LISX1
MCID: LSS036
MIFTS: 48

Lissencephaly, X-Linked, 1 (LISX1)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Lissencephaly, X-Linked, 1

MalaCards integrated aliases for Lissencephaly, X-Linked, 1:

Name: Lissencephaly, X-Linked, 1 57
Lissencephaly Type 1 Due to Doublecortin Gene Mutation 11 58 28 5
Lissencephaly, X-Linked 57 12 53
Xlis 57 19 73
Lissencephaly and Agenesis of Corpus Callosum 57 19
Subcortical Laminal Heterotopia, X-Linked 57 28
X-Linked Lissencephaly 1 11 14
X-Linked Lissencephaly 19 71
Double Cortex 73 71
Lisx1 57 73
Subcortical Band Heterotopia X-Linked 73
Subcortical Laminar Heterotopia 73
Lissencephaly, X-Linked, Type 1 38
X-Linked Lissencephaly Type 1 58
Subcortical Band Heterotopia 71
Lissencephaly, X-Linked 1 73
Lissencephaly X-Linked 19
Xlis1 11
Lisx 19
Sclh 73
Sbhx 73

Characteristics:


Inheritance:

Lissencephaly, X-Linked, 1: X-linked 57
Lissencephaly Type 1 Due to Doublecortin Gene Mutation: X-linked recessive 58

Age Of Onset:

Lissencephaly Type 1 Due to Doublecortin Gene Mutation: Adolescent,Childhood,Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy
incomplete penetrance
highly variable phenotype in females
somatic or germline mosaicism may occur


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Lissencephaly, X-Linked, 1

OMIM®: 57 Lissencephaly ('smooth brain') results from migrational arrest of cortical neurons short of their normal destination, and can result in profound mental retardation and seizures. In X-linked lissencephaly-1, affected males generally have more a severe phenotype compared to females. DCX mutations cause classic lissencephaly with mental retardation in hemizygous males and a milder phenotype known as subcortical band heterotopia in females, sometimes in the same family. The subcortical lamina heterotopia found in heterozygous females is also referred to as 'double cortex' (DC) syndrome (des Portes et al., 1997). There are several X-linked loci that affect neuronal migration, including the Aicardi locus (304050). (300067) (Updated 08-Dec-2022)

MalaCards based summary: Lissencephaly, X-Linked, 1, also known as lissencephaly type 1 due to doublecortin gene mutation, is related to lissencephaly, x-linked, 2 and lissencephaly 1, and has symptoms including ataxia and seizures. An important gene associated with Lissencephaly, X-Linked, 1 is DCX (Doublecortin), and among its related pathways/superpathways is Lissencephaly gene (LIS1) in neuronal migration and development. Affiliated tissues include cortex, brain and caudate nucleus, and related phenotypes are cognitive impairment and language impairment

UniProtKB/Swiss-Prot 73 Lissencephaly, x-linked 1: A classic lissencephaly characterized by intellectual disability and seizures that are more severe in male patients. Affected boys show an abnormally thick cortex with absent or severely reduced gyri. Clinical manifestations include feeding problems, abnormal muscular tone, seizures and severe to profound psychomotor retardation. Female patients display a less severe phenotype referred to as 'doublecortex'.

Subcortical band heterotopia x-linked: SBHX is a mild brain malformation of the lissencephaly spectrum. It is characterized by bilateral and symmetric plates or bands of gray matter found in the central white matter between the cortex and cerebral ventricles, cerebral convolutions usually appearing normal.

Orphanet: 58 Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients.

Disease Ontology: 11 A lissencephaly characterized by classic lissencephaly and intellectual disability in males that has material basis in mutation in DCX on chromosome Xq23.

Related Diseases for Lissencephaly, X-Linked, 1

Diseases in the Lissencephaly, X-Linked, 2 family:

Lissencephaly, X-Linked, 1

Diseases related to Lissencephaly, X-Linked, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 lissencephaly, x-linked, 2 32.3 PAFAH1B1 ARX
2 lissencephaly 1 30.3 PAFAH1B1 DCX
3 lissencephaly 30.0 PAFAH1B1 DCX ARX
4 band heterotopia 29.9 PAFAH1B1 DCX ARX
5 miller-dieker lissencephaly syndrome 29.9 PAFAH1B1 DCX ARX
6 periventricular nodular heterotopia 29.1 PAFAH1B1 DCX DCAF8
7 chromosome xq26.3 duplication syndrome 11.2
8 corpus callosum, agenesis of 10.5
9 diarrhea 10.3
10 turner syndrome 10.3
11 microcephaly 10.2
12 intellectual developmental disorder, x-linked 29 10.1
13 west syndrome 10.1
14 hypokalemia 10.1
15 periventricular nodular heterotopia 1 10.1
16 visual epilepsy 10.1
17 status epilepticus 10.1
18 lennox-gastaut syndrome 10.0
19 hypophosphatasia, adult 10.0
20 cryptorchidism, unilateral or bilateral 10.0
21 pseudovaginal perineoscrotal hypospadias 10.0
22 corpus callosum, agenesis of, with abnormal genitalia 10.0
23 developmental and epileptic encephalopathy 1 10.0
24 secretory diarrhea 10.0
25 lactose intolerance 10.0
26 fanconi syndrome 10.0
27 megacolon 10.0
28 exocrine pancreatic insufficiency 10.0
29 hypophosphatasia 10.0
30 hypothyroidism 10.0
31 epilepsy 10.0
32 hypogonadism 10.0
33 hyperinsulinism 10.0
34 hypoglycemia 10.0
35 penis agenesis 10.0
36 cerebral atrophy 10.0
37 hypotonia 10.0
38 myoclonus 10.0
39 lissencephaly 10 10.0 PAFAH1B1 DCX
40 myoma 9.9
41 lissencephaly 7 with cerebellar hypoplasia 9.9 PAFAH1B1 DCX
42 tubulinopathy 9.9
43 dcx-related disorders 9.9
44 pafah1b1-related lissencephaly/subcortical band heterotopia 9.9
45 neuronal migration disorders 9.9
46 chromosome 17p13.3, centromeric, duplication syndrome 9.9 PAFAH1B1 DCX
47 hydrocephalus 9.9
48 focal epilepsy 9.9
49 syndromic x-linked intellectual disability 9.8 DCAF8 ARX
50 cerebellar hypoplasia 9.7 PAFAH1B1 DCX ARX

Graphical network of the top 20 diseases related to Lissencephaly, X-Linked, 1:



Diseases related to Lissencephaly, X-Linked, 1

Symptoms & Phenotypes for Lissencephaly, X-Linked, 1

Human phenotypes related to Lissencephaly, X-Linked, 1:

58 30 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cognitive impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100543
2 language impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002463
3 flexion contracture 58 30 Frequent (33%) Frequent (79-30%)
HP:0001371
4 cerebral palsy 58 30 Frequent (33%) Frequent (79-30%)
HP:0100021
5 pachygyria 58 30 Frequent (33%) Frequent (79-30%)
HP:0001302
6 infantile spasms 58 30 Frequent (33%) Frequent (79-30%)
HP:0012469
7 generalized-onset seizure 58 30 Frequent (33%) Frequent (79-30%)
HP:0002197
8 abnormal muscle tone 58 30 Frequent (33%) Frequent (79-30%)
HP:0003808
9 poor gross motor coordination 58 30 Frequent (33%) Frequent (79-30%)
HP:0007015
10 akinetic mutism 58 30 Frequent (33%) Frequent (79-30%)
HP:0012672
11 agyria 58 30 Frequent (33%) Frequent (79-30%)
HP:0031882
12 focal-onset seizure 30 Frequent (33%) HP:0007359
13 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
14 dysphagia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002015
15 feeding difficulties in infancy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008872
16 irritability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000737
17 autistic behavior 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000729
18 hypoplasia of the corpus callosum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002079
19 aspiration 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002835
20 hypsarrhythmia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002521
21 cerebral white matter atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012762
22 epileptic encephalopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0200134
23 agitation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000713
24 delayed myelination 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012448
25 abnormal caudate nucleus morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002339
26 secondary microcephaly 30 Occasional (7.5%) HP:0005484
27 lateral ventricle dilatation 30 Occasional (7.5%) HP:0006956
28 dilation of virchow-robin spaces 30 Occasional (7.5%) HP:0012520
29 seizure 58 30 Very frequent (99-80%)
HP:0001250
30 intellectual disability 30 HP:0001249
31 spasticity 30 HP:0001257
32 agenesis of corpus callosum 30 HP:0001274
33 nystagmus 30 HP:0000639
34 ataxia 30 HP:0001251
35 dysarthria 30 HP:0001260
36 behavioral abnormality 58 Very frequent (99-80%)
37 postnatal growth retardation 30 HP:0008897
38 motor delay 30 HP:0001270
39 micropenis 30 HP:0000054
40 gray matter heterotopia 30 HP:0002282
41 postnatal microcephaly 58 Occasional (29-5%)
42 perivascular spaces 58 Occasional (29-5%)
43 dilation of lateral ventricles 58 Occasional (29-5%)
44 focal seizures, afebril 58 Frequent (79-30%)
45 axial hypotonia 30 HP:0008936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
nystagmus

Neurologic Central Nervous System:
ataxia
dysarthria
pachygyria
agyria
seizures
more

Clinical features from OMIM®:

300067 (Updated 08-Dec-2022)

UMLS symptoms related to Lissencephaly, X-Linked, 1:


ataxia; seizures

Drugs & Therapeutics for Lissencephaly, X-Linked, 1

Search Clinical Trials, NIH Clinical Center for Lissencephaly, X-Linked, 1

Genetic Tests for Lissencephaly, X-Linked, 1

Genetic tests related to Lissencephaly, X-Linked, 1:

# Genetic test Affiliating Genes
1 Lissencephaly Type 1 Due to Doublecortin Gene Mutation 28 DCX
2 Subcortical Laminal Heterotopia, X-Linked 28

Anatomical Context for Lissencephaly, X-Linked, 1

Organs/tissues related to Lissencephaly, X-Linked, 1:

MalaCards : Cortex, Brain, Caudate Nucleus, Globus Pallidus, Temporal Lobe, Bone, Fetal Brain
ODiseA: Brain

Publications for Lissencephaly, X-Linked, 1

Articles related to Lissencephaly, X-Linked, 1:

(show top 50) (show all 261)
# Title Authors PMID Year
1
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. 53 62 57 5
9489700 1998
2
Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders. 62 57 5
12552055 2003
3
A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome. 62 57 5
9489699 1998
4
Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain. 53 62 57
9097958 1997
5
Somatic mutations in cerebral cortical malformations. 62 57
25140959 2014
6
The location of DCX mutations predicts malformation severity in X-linked lissencephaly. 62 5
18685874 2008
7
RNAi reveals doublecortin is required for radial migration in rat neocortex. 62 57
14625554 2003
8
Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes. 62 57
10915612 2000
9
Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. 62 57
10430413 1999
10
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. 62 57
9817918 1998
11
Familial neuronal migration disorder: subcortical laminar heterotopia in a mother and pachygyria in the son. 62 57
9489790 1998
12
Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22. 62 57
9132485 1997
13
Stages and patterns of centrifugal arrest of diffuse neuronal migration disorders. 62 57
8335148 1993
14
Diffuse cortical dysplasia, or the 'double cortex' syndrome: the clinical and epileptic spectrum in 10 patients. 62 57
1922811 1991
15
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability. 5
32238909 2020
16
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. 5
29671837 2018
17
Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 5
29706646 2018
18
Phenotypic and molecular characterization of a novel DCX deletion and a review of the literature. 57
19673952 2009
19
Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia. 57
19050731 2009
20
Mice lacking doublecortin and doublecortin-like kinase 2 display altered hippocampal neuronal maturation and spontaneous seizures. 57
19342486 2009
21
Dcx reexpression reduces subcortical band heterotopia and seizure threshold in an animal model of neuronal migration disorder. 57
19098909 2009
22
Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX. 57
12034802 2002
23
Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene. 5
11468322 2001
24
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. 57
11175293 2001
25
X-linked pachygyria and agenesis of the corpus callosum: evidence for an X chromosome lissencephaly locus. 57
8053659 1994
26
Periventricular heterotopia and epilepsy. 57
8290091 1994
27
Familial band heterotopias simulating tuberous sclerosis. 57
8327150 1993
28
Causal heterogeneity in isolated lissencephaly. 57
1620349 1992
29
Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice. 53 62
19605412 2009
30
[Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing]. 53 62
18808783 2008
31
Association between X-linked lissencephaly with ambiguous genitalia syndrome and lenticulostriate vasculopathy in neonate. 53 62
18412232 2008
32
A novel mutation of the ARX gene in a male with nonsyndromic mental retardation. 53 62
17641262 2007
33
[X-linked lissencephaly with absent corpus callosum and abnormal genitalia: a report of siblings followed from the prenatal period]. 53 62
17515135 2007
34
[Genetic and clinical aspects of lissencephaly]. 53 62
17571022 2007
35
Genetic malformations of cortical development. 53 62
16724181 2006
36
Site-specific dephosphorylation of doublecortin (DCX) by protein phosphatase 1 (PP1). 53 62
16530423 2006
37
Neurabin II mediates doublecortin-dephosphorylation on actin filaments. 53 62
16564023 2006
38
A novel missense mutation of doublecortin: mutation analysis of Korean patients with subcortical band heterotopia. 53 62
16100463 2005
39
Neuronal migration disorders, genetics, and epileptogenesis. 53 62
15921228 2005
40
Doublecortin association with actin filaments is regulated by neurabin II. 53 62
15632197 2005
41
Doublecortin interacts with the ubiquitin protease DFFRX, which associates with microtubules in neuronal processes. 53 62
15607950 2005
42
Doublecortin microtubule affinity is regulated by a balance of kinase and phosphatase activity at the leading edge of migrating neurons. 53 62
14741102 2004
43
The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes. 53 62
14631200 2003
44
Catalytic and regulatory domains of doublecortin kinase-1. 53 62
12590608 2003
45
A new activity of doublecortin in recognition of the phospho-FIGQY tyrosine in the cytoplasmic domain of neurofascin. 53 62
12223548 2002
46
Multiple transcripts generated by the DCAMKL gene are expressed in the rat hippocampus. 53 62
11597766 2001
47
DCX in PC12 cells: CREB-mediated transcription and neurite outgrowth. 53 62
11331616 2001
48
Potential mechanisms of mutations that affect neuronal migration in man and mouse. 53 62
10826984 2000
49
Genes that regulate neuronal migration in the cerebral cortex. 53 62
10515162 1999
50
Kainate-elicited seizures induce mRNA encoding a CaMK-related peptide: a putative modulator of kinase activity in rat hippocampus. 53 62
10213452 1999

Variations for Lissencephaly, X-Linked, 1

ClinVar genetic disease variations for Lissencephaly, X-Linked, 1:

5 (show all 33)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DCX NM_001195553.2(DCX):c.373T>C (p.Tyr125His) SNV Pathogenic
11599 rs104894781 GRCh37: X:110644550-110644550
GRCh38: X:111401322-111401322
2 DCX NM_001195553.2(DCX):c.176G>T (p.Arg59Leu) SNV Pathogenic
11601 rs122457137 GRCh37: X:110653451-110653451
GRCh38: X:111410223-111410223
3 DCX NM_001195553.2(DCX):c.608C>G (p.Thr203Arg) SNV Pathogenic
11602 rs104894782 GRCh37: X:110644315-110644315
GRCh38: X:111401087-111401087
4 DCX NM_001195553.2(DCX):c.139A>C (p.Ser47Arg) SNV Pathogenic
11603 rs104894783 GRCh37: X:110653488-110653488
GRCh38: X:111410260-111410260
5 DCX NM_001195553.2(DCX):c.211G>T (p.Ala71Ser) SNV Pathogenic
11610 rs104894786 GRCh37: X:110653416-110653416
GRCh38: X:111410188-111410188
6 DCX NM_001195553.2(DCX):c.478dup (p.Gln160fs) DUP Pathogenic
1210701 GRCh37: X:110644444-110644445
GRCh38: X:111401216-111401217
7 DCX NM_001195553.2(DCX):c.628del (p.Val210fs) DEL Pathogenic
1342885 GRCh37: X:110644295-110644295
GRCh38: X:111401067-111401067
8 DCX NM_001195553.2(DCX):c.266G>A (p.Arg89Gln) SNV Pathogenic
1685689 GRCh37: X:110653361-110653361
GRCh38: X:111410133-111410133
9 DCX NM_001195553.2(DCX):c.233G>T (p.Arg78Leu) SNV Pathogenic
158443 rs104894784 GRCh37: X:110653394-110653394
GRCh38: X:111410166-111410166
10 DCX NM_001195553.2(DCX):c.586C>T (p.Arg196Cys) SNV Pathogenic
158485 rs587783568 GRCh37: X:110644337-110644337
GRCh38: X:111401109-111401109
11 DCX NM_001195553.2(DCX):c.574C>T (p.Arg192Trp) SNV Pathogenic
11598 rs104894780 GRCh37: X:110644349-110644349
GRCh38: X:111401121-111401121
12 DCX NM_001195553.2(DCX):c.587G>A (p.Arg196His) SNV Pathogenic
11609 rs56030372 GRCh37: X:110644336-110644336
GRCh38: X:111401108-111401108
13 DCX NM_001195553.2(DCX):c.684_685del (p.Tyr229fs) MICROSAT Pathogenic
434900 rs1556401744 GRCh37: X:110644238-110644239
GRCh38: X:111401010-111401011
14 DCX NM_001195553.2(DCX):c.304C>A (p.Arg102Ser) SNV Pathogenic
1320092 GRCh37: X:110653323-110653323
GRCh38: X:111410095-111410095
15 DCX NM_001195553.2(DCX):c.544G>T (p.Val182Phe) SNV Pathogenic
434901 rs1556401951 GRCh37: X:110644379-110644379
GRCh38: X:111401151-111401151
16 DCX NM_001195553.2(DCX):c.211G>A (p.Ala71Thr) SNV Pathogenic
812172 rs104894786 GRCh37: X:110653416-110653416
GRCh38: X:111410188-111410188
17 DCX NM_001195553.2(DCX):c.226C>G (p.Arg76Gly) SNV Pathogenic
619981 rs587783534 GRCh37: X:110653401-110653401
GRCh38: X:111410173-111410173
18 DCX NM_001195553.2(DCX):c.814C>T (p.Arg272Ter) SNV Pathogenic
158509 rs587783590 GRCh37: X:110574264-110574264
GRCh38: X:111331036-111331036
19 DCX NM_001195553.2(DCX):c.184G>A (p.Asp62Asn) SNV Pathogenic/Likely Pathogenic
11597 rs104894779 GRCh37: X:110653443-110653443
GRCh38: X:111410215-111410215
20 DCX NM_001195553.2(DCX):c.298G>C (p.Gly100Arg) SNV Likely Pathogenic
1709795 GRCh37: X:110653329-110653329
GRCh38: X:111410101-111410101
21 DCX NM_001195553.2(DCX):c.788A>G (p.Asp263Gly) SNV Likely Pathogenic
1164037 GRCh37: X:110576299-110576299
GRCh38: X:111333071-111333071
22 DCX NM_001195553.2(DCX):c.478del (p.Gln160fs) DEL Likely Pathogenic
1285488 GRCh37: X:110644445-110644445
GRCh38: X:111401217-111401217
23 DCX NM_001195553.2(DCX):c.809-1G>A SNV Likely Pathogenic
158508 rs587783589 GRCh37: X:110574270-110574270
GRCh38: X:111331042-111331042
24 DCX NM_001195553.2(DCX):c.280A>G (p.Asn94Asp) SNV Likely Pathogenic
210828 rs797045512 GRCh37: X:110653347-110653347
GRCh38: X:111410119-111410119
25 DCX NM_001195553.2(DCX):c.548C>T (p.Thr183Ile) SNV Likely Pathogenic
1687178 GRCh37: X:110644375-110644375
GRCh38: X:111401147-111401147
26 DCX NM_001195553.2(DCX):c.-22-364C>T SNV Likely Pathogenic
495232 rs761786389 GRCh37: X:110654012-110654012
GRCh38: X:111410784-111410784
27 DCX NM_001195553.2(DCX):c.190T>A (p.Tyr64Asn) SNV Likely Pathogenic
438585 rs1556405129 GRCh37: X:110653437-110653437
GRCh38: X:111410209-111410209
28 DCX NM_001195553.2(DCX):c.665C>T (p.Thr222Ile) SNV Likely Pathogenic
800524 rs1603423268 GRCh37: X:110644258-110644258
GRCh38: X:111401030-111401030
29 DCX NM_001195553.2(DCX):c.808+1G>A SNV Likely Pathogenic
974564 rs1921403332 GRCh37: X:110576278-110576278
GRCh38: X:111333050-111333050
30 DCX NM_001195553.2(DCX):c.-22-387T>G SNV Uncertain Significance
1028842 rs1928648928 GRCh37: X:110654035-110654035
GRCh38: X:111410807-111410807
31 DCX NM_001195553.2(DCX):c.946+4588G>T SNV Uncertain Significance
1220546 GRCh37: X:110569544-110569544
GRCh38: X:111326316-111326316
32 DCX NM_001195553.2(DCX):c.557G>A (p.Arg186His) SNV Uncertain Significance
158477 rs587783563 GRCh37: X:110644366-110644366
GRCh38: X:111401138-111401138
33 DCX NM_001195553.2(DCX):c.832C>G (p.Pro278Ala) SNV Uncertain Significance
1705541 GRCh37: X:110574246-110574246
GRCh38: X:111331018-111331018

UniProtKB/Swiss-Prot genetic disease variations for Lissencephaly, X-Linked, 1:

73 (show all 42)
# Symbol AA change Variation ID SNP ID
1 DCX p.Leu43Ser VAR_007819 rs587783521
2 DCX p.Ser47Arg VAR_007820 rs104894783
3 DCX p.Arg59Leu VAR_007821 rs122457137
4 DCX p.Arg59His VAR_007822 rs122457137
5 DCX p.Asp62Asn VAR_007823 rs104894779
6 DCX p.Arg78Leu VAR_007824 rs104894784
7 DCX p.Asp86His VAR_007825
8 DCX p.Gly100Ala VAR_007826
9 DCX p.Arg102Ser VAR_007827
10 DCX p.Tyr125His VAR_007828 rs104894781
11 DCX p.Tyr125Asp VAR_007829
12 DCX p.Arg178Leu VAR_007830 rs587783559
13 DCX p.Arg186Cys VAR_007831 rs587783562
14 DCX p.Pro191Arg VAR_007832 rs587783566
15 DCX p.Arg192Trp VAR_007833 rs104894780
16 DCX p.Asn200Lys VAR_007834
17 DCX p.Thr203Arg VAR_007835 rs104894782
18 DCX p.Ile214Thr VAR_007836 rs587783574
19 DCX p.Thr222Ile VAR_007837
20 DCX p.Gly223Glu VAR_007838
21 DCX p.Val236Ile VAR_007839 rs1324159050
22 DCX p.Ile250Asn VAR_007840
23 DCX p.Ile250Thr VAR_007841
24 DCX p.Gly253Asp VAR_007842
25 DCX p.Arg89Gly VAR_010536 rs104894785
26 DCX p.Thr42Ile VAR_026022
27 DCX p.Lys50Asn VAR_026023 rs587783523
28 DCX p.Asn60Asp VAR_026024
29 DCX p.Gly67Glu VAR_026025
30 DCX p.Ala71Ser VAR_026026 rs104894786
31 DCX p.Leu97Arg VAR_026027 rs587783537
32 DCX p.Ile104Thr VAR_026028
33 DCX p.Arg178Cys VAR_026029 rs587783558
34 DCX p.Pro191Leu VAR_026030
35 DCX p.Arg196His VAR_026031 rs56030372
36 DCX p.Asn200Ile VAR_026033
37 DCX p.Thr203Ala VAR_026034 rs587783570
38 DCX p.Gly223Val VAR_026035
39 DCX p.Phe243Leu VAR_026036
40 DCX p.Ala251Ser VAR_026037 rs587783585
41 DCX p.Ala251Val VAR_026038
42 DCX p.Asp262Gly VAR_077482 rs398124557

Copy number variations for Lissencephaly, X-Linked, 1 from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 257508 X 103600000 116800000 Copy number DCX X-linked lissencephaly
2 261298 X 17100000 19200000 Copy number ARX X-linked lissencephaly
3 261366 X 18331857 18460326 Deletion CDKL5 X-linked lissencephaly
4 261706 X 24900000 37500000 Copy number ARX X-linked lissencephaly
5 266516 X 98200000 110500000 Copy number DCX X-linked lissencephaly

Expression for Lissencephaly, X-Linked, 1

Search GEO for disease gene expression data for Lissencephaly, X-Linked, 1.

Pathways for Lissencephaly, X-Linked, 1

Pathways related to Lissencephaly, X-Linked, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.07 PAFAH1B1 DCX

GO Terms for Lissencephaly, X-Linked, 1

Cellular components related to Lissencephaly, X-Linked, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule associated complex GO:0005875 8.92 PAFAH1B1 DCX

Biological processes related to Lissencephaly, X-Linked, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.72 PAFAH1B1 NKX2-6 DCX ARX
2 nervous system development GO:0007399 9.71 PAFAH1B1 DCX ARX
3 hippocampus development GO:0021766 9.54 PAFAH1B1 DCX
4 brain development GO:0007420 9.43 PAFAH1B1 DCX ARX
5 neuron migration GO:0001764 9.35 PAFAH1B1 DCX ARX
6 layer formation in cerebral cortex GO:0021819 9.33 PAFAH1B1 DCX
7 interneuron migration GO:1904936 8.8 PAFAH1B1 ARX

Sources for Lissencephaly, X-Linked, 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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