DUP
MCID: XQ2003
MIFTS: 19

Xq25 Duplication Syndrome (DUP)

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Xq25 Duplication Syndrome

MalaCards integrated aliases for Xq25 Duplication Syndrome:

Name: Xq25 Duplication Syndrome 57
Xq25 Microduplication Syndrome 58
Xq25 Microtriplication 58
Dup 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked

Miscellaneous:
female carriers may have mild intellectual disabilities or learning disabilities
one patient with a triplication of xq25 and a more severe phenotype has been reported


HPO:

31
xq25 duplication syndrome:
Inheritance x-linked inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Xq25 Duplication Syndrome

OMIM® : 57 Xq25 duplication syndrome is an X-linked neurodevelopmental disorder characterized by delayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected (summary by Leroy et al., 2016). (300979) (Updated 05-Apr-2021)

MalaCards based summary : Xq25 Duplication Syndrome, also known as xq25 microduplication syndrome, is related to alacrima, achalasia, and mental retardation syndrome. An important gene associated with Xq25 Duplication Syndrome is DUPXQ25 (Xq25 Duplication Syndrome). Related phenotypes are sleep disturbance and global developmental delay

Related Diseases for Xq25 Duplication Syndrome

Diseases related to Xq25 Duplication Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.2

Symptoms & Phenotypes for Xq25 Duplication Syndrome

Human phenotypes related to Xq25 Duplication Syndrome:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sleep disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0002360
2 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
3 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
4 thick vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0012471
5 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
6 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
7 highly arched eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002553
8 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
9 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
10 cerebellar hypoplasia 58 31 occasional (7.5%) Frequent (79-30%) HP:0001321
11 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Frequent (79-30%) HP:0002079
12 sparse eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0045075
13 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
14 hyperactivity 58 31 frequent (33%) Frequent (79-30%) HP:0000752
15 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
16 facial hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0000297
17 speech articulation difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0009088
18 abnormality of the palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0008050
19 seizure 31 occasional (7.5%) HP:0001250
20 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
21 intellectual disability 31 HP:0001249
22 seizures 58 Frequent (79-30%)
23 delayed speech and language development 31 HP:0000750
24 thick eyebrow 31 HP:0000574

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Behavioral Psychiatric Manifestations:
anxiety
hyperactivity
autistic features
aggressive behaviors

Neurologic Central Nervous System:
sleep disturbances
seizures (in some patients)
delayed development
cerebellar hypoplasia (in some patients)
delayed speech
more
Head And Neck Eyes:
epicanthal folds
sparse eyebrows
arched eyebrows
heavy eyebrows
lower palpebral eversion

Head And Neck Mouth:
full lips
thick vermilion

Head And Neck Face:
malar flattening
facial hypotonia
prognathia

Muscle Soft Tissue:
hypotonia

Growth Height:
short stature (in some patients)

Clinical features from OMIM®:

300979 (Updated 05-Apr-2021)

Drugs & Therapeutics for Xq25 Duplication Syndrome

Search Clinical Trials , NIH Clinical Center for Xq25 Duplication Syndrome

Genetic Tests for Xq25 Duplication Syndrome

Anatomical Context for Xq25 Duplication Syndrome

Publications for Xq25 Duplication Syndrome

Articles related to Xq25 Duplication Syndrome:

# Title Authors PMID Year
1
Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy. 57
25677961 2016
2
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems. 57
26443594 2015
3
Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance. 57
23637084 2013
4
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. 57
16840569 2006
5
Genetic tests aid in counseling of fetuses with cerebellar vermis defects. 61
32386258 2020

Variations for Xq25 Duplication Syndrome

Expression for Xq25 Duplication Syndrome

Search GEO for disease gene expression data for Xq25 Duplication Syndrome.

Pathways for Xq25 Duplication Syndrome

GO Terms for Xq25 Duplication Syndrome

Sources for Xq25 Duplication Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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