MCID: LSS002
MIFTS: 45

Lissencephaly malady

Genetic diseases, Neuronal diseases, Rare diseases, Fetal diseases categories

Aliases & Classifications for Lissencephaly

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Aliases & Descriptions for Lissencephaly:

Name: Lissencephaly 10 22 46 12 24 65 36


Classifications:



External Ids:

Disease Ontology10 DOID:0050453
ICD9CM29 742.2
MeSH36 D054082

Summaries for Lissencephaly

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NINDS:46 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 optic nerve hypoplasia and lissencephaly 1. An important gene associated with Lissencephaly is PAFAH1B1 (Platelet-Activating Factor Acetylhydrolase 1b, Regulatory Subunit 1 (45kDa)), and among its related pathways are Guidance Cues and Growth Cone Motility and Reelin Pathway (Cajal-Retzius cells). Affiliated tissues include brain, cortex and eye, and related mouse phenotypes are growth/size/body and behavior/neurological.

Disease Ontology:10 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:68 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
Lissencephaly Due to Tuba1a Mutation Lissencephaly Type 1 Due to Doublecortin Gene Mutation
Lissencephaly Due to Lis1 Mutation

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

(show top 50)    (show all 188)
idRelated DiseaseScoreTop Affiliating Genes
1optic nerve hypoplasia30.0DCX, PAFAH1B1
2lissencephaly 110.7
3x-linked lissencephaly with abnormal genitalia10.7
4lissencephaly with cerebellar hypoplasia10.6
5miller-dieker syndrome10.6
6lissencephaly 210.5
7miller-dieker lissencephaly syndrome10.5
8lissencephaly, x-linked10.5
9cerebellar hypoplasia10.5
10lissencephaly 410.5
11neuronitis10.5
12pachygyria10.5
13lissencephaly 310.4
14lissencephaly, x-linked 210.4
15subcortical band heterotopia10.4
16cobblestone lissencephaly10.4
17lissencephaly 510.4
18lissencephaly 6, with microcephaly10.4
19lissencephaly 7 with cerebellar hypoplasia10.3
20partial lissencephaly10.3
21cerebritis10.3
22muscular dystrophy10.3
23lis1-associated lissencephaly/subcortical band heterotopia10.3
24cobblestone lissencephaly without muscular or ocular involvement10.3
25schwannomatosis-210.3DCX, PAFAH1B1
26subcutaneous panniculitis-like t-cell lymphoma10.2DCX, PAFAH1B1
27schizophrenia10.2
28neu-laxova syndrome110.2
29microcephaly10.2
30isolated 17-linked lissencephaly10.2
31lissencephaly type 1 due to doublecortin gene mutation10.2
32lissencephaly due to lis1 mutation10.2
33hypertrichosis of eyelid10.2DCX, VLDLR
34tn polyagglutination syndrome, somatic10.2ARX, DCX, PAFAH1B1
35amyotrophic lateral sclerosis 1810.2DCX, PAFAH1B1, RELN
36pachyonychia congenita10.2DCX, PAFAH1B1, RELN
37baraitser-winter syndrome 110.1
38muscular dystrophy-dystroglycanopathy , type a, 110.1
39muscular dystrophy-dystroglycanopathy , type a, 1010.1
40holoprosencephaly10.1
41walker-warburg syndrome10.1
42lissencephaly, isolated10.1
43dcx-related lissencephaly10.1
44lissencephaly due to tuba1a mutation10.1
45isolated lissencephaly type 1 without known genetic defects10.1
46lissencephaly type 3 - familial fetal akinesia sequence10.1
47lissencephaly type 3 - metacarpal bone dysplasia10.1
48lissencephaly with cerebellar hypoplasia type f10.1
49lissencephaly with cerebellar hypoplasia type e10.1
50lissencephaly with cerebellar hypoplasia type b10.1

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 Lissencephaly22 24

Anatomical Context for Lissencephaly

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MalaCards organs/tissues related to Lissencephaly:

33
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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.6ARX, DCX, FKRP, FKTN, LRP8, PAFAH1B1
2MP:00053867.1ARX, CDK5, DCX, FKRP, FKTN, LRP8
3MP:00053897.1ARX, DCX, LRP8, PAFAH1B1, PAFAH1B2, PAFAH1B3
4MP:00107686.8ARX, CDK5, DCX, FKRP, FKTN, ISPD
5MP:00036315.8ARX, CDK5, DCX, FKRP, FKTN, ISPD
6MP:00053845.5ARX, FKRP, FKTN, ISPD, LRP8, NDE1

Publications for Lissencephaly

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Articles related to Lissencephaly:

(show top 50)    (show all 315)
idTitleAuthorsYear
1
Erratum to: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. (25609191)
2015
2
Prenatal imaging diagnosis of cobblestone lissencephaly associated with Walker Warburg syndrome based on a specific sonographic pattern. (26315758)
2015
3
Post-natal treatment by a blood-brain-barrier permeable calpain inhibitor, SNJ1945 rescued defective function in lissencephaly. (23390575)
2013
4
Cytoskeleton in action: lissencephaly, a neuronal migration disorder. (23495356)
2013
5
Rare genetic causes of lissencephaly may implicate microtubule-based transport in the pathogenesis of cortical dysplasias (22787614)
2012
6
Lissencephaly with bilateral complete cleft lip and palate: an early second-trimester diagnosis. (22215777)
2012
7
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
8
Ventriculomegaly, intrauterine growth restriction, and congenital heart defects as salient prenatal sonographic findings of Miller-Dieker lissencephaly syndrome associated with monosomy 17p (17p13.2 --> pter) in a fetus. (20466299)
2010
9
Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes. (20461390)
2010
10
Analysis of the hypothalamus in a case of X-linked lissencephaly with abnormal genitalia (XLAG). (18842366)
2009
11
Association between X-linked lissencephaly with ambiguous genitalia syndrome and lenticulostriate vasculopathy in neonate. (18412232)
2008
12
Lissencephaly type II. (18809028)
2008
13
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
14
Lissencephaly type I. (18809027)
2008
15
X-linked lissencephaly with absent corpus callosum and abnormal genitalia: a report of siblings followed from the prenatal period]. (17515135)
2007
16
The evolving MR imaging appearance of lissencephaly: a case report. (17367971)
2007
17
The cellular roles of the lissencephaly gene LIS1, and what they tell us about brain development. (16751177)
2006
18
Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly. (17101002)
2006
19
Expression of glutamate transporter subtypes during normal human corticogenesis and type II lissencephaly. (15804404)
2005
20
Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: the key questions answered. (15921231)
2005
21
Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. (12621583)
2003
22
The role of the lissencephaly protein Pac1 during nuclear migration in budding yeast. (12566428)
2003
23
ARX mutations in X-linked lissencephaly with abnormal genitalia. (12874405)
2003
24
Magnetic resonance imaging features of lissencephaly in 2 Lhasa Apsos. (12174995)
2002
25
Lissencephaly type III, stippled epiphyses and loose, thick skin: a new recessively inherited syndrome. (11170088)
2001
26
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. (10973257)
2000
27
99Tc-HmPAO SPECT in 13 patients with classic lissencephaly. (10788746)
2000
28
Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence. (10807542)
2000
29
Presenilin-1 deficiency leads to loss of Cajal-Retzius neurons and cortical dysplasia similar to human type 2 lissencephaly. (10421573)
1999
30
The unfolding story of two lissencephaly genes and brain development. (10966119)
1999
31
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly. (9989616)
1999
32
Analysis of lissencephaly-causing LIS1 mutations. (10583396)
1999
33
The lissencephaly gene product Lis1, a protein involved in neuronal migration, interacts with a nuclear movement protein, NudC. (9601647)
1998
34
Genomic organization of the murine Miller-Dieker/lissencephaly region: conservation of linkage with the human region. (9199935)
1997
35
A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. (9063734)
1997
36
Frequent intragenic polymorphism in the 3' untranslated region of the lissencephaly gene 1 (LIS-1). (9147889)
1996
37
Syndromes with lissencephaly. (8730288)
1996
38
Molecular analysis of the lissencephaly gene 1 (LIS-1) in medulloblastomas. (8804025)
1996
39
Lissencephaly gene product. Localization in the central nervous system and loss of immunoreactivity in Miller-Dieker syndrome. (7573359)
1995
40
X-linked pachygyria and agenesis of the corpus callosum: evidence for an X chromosome lissencephaly locus. (8053659)
1994
41
Clinical manifestations and evaluation of isolated lissencephaly. (8306352)
1993
42
Fetal type II lissencephaly: a case report. (8306355)
1993
43
LIS1-Associated Lissencephaly/Subcortical Band Heterotopia (20301752)
1993
44
EEG fast activities in lissencephaly. (2013519)
1991
45
Epidemiology of lissencephaly type I. (1745330)
1991
46
EEG in type I lissencephaly. (3371564)
1988
47
MR of lissencephaly. (3135729)
1988
48
Ocular malformations and lissencephaly. (3119342)
1987
49
Agyria (lissencephaly) with anomalous pyramidal crossing. Case report and review of literature. (4031949)
1985
50
A spectrum of gyral anomalies in Miller-Dieker (lissencephaly) syndrome. (6834190)
1983

Variations for Lissencephaly

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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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Pathways related to Lissencephaly according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.8CDK5, LRP8, RELN, VLDLR
28.8CDK5, LRP8, RELN, VLDLR
38.6CDK5, LRP8, PAFAH1B1, RELN, VLDLR
46.2CDK5, DCX, LRP8, NUDC, PAFAH1B1, PAFAH1B2

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:000587110.1NDE1, PAFAH1B1, YWHAE
2microtubule associated complexGO:000587510.0DCX, LRP8, PAFAH1B1
3dendriteGO:00304259.6CDK5, DCX, LRP8, RELN
4microtubuleGO:00058749.3DCX, NDE1, NUDC, TUBA1A
5axonGO:00304249.1CDK5, LRP8, PAFAH1B1, YWHAE
6cytosolGO:00058297.1CDK5, DCX, NDE1, NUDC, PAFAH1B1, PAFAH1B2

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

(show all 33)
idNameGO IDScoreTop Affiliating Genes
1cerebral cortex tangential migrationGO:002180010.6ARX, RELN
2microtubule organizing center organizationGO:003102310.6NDE1, PAFAH1B1
3vesicle transport along microtubuleGO:004749610.6NDE1, PAFAH1B1
4axon extensionGO:004867510.6CDK5, DCX
5negative regulation of JNK cascadeGO:004632910.5FKTN, PAFAH1B1
6protein localization to synapseGO:003541810.5CDK5, RELN
7establishment of mitotic spindle orientationGO:000013210.5NDE1, PAFAH1B1
8neuroblast proliferationGO:000740510.4NDE1, PAFAH1B1
9associative learningGO:000830610.4CDK5, RELN
10ventral spinal cord developmentGO:002151710.3RELN, VLDLR
11modulation of synaptic transmissionGO:005080410.2LRP8, RELN
12positive regulation of CREB transcription factor activityGO:003279310.1LRP8, RELN
13positive regulation of protein tyrosine kinase activityGO:006109810.1LRP8, RELN
14positive regulation of dendritic spine morphogenesisGO:006100310.0LRP8, PAFAH1B1, RELN
15dendrite morphogenesisGO:00488139.8CDK5, DCX, VLDLR
16positive regulation of dendrite developmentGO:19000069.8LRP8, VLDLR
17G2/M transition of mitotic cell cycleGO:00000869.8NDE1, PAFAH1B1, TUBA1A, YWHAE
18forebrain developmentGO:00309009.8ARX, CDK5, NDE1, RELN
19protein O-linked mannosylationGO:00352699.8FKRP, FKTN, ISPD, TMEM5
20organelle organizationGO:00069969.7NDE1, PAFAH1B1, TUBA1A, YWHAE
21layer formation in cerebral cortexGO:00218199.7CDK5, LRP8, PAFAH1B1, RELN
22reelin-mediated signaling pathwayGO:00380269.7LRP8, RELN, VLDLR
23cell divisionGO:00513019.6CDK5, NDE1, NUDC, TUBA1A
24cell migrationGO:00164779.5CDK5, NDE1, PAFAH1B1, RELN
25lipid catabolic processGO:00160429.3PAFAH1B1, PAFAH1B2, PAFAH1B3
26positive regulation of protein kinase activityGO:00458609.3CDK5, LRP8, RELN, VLDLR
27mitotic cell cycleGO:00002789.2NDE1, NUDC, PAFAH1B1, TUBA1A, YWHAE
28hippocampus developmentGO:00217669.1CDK5, LRP8, PAFAH1B1, RELN, YWHAE
29axon guidanceGO:00074119.0ARX, CDK5, DCX, ISPD, RELN
30neuron migrationGO:00017649.0ARX, CDK5, DCX, NDE1, PAFAH1B1, RELN
31nervous system developmentGO:00073998.8DCX, FKTN, PAFAH1B3, VLDLR
32brain developmentGO:00074208.5DCX, PAFAH1B1, PAFAH1B2, PAFAH1B3, RELN
33cerebral cortex developmentGO:00219878.0CDK5, LRP8, NDE1, PAFAH1B1, RELN, VLDLR

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

idNameGO IDScoreTop Affiliating Genes
1reelin receptor activityGO:00380259.3LRP8, VLDLR
2very-low-density lipoprotein particle receptor activityGO:00302299.2LRP8, VLDLR
31-alkyl-2-acetylglycerophosphocholine esterase activityGO:00038479.2PAFAH1B2, PAFAH1B3
4platelet-activating factor acetyltransferase activityGO:00471799.1PAFAH1B2, PAFAH1B3
5apolipoprotein bindingGO:00341859.0LRP8, VLDLR

Sources for Lissencephaly

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet