MCID: CHR369
MIFTS: 20

Chromosome Xq28 Duplication Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Chromosome Xq28 Duplication Syndrome

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

Description 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:

60 33 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000218
2 depressivity 60 33 hallmark (90%) Very frequent (99-80%) HP:0000716
3 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
4 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
5 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
6 microtia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008551
7 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
8 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
9 arthralgia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002829
10 generalized muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0003324
11 thick lower lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000179
12 recurrent upper respiratory tract infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0002788
13 patent ductus arteriosus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001643
14 attention deficit hyperactivity disorder 60 33 hallmark (90%) Very frequent (99-80%) HP:0007018
15 metatarsus adductus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001840
16 anxiety 60 33 hallmark (90%) Very frequent (99-80%) HP:0000739
17 deeply set eye 60 33 hallmark (90%) Very frequent (99-80%) HP:0000490
18 hypoplasia of the maxilla 60 33 hallmark (90%) Very frequent (99-80%) HP:0000327
19 aggressive behavior 60 33 hallmark (90%) Very frequent (99-80%) HP:0000718
20 dental crowding 60 33 hallmark (90%) Very frequent (99-80%) HP:0000678
21 open mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000194
22 broad nasal tip 60 33 hallmark (90%) Very frequent (99-80%) HP:0000455
23 asthma 60 33 hallmark (90%) Very frequent (99-80%) HP:0002099
24 epistaxis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000421
25 high forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000348
26 aplasia/hypoplasia of the eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0100840
27 impulsivity 60 33 hallmark (90%) Very frequent (99-80%) HP:0100710
28 neonatal hyperbilirubinemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003265
29 patent foramen ovale 60 33 hallmark (90%) Very frequent (99-80%) HP:0001655
30 abnormality of central sensory function 60 33 hallmark (90%) Very frequent (99-80%) HP:0011730
31 upper eyelid edema 60 33 hallmark (90%) Very frequent (99-80%) HP:0012724
32 short lingual frenulum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000200
33 delayed fine motor development 60 33 hallmark (90%) Very frequent (99-80%) HP:0010862
34 tip-toe gait 60 33 hallmark (90%) Very frequent (99-80%) HP:0030051
35 poor eye contact 60 33 hallmark (90%) Very frequent (99-80%) HP:0000817
36 absent antihelix 60 33 hallmark (90%) Very frequent (99-80%) HP:0011234
37 stereotypical body rocking 60 33 hallmark (90%) Very frequent (99-80%) HP:0012172
38 clinodactyly 60 33 frequent (33%) Frequent (79-30%) HP:0030084
39 self-biting 60 33 frequent (33%) Frequent (79-30%) HP:0012169
40 predominantly lower limb lymphedema 60 33 frequent (33%) Frequent (79-30%) HP:0003550
41 hypothyroidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000821
42 cafe-au-lait spot 60 33 occasional (7.5%) Occasional (29-5%) HP:0000957
43 autistic behavior 60 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 30 CLIC2 RAB39B

Anatomical Context for Chromosome Xq28 Duplication Syndrome

MalaCards organs/tissues related to Chromosome Xq28 Duplication Syndrome:

42
Eye

Publications for Chromosome Xq28 Duplication Syndrome

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

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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