58 31 (showing 43, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 depressivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000716
3 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
6 microtia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008551
7 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
8 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
9 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
10 generalized muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003324
11 open mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000194
12 broad nasal tip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000455
13 thick lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000179
14 recurrent upper respiratory tract infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002788
15 patent ductus arteriosus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001643
16 attention deficit hyperactivity disorder 58 31 hallmark (90%) Very frequent (99-80%) HP:0007018
17 metatarsus adductus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001840
18 anxiety 58 31 hallmark (90%) Very frequent (99-80%) HP:0000739
19 deeply set eye 58 31 hallmark (90%) Very frequent (99-80%) HP:0000490
20 aggressive behavior 58 31 hallmark (90%) Very frequent (99-80%) HP:0000718
21 neonatal hyperbilirubinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003265
22 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
23 patent foramen ovale 58 31 hallmark (90%) Very frequent (99-80%) HP:0001655
24 hypoplasia of the maxilla 58 31 hallmark (90%) Very frequent (99-80%) HP:0000327
25 dental crowding 58 31 hallmark (90%) Very frequent (99-80%) HP:0000678
26 asthma 58 31 hallmark (90%) Very frequent (99-80%) HP:0002099
27 epistaxis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000421
28 impulsivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0100710
29 aplasia/hypoplasia of the eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0100840
30 poor eye contact 58 31 hallmark (90%) Very frequent (99-80%) HP:0000817
31 upper eyelid edema 58 31 hallmark (90%) Very frequent (99-80%) HP:0012724
32 abnormality of central sensory function 58 31 hallmark (90%) Very frequent (99-80%) HP:0011730
33 short lingual frenulum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000200
34 stereotypical body rocking 58 31 hallmark (90%) Very frequent (99-80%) HP:0012172
35 delayed fine motor development 58 31 hallmark (90%) Very frequent (99-80%) HP:0010862
36 tip-toe gait 58 31 hallmark (90%) Very frequent (99-80%) HP:0030051
37 absent antihelix 58 31 hallmark (90%) Very frequent (99-80%) HP:0011234
38 clinodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0030084
39 self-biting 58 31 frequent (33%) Frequent (79-30%) HP:0012169
40 predominantly lower limb lymphedema 58 31 frequent (33%) Frequent (79-30%) HP:0003550
41 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
42 cafe-au-lait spot 58 31 occasional (7.5%) Occasional (29-5%) HP:0000957
43 autistic behavior 58 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:

40
Eye

Publications for Chromosome Xq28 Duplication Syndrome

Articles related to Chromosome Xq28 Duplication Syndrome:

(showing 5, show less)
# 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. 56
24357492 2014
2
Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions. 56
21984752 2011
3
The LCR at the IKBKG locus is prone to recombine. 56
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. 56
20004760 2009
5
X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation. 56
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

Cellular components related to Chromosome Xq28 Duplication Syndrome according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 intracellular GO:0005622 8.62 RAB39B CLIC2

Sources for Chromosome Xq28 Duplication Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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