MCID: LSS002
MIFTS: 51

Lissencephaly malady

Summaries for Lissencephaly

Sources:
44NINDS, 64Wikipedia, 47OMIM, 33MalaCards
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NINDS:44 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 skin, brain and lymph node, and related mouse phenotypes are nervous system and reproductive system.

Wikipedia:64 Lissencephaly, which literally means smooth brain, is a rare brain formation disorder caused by... more...

Description from OMIM:47 300215,607432,611603,257320,300067

Aliases & Classifications for Lissencephaly

Sources:
8Disease Ontology, 20GeneTests, 22GTR, 44NINDS, 10DISEASES, 61UMLS, 35MeSH, 47OMIM
See all sources

Aliases & Descriptions:

lissencephaly 8 20 22 44 10 61


External Ids:

Disease Ontology8 DOID:0050453
MeSH35 D054082

Related Diseases for Lissencephaly

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

lissencephaly lissencephaly 2
lissencephaly 3 lissencephaly 4
lissencephaly with cerebellar hypoplasia lissencephaly 5
lissencephaly with cerebellar hypoplasia type f lissencephaly with cerebellar hypoplasia type e
lissencephaly with cerebellar hypoplasia type b lissencephaly with cerebellar hypoplasia type a
lissencephaly with cerebellar hypoplasia type d lissencephaly with cerebellar hypoplasia type c

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

(show top 50)    (show all 153)
idRelated DiseaseScoreTop Affiliating Genes
1lissencephaly 131.0FEZ1, DISC1, DCX, RELN, PLA2G7, PAFAH1B1
2lissencephaly x-linked30.6ARX, DCX, BLZF1, PAFAH1B1
3cerebellar hypoplasia30.6PAFAH1B1, RELN, DCX
4microcephaly30.2PAFAH1B1
5mental retardation29.9ARX, DCX, RELN
6periventricular nodular heterotopia29.7DCX, RELN, PAFAH1B1
7miller-dieker syndrome10.6
8lissencephaly, isolated10.5
9x-linked lissencephaly with abnormal genitalia10.5
10lissencephaly with cerebellar hypoplasia10.4
11lissencephaly 210.4
12pachygyria10.4
13subcortical band heterotopia10.3
14n syndrome10.3
15partial lissencephaly10.3
16lissencephaly 410.2
17lissencephaly 510.2
18lissencephaly 310.2
19corpus callosum agenesis10.2
20subcortical laminar heterotopia10.2
21lis1-associated lissencephaly/subcortical band heterotopia10.1
22walker-warburg syndrome10.1
23cerebellar agenesis10.1
24x-linked lissencephaly with ambiguous genitalia10.1
25lissencephaly type 3 - metacarpal bone dysplasia10.1
26schizophrenia10.0NDE1, NDEL1, FEZ1, DISC1, RELN, PLA2G7
27autistic disorder10.0RELN, ARX, DISC1
28intellectual disability10.0PAFAH1B1, DCX, ARX
29epilepsy syndrome10.0PAFAH1B1, RELN, DCX, ARX
30infantile epileptic encephalopathy10.0PAFAH1B1, ARX
31fukuyama congenital muscular dystrophy10.0
32west syndrome10.0
33aicardi syndrome10.0
34cleft palate10.0
35roberts syndrome10.0
36holoprosencephaly10.0
37micro syndrome10.0
38fukuyama type muscular dystrophy10.0
39cobb syndrome10.0
40colpocephaly10.0
41neu laxova syndrome10.0
42ocular muscular dystrophy10.0
43thanatophoric dysplasia type 110.0
44baraitser-winter syndrome 110.0
45isolated 17-linked lissencephaly10.0
46dcx-related lissencephaly10.0
47periventricular heterotopia10.0
48cytomegalovirus infection10.0
49cataract, congenital10.0
50isolated lissencephaly type 1 without known genetic defects10.0

Graphical network of the top 20 diseases related to Lissencephaly:



Diseases related to lissencephaly

Clinical Features for Lissencephaly

Sources:
47OMIM
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Clinical features from OMIM:

300215,607432,611603,257320,300067

Drugs & Therapeutics for Lissencephaly

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Lissencephaly:

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

Anatomical Context for Lissencephaly

Sources:
33MalaCards
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MalaCards organs/tissues related to Lissencephaly:

33
Skin, Brain, Lymph node, Whole blood, Cortex, Cerebellum, Heart, Smooth muscle, Skeletal muscle, T cells, Fetal brain, Hypothalamus, Atrioventricular node

Animal Models for Lissencephaly or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Lissencephaly

Sources:
51PubMed
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Articles related to Lissencephaly:

(show top 50)    (show all 309)
idTitleAuthorsYear
1
Cobblestone lissencephaly in Schinzel-Giedion syndrome. (22532548)
2013
2
Identification of a 31-bp deletion in the RELN gene causing lissencephaly with cerebellar hypoplasia in sheep. (24260534)
2013
3
Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs. (23938146)
2013
4
Identification of DCX gene mutation in lissencephaly spectrum with subcortical band heterotopia using whole exome sequencing. (23583063)
2013
5
Septal agenesis and lissencephaly with colpocephaly presenting as the 'Crown Sign'. (21559156)
2010
6
Lissencephaly--not an uncommon cause of intractable seizure in children: report of 3 cases. (20839570)
2010
7
Prenatal diagnosis of lissencephaly: a case report. (19260111)
2009
8
The Drosophila cell adhesion molecule Neuroglian regulates Lissencephaly-1 localisation in circulating immunosurveillance cells. (19320973)
2009
9
Genetics and biology of microcephaly and lissencephaly. (19778709)
2009
10
Classical (type I) lissencephaly and Miller-Dieker syndrome. (19302951)
2009
11
The location of DCX mutations predicts malformation severity in X-linked lissencephaly. (18685874)
2008
12
Extremely low preanesthetic BIS values in two children with West syndrome and lissencephaly. (18384340)
2008
13
Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG). (18458920)
2008
14
Tigroid pattern of the white matter: a previously unrecognized MR finding in lissencephaly with cerebellar hypoplasia. (18521588)
2008
15
Lissencephaly variant of band heterotopia: PET peeves. (18021933)
2007
16
Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans. (17218254)
2007
17
Genetic and clinical aspects of lissencephaly]. (17571022)
2007
18
Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development. (17850624)
2007
19
The cellular roles of the lissencephaly gene LIS1, and what they tell us about brain development. (16751177)
2006
20
Central and gonadal hypogonadism in X-linked lissencephaly. (16995578)
2006
21
Joubert syndrome associated with lissencephaly. (15923702)
2005
22
Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different. (15057976)
2004
23
Expression of genes related to muscular dystrophy with lissencephaly. (15351017)
2004
24
Chronic sorrow: one mother's experience with two children with lissencephaly. (14610442)
2003
25
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1). (11754098)
2002
26
A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration. (11734546)
2001
27
An infant with isolated Lissencephaly. (24185189)
2001
28
Hippocampal abnormalities and enhanced excitability in a murine model of human lissencephaly. (10729324)
2000
29
Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development. (10727864)
2000
30
Presenilin-1 deficiency leads to loss of Cajal-Retzius neurons and cortical dysplasia similar to human type 2 lissencephaly. (10421573)
1999
31
Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. (10430413)
1999
32
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. (10494089)
1999
33
Antenatal diagnosis of isolated lissencephaly by ultrasound and magnetic resonance imaging. (9819861)
1998
34
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. (9489700)
1998
35
Genomic organization of the murine Miller-Dieker/lissencephaly region: conservation of linkage with the human region. (9199935)
1997
36
Spatial and temporal development of the gliovascular tissue in type II lissencephaly. (9039465)
1997
37
LIS2, gene and pseudogene, homologous to LIS1 (lissencephaly 1), located on the short and long arms of chromosome 2. (8586424)
1995
38
Clinical manifestations and evaluation of isolated lissencephaly. (8306352)
1993
39
Dinucleotide repeat polymorphism mapping to the critical region for lissencephaly (17p13.3). (8518813)
1993
40
Disorder of cerebellar foliation in Walker's lissencephaly and neu-laxova syndrome. (8229082)
1993
41
EEG fast activities in lissencephaly. (2013519)
1991
42
Regional brain morphometry and lissencephaly in the Sirenia. (2379080)
1990
43
The neurogenetics of lissencephaly. (2646523)
1989
44
MR of lissencephaly. (3135729)
1988
45
Lissencephaly. (3135193)
1988
46
Ocular malformations and lissencephaly. (3119342)
1987
47
Agyria (lissencephaly) with anomalous pyramidal crossing. Case report and review of literature. (4031949)
1985
48
A spectrum of gyral anomalies in Miller-Dieker (lissencephaly) syndrome. (6834190)
1983
49
Miller-Dieker syndrome: lissencephaly and monosomy 17p. (6834189)
1983
50
Lissencephaly and Pachygyria: an architectonic and topographical analysis. (1121923)
1975

Genetic Variations for Lissencephaly

Expression for genes affiliated with Lissencephaly

Sources:
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

Sources:
38NCBI BioSystems Database, 54Reactome, 30KEGG, 52QIAGEN
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Compounds for genes affiliated with Lissencephaly

Sources:
11DrugBank, 45Novoseek, 29IUPHAR, 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 acid45 29 11 2413.2PAFAH1B3, PAFAH1B2, PAFAH1B1, PLA2G7

GO Terms for genes affiliated with Lissencephaly

Sources:
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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Sources for Lissencephaly

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet