MCID: DCX001
MIFTS: 11

Dcx-Related Disorders

Aliases & Classifications for Dcx-Related Disorders

MalaCards integrated aliases for Dcx-Related Disorders:

Name: Dcx-Related Disorders 24

Characteristics:

GeneReviews:

24
Penetrance Males...

Summaries for Dcx-Related Disorders

MalaCards based summary : Dcx-Related Disorders is related to lissencephaly, x-linked, 1 and band heterotopia. An important gene associated with Dcx-Related Disorders is DCX (Doublecortin). Affiliated tissues include brain, cortex and thalamus.

GeneReviews: NBK1185

Related Diseases for Dcx-Related Disorders

Diseases related to Dcx-Related Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lissencephaly, x-linked, 1 10.1
2 band heterotopia 10.1
3 alacrima, achalasia, and mental retardation syndrome 10.1
4 lissencephaly 10.1
5 scoliosis 10.1
6 cerebral palsy 10.1
7 neuronal migration disorders 10.1
8 seizure disorder 10.1
9 cerebral malformation 10.1

Graphical network of the top 20 diseases related to Dcx-Related Disorders:



Diseases related to Dcx-Related Disorders

Symptoms & Phenotypes for Dcx-Related Disorders

Drugs & Therapeutics for Dcx-Related Disorders

Search Clinical Trials , NIH Clinical Center for Dcx-Related Disorders

Genetic Tests for Dcx-Related Disorders

Anatomical Context for Dcx-Related Disorders

MalaCards organs/tissues related to Dcx-Related Disorders:

41
Brain, Cortex, Thalamus

Publications for Dcx-Related Disorders

Articles related to Dcx-Related Disorders:

(show top 50) (show all 51)
# Title Authors PMID Year
1
New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum. 38 4
23365099 2013
2
Lissencephaly: Expanded imaging and clinical classification. 4
28440899 2017
3
Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders. 4
28953922 2017
4
RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes. 4
27000652 2016
5
Stimulation of the bilateral anterior nuclei of the thalamus in the treatment of refractory epilepsy: two cases of subcortical band heterotopia. 4
27965181 2016
6
Different Doublecortin (DCX) Patient Alleles Show Distinct Phenotypes in Cultured Neurons: EVIDENCE FOR DIVERGENT LOSS-OF-FUNCTION AND "OFF-PATHWAY" CELLULAR MECHANISMS. 4
27799303 2016
7
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. 4
27773430 2016
8
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. 4
27240540 2016
9
A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies. 4
27292316 2016
10
Disorders of Microtubule Function in Neurons: Imaging Correlates. 4
26564436 2016
11
A critical and previously unsuspected role for doublecortin at the neuromuscular junction in mouse and human. 4
25817838 2015
12
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. 4
25560765 2015
13
Paternal transmission of subcortical band heterotopia through DCX somatic mosaicism. 4
25645638 2015
14
Somatic mutations in cerebral cortical malformations. 4
25140959 2014
15
The wide spectrum of tubulinopathies: what are the key features for the diagnosis? 4
24860126 2014
16
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 4
23603762 2013
17
Mosaic DCX deletion causes subcortical band heterotopia in males. 4
22833188 2012
18
Template-free 13-protofilament microtubule-MAP assembly visualized at 8 A resolution. 4
20974813 2010
19
Lissencephaly: mechanistic insights from animal models and potential therapeutic strategies. 4
20688183 2010
20
Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes. 4
20461390 2010
21
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. 4
20452996 2010
22
The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia. 4
20331703 2010
23
Array-CGH in unclear syndromic nephropathies identifies a microdeletion in Xq22.3-q23. 4
19444485 2009
24
Doublecortin associates with microtubules preferentially in regions of the axon displaying actin-rich protrusive structures. 4
19726658 2009
25
Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia. 4
19050731 2009
26
The location of DCX mutations predicts malformation severity in X-linked lissencephaly. 4
18685874 2008
27
Location and type of mutation in the LIS1 gene do not predict phenotypic severity. 4
17664403 2007
28
Distinct roles of doublecortin modulating the microtubule cytoskeleton. 4
16957770 2006
29
The evolving doublecortin (DCX) superfamily. 4
16869982 2006
30
Prenatal US and MR imaging findings of lissencephaly: review of fetal cerebral sulcal development. 4
16549605 2006
31
Genotypically defined lissencephalies show distinct pathologies. 4
16215456 2005
32
Neuronal migration disorders, genetics, and epileptogenesis. 4
15921228 2005
33
Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: the key questions answered. 4
15921231 2005
34
Mitotic impairment by doublecortin is diminished by doublecortin mutations found in patients. 4
15045646 2004
35
Different clinical and morphological phenotypes in monozygotic twins with identical DCX mutation. 4
14999500 2004
36
Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations. 4
12838518 2003
37
ARX mutations in X-linked lissencephaly with abnormal genitalia. 4
12874405 2003
38
Doublecortin functions at the extremities of growing neuronal processes. 4
12764037 2003
39
Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders. 4
12552055 2003
40
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. 4
12390976 2002
41
Surgical resection for intractable epilepsy in "double cortex" syndrome yields inadequate results. 4
11580758 2001
42
Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene. 4
11468322 2001
43
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. 4
11175293 2001
44
Patient mutations in doublecortin define a repeated tubulin-binding domain. 4
10946000 2000
45
Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes. 4
10915612 2000
46
Doublecortin mutations cluster in evolutionarily conserved functional domains. 4
10749977 2000
47
Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. 4
9989615 1999
48
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. 4
9817918 1998
49
A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome. 4
9489699 1998
50
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. 4
9489700 1998

Variations for Dcx-Related Disorders

Expression for Dcx-Related Disorders

Search GEO for disease gene expression data for Dcx-Related Disorders.

Pathways for Dcx-Related Disorders

GO Terms for Dcx-Related Disorders

Sources for Dcx-Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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