MCID: CHR369
MIFTS: 21

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 clinodactyly and high palate

Description from OMIM: 300815

Related Diseases for Chromosome Xq28 Duplication Syndrome

Symptoms & Phenotypes for Chromosome Xq28 Duplication Syndrome

Clinical features from OMIM:

300815

Human phenotypes related to Chromosome Xq28 Duplication Syndrome:

59 32 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 clinodactyly 59 32 frequent (33%) Frequent (79-30%) HP:0030084
2 high palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000218
3 depressivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000716
4 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
5 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
6 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
7 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
8 microtia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008551
9 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
10 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
11 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
12 generalized muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003324
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 open mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000194
24 broad nasal tip 59 32 hallmark (90%) Very frequent (99-80%) HP:0000455
25 asthma 59 32 hallmark (90%) Very frequent (99-80%) HP:0002099
26 epistaxis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000421
27 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
28 aplasia/hypoplasia of the eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0100840
29 impulsivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0100710
30 cafe-au-lait spot 59 32 occasional (7.5%) Occasional (29-5%) HP:0000957
31 abnormality of central sensory function 59 32 hallmark (90%) Very frequent (99-80%) HP:0011730
32 self-biting 59 32 frequent (33%) Frequent (79-30%) HP:0012169
33 patent foramen ovale 59 32 hallmark (90%) Very frequent (99-80%) HP:0001655
34 upper eyelid edema 59 32 hallmark (90%) Very frequent (99-80%) HP:0012724
35 short lingual frenulum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000200
36 predominantly lower limb lymphedema 59 32 frequent (33%) Frequent (79-30%) HP:0003550
37 delayed fine motor development 59 32 hallmark (90%) Very frequent (99-80%) HP:0010862
38 tip-toe gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0030051
39 poor eye contact 59 32 hallmark (90%) Very frequent (99-80%) HP:0000817
40 neonatal hyperbilirubinemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003265
41 absent antihelix 59 32 hallmark (90%) Very frequent (99-80%) HP:0011234
42 stereotypical body rocking 59 32 hallmark (90%) Very frequent (99-80%) HP:0012172
43 autistic behavior 59 Very frequent (99-80%)

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

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 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
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
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
Content
Loading form....