MCID: LSS002
MIFTS: 51

Lissencephaly

Categories: Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Lissencephaly

MalaCards integrated aliases for Lissencephaly:

Name: Lissencephaly 12 74 52 53 58 36 29 6 43 15 39

Characteristics:

Orphanet epidemiological data:

58
lissencephaly
Age of onset: Infancy,Neonatal; Age of death: young Adult;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050453
KEGG 36 H00268
MeSH 43 D054082
NCIt 49 C103921
SNOMED-CT 67 23024003
ICD10 32 Q04.3 Q04.8
MESH via Orphanet 44 D054082
ICD10 via Orphanet 33 Q04.3
UMLS via Orphanet 72 C0266463
Orphanet 58 ORPHA48471
UMLS 71 C0266463 C0266483

Summaries for Lissencephaly

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 48471 Definition The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis. Epidemiology The incidence of all forms of type I lissencephaly is around 1 in 100,000 births. Clinical description Children with lissencephaly have feeding and swallowing problems, muscle tone anomalies (early hypotonia and subsequently limb hypertonia), seizures (in particular, infantile spasms) and severe psychomotor retardation. Multiple forms of lissencephaly have been described and their current classification is based on the associated malformations and underlying aetiology. Two large groups can be distinguished: classical lissencephaly (and its variants) and cobblestone lissencephaly. In classical lissencephaly (or type I), the cortex appears thickened, with four more or less disorganised layers rather than six normal layers. In the variants of classical lissencephaly, extra-cortical anomalies are also present (total or subtotal agenesis of the corpus callosum and/or cerebellar hypoplasia). The classical lissencephalies and the variant forms can be further divided into several subgroups. Four forms can be distinguished on the basis of their genetic aetiology: anomalies in the LIS1 gene (isolated lissencephaly and Miller-Dieker syndrome , see these terms), anomalies in the TUBA3 and DCX genes, and lissencephalies caused by mutations in the ARX gene (X-linked lissencephaly with agenesis of the corpus callosum (XLAG) syndrome; see this term). In addition to these four entities, isolated lissencephalies without a known genetic defect, lissencephalies with severe microcephaly (microlissencephaly) and lissencephalies associated with polymalformative syndromes are also included in the group of classical lissencephalies. Cobblestone lissencephaly (formally referred to as type II) is present in three entities: the Walker-Warburg, Fukuyama and MEB (Muscle-Eye-Brain) syndromes (see these terms). It is characterised by global disorganisation of cerebral organogenesis with an uneven cortical surface (with a pebbled or cobblestone appearance). Microscopic examination reveals total disorganisation of the cortex and the absence of any distinguishable layers. Management and treatment Management is symptomatic only (swallowing problems require adapted feeding to prevent food aspiration, articular and respiratory physiotherapy to prevent orthopaedic problems resulting from hyptonia, and treatment of gastrooesophageal reflux). The epilepsy is often resistant to treatment. Prognosis The encephalopathy associated with lissencephaly is often very severe and affected children are completely dependent on their carer. Visit the Orphanet disease page for more resources.

MalaCards based summary : Lissencephaly is related to lissencephaly 1 and lissencephaly, x-linked, 1. An important gene associated with Lissencephaly is MACF1 (Microtubule Actin Crosslinking Factor 1), and among its related pathways/superpathways are Cell Cycle, Mitotic and Mitotic Prometaphase. Affiliated tissues include brain, cortex and eye, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 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.

NINDS : 53 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.  In children with reduced head size at birth, the condition microlissencephaly is typically diagnosed.  Lissencephaly is caused by defective neuronal migration during embryonic development,  the process in which nerve cells move from their place of origin to their permanent location within the cerebral cortex gray matter. Symptoms of the disorder may include unusual facial appearance, difficulty swallowing, failure to thrive, muscle spasms, seizures, and severe psychomotor retardation. Hands, fingers, or toes may be deformed. Lissencephaly may be associated with other diseases including isolated lissencephaly sequence, Miller-Dieker syndrome, and Walker-Warburg syndrome.  Sometimes it can be difficult to distinguish between these  conditions clinically so consultation with national experts is recommended to help ensure correct diagnosis and possible molecular testing.

KEGG : 36 Lissencephaly (LIS), literally meaning smooth brain, is a severe neuronal migration disorder that ranges from agyria/pachygyria to subcortical band heterotopia.

Wikipedia : 74 Lissencephaly (meaning "smooth brain") is a set of rare brain disorders where the whole or parts of the... more...

Related Diseases for Lissencephaly

Diseases in the Lissencephaly family:

Lissencephaly 2 Lissencephaly 1
Lissencephaly 3 Lissencephaly 4
Lissencephaly 5 Lissencephaly 8

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

(show top 50) (show all 277)
# Related Disease Score Top Affiliating Genes
1 lissencephaly 1 35.2 RELN PAFAH1B1 DCX
2 lissencephaly, x-linked, 1 35.0 PAFAH1B1 DCX ARX
3 lissencephaly 2 34.9 VLDLR TUBA1A RELN PAFAH1B1 FKTN ARX
4 lissencephaly with cerebellar hypoplasia 34.7 VLDLR RELN PAFAH1B1 DCX CDK5 ARX
5 miller-dieker lissencephaly syndrome 34.6 YWHAE VLDLR TUBA1A RELN PAFAH1B1 NUDC
6 cobblestone lissencephaly 34.3 TMTC3 RXYLT1 FKTN DAG1
7 pachygyria 33.3 TUBA1A PAFAH1B1 MACF1
8 walker-warburg syndrome 33.2 TUBA1A TMTC3 RXYLT1 RELN PAFAH1B1 FKTN
9 neuronal migration disorders 33.1 TUBA1A RELN PAFAH1B1 DCX
10 muscular dystrophy-dystroglycanopathy , type a, 4 33.1 RXYLT1 FKTN DAG1
11 microlissencephaly 33.1 TUBA1A NDE1 KATNB1
12 muscular dystrophy-dystroglycanopathy , type a, 1 32.7 FKTN DAG1
13 band heterotopia 32.7 YWHAE VLDLR TUBA1A RELN PAFAH1B1 NUDC
14 cerebellar hypoplasia 31.8 VLDLR RELN PAFAH1B1 CDK5
15 west syndrome 31.6 TUBA1A RELN PAFAH1B1 ARX
16 muscle eye brain disease 31.1 RXYLT1 FKTN DAG1
17 microcephaly 31.1 TUBA1A NDE1 NBN KATNB1 FKTN EXOSC3
18 chromosome 17p13.3, centromeric, duplication syndrome 30.7 YWHAE PAFAH1B1 DCX
19 hydranencephaly 30.7 TUBA1A TMTC3 PAFAH1B1 NDE1 ARX
20 primary autosomal recessive microcephaly 30.6 TUBA1A PAFAH1B1 NDEL1 NDE1 KATNB1 CDK5
21 schizophrenia 30.6 YWHAE VLDLR RELN PAFAH1B1 NDEL1 NDE1
22 periventricular nodular heterotopia 30.5 YWHAE TUBA1A TMTC3 RELN PAFAH1B1 NDE1
23 lissencephaly, x-linked, 2 12.7
24 x-linked lissencephaly with abnormal genitalia 12.7
25 lissencephaly 4 12.6
26 lissencephaly 3 12.6
27 lissencephaly 7 with cerebellar hypoplasia 12.6
28 lissencephaly 8 12.5
29 lissencephaly 5 12.5
30 lissencephaly 6 with microcephaly 12.5
31 lissencephaly 9 with complex brainstem malformation 12.5
32 mental retardation, autosomal recessive 34, with variant lissencephaly 12.5
33 pafah1b1-associated lissencephaly/subcortical band heterotopia 12.3
34 lissencephaly type iii and bone dysplasia 12.2
35 lissencephaly, familial, with cleft palate and cerebellar hypoplasia 12.2
36 obsolete: cobblestone lissencephaly type a 12.1
37 obsolete: cobblestone lissencephaly type c 12.1
38 obsolete: cobblestone lissencephaly type b 12.1
39 isolated lissencephaly type 1 without known genetic defects 12.1
40 lissencephaly type 3-familial fetal akinesia sequence syndrome 12.1
41 other syndrome with lissencephaly as a major feature 12.1
42 obsolete: lissencephaly-demyelinating axonal neuropathy syndrome 12.1
43 lissencephaly with cerebellar hypoplasia type f 12.1
44 lissencephaly with cerebellar hypoplasia type e 12.1
45 lissencephaly with cerebellar hypoplasia type b 12.1
46 lissencephaly with cerebellar hypoplasia type a 12.1
47 lissencephaly with cerebellar hypoplasia type d 12.1
48 lissencephaly with cerebellar hypoplasia type c 12.1
49 congenital muscular dystrophy-dystroglycanopathy type a 11.7
50 neu-laxova syndrome 1 11.5

Graphical network of the top 20 diseases related to Lissencephaly:



Diseases related to Lissencephaly

Symptoms & Phenotypes for Lissencephaly

GenomeRNAi Phenotypes related to Lissencephaly according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.03 VLDLR
2 Decreased viability GR00221-A-4 10.03 CDK5
3 Decreased viability GR00240-S-1 10.03 CRADD
4 Decreased viability GR00381-A-1 10.03 NDE1
5 Decreased viability GR00402-S-2 10.03 ARX CDK5 CRADD DAG1 DCX EXOSC3
6 no effect GR00402-S-1 9.62 ARX CDK5 CRADD DAG1 DCX EXOSC3

MGI Mouse Phenotypes related to Lissencephaly:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.1 ARX CRADD DAG1 FKTN KATNB1 NBN
2 behavior/neurological MP:0005386 10.06 ARX CDK5 DAG1 DCX FKTN NBN
3 growth/size/body region MP:0005378 9.97 ARX DAG1 DCX FKTN KATNB1 NBN
4 mortality/aging MP:0010768 9.86 ARX CDK5 CRADD DAG1 DCX EXOSC3
5 nervous system MP:0003631 9.47 ARX CDK5 DAG1 DCX FKTN KATNB1

Drugs & Therapeutics for Lissencephaly

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Human Epilepsy Genetics--Neuronal Migration Disorders Study Unknown status NCT00041600
2 Clinical-genetic Investigations in Children With Early Infantile Epilepsies Completed NCT01357707

Search NIH Clinical Center for Lissencephaly

Cochrane evidence based reviews: lissencephaly

Genetic Tests for Lissencephaly

Genetic tests related to Lissencephaly:

# Genetic test Affiliating Genes
1 Lissencephaly 29

Anatomical Context for Lissencephaly

MalaCards organs/tissues related to Lissencephaly:

40
Brain, Cortex, Eye, Testes, Liver, Bone, Cerebellum

Publications for Lissencephaly

Articles related to Lissencephaly:

(show top 50) (show all 1312)
# Title Authors PMID Year
1
Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype. 61
32028920 2020
2
NuMA1 promotes axon initial segment assembly through inhibition of endocytosis. 61
31727776 2020
3
Endoplasmic reticulum transmembrane protein TMTC3 contributes to O-mannosylation of E-cadherin, cellular adherence, and embryonic gastrulation. 61
31851597 2020
4
Inborn errors of metabolism leading to neuronal migration defects. 61
31747049 2020
5
Role of prenatal magnetic resonance imaging in fetuses with isolated mild or moderate ventriculomegaly in the era of neurosonography: a multicenter study. 61
31917496 2020
6
A journey through formation and malformations of the neo-cortex. 61
31776716 2020
7
The Reeler Mouse: A Translational Model of Human Neurological Conditions, or Simply a Good Tool for Better Understanding Neurodevelopment? 61
31805691 2019
8
[Congenital Zika syndrome in Argentina: case series study]. 61
31758900 2019
9
Prenatal sonographic diagnosis of Dandy-Walker malformation and type III lissencephaly: A novel association. 61
31859376 2019
10
A Model of Brain Folding Based on Strong Local and Weak Long-Range Connectivity Requirements. 61
31808811 2019
11
LIS1 regulates cargo-adapter-mediated activation of dynein by overcoming its autoinhibition in vivo. 61
31562232 2019
12
Isolated Unilateral Cerebellar Hemispheric Dysplasia: A Rare Entity. 61
31352912 2019
13
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34. 61
31301155 2019
14
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. 61
31630790 2019
15
Fetal and neonatal MRI features of ARX-related lissencephaly presenting with neonatal refractory seizure disorder. 61
31867230 2019
16
Early dorsomedial tissue interactions regulate gyrification of distal neocortex. 61
31729356 2019
17
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. 61
31585108 2019
18
Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly. 61
31586943 2019
19
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2. 61
31412107 2019
20
Optic Nerve Hypoplasia, Corpus Callosum Agenesis, Cataract, and Lissencephaly in a Neonate with a NovelCOL4A1 Mutation. 61
31966034 2019
21
Genome-wide association analysis of panicle exsertion and uppermost internode in rice (Oryza sativa L.). 61
31535313 2019
22
Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population. 61
30914828 2019
23
Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum. 61
30568308 2019
24
Extraciliary roles of the ciliopathy protein JBTS17 in mitosis and neurogenesis. 61
31004438 2019
25
AQP1 Overexpression in the CSF of Obstructive Hydrocephalus and Inversion of Its Polarity in the Choroid Plexus of a Chiari Malformation Type II Case. 61
31039249 2019
26
Reelin: Diverse roles in central nervous system development, health and disease. 61
31022460 2019
27
On early brain folding patterns using biomechanical growth modeling. 61
31945865 2019
28
Primate neocortex development and evolution: Conserved versus evolved folding. 61
30552689 2019
29
Clinical and epidemiological aspects of microcephaly in the state of Piauí, northeastern Brazil, 2015-2016. 61
29963988 2019
30
Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics. 61
30879067 2019
31
Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report. 61
30961548 2019
32
TUBA1A mutations identified in lissencephaly patients dominantly disrupt neuronal migration and impair dynein activity. 61
30517687 2019
33
Lissencephaly, cerebellar hypoplasia, and extrahepatic biliary atresia: An unusual association. 61
31047729 2019
34
Congenital cytomegalic inclusion disease with disseminated Herpes simplex infection. 61
31025643 2019
35
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy. 61
30744660 2019
36
The distribution of the proteoglycan FORSE-1 in the developing mouse central nervous system. 61
30474148 2019
37
Perampanel in lissencephaly-associated epilepsy. 61
30723672 2019
38
Rare Concurrence of Two Congenital Disorders: Miller-Dieker Syndrome and T-Cell Lymphopenia. 61
31030199 2019
39
Cromosoma 13 en anillo. 61
30907385 2019
40
Doublecortin Mutation in an Adolescent Male. 61
31259193 2019
41
Fighting Cancer Stem Cell Fate by Targeting LIS1 a WD40 Repeat Protein. 61
31750243 2019
42
Structural and Diffusion MRI Analyses With Histological Observations in Patients With Lissencephaly. 61
31355197 2019
43
Interplay of LIS1 and MeCP2: Interactions and Implications With the Neurodevelopmental Disorders Lissencephaly and Rett Syndrome. 61
31474834 2019
44
Drebrin-like (Dbnl) Controls Neuronal Migration via Regulating N-Cadherin Expression in the Developing Cerebral Cortex. 61
30504273 2019
45
Linking Cell Polarity to Cortical Development and Malformations. 61
31213986 2019
46
Ambiguous Genitalia Associated with an Extremely Rare Syndrome: A Case Report of XLAG Syndrome and Review of the Literature. 61
28272686 2019
47
Identification of a novel PAFAH1B1 missense mutation as a cause of mild lissencephaly with basal ganglia calcification. 61
30100227 2019
48
Tubulin genes and malformations of cortical development. 61
30016746 2018
49
First Autopsy of a Newborn with Congenital Zika Syndrome in Puerto Rico. 61
30576583 2018
50
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. 61
30471716 2018

Variations for Lissencephaly

ClinVar genetic disease variations for Lissencephaly:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 27 genes: PAFAH1B1 GRCh37/hg19 17p13.3(chr17:1361431-2573023)copy number loss Pathogenic 523260 17:1361431-2573023
2 CLUH , METTL16 , PAFAH1B1 , RAP1GAP2 GRCh37/hg19 17p13.3(chr17:2339561-2826073)copy number loss Pathogenic 523261 17:2339561-2826073
3 subset of 18 genes: PAFAH1B1 GRCh37/hg19 17p13.3-13.2(chr17:2339561-3447162)copy number loss Pathogenic 523262 17:2339561-3447162
4 MACF1 NM_012090.5(MACF1):c.14116G>C (p.Gly4706Arg)SNV Pathogenic 586953 rs1488808726 1:39916758-39916758 1:39451086-39451086
5 NBN NM_001024688.2(NBN):c.411_415del (p.Lys137fs)deletion Pathogenic 6940 rs587776650 8:90983442-90983446 8:89971214-89971218
6 EXOSC3 NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)SNV Pathogenic 31691 rs387907196 9:37784950-37784950 9:37784953-37784953
7 TUBA3E NM_207312.3(TUBA3E):c.643C>T (p.Arg215Cys)SNV Likely pathogenic 183299 rs730882212 2:130951772-130951772 2:130194199-130194199
8 CEP85L NM_001042475.3(CEP85L):c.182C>T (p.Ser61Phe)SNV Uncertain significance 438602 rs1554234607 6:118953666-118953666 6:118632503-118632503

Copy number variations for Lissencephaly from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 32413 12 36500000 66000000 Copy number TUBA1A Lissencephaly
2 225566 7 47600000 107200000 Copy number RELN Lissencephaly

Expression for Lissencephaly

Search GEO for disease gene expression data for Lissencephaly.

Pathways for Lissencephaly

GO Terms for Lissencephaly

Cellular components related to Lissencephaly according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.25 YWHAE TUBA1A PAFAH1B1 NUDC NDEL1 NDE1
2 cytoplasm GO:0005737 10.24 YWHAE TUBA1A RELN PAFAH1B1 NUDC NDEL1
3 cell GO:0005623 10.02 YWHAE PAFAH1B1 NDEL1 NDE1 KATNB1 DAG1
4 cytoskeleton GO:0005856 9.85 TUBA1A PAFAH1B1 NUDC NDEL1 NDE1 MACF1
5 axon GO:0030424 9.8 YWHAE PAFAH1B1 NDEL1 KATNB1 CDK5
6 spindle GO:0005819 9.76 PAFAH1B1 NDEL1 NDE1 KATNB1
7 kinetochore GO:0000776 9.67 PAFAH1B1 NDEL1 NDE1
8 kinesin complex GO:0005871 9.56 YWHAE PAFAH1B1 NDEL1 NDE1
9 microtubule associated complex GO:0005875 9.5 PAFAH1B1 NDEL1 DCX
10 microtubule GO:0005874 9.28 TUBA1A PAFAH1B1 NUDC NDEL1 NDE1 MACF1
11 central region of growth cone GO:0090724 9.13 YWHAE PAFAH1B1 NDEL1

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

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 10.09 PAFAH1B1 NUDC NDE1 NBN KATNB1 CDK5
2 cell division GO:0051301 9.97 TUBA1A PAFAH1B1 NUDC NDE1 KATNB1 CDK5
3 nervous system development GO:0007399 9.92 VLDLR PAFAH1B1 NDEL1 NDE1 FKTN DCX
4 cell migration GO:0016477 9.91 RELN PAFAH1B1 NDEL1 NDE1 CDK5
5 G2/M transition of mitotic cell cycle GO:0000086 9.87 YWHAE TUBA1A PAFAH1B1 NDE1
6 microtubule cytoskeleton organization GO:0000226 9.85 TUBA1A PAFAH1B1 NDEL1 CDK5
7 ciliary basal body-plasma membrane docking GO:0097711 9.83 YWHAE TUBA1A PAFAH1B1 NDE1
8 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.78 YWHAE TUBA1A PAFAH1B1 NDE1
9 dendrite morphogenesis GO:0048813 9.76 VLDLR DCX CDK5
10 positive regulation of axon extension GO:0045773 9.75 PAFAH1B1 NDEL1 MACF1
11 establishment of mitotic spindle orientation GO:0000132 9.73 PAFAH1B1 NDEL1 NDE1
12 forebrain development GO:0030900 9.71 RELN NDE1 CDK5 ARX
13 positive regulation of dendritic spine morphogenesis GO:0061003 9.67 RELN PAFAH1B1
14 positive regulation of protein kinase activity GO:0045860 9.67 VLDLR RELN DAG1 CDK5
15 neuroblast proliferation GO:0007405 9.66 PAFAH1B1 NDE1
16 isotype switching GO:0045190 9.66 NBN EXOSC3
17 microtubule nucleation GO:0007020 9.65 NDEL1 NDE1
18 centrosome localization GO:0051642 9.65 NDEL1 NDE1
19 protein localization to synapse GO:0035418 9.65 RELN CDK5
20 cerebral cortex development GO:0021987 9.65 YWHAE RELN PAFAH1B1 NDE1 CDK5
21 retrograde axonal transport GO:0008090 9.64 PAFAH1B1 NDEL1
22 microtubule organizing center organization GO:0031023 9.64 PAFAH1B1 NDE1
23 Schwann cell development GO:0014044 9.63 DAG1 CDK5
24 reelin-mediated signaling pathway GO:0038026 9.63 VLDLR RELN
25 protein O-linked mannosylation GO:0035269 9.63 TMTC3 RXYLT1 FKTN
26 ventral spinal cord development GO:0021517 9.62 VLDLR RELN
27 mitotic centrosome separation GO:0007100 9.62 NDEL1 NDE1
28 nuclear envelope disassembly GO:0051081 9.61 PAFAH1B1 NDEL1
29 vesicle transport along microtubule GO:0047496 9.61 PAFAH1B1 NDEL1 NDE1
30 regulation of microtubule motor activity GO:2000574 9.6 NDEL1 NDE1
31 cerebral cortex tangential migration GO:0021800 9.59 RELN ARX
32 hippocampus development GO:0021766 9.55 YWHAE RELN PAFAH1B1 DCX CDK5
33 establishment of chromosome localization GO:0051303 9.54 NDEL1 NDE1
34 layer formation in cerebral cortex GO:0021819 9.26 RELN PAFAH1B1 DCX CDK5
35 neuron migration GO:0001764 9.23 YWHAE RELN PAFAH1B1 NDEL1 NDE1 DCX

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.91 YWHAE VLDLR TUBA1A TMTC3 RXYLT1 PAFAH1B1
2 microtubule binding GO:0008017 9.17 PAFAH1B1 NDEL1 NDE1 MACF1 KATNB1 DCX
3 dynein complex binding GO:0070840 9.16 PAFAH1B1 KATNB1

Sources for Lissencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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