MCID: LSS002
MIFTS: 48

Lissencephaly malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Cardiovascular diseases, Skin diseases, Fetal diseases, Muscle diseases

Aliases & Classifications for Lissencephaly

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Summaries for Lissencephaly

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NINDS:47 Lissencephaly, which literally means "smooth brain," is a rare, gene-linked brain malformation characterized by the absence of normal convolutions (folds) in the cerebral cortex and an abnormally small head (microcephaly). In the usual condition of lissencephaly, children usually have a normal sized head at birth.

MalaCards based summary: Lissencephaly is related to lissencephaly 1 and miller-dieker lissencephaly syndrome. An important gene associated with Lissencephaly is PAFAH1B1 (Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1), and among its related pathways are Reelin Pathway (Cajal-Retzius cells) and Guidance Cues and Growth Cone Motility. Affiliated tissues include brain, cortex and eye, and related mouse phenotypes are behavior/neurological and growth/size/body region.

Disease Ontology:11 A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused by defective neuronal migration during the 12th to 24th weeks of gestation.

Wikipedia:69 Lissencephaly, which literally means smooth brain, is a rare brain formation disorder caused by... more...

Related Diseases for Lissencephaly

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Diseases in the Lissencephaly family:

Lissencephaly 2 Lissencephaly 5
Lissencephaly 3 Lissencephaly 4
Lissencephaly 1 Dcx-Related Lissencephaly

Diseases related to Lissencephaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 132)
idRelated DiseaseScoreTop Affiliating Genes
1lissencephaly 112.3
2miller-dieker lissencephaly syndrome12.3
3x-linked lissencephaly with abnormal genitalia12.3
4lissencephaly 212.2
5lissencephaly with cerebellar hypoplasia12.2
6lissencephaly, x-linked12.1
7isolated 17-linked lissencephaly12.1
8lissencephaly 512.1
9lissencephaly 412.1
10lissencephaly, x-linked 212.1
11lissencephaly 312.1
12lis1-associated lissencephaly/subcortical band heterotopia12.0
13lissencephaly 6, with microcephaly12.0
14lissencephaly 7 with cerebellar hypoplasia12.0
15cobblestone lissencephaly12.0
16partial lissencephaly11.8
17lissencephaly type iii and bone dysplasia11.8
18lissencephaly, isolated11.7
19dcx-related lissencephaly11.7
20isolated lissencephaly type 1 without known genetic defects11.7
21lissencephaly type 3-familial fetal akinesia sequence syndrome11.7
22lissencephaly with cerebellar hypoplasia type f11.7
23lissencephaly with cerebellar hypoplasia type e11.7
24lissencephaly with cerebellar hypoplasia type b11.7
25lissencephaly with cerebellar hypoplasia type a11.7
26lissencephaly with cerebellar hypoplasia type d11.7
27lissencephaly with cerebellar hypoplasia type c11.7
28microlissencephaly i10.9
29chromosome 17p13.1 deletion syndrome10.8
30dcx-related disorders10.8
31massa casaer ceulemans syndrome10.8
32dfnx1 nonsyndromic hearing loss and deafness10.7DCX, PAFAH1B1
33pachygyria10.7
34epilepsy, familial temporal lobe, 710.6PAFAH1B1, RELN
35premature ovarian failure 810.6PAFAH1B1, RELN
36noonan syndrome 1010.5DCX, PAFAH1B1
37retinitis pigmentosa 1310.5DCX, PAFAH1B1, RELN
38mental retardation, x-linked, syndromic 1510.5ARX, DCX, PAFAH1B1
39antley-bixler syndrome10.4DCX, PAFAH1B1, TUBA1A
40dcma syndrome10.4DCX, PAFAH1B1
41coloboma, ocular10.4DCX, PAFAH1B1
42chromosome 17p13.3 duplication syndrome10.4PAFAH1B1, YWHAE
43walker-warburg syndrome10.3
44colpocephaly10.3
45neuronal migration disorders10.3
46cerebellar hypoplasia10.3
47subaortic stenosis, membranous10.3PAFAH1B1, YWHAE
48neuronitis10.3
49subcortical band heterotopia10.3
50chronic cholangitis10.2DCX, VLDLR

Graphical network of the top 20 diseases related to Lissencephaly:



Diseases related to lissencephaly

Symptoms for Lissencephaly

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Drugs & Therapeutics for Lissencephaly

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Human Epilepsy Genetics--Neuronal Migration Disorders StudyRecruitingNCT00041600
2Clinical-genetic Investigations in Children With Early Infantile EpilepsiesRecruitingNCT01357707
3Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402

Search NIH Clinical Center for Lissencephaly


Cochrane evidence based reviews: lissencephaly

Genetic Tests for Lissencephaly

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Genetic tests related to Lissencephaly:

id Genetic test Affiliating Genes
1 Lissencephaly25 23

Anatomical Context for Lissencephaly

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MalaCards organs/tissues related to Lissencephaly:

34
Brain, Cortex, Eye, Cerebellum, T cells, Hypothalamus, Testes

Animal Models for Lissencephaly or affiliated genes

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MGI Mouse Phenotypes related to Lissencephaly:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053866.7ARX, CDK5, DAG1, DCX, FKRP, FKTN
2MP:00053785.8ARX, DAG1, DCX, FKRP, FKTN, KATNB1
3MP:00053845.5ARX, DAG1, FKRP, FKTN, ISPD, KATNB1
4MP:00107685.3ARX, CDK5, DAG1, DCX, FKRP, FKTN
5MP:00036314.6ARX, CDK5, DAG1, DCX, FKRP, FKTN

Publications for Lissencephaly

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Articles related to Lissencephaly:

(show top 50)    (show all 325)
idTitleAuthorsYear
1
The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL): Report of two additional patients. (27480277)
2016
2
EP02.04: Prenatal ultrasound diagnosis of lissencephaly in the second trimester of gestation. (27644224)
2016
3
Prenatal imaging diagnosis of cobblestone lissencephaly associated with Walker Warburg syndrome based on a specific sonographic pattern. (26315758)
2015
4
Lissencephaly with subcortical band heterotopia in an Indian family. (24493317)
2014
5
Cytoskeleton in action: lissencephaly, a neuronal migration disorder. (23495356)
2013
6
Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation. (22633752)
2013
7
Rare genetic causes of lissencephaly may implicate microtubule-based transport in the pathogenesis of cortical dysplasias (22787614)
2012
8
OsLIS-L1 encoding a lissencephaly type-1-like protein with WD40 repeats is required for plant height and male gametophyte formation in rice. (22020753)
2012
9
Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary. (22408144)
2012
10
Functional analyses of lissencephaly-related proteins in Dictyostelium. (21034843)
2011
11
Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes. (20461390)
2010
12
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity. (19667223)
2009
13
Association between X-linked lissencephaly with ambiguous genitalia syndrome and lenticulostriate vasculopathy in neonate. (18412232)
2008
14
Lissencephaly type II. (18809028)
2008
15
Evidence for association between structural variants in lissencephaly-related genes and executive deficits in schizophrenia or bipolar patients from a Spanish isolate population. (19018238)
2008
16
Zic deficiency in the cortical marginal zone and meninges results in cortical lamination defects resembling those in type II lissencephaly. (18448648)
2008
17
Molecular mechanism of lissencephaly--how LIS1 and NDEL1 regulate cytoplasmic dynein?]. (18421979)
2008
18
Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation. (18384621)
2008
19
Lissencephaly variant of band heterotopia: PET peeves. (18021933)
2007
20
Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly. (17101002)
2006
21
Central and gonadal hypogonadism in X-linked lissencephaly. (16995578)
2006
22
Expression of glutamate transporter subtypes during normal human corticogenesis and type II lissencephaly. (15804404)
2005
23
Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: the key questions answered. (15921231)
2005
24
ARX mutations in X-linked lissencephaly with abnormal genitalia. (12874405)
2003
25
Lissencephaly type III, stippled epiphyses and loose, thick skin: a new recessively inherited syndrome. (11170088)
2001
26
Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. (11748497)
2001
27
A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration. (11734546)
2001
28
Presenilin-1 deficiency leads to loss of Cajal-Retzius neurons and cortical dysplasia similar to human type 2 lissencephaly. (10421573)
1999
29
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly. (9989616)
1999
30
Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. (10430413)
1999
31
The lissencephaly gene product Lis1, a protein involved in neuronal migration, interacts with a nuclear movement protein, NudC. (9601647)
1998
32
Lissencephaly associated with congenital hypomyelinating and axonal neuropathy. (9831005)
1998
33
Spatial and temporal development of the gliovascular tissue in type II lissencephaly. (9039465)
1997
34
Molecular analysis of the lissencephaly gene 1 (LIS-1) in medulloblastomas. (8804025)
1996
35
Lissencephaly gene product. Localization in the central nervous system and loss of immunoreactivity in Miller-Dieker syndrome. (7573359)
1995
36
Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected]. (8028668)
1994
37
X-linked pachygyria and agenesis of the corpus callosum: evidence for an X chromosome lissencephaly locus. (8053659)
1994
38
Clinical manifestations and evaluation of isolated lissencephaly. (8306352)
1993
39
Fetal type II lissencephaly: a case report. (8306355)
1993
40
LIS1-Associated Lissencephaly/Subcortical Band Heterotopia (20301752)
1993
41
Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. (7907669)
1993
42
Causal heterogeneity in isolated lissencephaly. (1620349)
1992
43
EEG fast activities in lissencephaly. (2013519)
1991
44
Lissencephaly with congenital muscular dystrophy and ocular abnormalities: cerebro-oculo-muscular syndrome. (2495176)
1989
45
EEG in type I lissencephaly. (3371564)
1988
46
MR of lissencephaly. (3135729)
1988
47
Lissencephaly: diagnosis by computed tomography and magnetic resonance imaging. (3383858)
1988
48
Agyria (lissencephaly) with anomalous pyramidal crossing. Case report and review of literature. (4031949)
1985
49
Further comments on the lissencephaly syndromes. (3901751)
1985
50
Lissencephaly. (175907)
1976

Variations for Lissencephaly

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Copy number variations for Lissencephaly from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
132413123650000066000000Copy numberTUBA1ALissencephaly
2225566747600000107200000Copy numberRELNLissencephaly

Expression for genes affiliated with Lissencephaly

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Search GEO for disease gene expression data for Lissencephaly.

Pathways for genes affiliated with Lissencephaly

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GO Terms for genes affiliated with Lissencephaly

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Cellular components related to Lissencephaly according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1kinesin complexGO:000587110.0NDE1, PAFAH1B1, YWHAE
2dystrophin-associated glycoprotein complexGO:00160109.9DAG1, FKRP
3microtubule associated complexGO:00058759.9DCX, LRP8, PAFAH1B1
4growth coneGO:00304269.3CDK5, KATNB1, PAFAH1B1
5dendriteGO:00304259.0CDK5, DCX, LRP8, RELN
6microtubuleGO:00058748.8DCX, KATNB1, NDE1, NUDC, TUBA1A
7neuronal cell bodyGO:00430258.6CDK5, KATNB1, LRP8, PAFAH1B1
8axonGO:00304247.9CDK5, KATNB1, LRP8, PAFAH1B1, YWHAE

Biological processes related to Lissencephaly according to GeneCards Suite gene sharing:

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1regulation of microtubule motor activityGO:200057410.6NDE1, PAFAH1B1
2cerebral cortex tangential migrationGO:002180010.6ARX, RELN
3establishment of mitotic spindle orientationGO:000013210.5NDE1, PAFAH1B1
4microtubule organizing center organizationGO:003102310.5NDE1, PAFAH1B1
5vesicle transport along microtubuleGO:004749610.5NDE1, PAFAH1B1
6neuroblast proliferationGO:000740510.5NDE1, PAFAH1B1
7negative regulation of JNK cascadeGO:004632910.4FKTN, PAFAH1B1
8axon extensionGO:004867510.4CDK5, DCX
9protein localization to synapseGO:003541810.3CDK5, RELN
10Schwann cell developmentGO:001404410.3CDK5, DAG1
11ventral spinal cord developmentGO:002151710.2RELN, VLDLR
12positive regulation of CREB transcription factor activityGO:003279310.1LRP8, RELN
13sister chromatid cohesionGO:000706210.0NDE1, NUDC, PAFAH1B1
14layer formation in cerebral cortexGO:002181910.0CDK5, DCX, PAFAH1B1, RELN
15positive regulation of dendritic spine morphogenesisGO:00610039.9LRP8, PAFAH1B1, RELN
16positive regulation of protein kinase activityGO:00458609.9CDK5, RELN, VLDLR
17positive regulation of protein tyrosine kinase activityGO:00610989.9LRP8, RELN
18positive regulation of dendrite developmentGO:19000069.8LRP8, VLDLR
19dendrite morphogenesisGO:00488139.7CDK5, DCX, VLDLR
20G2/M transition of mitotic cell cycleGO:00000869.6NDE1, PAFAH1B1, TUBA1A, YWHAE
21reelin-mediated signaling pathwayGO:00380269.6LRP8, RELN, VLDLR
22cell migrationGO:00164779.5CDK5, NDE1, PAFAH1B1, RELN
23hippocampus developmentGO:00217669.4CDK5, DCX, PAFAH1B1, RELN, YWHAE
24forebrain developmentGO:00309009.3ARX, CDK5, NDE1, RELN
25modulation of synaptic transmissionGO:00508049.3LRP8, RELN
26protein O-linked mannosylationGO:00352698.9FKRP, FKTN, ISPD, TMEM5
27cell divisionGO:00513018.9CDK5, KATNB1, NDE1, NUDC, TUBA1A
28neuron migrationGO:00017648.6ARX, CDK5, DCX, NDE1, PAFAH1B1, RELN
29cerebral cortex developmentGO:00219878.5CDK5, LRP8, NDE1, PAFAH1B1, RELN, VLDLR

Molecular functions related to Lissencephaly according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1transferase activityGO:00167409.9FKRP, FKTN
2reelin receptor activityGO:00380259.9LRP8, VLDLR
3very-low-density lipoprotein particle receptor activityGO:00302299.9LRP8, VLDLR
4apolipoprotein bindingGO:00341859.8LRP8, VLDLR
5low-density lipoprotein receptor activityGO:00050419.5LRP8, VLDLR
6dynein bindingGO:00455029.4KATNB1, PAFAH1B1
7microtubule bindingGO:00080179.0DCX, KATNB1, NDE1, PAFAH1B1

Sources for Lissencephaly

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet