MCID: LSS002
MIFTS: 49

Lissencephaly malady

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

Aliases & Classifications for Lissencephaly

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Summaries for Lissencephaly

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NINDS:49 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 miller-dieker lissencephaly syndrome. An important gene associated with Lissencephaly is PAFAH1B1 (Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1), and among its related pathways are COPI-independent Golgi-to-ER retrograde traffic 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:11 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:71 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

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

(show top 50)    (show all 126)
idRelated DiseaseScoreTop Affiliating Genes
1lissencephaly 112.3
2miller-dieker lissencephaly syndrome12.3
3x-linked lissencephaly with abnormal genitalia12.2
4lissencephaly 212.2
5lissencephaly, x-linked12.1
6lissencephaly with cerebellar hypoplasia12.1
7lissencephaly, x-linked 212.1
8lissencephaly 412.1
9lissencephaly 512.1
10isolated 17-linked lissencephaly12.1
11lissencephaly 312.0
12lissencephaly 6, with microcephaly12.0
13lissencephaly 7 with cerebellar hypoplasia12.0
14lis1-associated lissencephaly/subcortical band heterotopia11.9
15cobblestone lissencephaly11.8
16lissencephaly type iii and bone dysplasia11.7
17dcx-related lissencephaly11.6
18isolated lissencephaly type 1 without known genetic defects11.6
19lissencephaly type 3-familial fetal akinesia sequence syndrome11.6
20lissencephaly with cerebellar hypoplasia type f11.6
21lissencephaly with cerebellar hypoplasia type e11.6
22lissencephaly with cerebellar hypoplasia type b11.6
23lissencephaly with cerebellar hypoplasia type a11.6
24lissencephaly with cerebellar hypoplasia type d11.6
25lissencephaly with cerebellar hypoplasia type c11.6
26band heterotopia11.1
27colpocephaly11.0
28neuronal migration disorders11.0
29microlissencephaly i10.8
30neu-laxova syndrome110.8
31baraitser-winter syndrome 110.8
32muscular dystrophy-dystroglycanopathy , type a, 110.8
33muscular dystrophy-dystroglycanopathy , type a, 1010.8
34chromosome 17p13.1 deletion syndrome10.7
35dcx-related disorders10.7
36congenital muscular alpha-dystroglycanopathy with brain and eye anomalies10.7
37massa casaer ceulemans syndrome10.7
38muscular dystrophy-dystroglycanopathy , type a, 310.6
39muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1110.6
40muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 810.6
41muscular dystrophy-dystroglycanopathy , type a, 910.6
42muscular dystrophy-dystroglycanopathy , type a, 710.6
43muscular dystrophy-dystroglycanopathy , type a, 1210.6
44neu-laxova syndrome 210.6
45muscular dystrophy-dystroglycanopathy , type a, 410.6
46muscular dystrophy-dystroglycanopathy , type a, 1310.6
47muscular dystrophy-dystroglycanopathy , type a, 210.6
48baraitser-winter syndrome 210.6
49microcephaly 2, primary, autosomal recessive, with or without cortical malformations10.6
50muscular dystrophy-dystroglycanopathy , type a, 510.6

Graphical network of the top 20 diseases related to Lissencephaly:



Diseases related to lissencephaly

Symptoms & Phenotypes for Lissencephaly

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MGI Mouse Phenotypes related to Lissencephaly according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.6ARX, CDK5, DAG1, DCX, FKRP, FKTN
2MP:00053897.2ARX, DCX, KATNB1, LRP8, PAFAH1B1, PAFAH1B2
3MP:00053787.0ARX, DAG1, DCX, FKRP, FKTN, KATNB1
4MP:00107686.5ARX, CDK5, DAG1, DCX, FKRP, FKTN
5MP:00053846.0ARX, DAG1, FKRP, FKTN, KATNB1, LRP8
6MP:00036316.0ARX, CDK5, DAG1, DCX, FKRP, FKTN

Drugs & Therapeutics for Lissencephaly

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical-genetic Investigations in Children With Early Infantile EpilepsiesUnknown statusNCT01357707
2Human Epilepsy Genetics--Neuronal Migration Disorders StudyRecruitingNCT00041600
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 Lissencephaly27 24

Anatomical Context for Lissencephaly

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MalaCards organs/tissues related to Lissencephaly:

36
Brain, Cortex, Eye, Cerebellum, T cells, Testes, Hypothalamus

Publications for Lissencephaly

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Articles related to Lissencephaly:

(show top 50)    (show all 332)
idTitleAuthorsYear
1
A novel recurrent LIS1 splice site mutation in classic lissencephaly. (27891766)
2017
2
The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL): Report of two additional patients. (27480277)
2016
3
EP02.04: Prenatal ultrasound diagnosis of lissencephaly in the second trimester of gestation. (27644224)
2016
4
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. (27773430)
2016
5
A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies. (27292316)
2016
6
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. (27773428)
2016
7
Prenatal diagnosis of lissencephaly: A case report. (26964389)
2016
8
Recurrent KIF2A mutations are responsible for classic lissencephaly. (27747449)
2016
9
Lissencephaly in an adult Australian Kelpie. (27021891)
2016
10
Lissencephaly with agenesis of corpus callosum: A rare anomaly. (28050101)
2016
11
In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations. (27431206)
2016
12
A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A. (27896282)
2016
13
Prenatal Diagnosis of Lissencephaly Type 2 using Three-dimensional Ultrasound and Fetal MRI: Case Report and Review of the Literature. (27088705)
2016
14
Visual Impairment Due to Lissencephaly. (27928411)
2016
15
Prenatal imaging diagnosis of cobblestone lissencephaly associated with Walker Warburg syndrome based on a specific sonographic pattern. (26315758)
2015
16
LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs. (26494205)
2015
17
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. (25560765)
2015
18
Novel DCX mutation-caused lissencephaly in a boy and very mild heterotopia in his mother. (25868952)
2015
19
CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly. (26188257)
2015
20
Characterization of intragenic tandem duplication in the PAFAH1B1 gene leading to isolated lissencephaly sequence. (26523152)
2015
21
Response to Correspondence on "Lissencephaly With Brainstem and Cerebellar Hypoplasia and Congenital Cataracts". (25805803)
2015
22
A de novo microdeletion involving PAFAH1B (LIS1) related to lissencephaly phenotype. (26958590)
2015
23
Watery diarrhea-hypopotassemia-acidosis syndrome like diarrhea in a case with X-linked lissencephaly with abnormal genitalia. (26129807)
2015
24
Type 1 lissencephaly and multiple afebrile seizures in a 2-month-old baby. (26167213)
2015
25
Clinical Images: Postterm Newborn with Lissencephaly Presented with Seizure: Case Report and Review of Literature. (26130973)
2015
26
A case of lissencephaly in a 5-month-old infant. (25612753)
2015
27
Lissencephaly with subcortical band heterotopia in an Indian family. (24493317)
2014
28
A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease. (23528852)
2014
29
The genetics of lissencephaly. (24862549)
2014
30
Vitamin C Depletion in Prenatal Guinea Pigs as a Model of Lissencephaly Type II. (25487414)
2014
31
miRNA-based buffering of the cobblestone-lissencephaly-associated extracellular matrix receptor dystroglycan via its alternative 3'-UTR. (25232965)
2014
32
DTI tractography of lissencephaly caused by TUBA1A mutation. (24510153)
2014
33
Cytoskeleton in action: lissencephaly, a neuronal migration disorder. (23495356)
2013
34
Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation. (22633752)
2013
35
Genotype and MRI phenotype in classical lissencephaly. (23428243)
2013
36
A case of schizophrenia accompanied by lissencephaly. (24247873)
2013
37
Lissencephaly With Brainstem and Cerebellar Hypoplasia and Congenital Cataracts. (23864587)
2013
38
New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum. (23365099)
2013
39
A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly. (23633430)
2013
40
Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs. (23938146)
2013
41
Identification of DCX gene mutation in lissencephaly spectrum with subcortical band heterotopia using whole exome sequencing. (23583063)
2013
42
Post-natal treatment by a blood-brain-barrier permeable calpain inhibitor, SNJ1945 rescued defective function in lissencephaly. (23390575)
2013
43
Prenatal diagnosis of ring chromosome 2 with lissencephaly and 2p25.3 and 2q37.3 microdeletions detected using array comparative genomic hybridization. (23403238)
2013
44
Cobblestone lissencephaly in Schinzel-Giedion syndrome. (22532548)
2013
45
Lissencephaly presenting with congenital hypothyroidism. (23751382)
2013
46
Identification of a 31-bp deletion in the RELN gene causing lissencephaly with cerebellar hypoplasia in sheep. (24260534)
2013
47
EEG and neuroimaging correlations in children with lissencephaly. (23298604)
2013
48
Lissencephaly With Brainstem and Cerebellar Hypoplasia and Congenital Cataracts. (23625088)
2013
49
A case of cecal volvulus presenting with chronic constipation in lissencephaly. (24010118)
2013
50
Rare genetic causes of lissencephaly may implicate microtubule-based transport in the pathogenesis of cortical dysplasias (22787614)
2012

Variations for Lissencephaly

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Copy number variations for Lissencephaly from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
132413123650000066000000Copy numberTUBA1ALissencephaly
2225566747600000107200000Copy numberRELNLissencephaly

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
1kinesin complexGO:000587110.3NDE1, PAFAH1B1, YWHAE
2dystrophin-associated glycoprotein complexGO:001601010.2DAG1, FKRP
3microtubule associated complexGO:000587510.1DCX, LRP8, PAFAH1B1
4growth coneGO:00304269.9CDK5, KATNB1, PAFAH1B1
5dendriteGO:00304259.8CDK5, DCX, LRP8, RELN
6microtubuleGO:00058749.2DCX, KATNB1, NDE1, NUDC, TUBA1A
7axonGO:00304248.9CDK5, KATNB1, LRP8, PAFAH1B1, YWHAE
8neuronal cell bodyGO:00430258.6CDK5, KATNB1, LRP8, PAFAH1B1

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

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1axon extensionGO:004867510.7CDK5, DCX
2establishment of mitotic spindle orientationGO:000013210.7NDE1, PAFAH1B1
3microtubule organizing center organizationGO:003102310.6NDE1, PAFAH1B1
4cerebral cortex tangential migrationGO:002180010.6ARX, RELN
5neuroblast proliferationGO:000740510.6NDE1, PAFAH1B1
6negative regulation of JNK cascadeGO:004632910.6FKTN, PAFAH1B1
7regulation of microtubule motor activityGO:200057410.5NDE1, PAFAH1B1
8protein localization to synapseGO:003541810.5CDK5, RELN
9Schwann cell developmentGO:001404410.3CDK5, DAG1
10dendrite morphogenesisGO:004881310.3CDK5, DCX, VLDLR
11modulation of synaptic transmissionGO:005080410.3LRP8, RELN
12positive regulation of CREB transcription factor activityGO:003279310.2LRP8, RELN
13layer formation in cerebral cortexGO:002181910.2CDK5, DCX, PAFAH1B1, RELN
14cell migrationGO:001647710.2CDK5, NDE1, PAFAH1B1, RELN
15positive regulation of protein tyrosine kinase activityGO:006109810.2LRP8, RELN
16positive regulation of protein kinase activityGO:004586010.2CDK5, RELN, VLDLR
17ventral spinal cord developmentGO:002151710.1RELN, VLDLR
18forebrain developmentGO:003090010.1ARX, CDK5, NDE1, RELN
19G2/M transition of mitotic cell cycleGO:000008610.1NDE1, PAFAH1B1, TUBA1A, YWHAE
20positive regulation of dendrite developmentGO:190000610.1LRP8, VLDLR
21positive regulation of dendritic spine morphogenesisGO:006100310.0LRP8, PAFAH1B1, RELN
22brain developmentGO:000742010.0DCX, PAFAH1B1, PAFAH1B2, RELN
23sister chromatid cohesionGO:000706210.0NDE1, NUDC, PAFAH1B1
24vesicle transport along microtubuleGO:004749610.0NDE1, PAFAH1B1
25protein O-linked mannosylationGO:00352699.9FKRP, FKTN, TMEM5
26hippocampus developmentGO:00217669.8CDK5, DCX, PAFAH1B1, RELN, YWHAE
27reelin-mediated signaling pathwayGO:00380269.8LRP8, RELN, VLDLR
28cell divisionGO:00513019.3CDK5, KATNB1, NDE1, NUDC, TUBA1A
29neuron migrationGO:00017649.2ARX, CDK5, DCX, NDE1, PAFAH1B1, RELN
30cerebral cortex developmentGO:00219878.8CDK5, LRP8, NDE1, PAFAH1B1, RELN, VLDLR

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1phospholipase A2 activityGO:000462310.5PAFAH1B1, PAFAH1B2
2apolipoprotein bindingGO:003418510.2LRP8, VLDLR
3low-density lipoprotein receptor activityGO:000504110.2LRP8, VLDLR
4dynein bindingGO:004550210.2KATNB1, PAFAH1B1
5reelin receptor activityGO:003802510.2LRP8, VLDLR
6transferase activityGO:00167409.7FKRP, FKTN
7microtubule bindingGO:00080179.7DCX, KATNB1, NDE1, PAFAH1B1
8very-low-density lipoprotein particle receptor activityGO:00302299.4LRP8, VLDLR

Sources for Lissencephaly

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet