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 cerebellum, 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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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, Cerebellum, Eye, Lymph node, Skin, Heart, T cells, Hypothalamus, Testes

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
New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum. (23365099)
2013
2
A case of cecal volvulus presenting with chronic constipation in lissencephaly. (24010118)
2013
3
Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary. (22408144)
2012
4
Long-term follow-up of type 1 lissencephaly: survival is related to neuroimaging abnormalities. (21410694)
2011
5
The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia. (20331703)
2010
6
The L279P mutation of nuclear distribution gene C (NudC) influences its chaperone activity and lissencephaly protein 1 (LIS1) stability. (20675372)
2010
7
A newborn with congenital complete atrioventricular block, lissencephaly, and skeletal abnormalities: a case of suspected cytomegalovirus infection. (21087439)
2010
8
Analysis of the hypothalamus in a case of X-linked lissencephaly with abnormal genitalia (XLAG). (18842366)
2009
9
Aicardi syndrome in a 47, XXY male neonate with lissencephaly and holoprosencephaly. (19155022)
2009
10
Prenatal diagnosis of monosomy 17p (17p13.3-->pter) associated with polyhydramnios, intrauterine growth restriction, ventriculomegaly, and Miller-Dieker lissencephaly syndrome in a fetus. (20045764)
2009
11
High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis. (18285425)
2008
12
X-linked lissencephaly with absent corpus callosum and abnormal genitalia: a report of siblings followed from the prenatal period]. (17515135)
2007
13
Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly. (17997185)
2007
14
The structure of the coiled-coil domain of Ndel1 and the basis of its interaction with Lis1, the causal protein of Miller-Dieker lissencephaly. (17997972)
2007
15
Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly. (17101002)
2006
16
Lissencephaly 1 linking to multiple diseases: mental retardation, neurodegeneration, schizophrenia, male sterility, and more. (17028375)
2006
17
Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome. (17221017)
2006
18
Total callosotomy for a case of lissencephaly presenting with West syndrome and generalized seizures. (15654631)
2005
19
Missense mutations resulting in type 1 lissencephaly. (15719169)
2005
20
Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat. (14708103)
2004
21
ARX mutations in X-linked lissencephaly with abnormal genitalia. (12874405)
2003
22
Magnetic resonance imaging features of lissencephaly in 2 Lhasa Apsos. (12174995)
2002
23
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings. (11891829)
2002
24
LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. (11502906)
2001
25
Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. (11748497)
2001
26
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. (10973257)
2000
27
A study of EEG, electroretinogram, visual evoked potential, and eye movements in classical lissencephaly. (10665975)
2000
28
Direct association of LIS1, the lissencephaly gene product, with a mammalian homologue of a fungal nuclear distribution protein, rNUDE. (10940388)
2000
29
Interaction between LIS1 and doublecortin, two lissencephaly gene products. (11001923)
2000
30
Clinical features of 21 patients with lissencephaly type I (agyria-pachygyria). (11105619)
2000
31
Lissencephaly: fetal pattern of glucose metabolism on positron emission tomography? (11113223)
2000
32
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly. (9989616)
1999
33
MRI-neuropathological correlations in type 1 lissencephaly. (9561523)
1998
34
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. (9132485)
1997
35
Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain. (9097958)
1997
36
Molecular analysis of the lissencephaly gene 1 (LIS-1) in medulloblastomas. (8804025)
1996
37
Lissencephaly with extreme cerebral and cerebellar hypoplasia. A magnetic resonance imaging study. (8971750)
1996
38
Lethal congenital muscular dystrophy in two sibs with arthrogryposis multiplex: new entity or variant of cobblestone lissencephaly syndrome? (9050048)
1996
39
Lissencephaly with pontocerebellar hypoplasia. (8734030)
1996
40
Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene. (8057113)
1994
41
DNA analysis in patients with lissencephaly type I and other cortical dysplasias. (1951447)
1991
42
Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13. (1879837)
1991
43
Lissencephaly and pachygyria. (2736411)
1989
44
EEG in type I lissencephaly. (3371564)
1988
45
The clinical and radiological evaluation of lissencephaly. (3249336)
1988
46
A Golgi study of the cerebral cortex in Fukuyama-type congenital muscular dystrophy, Walker-type "lissencephaly," and classical lissencephaly. (2451446)
1987
47
Further comments on the lissencephaly syndromes. (3901751)
1985
48
Computed tomographic appearance of lissencephaly syndromes. (3927671)
1985
49
Agyria-pachygyria (lissencephaly syndrome). (988918)
1976
50
Lissencephaly. (175907)
1976

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