MCID: LSS002
MIFTS: 57

Lissencephaly malady

Genetic diseases, Neuronal diseases, Rare diseases, Fetal diseases, Cardiovascular diseases, Skin diseases, Muscle diseases categories
Download this MalaCard

Summaries for Lissencephaly

About this section


Fully expand this MalaCard
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 cerebellar hypoplasia and subcortical laminar heterotopia. 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:65 Lissencephaly, which literally means smooth brain, is a rare brain formation disorder caused by... more...

Descriptions from OMIM:46 257320, 615191, 300067, 300215, 614019 607432, 611603 more

Aliases & Classifications for Lissencephaly

About this section

Lissencephaly, Aliases & Descriptions:

Name: Lissencephaly 8 20 22 43 10 62


Classifications:



External Ids:

Disease Ontology8 DOID:0050453
ICD9CM27 742.2
MeSH34 D054082

Related Diseases for Lissencephaly

About this section

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 148)
idRelated DiseaseScoreTop Affiliating Genes
1cerebellar hypoplasia30.9RELN, PAFAH1B1, DCX
2subcortical laminar heterotopia30.9PAFAH1B1
3lissencephaly 130.9DCX, PAFAH1B1, RELN, PLA2G7
4lissencephaly x-linked30.8DCX, PAFAH1B1, ARX
5periventricular nodular heterotopia30.3RELN, PAFAH1B1, DCX
6schizophrenia30.0PAFAH1B1, RELN, PLA2G7, NDE1
7mental retardation29.9DCX, RELN, ARX
8miller-dieker syndrome10.6
9lissencephaly with cerebellar hypoplasia10.6
10x-linked lissencephaly with abnormal genitalia10.6
11lissencephaly 210.4
12neuronitis10.4
13pachygyria10.4
14subcortical band heterotopia10.4
15partial lissencephaly10.3
16lissencephaly 510.3
17platelet-activating factor acetylhydrolase deficiency10.3PLA2G7
18cerebritis10.3
19lissencephaly 410.3
20muscular dystrophy10.3
21lissencephaly 310.3
22focal epilepsy10.2PAFAH1B1, DCX
23congenital muscular dystrophy10.2
24lis1-associated lissencephaly/subcortical band heterotopia10.2
25x-linked lissencephaly with ambiguous genitalia10.2
26ganglioglioma10.2RELN, DCX
27infantile epileptic encephalopathy10.2PAFAH1B1, ARX
28microcephaly10.2
29developmental disabilities10.2PAFAH1B1, DCX
30west syndrome10.1
31lissencephaly type 3 - metacarpal bone dysplasia10.1
32autistic disorder10.1ARX, RELN
33intellectual disability multi-gene panels10.0ARX, PAFAH1B1, DCX
34cataract10.0
35roberts syndrome10.0
36aicardi syndrome10.0
37retinitis10.0
38agenesis of the corpus callosum10.0
39colpocephaly10.0
40lissencephaly, isolated10.0
41spondylometaphyseal dysplasia sedaghatian type10.0
42thanatophoric dysplasia type 110.0
43baraitser-winter syndrome 110.0
44isolated 17-linked lissencephaly10.0
45dcx-related lissencephaly10.0
46cytomegalovirus infection10.0
47neuronal migration disorders10.0
48neu-laxova syndrome110.0
49isolated lissencephaly type 1 without known genetic defects10.0
50lissencephaly type 3 - familial fetal akinesia sequence10.0

Graphical network of the top 20 diseases related to Lissencephaly:



Diseases related to lissencephaly

Symptoms for Lissencephaly

About this section


Clinical features from OMIM:

257320,615191,300067,300215,614019,607432,611603

Drugs & Therapeutics for Lissencephaly

About this section

Drug clinical trials:

Search ClinicalTrials for Lissencephaly

Search NIH Clinical Center for Lissencephaly

Genetic Tests for Lissencephaly

About this section

Genetic tests related to Lissencephaly:

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

Anatomical Context for Lissencephaly

About this section

MalaCards organs/tissues related to Lissencephaly:

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

Animal Models for Lissencephaly or affiliated genes

About this section

MGI Mouse Phenotypes related to Lissencephaly:

36
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

About this section

Articles related to Lissencephaly:

(show top 50)    (show all 299)
idTitleAuthorsYear
1
Post-natal treatment by a blood-brain-barrier permeable calpain inhibitor, SNJ1945 rescued defective function in lissencephaly. (23390575)
2013
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
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
Septal agenesis and lissencephaly with colpocephaly presenting as the 'Crown Sign'. (21559156)
2010
10
Analysis of the hypothalamus in a case of X-linked lissencephaly with abnormal genitalia (XLAG). (18842366)
2009
11
Association between X-linked lissencephaly with ambiguous genitalia syndrome and lenticulostriate vasculopathy in neonate. (18412232)
2008
12
Lissencephaly type II. (18809028)
2008
13
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
14
Lissencephaly type I. (18809027)
2008
15
X-linked lissencephaly with absent corpus callosum and abnormal genitalia: a report of siblings followed from the prenatal period]. (17515135)
2007
16
The evolving MR imaging appearance of lissencephaly: a case report. (17367971)
2007
17
The cellular roles of the lissencephaly gene LIS1, and what they tell us about brain development. (16751177)
2006
18
Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly. (17101002)
2006
19
Expression of glutamate transporter subtypes during normal human corticogenesis and type II lissencephaly. (15804404)
2005
20
Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: the key questions answered. (15921231)
2005
21
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
22
The role of the lissencephaly protein Pac1 during nuclear migration in budding yeast. (12566428)
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
Presenilin-1 deficiency leads to loss of Cajal-Retzius neurons and cortical dysplasia similar to human type 2 lissencephaly. (10421573)
1999
28
The unfolding story of two lissencephaly genes and brain development. (10966119)
1999
29
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly. (9989616)
1999
30
Analysis of lissencephaly-causing LIS1 mutations. (10583396)
1999
31
The lissencephaly gene product Lis1, a protein involved in neuronal migration, interacts with a nuclear movement protein, NudC. (9601647)
1998
32
Genomic organization of the murine Miller-Dieker/lissencephaly region: conservation of linkage with the human region. (9199935)
1997
33
A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. (9063734)
1997
34
Spatial and temporal development of the gliovascular tissue in type II lissencephaly. (9039465)
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

About this section

Expression for genes affiliated with Lissencephaly

About this section
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

About this section

Compounds for genes affiliated with Lissencephaly

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

Compounds related to Lissencephaly according to GeneCards/GeneDecks:

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

About this section

Cellular components related to Lissencephaly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1kinetochoreGO:0007769.5NDE1, PAFAH1B1
2cytoplasmic microtubuleGO:0058819.4TUBA1A, BICD1
3microtubuleGO:0058749.4NDE1, DCX, TUBA1A
4microtubule associated complexGO:0058759.1PAFAH1B1, DCX, LRP8
5cytosolGO:0058298.6NDE1, BICD1, PAFAH1B1, DCX, TUBA1A

Biological processes related to Lissencephaly according to GeneCards/GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1vesicle transport along microtubuleGO:04749610.1NDE1, PAFAH1B1
2establishment of mitotic spindle orientationGO:00013210.1PAFAH1B1, NDE1
3neuroblast proliferationGO:00740510.0NDE1, PAFAH1B1
4microtubule-based processGO:0070179.9TUBA1A, PAFAH1B1
5hippocampus developmentGO:0217669.9RELN, PAFAH1B1
6cerebral cortex developmentGO:0219879.9PAFAH1B1, NDE1
7cerebral cortex tangential migrationGO:0218009.9RELN, ARX
8G2/M transition of mitotic cell cycleGO:0000869.7NDE1, PAFAH1B1, TUBA1A
9layer formation in cerebral cortexGO:0218199.6LRP8, PAFAH1B1
10reelin-mediated signaling pathwayGO:0380269.6LRP8, RELN
11positive regulation of dendritic spine morphogenesisGO:0610039.6RELN, LRP8
12lipid catabolic processGO:0160429.6PLA2G7, PAFAH1B1
13regulation of synaptic transmissionGO:0508049.5RELN, LRP8
14positive regulation of CREB transcription factor activityGO:0327939.5LRP8, RELN
15positive regulation of protein tyrosine kinase activityGO:0610989.5RELN, LRP8
16mitotic cell cycleGO:0002789.3TUBA1A, PAFAH1B1, NDE1
17axon guidanceGO:0074119.3ARX, RELN, DCX
18positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.0RELN, LRP8
19neuron migrationGO:0017648.9ARX, NDE1, RELN, PAFAH1B1, DCX

Molecular functions related to Lissencephaly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dynactin bindingGO:0344529.7BICD1, PAFAH1B1
2dynein bindingGO:0455029.6BICD1, PAFAH1B1
3structural constituent of cytoskeletonGO:0052009.5BICD1, TUBA1A
4microtubule bindingGO:0080179.2NDE1, PAFAH1B1, DCX

Products for genes affiliated with Lissencephaly

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Lissencephaly

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet