MCID: XQ2003
MIFTS: 14

Xq25 Duplication Syndrome

Aliases & Classifications for Xq25 Duplication Syndrome

MalaCards integrated aliases for Xq25 Duplication Syndrome:

Name: Xq25 Duplication Syndrome 57

Characteristics:

OMIM:

57
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:

32
xq25 duplication syndrome:
Inheritance x-linked inheritance


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)

MalaCards based summary : Xq25 Duplication Syndrome An important gene associated with Xq25 Duplication Syndrome is DUPXQ25 (Xq25 Duplication Syndrome). Affiliated tissues include brain, and related phenotypes are malar flattening and epicanthus

Related Diseases for Xq25 Duplication Syndrome

Symptoms & Phenotypes for Xq25 Duplication Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
malar flattening
facial hypotonia
prognathia

Muscle Soft Tissue:
hypotonia

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 Mouth:
full lips
thick vermilion

Neurologic Behavioral Psychiatric Manifestations:
anxiety
hyperactivity
autistic features
aggressive behaviors

Head And Neck Eyes:
epicanthal folds
sparse eyebrows
heavy eyebrows
arched eyebrows
lower palpebral eversion

Growth Height:
short stature (in some patients)


Clinical features from OMIM:

300979

Human phenotypes related to Xq25 Duplication Syndrome:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 epicanthus 32 HP:0000286
3 facial hypotonia 32 HP:0000297
4 mandibular prognathia 32 HP:0000303
5 thick eyebrow 32 HP:0000574
6 anxiety 32 HP:0000739
7 delayed speech and language development 32 HP:0000750
8 hyperactivity 32 HP:0000752
9 intellectual disability 32 HP:0001249
10 seizures 32 occasional (7.5%) HP:0001250
11 global developmental delay 32 HP:0001263
12 generalized hypotonia 32 HP:0001290
13 cerebellar hypoplasia 32 occasional (7.5%) HP:0001321
14 hypoplasia of the corpus callosum 32 occasional (7.5%) HP:0002079
15 sleep disturbance 32 HP:0002360
16 highly arched eyebrow 32 HP:0002553
17 short stature 32 occasional (7.5%) HP:0004322
18 thick vermilion border 32 HP:0012471
19 sparse eyebrow 32 HP:0045075

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:

41
Brain

Publications for Xq25 Duplication Syndrome

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 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
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