MCID: LSS002
MIFTS: 51

Lissencephaly malady

Summaries for Lissencephaly

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43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
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NINDS:43 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: Lissencephaly is related to lissencephaly 1 and lissencephaly x-linked. An important gene associated with Lissencephaly is PAFAH1B1 (platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)), and among its related pathways are Lissencephaly gene (LIS1) in neuronal migration and development and M Phase. The compounds (1R)-1,2,2-TRIMETHYLPROPYL (R)-METHYLPHOSPHINATE and acetic acid have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and eye, and related mouse phenotypes are nervous system and reproductive system.

Wikipedia:63 Lissencephaly, which literally means smooth brain, is a rare brain formation disorder caused by... more...

Description from OMIM:46 300215,607432,611603,257320,300067

Aliases & Classifications for Lissencephaly

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Sources:
8Disease Ontology, 20GeneTests, 22GTR, 43NINDS, 10DISEASES, 60UMLS, 34MeSH, 46OMIM
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Aliases & Descriptions:

lissencephaly 8 20 22 43 10 60


External Ids:

Disease Ontology8 DOID:0050453
MeSH34 D054082

Related Diseases for Lissencephaly

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Lissencephaly 1 family:

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

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

(show top 50)    (show all 147)
idRelated DiseaseScoreTop Affiliating Genes
1lissencephaly 130.9FEZ1, DISC1, DCX, RELN, PLA2G7, PAFAH1B1
2lissencephaly x-linked30.5ARX, DCX, BLZF1, PAFAH1B1
3schizophrenia30.1NDE1, NDEL1, FEZ1, DISC1, RELN, PLA2G7
4microcephaly30.1PAFAH1B1
5epilepsy syndrome29.9PAFAH1B1, RELN, DCX, ARX
6periventricular nodular heterotopia29.7DCX, RELN, PAFAH1B1
7x-linked lissencephaly with abnormal genitalia10.4
8lissencephaly with cerebellar hypoplasia10.4
9miller-dieker syndrome10.4
10neuronitis10.4
11lissencephaly 210.4
12cerebritis10.2
13partial lissencephaly10.2
14lissencephaly 410.2
15lissencephaly 510.2
16muscular dystrophy10.2
17lissencephaly 310.2
18congenital muscular dystrophy10.2
19lis1-associated lissencephaly/subcortical band heterotopia10.2
20walker-warburg syndrome10.0
21x-linked lissencephaly with ambiguous genitalia10.0
22lissencephaly type 3 - metacarpal bone dysplasia10.0
23cerebellar hypoplasia10.0PAFAH1B1, RELN, DCX
24autistic disorder10.0RELN, ARX, DISC1
25intellectual disability10.0PAFAH1B1, DCX, ARX
26mental retardation10.0ARX, DCX, RELN
27infantile epileptic encephalopathy10.0PAFAH1B1, ARX
28fukuyama congenital muscular dystrophy10.0
29west syndrome10.0
30aicardi syndrome10.0
31cleft palate10.0
32roberts syndrome10.0
33holoprosencephaly10.0
34cataract10.0
35retinitis10.0
36lissencephaly, isolated10.0
37neu laxova syndrome10.0
38thanatophoric dysplasia type 110.0
39baraitser-winter syndrome 110.0
40isolated 17-linked lissencephaly10.0
41dcx-related lissencephaly10.0
42isolated lissencephaly type 1 without known genetic defects10.0
43lissencephaly type 3 - familial fetal akinesia sequence10.0
44lissencephaly - demyelinating axonal neuropathy10.0
45lissencephaly with cerebellar hypoplasia type f10.0
46lissencephaly with cerebellar hypoplasia type e10.0
47lissencephaly with cerebellar hypoplasia type b10.0
48lissencephaly with cerebellar hypoplasia type a10.0
49lissencephaly with cerebellar hypoplasia type d10.0
50lissencephaly with cerebellar hypoplasia type c10.0

Graphical network of the top 20 diseases related to Lissencephaly:



Diseases related to lissencephaly

Clinical Features for Lissencephaly

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46OMIM
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Clinical features from OMIM:

300215,607432,611603,257320,300067

Drugs & Therapeutics for Lissencephaly

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Lissencephaly

Drug clinical trials:

Search ClinicalTrials for Lissencephaly

Search NIH Clinical Center for Lissencephaly

Search CenterWatch for Lissencephaly

Genetic Tests for Lissencephaly

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20GeneTests, 22GTR
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Genetic tests related to Lissencephaly:

id Genetic test Affiliating Genes
1 Lissencephaly Multi-Gene Panels20
2 Lissencephaly22

Anatomical Context for Lissencephaly

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32MalaCards
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MalaCards organs/tissues related to Lissencephaly:

32
Brain, Cortex, Eye, Cerebellum, T cells, Testes, Skin, Heart, Lymph node, Hypothalamus

Animal Models for Lissencephaly or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Lissencephaly:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000363110.7PAFAH1B1, TUBA1A, NDE1, NDEL1, FEZ1, DISC1
2MP:000538910.6DCX, RELN, PAFAH1B1, PAFAH1B2, PAFAH1B3, SPAG16
3MP:000538410.5ARX, NDEL1, NDE1, TUBA1A, CDK5R2, RELN
4MP:000538610.3TUBA1A, FEZ1, DISC1, ARX, DCX, DCLK2

Publications for Lissencephaly

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50PubMed
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Articles related to Lissencephaly:

(show top 50)    (show all 301)
idTitleAuthorsYear
1
A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease. (23528852)
2014
2
Cytoskeleton in action: lissencephaly, a neuronal migration disorder. (23495356)
2013
3
Prenatal diagnosis of ring chromosome 2 with lissencephaly and 2p25.3 and 2q37.3 microdeletions detected using array comparative genomic hybridization. (23403238)
2013
4
EEG and neuroimaging correlations in children with lissencephaly. (23298604)
2013
5
TUBA1A mutation-associated lissencephaly: case report and review of the literature. (22264709)
2012
6
Clinical and MRI findings of lissencephaly in a mixed breed dog. (21685716)
2011
7
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
8
Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes. (20461390)
2010
9
Lissencephaly and mild cerebellar vermis hypoplasia in a case of microcephaly and chorioretinal dysplasia. (20450312)
2010
10
Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia. (19050731)
2009
11
Inhibition of calpain increases LIS1 expression and partially rescues in vivo phenotypes in a mouse model of lissencephaly. (19734909)
2009
12
Miller--Dieker syndrome, type 1 lissencephaly. (18379572)
2008
13
The location of DCX mutations predicts malformation severity in X-linked lissencephaly. (18685874)
2008
14
Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A. (18669490)
2008
15
Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans. (17218254)
2007
16
Smooth mosaics: genotype and phenotype in lissencephaly. (17664400)
2007
17
Classical lissencephaly associated with dolichocephaly, hair and nail defect. (16376045)
2006
18
Expression of glutamate transporter subtypes during normal human corticogenesis and type II lissencephaly. (15804404)
2005
19
The spectrum of type III lissencephaly: a clinicopathological update. (16137167)
2004
20
The role of the lissencephaly protein Pac1 during nuclear migration in budding yeast. (12566428)
2003
21
Chronic sorrow: one mother's experience with two children with lissencephaly. (14610442)
2003
22
A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration. (11734546)
2001
23
The role of cytoplasmic dynein in the human brain developmental disease lissencephaly. (10722879)
2000
24
Hippocampal abnormalities and enhanced excitability in a murine model of human lissencephaly. (10729324)
2000
25
Classical lissencephaly and double cortex (subcortical band heterotopia): LIS1 and doublecortin. (10987567)
2000
26
The unfolding story of two lissencephaly genes and brain development. (10966119)
1999
27
Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. (10430413)
1999
28
Cortin disaster: lissencephaly genes spell double trouble for the developing brain. (9989613)
1999
29
The lissencephaly gene product Lis1, a protein involved in neuronal migration, interacts with a nuclear movement protein, NudC. (9601647)
1998
30
Lissencephaly revisited. (9735603)
1998
31
A novel CNS gene required for neuronal migration and involved in X- linked subcortical laminar heterotopia and lissencephaly syndrome. (9489699)
1998
32
Development of the cerebral cortex: II. Lissencephaly. (9473922)
1998
33
Isolated lissencephaly sequence with balanced chromosome translocation involving 17p13.3. (9628198)
1998
34
New insights into the genetics of lissencephaly. (9727733)
1998
35
Syndromes with lissencephaly. (8730288)
1996
36
X-linked pachygyria and agenesis of the corpus callosum: evidence for an X chromosome lissencephaly locus. (8053659)
1994
37
Fetal type II lissencephaly: a case report. (8306355)
1993
38
Disorder of cerebellar foliation in Walker's lissencephaly and neu-laxova syndrome. (8229082)
1993
39
Development of the cortical dysplasia of type II lissencephaly. (8355808)
1993
40
EEG and evoked potentials in a series of 21 patients with lissencephaly type I. (1565217)
1992
41
Causal heterogeneity in isolated lissencephaly. (1620349)
1992
42
Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly. (1346078)
1992
43
Structure in lissencephaly determined by immunohistochemical staining. (1705801)
1990
44
Lissencephaly: diagnosis by computed tomography and magnetic resonance imaging. (3383858)
1988
45
Lissencephaly. (3135193)
1988
46
Hydrocephalus, lissencephaly, ocular abnormalities and congenital muscular dystrophy. A Warburg syndrome variant? (3100980)
1986
47
Lissencephaly: computed tomographic diagnosis. (6872559)
1983
48
Miller-Dieker syndrome: lissencephaly and monosomy 17p. (6834189)
1983
49
Lissencephaly: two cases. (5948509)
1966
50
A case of atonic cerebral diplegia with lissencephaly. (13818220)
1959

Genetic Variations for Lissencephaly

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Expression for genes affiliated with Lissencephaly

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Lissencephaly

Search GEO for disease gene expression data for Lissencephaly.

Pathways for genes affiliated with Lissencephaly

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37NCBI BioSystems Database, 53Reactome, 29KEGG, 51QIAGEN
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Compounds for genes affiliated with Lissencephaly

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11DrugBank, 44Novoseek, 28IUPHAR, 24HMDB
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Compounds related to Lissencephaly according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1(1R)-1,2,2-TRIMETHYLPROPYL (R)-METHYLPHOSPHINATE1110.5PAFAH1B3, PLA2G7
2acetic acid44 28 11 2413.2PAFAH1B3, PAFAH1B2, PAFAH1B1, PLA2G7

GO Terms for genes affiliated with Lissencephaly

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16Gene Ontology
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Cellular components related to Lissencephaly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1microtubuleGO:00587410.7SPAG16, TUBA1A, NDE1, NDEL1, FEZ1, DISC1
2centrosomeGO:00581310.6PAFAH1B1, DISC1, FEZ1, NDEL1, NDE1
3cell leading edgeGO:03125210.5PAFAH1B1, NDEL1
4kinetochoreGO:00077610.4NDE1, NDEL1, PAFAH1B1
5cytosolGO:00582910.3TUBA1A, NDE1, NDEL1, DCX, BICD1, PAFAH1B1

Biological processes related to Lissencephaly according to GeneCards/GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1neuron migrationGO:00176410.9PAFAH1B1, NDE1, NDEL1, DISC1, ARX, DCX
2vesicle transport along microtubuleGO:04749610.8PAFAH1B1, NDEL1, NDE1
3lipid catabolic processGO:01604210.8PLA2G7, PAFAH1B1, PAFAH1B2, PAFAH1B3
4mitotic cell cycleGO:00027810.8PAFAH1B1, BLZF1, NDEL1, NDE1, TUBA1A
5hippocampus developmentGO:02176610.8CDK5R2, RELN, PAFAH1B1
6nuclear envelope disassemblyGO:05108110.8PAFAH1B1, NDEL1
7cerebral cortex tangential migrationGO:02180010.8ARX, RELN
8brain developmentGO:00742010.8DCX, RELN, PAFAH1B2, PAFAH1B3
9microtubule cytoskeleton organizationGO:00022610.7PAFAH1B1, DISC1, NDEL1
10cerebral cortex radially oriented cell migrationGO:02179910.7NDEL1, DISC1
11retrograde axon cargo transportGO:00809010.7NDEL1, PAFAH1B1
12layer formation in cerebral cortexGO:02181910.7PAFAH1B1, CDK5R2
13cell proliferation in forebrainGO:02184610.6ARX, DISC1
14establishment of mitotic spindle orientationGO:00013210.6NDE1, PAFAH1B1
15G2/M transition of mitotic cell cycleGO:00008610.5PAFAH1B1, NDE1, TUBA1A
16neuroblast proliferationGO:00740510.5PAFAH1B1, NDE1
17axon guidanceGO:00741110.4FEZ1, ARX, DCX, RELN
18positive regulation of axon extensionGO:04577310.2PAFAH1B1, NDEL1

Molecular functions related to Lissencephaly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
11-alkyl-2-acetylglycerophosphocholine esterase activityGO:00384710.5PAFAH1B3, PAFAH1B2, PLA2G7
2dynein bindingGO:04550210.5PAFAH1B1, BICD1
3microtubule bindingGO:00801710.4NDE1, NDEL1, DCX, PAFAH1B1
4dynactin bindingGO:03445210.2PAFAH1B1, BICD1

Products for genes affiliated with Lissencephaly

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  • Antibodies
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Sources for Lissencephaly

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet