MCID: LSS002
MIFTS: 47

Lissencephaly malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Cardiovascular diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Lissencephaly

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Summaries for Lissencephaly

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NINDS:46 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 periventricular nodular heterotopia. An important gene associated with Lissencephaly is PAFAH1B1 (Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1), and among its related pathways are Guidance Cues and Growth Cone Motility and Reelin Pathway (Cajal-Retzius cells). Affiliated tissues include brain, cortex and eye, and related mouse phenotypes are behavior/neurological and reproductive system.

Disease Ontology:10 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:68 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 2 Lissencephaly 5
Lissencephaly 3 Lissencephaly 4
Lissencephaly 1 Dcx-Related Lissencephaly
Lissencephaly Due to Tuba1a Mutation Lissencephaly Type 1 Due to Doublecortin Gene 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 123)
idRelated DiseaseScoreTop Affiliating Genes
1lissencephaly 131.6FKTN, NDE1, PAFAH1B1, PAFAH1B2, PAFAH1B3, YWHAE
2periventricular nodular heterotopia22.1ARX, CDK5, DCX, FKRP, FKTN, ISPD
3x-linked lissencephaly with abnormal genitalia12.3
4miller-dieker lissencephaly syndrome12.2
5lissencephaly with cerebellar hypoplasia12.2
6lissencephaly 212.2
7lissencephaly, x-linked12.1
8isolated 17-linked lissencephaly12.1
9lissencephaly 412.1
10lissencephaly 312.0
11lissencephaly 512.0
12lissencephaly, x-linked 212.0
13lissencephaly 6, with microcephaly12.0
14lis1-associated lissencephaly/subcortical band heterotopia12.0
15lissencephaly 7 with cerebellar hypoplasia12.0
16cobblestone lissencephaly11.9
17cobblestone lissencephaly without muscular or ocular involvement11.9
18partial lissencephaly11.8
19lissencephaly type 1 due to doublecortin gene mutation11.8
20lissencephaly due to lis1 mutation11.8
21lissencephaly, isolated11.7
22dcx-related lissencephaly11.7
23lissencephaly due to tuba1a mutation11.7
24isolated lissencephaly type 1 without known genetic defects11.7
25lissencephaly type 3-familial fetal akinesia sequence syndrome11.7
26lissencephaly type 3-metacarpal bone dysplasia syndrome11.7
27lissencephaly with cerebellar hypoplasia type f11.7
28lissencephaly with cerebellar hypoplasia type e11.7
29lissencephaly with cerebellar hypoplasia type b11.7
30lissencephaly with cerebellar hypoplasia type a11.7
31lissencephaly with cerebellar hypoplasia type d11.7
32lissencephaly with cerebellar hypoplasia type c11.7
33microlissencephaly i10.9
34chromosome 17p13.1 deletion syndrome10.8
35dcx-related disorders10.8
36congenital muscular alpha-dystroglycanopathy with brain and eye anomalies10.8
37massa casaer ceulemans syndrome10.8
38pachygyria10.7
39dfna2 nonsyndromic hearing loss10.6DCX, PAFAH1B1
40epilepsy, familial temporal lobe, 710.5PAFAH1B1, RELN
41premature ovarian failure 810.5PAFAH1B1, RELN
42tn polyagglutination syndrome, somatic10.4ARX, DCX, PAFAH1B1
43isolated aniridia10.4DCX, PAFAH1B1, RELN
44hyperphosphatemia10.4DCX, PAFAH1B1, RELN
45walker-warburg syndrome10.3
46colpocephaly10.3
47neuronal migration disorders10.3
48cerebellar hypoplasia10.3
49dysbaric osteonecrosis10.3DCX, NDE1, PAFAH1B1
50neuronitis10.3

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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Human Epilepsy Genetics--Neuronal Migration Disorders StudyRecruitingNCT00041600
2Clinical-genetic Investigations in Children With Early Infantile EpilepsiesRecruitingNCT01357707
3Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402

Search NIH Clinical Center for Lissencephaly


Cochrane evidence based reviews: lissencephaly

Genetic Tests for Lissencephaly

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Genetic tests related to Lissencephaly:

id Genetic test Affiliating Genes
1 Lissencephaly22

Anatomical Context for Lissencephaly

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MalaCards organs/tissues related to Lissencephaly:

33
Brain, Cortex, Eye, Bone, T cells, Skin, Breast

Animal Models for Lissencephaly or affiliated genes

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MGI Mouse Phenotypes related to Lissencephaly:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.8ARX, CDK5, DCX, FKRP, FKTN, LRP8
2MP:00053896.9ARX, DCX, KATNB1, LRP8, PAFAH1B1, PAFAH1B2
3MP:00107686.7ARX, CDK5, DCX, FKRP, FKTN, ISPD
4MP:00036316.6ARX, CDK5, DCX, FKRP, FKTN, ISPD
5MP:00053845.1ARX, FKRP, FKTN, ISPD, KATNB1, LRP8

Publications for Lissencephaly

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Articles related to Lissencephaly:

(show top 50)    (show all 324)
idTitleAuthorsYear
1
Prenatal imaging diagnosis of cobblestone lissencephaly associated with Walker Warburg syndrome based on a specific sonographic pattern. (26315758)
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
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
7
Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes. (20461390)
2010
8
Analysis of the hypothalamus in a case of X-linked lissencephaly with abnormal genitalia (XLAG). (18842366)
2009
9
Association between X-linked lissencephaly with ambiguous genitalia syndrome and lenticulostriate vasculopathy in neonate. (18412232)
2008
10
Lissencephaly type II. (18809028)
2008
11
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
12
Lissencephaly type I. (18809027)
2008
13
X-linked lissencephaly with absent corpus callosum and abnormal genitalia: a report of siblings followed from the prenatal period]. (17515135)
2007
14
The evolving MR imaging appearance of lissencephaly: a case report. (17367971)
2007
15
The cellular roles of the lissencephaly gene LIS1, and what they tell us about brain development. (16751177)
2006
16
Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly. (17101002)
2006
17
Expression of glutamate transporter subtypes during normal human corticogenesis and type II lissencephaly. (15804404)
2005
18
Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: the key questions answered. (15921231)
2005
19
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
20
The role of the lissencephaly protein Pac1 during nuclear migration in budding yeast. (12566428)
2003
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
Lissencephaly type III, stippled epiphyses and loose, thick skin: a new recessively inherited syndrome. (11170088)
2001
24
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. (10973257)
2000
25
99Tc-HmPAO SPECT in 13 patients with classic lissencephaly. (10788746)
2000
26
Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence. (10807542)
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
Genomic organization of the murine Miller-Dieker/lissencephaly region: conservation of linkage with the human region. (9199935)
1997
32
A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. (9063734)
1997
33
Frequent intragenic polymorphism in the 3' untranslated region of the lissencephaly gene 1 (LIS-1). (9147889)
1996
34
Syndromes with lissencephaly. (8730288)
1996
35
Molecular analysis of the lissencephaly gene 1 (LIS-1) in medulloblastomas. (8804025)
1996
36
Lissencephaly gene product. Localization in the central nervous system and loss of immunoreactivity in Miller-Dieker syndrome. (7573359)
1995
37
Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected]. (8028668)
1994
38
Clinical manifestations and evaluation of isolated lissencephaly. (8306352)
1993
39
Fetal type II lissencephaly: a case report. (8306355)
1993
40
LIS1-Associated Lissencephaly/Subcortical Band Heterotopia (20301752)
1993
41
EEG fast activities in lissencephaly. (2013519)
1991
42
Epidemiology of lissencephaly type I. (1745330)
1991
43
EEG in type I lissencephaly. (3371564)
1988
44
MR of lissencephaly. (3135729)
1988
45
Ocular malformations and lissencephaly. (3119342)
1987
46
Agyria (lissencephaly) with anomalous pyramidal crossing. Case report and review of literature. (4031949)
1985
47
A spectrum of gyral anomalies in Miller-Dieker (lissencephaly) syndrome. (6834190)
1983
48
49
50

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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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
1Golgi membraneGO:00001399.5FKRP, FKTN, TMEM5
2dendriteGO:00304259.2CDK5, DCX, LRP8, RELN

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1microtubule-based processGO:000701710.5PAFAH1B1, TUBA1A
2establishment of mitotic spindle orientationGO:000013210.4NDE1, PAFAH1B1
3positive regulation of protein kinase activityGO:004586010.4CDK5, RELN
4positive regulation of dendritic spine morphogenesisGO:006100310.3PAFAH1B1, RELN
5forebrain developmentGO:003090010.2CDK5, NDE1, RELN
6layer formation in cerebral cortexGO:002181910.1PAFAH1B1, RELN
7cerebral cortex developmentGO:002198710.0LRP8, RELN
8mitotic cell cycleGO:00002789.6NDE1, PAFAH1B1, TUBA1A, YWHAE
9reelin-mediated signaling pathwayGO:00380269.4LRP8, RELN
10organelle organizationGO:00069969.4NDE1, PAFAH1B1, TUBA1A, YWHAE
11neuron migrationGO:00017649.4ARX, CDK5, DCX, NDE1, RELN
12cell divisionGO:00513019.3CDK5, NDE1, NUDC, TUBA1A
13axon guidanceGO:00074119.2ARX, DCX, ISPD, RELN

Sources for Lissencephaly

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet