MCID: XQ2003
MIFTS: 19

Xq25 Duplication Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Xq25 Duplication Syndrome

MalaCards integrated aliases for Xq25 Duplication Syndrome:

Name: Xq25 Duplication Syndrome 58
Xq25 Microduplication Syndrome 60
Xq25 Microtriplication 60
Dup 60

Characteristics:

OMIM:

58
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:

33
xq25 duplication syndrome:
Inheritance x-linked inheritance


Classifications:



Summaries for Xq25 Duplication Syndrome

OMIM : 58 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)

MalaCards based summary : Xq25 Duplication Syndrome, is also known as xq25 microduplication syndrome. An important gene associated with Xq25 Duplication Syndrome is DUPXQ25 (Xq25 Duplication Syndrome). Affiliated tissues include brain, and related phenotypes are seizures and short stature

Related Diseases for Xq25 Duplication Syndrome

Symptoms & Phenotypes for Xq25 Duplication Syndrome

Human phenotypes related to Xq25 Duplication Syndrome:

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 seizures 33 occasional (7.5%) HP:0001250
2 short stature 33 occasional (7.5%) HP:0004322
3 cerebellar hypoplasia 33 occasional (7.5%) HP:0001321
4 hypoplasia of the corpus callosum 33 occasional (7.5%) HP:0002079
5 malar flattening 33 HP:0000272
6 intellectual disability 33 HP:0001249
7 sleep disturbance 33 HP:0002360
8 mandibular prognathia 33 HP:0000303
9 global developmental delay 33 HP:0001263
10 delayed speech and language development 33 HP:0000750
11 thick vermilion border 33 HP:0012471
12 thick eyebrow 33 HP:0000574
13 epicanthus 33 HP:0000286
14 anxiety 33 HP:0000739
15 highly arched eyebrow 33 HP:0002553
16 generalized hypotonia 33 HP:0001290
17 hyperactivity 33 HP:0000752
18 sparse eyebrow 33 HP:0045075
19 facial hypotonia 33 HP:0000297

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Face:
malar flattening
facial hypotonia
prognathia

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

Head And Neck Mouth:
full lips
thick vermilion

Neurologic Behavioral Psychiatric Manifestations:
anxiety
hyperactivity
autistic features
aggressive behaviors

Muscle Soft Tissue:
hypotonia

Growth Height:
short stature (in some patients)

Clinical features from OMIM:

300979

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

MalaCards organs/tissues related to Xq25 Duplication Syndrome:

42
Brain

Publications for Xq25 Duplication Syndrome

Articles related to Xq25 Duplication Syndrome:

# Title Authors Year
1
Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome. ( 24733578 )
2014

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
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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