MCID: LSS002
MIFTS: 47

Lissencephaly malady

Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Skin diseases, Fetal diseases categories

Aliases & Classifications for Lissencephaly

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Aliases & Descriptions for Lissencephaly:

Name: Lissencephaly 8 20 43 10 22 61


Classifications:



External Ids:

Disease Ontology8 DOID:0050453
ICD9CM27 742.2
MeSH33 D054082

Summaries for Lissencephaly

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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 based summary: Lissencephaly is related to lissencephaly 1 and cerebellar hypoplasia. An important gene associated with Lissencephaly is PAFAH1B1 (platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)), and among its related pathways are Acyl chain remodelling of PC and Cytoskeletal Signaling. The compounds LysoPC(O-18:0) and txb2 have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and eye, and related mouse phenotypes are reproductive system and behavior/neurological.

Disease Ontology:8 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:64 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 5 Lissencephaly 3
Lissencephaly 1 Lissencephaly 2
Lissencephaly 4 Dcx-Related Lissencephaly
Lissencephaly Due to Tuba1a 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 164)
idRelated DiseaseScoreTop Affiliating Genes
1lissencephaly 131.6PAFAH1B1
2cerebellar hypoplasia30.9PAFAH1B1, RELN, DCX
3lissencephaly, x-linked30.8PAFAH1B1, DCX, ARX
4west syndrome30.3PAFAH1B1, ARX
5periventricular nodular heterotopia30.0RELN, PAFAH1B1, DCX
6schizophrenia30.0RELN, NDE1, PAFAH1B1, PLA2G7
7mental retardation29.9DCX, RELN, ARX
8x-linked lissencephaly with abnormal genitalia10.6
9miller-dieker syndrome10.5
10lissencephaly 210.5
11langerhans-cell histiocytosis10.5
12subcortical band heterotopia10.5
13miller-dieker lissencephaly syndrome10.4
14pachygyria10.4
15neuronitis10.4
16lissencephaly 410.4
17lissencephaly 310.3
18lissencephaly, x-linked 210.3
19partial lissencephaly10.3
20platelet-activating factor acetylhydrolase deficiency10.3PLA2G7
21cerebritis10.3
22lissencephaly 510.3
23muscular dystrophy10.3
24lis1-associated lissencephaly/subcortical band heterotopia10.3
25cobblestone lissencephaly without muscular or ocular involvement10.3
26focal epilepsy10.2DCX, PAFAH1B1
27lissencephaly 6, with microcephaly10.2
28ganglioglioma10.2RELN, DCX
29microcephaly10.2
30lissencephaly due to lis1 mutation10.2
31developmental disabilities10.1PAFAH1B1, DCX
32neu-laxova syndrome110.1
33holoprosencephaly10.1
34lissencephaly, isolated10.1
35isolated 17-linked lissencephaly10.1
36dcx-related lissencephaly10.1
37lissencephaly due to tuba1a mutation10.1
38isolated lissencephaly type 1 without known genetic defects10.1
39lissencephaly type 3 - familial fetal akinesia sequence10.1
40lissencephaly type 3 - metacarpal bone dysplasia10.1
41lissencephaly with cerebellar hypoplasia type f10.1
42lissencephaly with cerebellar hypoplasia type e10.1
43lissencephaly with cerebellar hypoplasia type b10.1
44lissencephaly with cerebellar hypoplasia type a10.1
45lissencephaly with cerebellar hypoplasia type d10.1
46lissencephaly with cerebellar hypoplasia type c10.1
47autistic disorder10.1ARX, RELN
48intellectual disability multi-gene panels10.0DCX, PAFAH1B1, ARX
49thanatophoric dysplasia, type i10.0
50baraitser-winter syndrome 110.0

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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Drug clinical trials:

Search ClinicalTrials for Lissencephaly

Search NIH Clinical Center for Lissencephaly

Genetic Tests for Lissencephaly

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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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MalaCards organs/tissues related to Lissencephaly:

31
Brain, Cortex, Eye, Cerebellum, Lymph node, Heart, Skin, Testes, T cells, Hypothalamus

Animal Models for Lissencephaly or affiliated genes

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MGI Mouse Phenotypes related to Lissencephaly:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053897.8LRP8, DCX, PAFAH1B1, RELN, ARX
2MP:00053867.7TUBA1A, LRP8, DCX, PAFAH1B1, RELN, ARX
3MP:00053787.7ARX, RELN, PAFAH1B1, DCX, LRP8, TUBA1A
4MP:00053847.6TUBA1A, LRP8, PAFAH1B1, RELN, NDE1, ARX
5MP:00036317.4ARX, TUBA1A, LRP8, DCX, PAFAH1B1, RELN

Publications for Lissencephaly

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Articles related to Lissencephaly:

(show top 50)    (show all 309)
idTitleAuthorsYear
1
Erratum to: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. (25609191)
2015
2
Post-natal treatment by a blood-brain-barrier permeable calpain inhibitor, SNJ1945 rescued defective function in lissencephaly. (23390575)
2013
3
Cytoskeleton in action: lissencephaly, a neuronal migration disorder. (23495356)
2013
4
Rare genetic causes of lissencephaly may implicate microtubule-based transport in the pathogenesis of cortical dysplasias (22787614)
2012
5
Lissencephaly with bilateral complete cleft lip and palate: an early second-trimester diagnosis. (22215777)
2012
6
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
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
Analysis of the hypothalamus in a case of X-linked lissencephaly with abnormal genitalia (XLAG). (18842366)
2009
10
Association between X-linked lissencephaly with ambiguous genitalia syndrome and lenticulostriate vasculopathy in neonate. (18412232)
2008
11
Lissencephaly type II. (18809028)
2008
12
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
13
Lissencephaly type I. (18809027)
2008
14
X-linked lissencephaly with absent corpus callosum and abnormal genitalia: a report of siblings followed from the prenatal period]. (17515135)
2007
15
The evolving MR imaging appearance of lissencephaly: a case report. (17367971)
2007
16
The cellular roles of the lissencephaly gene LIS1, and what they tell us about brain development. (16751177)
2006
17
Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly. (17101002)
2006
18
Expression of glutamate transporter subtypes during normal human corticogenesis and type II lissencephaly. (15804404)
2005
19
Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: the key questions answered. (15921231)
2005
20
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
21
The role of the lissencephaly protein Pac1 during nuclear migration in budding yeast. (12566428)
2003
22
ARX mutations in X-linked lissencephaly with abnormal genitalia. (12874405)
2003
23
Magnetic resonance imaging features of lissencephaly in 2 Lhasa Apsos. (12174995)
2002
24
Lissencephaly type III, stippled epiphyses and loose, thick skin: a new recessively inherited syndrome. (11170088)
2001
25
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. (10973257)
2000
26
99Tc-HmPAO SPECT in 13 patients with classic lissencephaly. (10788746)
2000
27
Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence. (10807542)
2000
28
Presenilin-1 deficiency leads to loss of Cajal-Retzius neurons and cortical dysplasia similar to human type 2 lissencephaly. (10421573)
1999
29
The unfolding story of two lissencephaly genes and brain development. (10966119)
1999
30
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly. (9989616)
1999
31
Analysis of lissencephaly-causing LIS1 mutations. (10583396)
1999
32
The lissencephaly gene product Lis1, a protein involved in neuronal migration, interacts with a nuclear movement protein, NudC. (9601647)
1998
33
Genomic organization of the murine Miller-Dieker/lissencephaly region: conservation of linkage with the human region. (9199935)
1997
34
A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. (9063734)
1997
35
Frequent intragenic polymorphism in the 3' untranslated region of the lissencephaly gene 1 (LIS-1). (9147889)
1996
36
Syndromes with lissencephaly. (8730288)
1996
37
Molecular analysis of the lissencephaly gene 1 (LIS-1) in medulloblastomas. (8804025)
1996
38
Lissencephaly gene product. Localization in the central nervous system and loss of immunoreactivity in Miller-Dieker syndrome. (7573359)
1995
39
Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected]. (8028668)
1994
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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Compounds for genes affiliated with Lissencephaly

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Sources:
24HMDB, 44Novoseek, 28IUPHAR, 11DrugBank
See all sources

Compounds related to Lissencephaly according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1LysoPC(O-18:0)249.7PLA2G7, PAFAH1B1
2txb2449.6PAFAH1B1, PLA2G7
3dithiothreitol449.6PLA2G7, PAFAH1B1
4acetic acid44 28 24 1112.5PLA2G7, PAFAH1B1
5phospholipid448.8PLA2G7, PAFAH1B1, LRP8
6nmda44 289.8PLA2G7, RELN, LRP8
7lipid448.1PLA2G7, RELN, PAFAH1B1, LRP8

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
1kinetochoreGO:00007769.5NDE1, PAFAH1B1
2cytoplasmic microtubuleGO:00058819.4TUBA1A, BICD1
3microtubuleGO:00058749.4NDE1, DCX, TUBA1A
4microtubule associated complexGO:00058759.1PAFAH1B1, DCX, LRP8
5cytosolGO:00058298.6NDE1, BICD1, PAFAH1B1, DCX, TUBA1A

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1vesicle transport along microtubuleGO:004749610.1NDE1, PAFAH1B1
2establishment of mitotic spindle orientationGO:000013210.1PAFAH1B1, NDE1
3neuroblast proliferationGO:000740510.0NDE1, PAFAH1B1
4microtubule-based processGO:00070179.9TUBA1A, PAFAH1B1
5hippocampus developmentGO:00217669.9RELN, PAFAH1B1
6cerebral cortex developmentGO:00219879.9PAFAH1B1, NDE1
7cerebral cortex tangential migrationGO:00218009.9RELN, ARX
8G2/M transition of mitotic cell cycleGO:00000869.7NDE1, PAFAH1B1, TUBA1A
9layer formation in cerebral cortexGO:00218199.6LRP8, PAFAH1B1
10reelin-mediated signaling pathwayGO:00380269.6LRP8, RELN
11positive regulation of dendritic spine morphogenesisGO:00610039.6RELN, LRP8
12lipid catabolic processGO:00160429.6PLA2G7, PAFAH1B1
13regulation of synaptic transmissionGO:00508049.5RELN, LRP8
14positive regulation of CREB transcription factor activityGO:00327939.5LRP8, RELN
15positive regulation of protein tyrosine kinase activityGO:00610989.5RELN, LRP8
16mitotic cell cycleGO:00002789.3TUBA1A, PAFAH1B1, NDE1
17axon guidanceGO:00074119.3ARX, RELN, DCX
18positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.0RELN, LRP8
19neuron migrationGO:00017648.9ARX, NDE1, RELN, PAFAH1B1, DCX

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

idNameGO IDScoreTop Affiliating Genes
1dynactin bindingGO:00344529.7BICD1, PAFAH1B1
2dynein bindingGO:00455029.6BICD1, PAFAH1B1
3structural constituent of cytoskeletonGO:00052009.5BICD1, TUBA1A
4microtubule bindingGO:00080179.2NDE1, PAFAH1B1, DCX

Sources for Lissencephaly

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet