MCID: LSS002
MIFTS: 49

Lissencephaly malady

Categories: Genetic diseases, Rare diseases, Neuronal 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:48 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 COPI-independent Golgi-to-ER retrograde traffic and Reelin Pathway (Cajal-Retzius cells). Affiliated tissues include brain, cortex and eye, and related mouse phenotypes are behavior/neurological and reproductive system.

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:70 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 126)
idRelated DiseaseScoreTop Affiliating Genes
1lissencephaly 112.3
2miller-dieker lissencephaly syndrome12.3
3x-linked lissencephaly with abnormal genitalia12.2
4lissencephaly 212.2
5lissencephaly, x-linked12.1
6lissencephaly with cerebellar hypoplasia12.1
7lissencephaly, x-linked 212.1
8lissencephaly 412.1
9lissencephaly 512.1
10isolated 17-linked lissencephaly12.1
11lissencephaly 312.0
12lissencephaly 6, with microcephaly12.0
13lissencephaly 7 with cerebellar hypoplasia12.0
14lis1-associated lissencephaly/subcortical band heterotopia11.9
15cobblestone lissencephaly11.8
16lissencephaly type iii and bone dysplasia11.7
17dcx-related lissencephaly11.6
18isolated lissencephaly type 1 without known genetic defects11.6
19lissencephaly type 3-familial fetal akinesia sequence syndrome11.6
20lissencephaly with cerebellar hypoplasia type f11.6
21lissencephaly with cerebellar hypoplasia type e11.6
22lissencephaly with cerebellar hypoplasia type b11.6
23lissencephaly with cerebellar hypoplasia type a11.6
24lissencephaly with cerebellar hypoplasia type d11.6
25lissencephaly with cerebellar hypoplasia type c11.6
26band heterotopia11.1
27colpocephaly11.0
28neuronal migration disorders11.0
29microlissencephaly i10.8
30neu-laxova syndrome110.8
31baraitser-winter syndrome 110.8
32muscular dystrophy-dystroglycanopathy , type a, 110.8
33muscular dystrophy-dystroglycanopathy , type a, 1010.8
34chromosome 17p13.1 deletion syndrome10.7
35dcx-related disorders10.7
36congenital muscular alpha-dystroglycanopathy with brain and eye anomalies10.7
37massa casaer ceulemans syndrome10.7
38muscular dystrophy-dystroglycanopathy , type a, 310.6
39muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1110.6
40muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 810.6
41muscular dystrophy-dystroglycanopathy , type a, 910.6
42muscular dystrophy-dystroglycanopathy , type a, 710.6
43muscular dystrophy-dystroglycanopathy , type a, 1210.6
44neu-laxova syndrome 210.6
45muscular dystrophy-dystroglycanopathy , type a, 410.6
46muscular dystrophy-dystroglycanopathy , type a, 1310.6
47muscular dystrophy-dystroglycanopathy , type a, 210.6
48baraitser-winter syndrome 210.6
49microcephaly 2, primary, autosomal recessive, with or without cortical malformations10.6
50muscular dystrophy-dystroglycanopathy , type a, 510.6

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
1Clinical-genetic Investigations in Children With Early Infantile EpilepsiesUnknown statusNCT01357707
2Human Epilepsy Genetics--Neuronal Migration Disorders StudyRecruitingNCT00041600
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 Lissencephaly26 24

Anatomical Context for Lissencephaly

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MalaCards organs/tissues related to Lissencephaly:

35
Brain, Cortex, Eye, Cerebellum, T cells, Testes, Hypothalamus

Animal Models for Lissencephaly or affiliated genes

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MGI Mouse Phenotypes related to Lissencephaly:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.6ARX, CDK5, DAG1, DCX, FKRP, FKTN
2MP:00053897.2ARX, DCX, KATNB1, LRP8, PAFAH1B1, PAFAH1B2
3MP:00053787.0ARX, DAG1, DCX, FKRP, FKTN, KATNB1
4MP:00107686.5ARX, CDK5, DAG1, DCX, FKRP, FKTN
5MP:00053846.0ARX, DAG1, FKRP, FKTN, KATNB1, LRP8
6MP:00036316.0ARX, CDK5, DAG1, DCX, FKRP, FKTN

Publications for Lissencephaly

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Articles related to Lissencephaly:

(show top 49)    (show all 333)
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
Lissencephaly variant of band heterotopia: PET peeves. (18021933)
2007
19
Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly. (17101002)
2006
20
Central and gonadal hypogonadism in X-linked lissencephaly. (16995578)
2006
21
Expression of glutamate transporter subtypes during normal human corticogenesis and type II lissencephaly. (15804404)
2005
22
Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: the key questions answered. (15921231)
2005
23
ARX mutations in X-linked lissencephaly with abnormal genitalia. (12874405)
2003
24
Lissencephaly type III, stippled epiphyses and loose, thick skin: a new recessively inherited syndrome. (11170088)
2001
25
Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. (11748497)
2001
26
A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration. (11734546)
2001
27
Presenilin-1 deficiency leads to loss of Cajal-Retzius neurons and cortical dysplasia similar to human type 2 lissencephaly. (10421573)
1999
28
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly. (9989616)
1999
29
Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. (10430413)
1999
30
The lissencephaly gene product Lis1, a protein involved in neuronal migration, interacts with a nuclear movement protein, NudC. (9601647)
1998
31
Lissencephaly associated with congenital hypomyelinating and axonal neuropathy. (9831005)
1998
32
Spatial and temporal development of the gliovascular tissue in type II lissencephaly. (9039465)
1997
33
Molecular analysis of the lissencephaly gene 1 (LIS-1) in medulloblastomas. (8804025)
1996
34
Lissencephaly gene product. Localization in the central nervous system and loss of immunoreactivity in Miller-Dieker syndrome. (7573359)
1995
35
Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected]. (8028668)
1994
36
X-linked pachygyria and agenesis of the corpus callosum: evidence for an X chromosome lissencephaly locus. (8053659)
1994
37
Clinical manifestations and evaluation of isolated lissencephaly. (8306352)
1993
38
Fetal type II lissencephaly: a case report. (8306355)
1993
39
LIS1-Associated Lissencephaly/Subcortical Band Heterotopia (20301752)
1993
40
Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. (7907669)
1993
41
Causal heterogeneity in isolated lissencephaly. (1620349)
1992
42
EEG fast activities in lissencephaly. (2013519)
1991
43
Lissencephaly with congenital muscular dystrophy and ocular abnormalities: cerebro-oculo-muscular syndrome. (2495176)
1989
44
EEG in type I lissencephaly. (3371564)
1988
45
MR of lissencephaly. (3135729)
1988
46
Lissencephaly: diagnosis by computed tomography and magnetic resonance imaging. (3383858)
1988
47
Agyria (lissencephaly) with anomalous pyramidal crossing. Case report and review of literature. (4031949)
1985
48
Further comments on the lissencephaly syndromes. (3901751)
1985
49
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:000587110.1NDE1, PAFAH1B1, YWHAE
2microtubule associated complexGO:00058759.9DCX, LRP8, PAFAH1B1
3dystrophin-associated glycoprotein complexGO:00160109.8DAG1, FKRP
4growth coneGO:00304269.1CDK5, KATNB1, PAFAH1B1
5dendriteGO:00304258.8CDK5, DCX, LRP8, RELN
6neuronal cell bodyGO:00430258.7CDK5, KATNB1, LRP8, PAFAH1B1
7microtubuleGO:00058748.7DCX, KATNB1, NDE1, NUDC, TUBA1A
8axonGO:00304248.2CDK5, KATNB1, LRP8, PAFAH1B1, YWHAE

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

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1cerebral cortex tangential migrationGO:002180010.6ARX, RELN
2establishment of mitotic spindle orientationGO:000013210.6NDE1, PAFAH1B1
3regulation of microtubule motor activityGO:200057410.6NDE1, PAFAH1B1
4vesicle transport along microtubuleGO:004749610.5NDE1, PAFAH1B1
5microtubule organizing center organizationGO:003102310.5NDE1, PAFAH1B1
6neuroblast proliferationGO:000740510.5NDE1, PAFAH1B1
7negative regulation of JNK cascadeGO:004632910.4FKTN, PAFAH1B1
8axon extensionGO:004867510.4CDK5, DCX
9ventral spinal cord developmentGO:002151710.3RELN, VLDLR
10protein localization to synapseGO:003541810.3CDK5, RELN
11Schwann cell developmentGO:001404410.2CDK5, DAG1
12positive regulation of CREB transcription factor activityGO:003279310.1LRP8, RELN
13sister chromatid cohesionGO:000706210.1NDE1, NUDC, PAFAH1B1
14positive regulation of protein kinase activityGO:004586010.0CDK5, RELN, VLDLR
15dendrite morphogenesisGO:004881310.0CDK5, DCX, VLDLR
16positive regulation of dendrite developmentGO:19000069.9LRP8, VLDLR
17layer formation in cerebral cortexGO:00218199.9CDK5, DCX, PAFAH1B1, RELN
18positive regulation of dendritic spine morphogenesisGO:00610039.9LRP8, PAFAH1B1, RELN
19positive regulation of protein tyrosine kinase activityGO:00610989.8LRP8, RELN
20cell migrationGO:00164779.8CDK5, NDE1, PAFAH1B1, RELN
21reelin-mediated signaling pathwayGO:00380269.7LRP8, RELN, VLDLR
22G2/M transition of mitotic cell cycleGO:00000869.7NDE1, PAFAH1B1, TUBA1A, YWHAE
23modulation of synaptic transmissionGO:00508049.6LRP8, RELN
24protein O-linked mannosylationGO:00352699.5FKRP, FKTN, TMEM5
25brain developmentGO:00074209.3DCX, PAFAH1B1, PAFAH1B2, RELN
26forebrain developmentGO:00309009.1ARX, CDK5, NDE1, RELN
27hippocampus developmentGO:00217669.1CDK5, DCX, PAFAH1B1, RELN, YWHAE
28cell divisionGO:00513018.8CDK5, KATNB1, NDE1, NUDC, TUBA1A
29neuron migrationGO:00017648.7ARX, CDK5, DCX, NDE1, PAFAH1B1, RELN
30cerebral cortex developmentGO:00219878.6CDK5, LRP8, NDE1, PAFAH1B1, RELN, VLDLR

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1phospholipase A2 activityGO:000462310.4PAFAH1B1, PAFAH1B2
2reelin receptor activityGO:003802510.1LRP8, VLDLR
3very-low-density lipoprotein particle receptor activityGO:003022910.1LRP8, VLDLR
4apolipoprotein bindingGO:003418510.0LRP8, VLDLR
5low-density lipoprotein receptor activityGO:00050419.9LRP8, VLDLR
6dynein bindingGO:00455029.8KATNB1, PAFAH1B1
7transferase activityGO:00167409.6FKRP, FKTN
8microtubule bindingGO:00080178.7DCX, KATNB1, NDE1, PAFAH1B1

Sources for Lissencephaly

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet