MCID: DDX004
MIFTS: 10

Ddx3x-Related Neurodevelopmental Disorder

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ddx3x-Related Neurodevelopmental Disorder

MalaCards integrated aliases for Ddx3x-Related Neurodevelopmental Disorder:

Name: Ddx3x-Related Neurodevelopmental Disorder 25

Classifications:



Summaries for Ddx3x-Related Neurodevelopmental Disorder

MalaCards based summary : Ddx3x-Related Neurodevelopmental Disorder is related to attention deficit-hyperactivity disorder and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Ddx3x-Related Neurodevelopmental Disorder is DDX3X (DEAD-Box Helicase 3 X-Linked). Affiliated tissues include brain.

GeneReviews: NBK561282

Related Diseases for Ddx3x-Related Neurodevelopmental Disorder

Diseases in the Pura-Related Neurodevelopmental Disorders family:

Chd2-Related Neurodevelopmental Disorders Ddx3x-Related Neurodevelopmental Disorder
Grin1-Related Neurodevelopmental Disorder Grin2b-Related Neurodevelopmental Disorder
Ppp2r5d-Related Neurodevelopmental Disorder

Diseases related to Ddx3x-Related Neurodevelopmental Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 attention deficit-hyperactivity disorder 10.1
2 alacrima, achalasia, and mental retardation syndrome 10.1
3 autism spectrum disorder 10.1
4 scoliosis 10.1
5 movement disease 10.1
6 precocious puberty 10.1
7 hypotonia 10.1
8 spasticity 10.1

Graphical network of the top 20 diseases related to Ddx3x-Related Neurodevelopmental Disorder:



Diseases related to Ddx3x-Related Neurodevelopmental Disorder

Symptoms & Phenotypes for Ddx3x-Related Neurodevelopmental Disorder

Drugs & Therapeutics for Ddx3x-Related Neurodevelopmental Disorder

Search Clinical Trials , NIH Clinical Center for Ddx3x-Related Neurodevelopmental Disorder

Genetic Tests for Ddx3x-Related Neurodevelopmental Disorder

Anatomical Context for Ddx3x-Related Neurodevelopmental Disorder

MalaCards organs/tissues related to Ddx3x-Related Neurodevelopmental Disorder:

40
Brain

Publications for Ddx3x-Related Neurodevelopmental Disorder

Articles related to Ddx3x-Related Neurodevelopmental Disorder:

(show all 28)
# Title Authors PMID Year
1
Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development. 25
32135084 2020
2
Expansion of phenotype of DDX3X syndrome: six new cases. 25
31274575 2019
3
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females. 25
30936465 2019
4
De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability. 25
30734472 2019
5
Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts. 25
30510006 2018
6
Phenotypic expansion in DDX3X - a common cause of intellectual disability in females. 25
30349862 2018
7
A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features. 25
29490693 2018
8
Context-Dependent and Disease-Specific Diversity in Protein Interactions within Stress Granules. 25
29373831 2018
9
DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome. 25
28371085 2017
10
Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern. 25
27159028 2016
11
Exome sequencing identifies somatic mutations of DDX3X in natural killer/T-cell lymphoma. 25
26192917 2015
12
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. 25
26235985 2015
13
Large-scale discovery of novel genetic causes of developmental disorders. 25
25533962 2015
14
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations. 25
24615390 2014
15
DDX3X regulates cell survival and cell cycle during mouse early embryonic development. 25
25050112 2014
16
The Ded1/DDX3 subfamily of DEAD-box RNA helicases. 25
25039764 2014
17
Dissecting the genomic complexity underlying medulloblastoma. 25
22832583 2012
18
Novel mutations target distinct subgroups of medulloblastoma. 25
22722829 2012
19
Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations. 25
22820256 2012
20
Siblings with phenotypic overlap with Toriello-Carey syndrome and complex cytogenetic imbalances including 3q29 microduplication and 6p25 microdeletion: Review of the literature and additional evidence for genetic heterogeneity. 25
21108391 2010
21
Toriello-Carey syndrome phenotype and chromosome anomalies. 25
18074373 2008
22
Candidate tumor suppressor DDX3 RNA helicase specifically represses cap-dependent translation by acting as an eIF4E inhibitory protein. 25
17667941 2008
23
Characterization of an RNA granule from developing brain. 25
16352523 2006
24
X-inactivation profile reveals extensive variability in X-linked gene expression in females. 25
15772666 2005
25
Kinesin transports RNA: isolation and characterization of an RNA-transporting granule. 25
15312650 2004
26
Toriello-Carey syndrome: delineation and review. 25
14556252 2003
27
Corpus callosum agenesis, facial anomalies, Robin sequence, and other anomalies: a new autosomal recessive syndrome? 25
3223497 1988
28
DDX3X-Related Neurodevelopmental Disorder 61
32852922 2020

Variations for Ddx3x-Related Neurodevelopmental Disorder

Expression for Ddx3x-Related Neurodevelopmental Disorder

Search GEO for disease gene expression data for Ddx3x-Related Neurodevelopmental Disorder.

Pathways for Ddx3x-Related Neurodevelopmental Disorder

GO Terms for Ddx3x-Related Neurodevelopmental Disorder

Sources for Ddx3x-Related Neurodevelopmental Disorder

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
Content
Loading form....