MCID: LSS002
MIFTS: 49

Lissencephaly

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

Aliases & Classifications for Lissencephaly

Summaries for Lissencephaly

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 48471Disease definitionThe 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.EpidemiologyThe incidence of all forms of type I lissencephaly is around 1 in 100,000 births.Clinical descriptionChildren 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 treatmentManagement 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.PrognosisThe 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 2. An important gene associated with Lissencephaly is NBN (Nibrin), and among its related pathways/superpathways are Reelin Pathway (Cajal-Retzius cells) and Guidance Cues and Growth Cone Motility. Affiliated tissues include brain, cortex and eye, and related phenotypes are no effect and Increased transferrin (TF) endocytosis

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 : 55 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.

Wikipedia : 77 Lissencephaly is a set of rare brain disorders where the whole or parts of the surface of the brain... 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 157)
# Related Disease Score Top Affiliating Genes
1 lissencephaly 1 34.6 DCX PAFAH1B1 RELN
2 lissencephaly 2 34.5 ARX NDE1 RELN
3 lissencephaly, x-linked, 1 34.4 ARX DCX PAFAH1B1
4 miller-dieker lissencephaly syndrome 34.3 PAFAH1B1 TUBA1A YWHAE
5 lissencephaly with cerebellar hypoplasia 33.4 ARX CDK5 DCX LRP8 PAFAH1B1 RELN
6 pachygyria 32.6 PAFAH1B1 TUBA1A
7 band heterotopia 32.4 DCX PAFAH1B1 RELN TUBA1A
8 microlissencephaly 31.9 KATNB1 NDE1 TUBA1A
9 walker-warburg syndrome 31.8 DAG1 FKRP FKTN RXYLT1 TMTC3
10 muscular dystrophy-dystroglycanopathy , type a, 1 31.6 DAG1 FKRP FKTN
11 muscular dystrophy-dystroglycanopathy , type a, 4 31.4 DAG1 FKRP FKTN
12 neuronal migration disorders 31.3 ARX DCX PAFAH1B1 RELN VLDLR YWHAE
13 cerebellar hypoplasia 30.9 CDK5 DCX PAFAH1B1 RELN VLDLR
14 muscular dystrophy, congenital, lmna-related 30.3 DAG1 FKRP FKTN
15 periventricular nodular heterotopia 30.0 DCX PAFAH1B1 RELN TMTC3 TUBA1A
16 x-linked lissencephaly with abnormal genitalia 12.6
17 lissencephaly, x-linked, 2 12.5
18 lissencephaly 4 12.5
19 lissencephaly 3 12.5
20 lissencephaly 7 with cerebellar hypoplasia 12.5
21 lissencephaly 8 12.4
22 lissencephaly 5 12.4
23 lissencephaly 6 with microcephaly 12.4
24 mental retardation, autosomal recessive 34, with variant lissencephaly 12.4
25 lissencephaly 9 with complex brainstem malformation 12.3
26 pafah1b1-associated lissencephaly/subcortical band heterotopia 12.0
27 lissencephaly type iii and bone dysplasia 12.0
28 lissencephaly, familial, with cleft palate and cerebellar hypoplasia 12.0
29 isolated lissencephaly type 1 without known genetic defects 12.0
30 lissencephaly type 3-familial fetal akinesia sequence syndrome 12.0
31 lissencephaly with cerebellar hypoplasia type f 12.0
32 lissencephaly with cerebellar hypoplasia type e 12.0
33 lissencephaly with cerebellar hypoplasia type b 12.0
34 lissencephaly with cerebellar hypoplasia type a 12.0
35 lissencephaly with cerebellar hypoplasia type d 12.0
36 lissencephaly with cerebellar hypoplasia type c 12.0
37 fukuyama type muscular dystrophy 11.4
38 neu-laxova syndrome 1 11.4
39 muscular dystrophy-dystroglycanopathy , type a, 10 11.4
40 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 11.4
41 massa casaer ceulemans syndrome 11.3
42 cortical dysplasia, complex, with other brain malformations 7 11.2
43 muscular dystrophy-dystroglycanopathy , type a, 7 11.2
44 colpocephaly 11.2
45 baraitser-winter syndrome 1 11.1
46 hydrocephalus, congenital, 2, with or without brain or eye anomalies 11.1
47 microcephaly 17, primary, autosomal recessive 11.1
48 chromosome xq26.3 duplication syndrome 11.0
49 chromosome 17p13.1 deletion syndrome 11.0
50 congenital muscular alpha-dystroglycanopathy with brain and eye anomalies 11.0

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ARX CDK5 CRADD DAG1 DCX FKRP
2 Increased transferrin (TF) endocytosis GR00363-A 9.73 CDK5 CRADD DAG1 DCX LRP8 NBN

MGI Mouse Phenotypes related to Lissencephaly:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.2 ARX CRADD DAG1 FKRP FKTN KATNB1
2 behavior/neurological MP:0005386 10.15 ARX CDK5 DAG1 DCX FKRP FKTN
3 growth/size/body region MP:0005378 10.07 ARX DAG1 DCX FKRP FKTN KATNB1
4 mortality/aging MP:0010768 10.03 ARX CDK5 CRADD DAG1 DCX FKRP
5 nervous system MP:0003631 9.83 ARX CDK5 DAG1 DCX FKRP FKTN
6 reproductive system MP:0005389 9.23 ARX DCX KATNB1 LRP8 NBN PAFAH1B1

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
3 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

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 30

Anatomical Context for Lissencephaly

MalaCards organs/tissues related to Lissencephaly:

42
Brain, Cortex, Eye, Testes, Liver, Heart, Cerebellum

Publications for Lissencephaly

Articles related to Lissencephaly:

(show top 50) (show all 373)
# Title Authors Year
1
Identification of a novel PAFAH1B1 missense mutation as a cause of mild lissencephaly with basal ganglia calcification. ( 30100227 )
2019
2
Perampanel in lissencephaly-associated epilepsy. ( 30723672 )
2019
3
Lissencephaly, cerebellar hypoplasia, and extrahepatic biliary atresia: An unusual association. ( 31047729 )
2019
4
TUBA1A mutations identified in lissencephaly patients dominantly disrupt neuronal migration and impair dynein activity. ( 30517687 )
2019
5
A unique case of lissencephaly with Crouzon syndrome heterozygous for FGFR2 mutation. ( 29067506 )
2018
6
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. ( 29671837 )
2018
7
Case Report of Proliferative Peripheral Retinopathy in Two Familial Lissencephaly Infants with Miller-Dieker Syndrome. ( 29707411 )
2018
8
Comprehensive genotype-phenotype correlation in lissencephaly. ( 30211035 )
2018
9
RAIDD mutations underlie the pathogenesis of thin lissencephaly (TLIS). ( 30281648 )
2018
10
Array comparative genomic hybridization characterization of a 3.3-Mb 17p13.3-p13.2 deletion encompassing YWHAE, CRK, HIC1 and PAFAH1B1 in an 8-year-old girl with Miller-Dieker lissencephaly syndrome, congenital heart defects, growth restriction and developmental delay. ( 30342670 )
2018
11
An in vitro model of lissencephaly: expanding the role of DCX during neurogenesis. ( 28924182 )
2018
12
1H, 13C and 15N chemical shift assignment of lissencephaly-1 homology (LisH) domain homodimer of human two-hybrid-associated protein 1 with RanBPM (Twa1). ( 29067546 )
2018
13
Hepatic loss of Lissencephaly 1 (Lis1) induces fatty liver and accelerates liver tumorigenesis in mice. ( 29475944 )
2018
14
Double cortex syndrome in a male patient without lissencephaly. ( 29530437 )
2018
15
X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease. ( 29152528 )
2017
16
Lissencephaly-pachygyria Masquerading as Leukodystrophy on Magnetic Resonance Imaging Brain. ( 28904573 )
2017
17
Recurrent KIF2A mutations are responsible for classic lissencephaly. ( 27747449 )
2017
18
A novel recurrent LIS1 splice site mutation in classic lissencephaly. ( 27891766 )
2017
19
Human iPSC-Derived Cerebral Organoids Model Cellular Features of Lissencephaly and Reveal Prolonged Mitosis of Outer Radial Glia. ( 28111201 )
2017
20
In utero MR imaging in fetuses at high risk of lissencephaly. ( 28134568 )
2017
21
Lissencephaly-1 is a context-dependent regulator of the human dynein complex. ( 28406398 )
2017
22
Lissencephaly: Expanded imaging and clinical classification. ( 28440899 )
2017
23
A Neonate with X-linked Lissencephaly with Ambiguous Genitalia. ( 28553390 )
2017
24
Differential effects of the dynein-regulatory factor Lissencephaly-1 on processive dynein-dynactin motility. ( 28576829 )
2017
25
Preferential Association of Lissencephaly-1 Gene Expression with CD133+ Glioblastoma Cells. ( 28607604 )
2017
26
Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly. ( 28686357 )
2017
27
Lissencephaly in a Pekingese. ( 28819088 )
2017
28
Lissencephaly-1 dependent axonal retrograde transport of L1-type CAM Neuroglian in the adult drosophila central nervous system. ( 28837701 )
2017
29
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
30
Prenatal diagnosis of cobblestone lissencephaly associated with Walker-Warburg syndrome based on a specific sonographic pattern. ( 26315758 )
2016
31
LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs. ( 26494205 )
2016
32
Reducing Lissencephaly-1 levels augments mitochondrial transport and has a protective effect in adult Drosophila neurons. ( 26598558 )
2016
33
Prenatal diagnosis of lissencephaly: A case report. ( 26964389 )
2016
34
Lissencephaly in an adult Australian Kelpie. ( 27021891 )
2016
35
Prenatal Diagnosis of Lissencephaly Type 2 using Three-dimensional Ultrasound and Fetal MRI: Case Report and Review of the Literature. ( 27088705 )
2016
36
In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations. ( 27431206 )
2016
37
The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL): Report of two additional patients. ( 27480277 )
2016
38
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. ( 27773428 )
2016
39
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. ( 27773430 )
2016
40
A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A. ( 27896282 )
2016
41
Visual Impairment Due to Lissencephaly. ( 27928411 )
2016
42
Lissencephaly with agenesis of corpus callosum: A rare anomaly. ( 28050101 )
2016
43
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. ( 25560765 )
2015
44
Erratum to: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. ( 25609191 )
2015
45
Response to correspondence on "lissencephaly with brainstem and cerebellar hypoplasia and congenital cataracts". ( 25805803 )
2015
46
Lissencephaly with brainstem and cerebellar hypoplasia and congenital cataracts. ( 23864587 )
2015
47
Watery diarrhea-hypopotassemia-acidosis syndrome like diarrhea in a case with X-linked lissencephaly with abnormal genitalia. ( 26129807 )
2015
48
Vitamin C Depletion in Prenatal Guinea Pigs as a Model of Lissencephaly Type II. ( 25487414 )
2015
49
A case of lissencephaly in a 5-month-old infant. ( 25612753 )
2015
50
Novel DCX mutation-caused lissencephaly in a boy and very mild heterotopia in his mother. ( 25868952 )
2015

Variations for Lissencephaly

ClinVar genetic disease variations for Lissencephaly:

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 NBN NM_002485.4(NBN): c.657_661delACAAA (p.Lys219Asnfs) deletion Pathogenic rs587776650 GRCh37 Chromosome 8, 90983442: 90983446
2 NBN NM_002485.4(NBN): c.657_661delACAAA (p.Lys219Asnfs) deletion Pathogenic rs587776650 GRCh38 Chromosome 8, 89971214: 89971218
3 TUBA3E NM_207312.2(TUBA3E): c.643C> T (p.Arg215Cys) single nucleotide variant Likely pathogenic rs730882212 GRCh38 Chromosome 2, 130194199: 130194199
4 TUBA3E NM_207312.2(TUBA3E): c.643C> T (p.Arg215Cys) single nucleotide variant Likely pathogenic rs730882212 GRCh37 Chromosome 2, 130951772: 130951772
5 CEP85L NM_001178035.1(CEP85L): c.191C> T (p.Ser64Phe) single nucleotide variant Uncertain significance rs1554234607 GRCh38 Chromosome 6, 118632503: 118632503
6 CEP85L NM_001178035.1(CEP85L): c.191C> T (p.Ser64Phe) single nucleotide variant Uncertain significance rs1554234607 GRCh37 Chromosome 6, 118953666: 118953666
7 subset of 27 genes:PAFAH1B1 GRCh37/hg19 17p13.3(chr17: 1361431-2573023) copy number loss Pathogenic GRCh37 Chromosome 17, 1361431: 2573023
8 CLUH; METTL16; PAFAH1B1; RAP1GAP2 GRCh37/hg19 17p13.3(chr17: 2339561-2826073) copy number loss Pathogenic GRCh37 Chromosome 17, 2339561: 2826073
9 subset of 18 genes:PAFAH1B1 GRCh37/hg19 17p13.3-13.2(chr17: 2339561-3447162) copy number loss Pathogenic GRCh37 Chromosome 17, 2339561: 3447162
10 MACF1 NM_012090.5(MACF1): c.14116G> C (p.Gly4706Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 39451086: 39451086
11 MACF1 NM_012090.5(MACF1): c.14116G> C (p.Gly4706Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 39916758: 39916758

Copy number variations for Lissencephaly from CNVD:

7
# CNVD ID Chromosom 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:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.72 CDK5 KATNB1 LRP8 PAFAH1B1 YWHAE
2 growth cone GO:0030426 9.65 CDK5 KATNB1 PAFAH1B1
3 cytoskeleton GO:0005856 9.61 CDK5 DAG1 DCX KATNB1 MACF1 NDE1
4 kinesin complex GO:0005871 9.54 NDE1 PAFAH1B1 YWHAE
5 microtubule associated complex GO:0005875 9.33 DCX LRP8 PAFAH1B1
6 central region of growth cone GO:0090724 9.26 PAFAH1B1 YWHAE
7 microtubule GO:0005874 9.23 CDK5 DCX KATNB1 MACF1 NDE1 NUDC
8 dystrophin-associated glycoprotein complex GO:0016010 9.16 DAG1
9 membrane GO:0016020 10.28 CDK5 DAG1 FKRP FKTN KATNB1 LRP8
10 cytosol GO:0005829 10.21 CDK5 CRADD DAG1 DCX FKRP KATNB1

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 9.99 CDK5 KATNB1 NDE1 NUDC PAFAH1B1 TUBA1A
2 cell migration GO:0016477 9.88 CDK5 NDE1 PAFAH1B1 RELN
3 nervous system development GO:0007399 9.87 ARX CDK5 DCX FKTN NDE1 PAFAH1B1
4 G2/M transition of mitotic cell cycle GO:0000086 9.84 NDE1 PAFAH1B1 TUBA1A YWHAE
5 ciliary basal body-plasma membrane docking GO:0097711 9.83 NDE1 PAFAH1B1 TUBA1A YWHAE
6 microtubule cytoskeleton organization GO:0000226 9.81 CDK5 PAFAH1B1 TUBA1A
7 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.78 NDE1 PAFAH1B1 TUBA1A YWHAE
8 forebrain development GO:0030900 9.76 ARX CDK5 NDE1 RELN
9 hippocampus development GO:0021766 9.73 CDK5 DCX PAFAH1B1 RELN
10 dendrite morphogenesis GO:0048813 9.72 CDK5 DCX VLDLR
11 positive regulation of dendritic spine morphogenesis GO:0061003 9.67 LRP8 PAFAH1B1 RELN
12 positive regulation of protein kinase activity GO:0045860 9.67 CDK5 DAG1 RELN VLDLR
13 establishment of mitotic spindle orientation GO:0000132 9.65 NDE1 PAFAH1B1
14 neuroblast proliferation GO:0007405 9.64 NDE1 PAFAH1B1
15 positive regulation of CREB transcription factor activity GO:0032793 9.64 LRP8 RELN
16 cellular response to cholesterol GO:0071397 9.63 DAG1 LRP8
17 protein localization to synapse GO:0035418 9.62 CDK5 RELN
18 vesicle transport along microtubule GO:0047496 9.62 NDE1 PAFAH1B1
19 positive regulation of dendrite development GO:1900006 9.61 LRP8 VLDLR
20 microtubule organizing center organization GO:0031023 9.61 NDE1 PAFAH1B1
21 Schwann cell development GO:0014044 9.6 CDK5 DAG1
22 ventral spinal cord development GO:0021517 9.59 RELN VLDLR
23 regulation of microtubule motor activity GO:2000574 9.58 NDE1 PAFAH1B1
24 protein O-linked mannosylation GO:0035269 9.58 FKRP FKTN RXYLT1
25 cerebral cortex tangential migration GO:0021800 9.56 ARX RELN
26 cerebral cortex development GO:0021987 9.55 CDK5 LRP8 NDE1 PAFAH1B1 RELN
27 reelin-mediated signaling pathway GO:0038026 9.43 LRP8 RELN VLDLR
28 layer formation in cerebral cortex GO:0021819 9.26 CDK5 DCX PAFAH1B1 RELN
29 neuron migration GO:0001764 9.1 ARX CDK5 DCX NDE1 PAFAH1B1 RELN
30 multicellular organism development GO:0007275 10.13 ARX DCX NDE1 NUDC PAFAH1B1 RELN
31 cell cycle GO:0007049 10.04 CDK5 KATNB1 NBN NDE1 NUDC PAFAH1B1

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

# Name GO ID Score Top Affiliating Genes
1 dynein complex binding GO:0070840 9.43 KATNB1 PAFAH1B1
2 apolipoprotein binding GO:0034185 9.37 LRP8 VLDLR
3 low-density lipoprotein particle receptor activity GO:0005041 9.32 LRP8 VLDLR
4 dystroglycan binding GO:0002162 9.26 DAG1 FKRP
5 very-low-density lipoprotein particle receptor activity GO:0030229 9.16 LRP8 VLDLR
6 microtubule binding GO:0008017 9.1 CDK5 DCX KATNB1 MACF1 NDE1 PAFAH1B1
7 reelin receptor activity GO:0038025 8.96 LRP8 VLDLR
8 protein binding GO:0005515 10.31 CDK5 CRADD DAG1 DCX FKTN KATNB1

Sources for Lissencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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