MCID: LSS002
MIFTS: 49

Lissencephaly malady

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

Aliases & Classifications for Lissencephaly

Summaries for Lissencephaly

NINDS : 51 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.

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/superpathways are Neuroscience and Acyl chain remodelling of PE. Affiliated tissues include brain, cortex and testes, and related phenotypes are cellular and behavior/neurological

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.

Wikipedia : 71 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 5
Lissencephaly 3 Lissencephaly 4
Lissencephaly 1 Dcx-Related Lissencephaly
Lissencephaly 8

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

(show top 50) (show all 126)
id Related Disease Score Top Affiliating Genes
1 lissencephaly 1 12.3
2 miller-dieker lissencephaly syndrome 12.3
3 x-linked lissencephaly with abnormal genitalia 12.2
4 lissencephaly 2 12.2
5 lissencephaly with cerebellar hypoplasia 12.1
6 lissencephaly, x-linked 12.1
7 lissencephaly, x-linked 2 12.1
8 lissencephaly 4 12.1
9 lissencephaly 5 12.1
10 isolated 17-linked lissencephaly 12.1
11 lissencephaly 3 12.0
12 lissencephaly 6, with microcephaly 12.0
13 lissencephaly 7 with cerebellar hypoplasia 12.0
14 lissencephaly 8 11.9
15 lis1-associated lissencephaly/subcortical band heterotopia 11.9
16 cobblestone lissencephaly 11.8
17 lissencephaly type iii and bone dysplasia 11.7
18 isolated lissencephaly type 1 without known genetic defects 11.6
19 lissencephaly type 3-familial fetal akinesia sequence syndrome 11.6
20 lissencephaly with cerebellar hypoplasia type f 11.6
21 lissencephaly with cerebellar hypoplasia type e 11.6
22 lissencephaly with cerebellar hypoplasia type b 11.6
23 lissencephaly with cerebellar hypoplasia type a 11.6
24 lissencephaly with cerebellar hypoplasia type d 11.6
25 lissencephaly with cerebellar hypoplasia type c 11.6
26 dcx-related lissencephaly 11.6
27 mental retardation, autosomal recessive 34 11.2
28 walker-warburg syndrome 11.1
29 band heterotopia 11.1
30 pachygyria 11.0
31 colpocephaly 11.0
32 neuronal migration disorders 11.0
33 microlissencephaly i 10.8
34 muscular dystrophy-dystroglycanopathy , type a, 1 10.8
35 neu-laxova syndrome1 10.8
36 muscular dystrophy-dystroglycanopathy , type a, 10 10.8
37 baraitser-winter syndrome 1 10.8
38 chromosome 17p13.1 deletion syndrome 10.7
39 congenital muscular alpha-dystroglycanopathy with brain and eye anomalies 10.7
40 massa casaer ceulemans syndrome 10.7
41 dcx-related disorders 10.7
42 baraitser-winter syndrome 2 10.6
43 muscular dystrophy-dystroglycanopathy , type a, 12 10.6
44 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 10.6
45 neu-laxova syndrome 2 10.6
46 muscular dystrophy-dystroglycanopathy , type a, 5 10.6
47 muscular dystrophy-dystroglycanopathy , type a, 4 10.6
48 muscular dystrophy-dystroglycanopathy , type a, 6 10.6
49 muscular dystrophy-dystroglycanopathy , type a, 3 10.6
50 epileptic encephalopathy, early infantile, 1 10.6

Graphical network of the top 20 diseases related to Lissencephaly:



Diseases related to Lissencephaly

Symptoms & Phenotypes for Lissencephaly

MGI Mouse Phenotypes related to Lissencephaly:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.93 PAFAH1B2 PAFAH1B3 RELN TMTC3 TUBA1A VLDLR
2 behavior/neurological MP:0005386 9.91 DAB1 DCX LRP8 PAFAH1B1 RELN TUBA1A
3 nervous system MP:0003631 9.7 ARX CDK5 DAB1 DCX LRP8 NDE1
4 reproductive system MP:0005389 9.28 ARX DAB1 DCX LRP8 PAFAH1B1 PAFAH1B2

Drugs & Therapeutics for Lissencephaly

Interventional clinical trials:


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

id Genetic test Affiliating Genes
1 Lissencephaly 29 24

Anatomical Context for Lissencephaly

MalaCards organs/tissues related to Lissencephaly:

39
Brain, Cortex, Testes, Eye, Cerebellum, T Cells, Hypothalamus

Publications for Lissencephaly

Articles related to Lissencephaly:

(show top 50) (show all 333)
id Title Authors Year
1
A novel recurrent LIS1 splice site mutation in classic lissencephaly. ( 27891766 )
2017
2
In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations. ( 27431206 )
2016
3
Lissencephaly in an adult Australian Kelpie. ( 27021891 )
2016
4
A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A. ( 27896282 )
2016
5
Visual Impairment Due to Lissencephaly. ( 27928411 )
2016
6
Prenatal Diagnosis of Lissencephaly Type 2 using Three-dimensional Ultrasound and Fetal MRI: Case Report and Review of the Literature. ( 27088705 )
2016
7
EP02.04: Prenatal ultrasound diagnosis of lissencephaly in the second trimester of gestation. ( 27644224 )
2016
8
Prenatal diagnosis of lissencephaly: A case report. ( 26964389 )
2016
9
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. ( 27773428 )
2016
10
Recurrent KIF2A mutations are responsible for classic lissencephaly. ( 27747449 )
2016
11
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
12
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. ( 27773430 )
2016
13
Lissencephaly with agenesis of corpus callosum: A rare anomaly. ( 28050101 )
2016
14
The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL): Report of two additional patients. ( 27480277 )
2016
15
Erratum to: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. ( 25609191 )
2015
16
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. ( 25560765 )
2015
17
A case of lissencephaly in a 5-month-old infant. ( 25612753 )
2015
18
Watery diarrhea-hypopotassemia-acidosis syndrome like diarrhea in a case with X-linked lissencephaly with abnormal genitalia. ( 26129807 )
2015
19
Clinical Images: Postterm Newborn with Lissencephaly Presented with Seizure: Case Report and Review of Literature. ( 26130973 )
2015
20
LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs. ( 26494205 )
2015
21
Response to Correspondence on "Lissencephaly With Brainstem and Cerebellar Hypoplasia and Congenital Cataracts". ( 25805803 )
2015
22
Prenatal imaging diagnosis of cobblestone lissencephaly associated with Walker Warburg syndrome based on a specific sonographic pattern. ( 26315758 )
2015
23
Novel DCX mutation-caused lissencephaly in a boy and very mild heterotopia in his mother. ( 25868952 )
2015
24
Type 1 lissencephaly and multiple afebrile seizures in a 2-month-old baby. ( 26167213 )
2015
25
Characterization of intragenic tandem duplication in the PAFAH1B1 gene leading to isolated lissencephaly sequence. ( 26523152 )
2015
26
A de novo microdeletion involving PAFAH1B (LIS1) related to lissencephaly phenotype. ( 26958590 )
2015
27
CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly. ( 26188257 )
2015
28
A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease. ( 23528852 )
2014
29
The genetics of lissencephaly. ( 24862549 )
2014
30
miRNA-based buffering of the cobblestone-lissencephaly-associated extracellular matrix receptor dystroglycan via its alternative 3'-UTR. ( 25232965 )
2014
31
DTI tractography of lissencephaly caused by TUBA1A mutation. ( 24510153 )
2014
32
Vitamin C Depletion in Prenatal Guinea Pigs as a Model of Lissencephaly Type II. ( 25487414 )
2014
33
Lissencephaly with subcortical band heterotopia in an Indian family. ( 24493317 )
2014
34
Cytoskeleton in action: lissencephaly, a neuronal migration disorder. ( 23495356 )
2013
35
Prenatal diagnosis of ring chromosome 2 with lissencephaly and 2p25.3 and 2q37.3 microdeletions detected using array comparative genomic hybridization. ( 23403238 )
2013
36
Lissencephaly With Brainstem and Cerebellar Hypoplasia and Congenital Cataracts. ( 23625088 )
2013
37
EEG and neuroimaging correlations in children with lissencephaly. ( 23298604 )
2013
38
Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation. ( 22633752 )
2013
39
Cobblestone lissencephaly in Schinzel-Giedion syndrome. ( 22532548 )
2013
40
A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly. ( 23633430 )
2013
41
Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs. ( 23938146 )
2013
42
Post-natal treatment by a blood-brain-barrier permeable calpain inhibitor, SNJ1945 rescued defective function in lissencephaly. ( 23390575 )
2013
43
Identification of DCX gene mutation in lissencephaly spectrum with subcortical band heterotopia using whole exome sequencing. ( 23583063 )
2013
44
Lissencephaly presenting with congenital hypothyroidism. ( 23751382 )
2013
45
Genotype and MRI phenotype in classical lissencephaly. ( 23428243 )
2013
46
A case of schizophrenia accompanied by lissencephaly. ( 24247873 )
2013
47
Identification of a 31-bp deletion in the RELN gene causing lissencephaly with cerebellar hypoplasia in sheep. ( 24260534 )
2013
48
New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum. ( 23365099 )
2013
49
A case of cecal volvulus presenting with chronic constipation in lissencephaly. ( 24010118 )
2013
50
Lissencephaly With Brainstem and Cerebellar Hypoplasia and Congenital Cataracts. ( 23864587 )
2013

Variations for Lissencephaly

ClinVar genetic disease variations for Lissencephaly:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NBN NM_002485.4(NBN): c.657_661delACAAA (p.Lys219Asnfs) deletion Pathogenic,risk factor rs587776650 GRCh37 Chromosome 8, 90983442: 90983446

Copy number variations for Lissencephaly from CNVD:

7
id 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:

id Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.85 CDK5 DCX NDE1 NUDC PAFAH1B1 TUBA1A
2 neuronal cell body GO:0043025 9.62 CDK5 DAB1 LRP8 PAFAH1B1
3 axon GO:0030424 9.56 CDK5 LRP8 PAFAH1B1 YWHAE
4 microtubule GO:0005874 9.35 DCX NDE1 NUDC PAFAH1B1 TUBA1A
5 central region of growth cone GO:0090724 9.16 PAFAH1B1 YWHAE
6 microtubule associated complex GO:0005875 8.8 DCX LRP8 PAFAH1B1

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

(show all 36)
id Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.92 ARX CDK5 DAB1 DCX NDE1 PAFAH1B1
2 axon guidance GO:0007411 9.91 ARX DAB1 RELN VLDLR
3 brain development GO:0007420 9.91 DAB1 DCX PAFAH1B1 PAFAH1B2 PAFAH1B3 RELN
4 G2/M transition of mitotic cell cycle GO:0000086 9.87 NDE1 PAFAH1B1 TUBA1A YWHAE
5 lipid catabolic process GO:0016042 9.85 PAFAH1B1 PAFAH1B2 PAFAH1B3 PLA2G7
6 sister chromatid cohesion GO:0007062 9.81 NDE1 NUDC PAFAH1B1
7 ciliary basal body docking GO:0097711 9.81 NDE1 PAFAH1B1 TUBA1A YWHAE
8 forebrain development GO:0030900 9.78 ARX CDK5 NDE1 RELN
9 positive regulation of protein kinase activity GO:0045860 9.76 CDK5 DAB1 RELN VLDLR
10 dendrite morphogenesis GO:0048813 9.75 CDK5 DCX VLDLR
11 positive regulation of protein tyrosine kinase activity GO:0061098 9.67 LRP8 RELN
12 associative learning GO:0008306 9.67 CDK5 RELN
13 positive regulation of dendritic spine morphogenesis GO:0061003 9.67 LRP8 PAFAH1B1 RELN
14 dendrite development GO:0016358 9.66 DAB1 RELN
15 axon extension GO:0048675 9.66 CDK5 DCX
16 modulation of synaptic transmission GO:0050804 9.65 LRP8 RELN
17 establishment of mitotic spindle orientation GO:0000132 9.65 NDE1 PAFAH1B1
18 neuroblast proliferation GO:0007405 9.65 NDE1 PAFAH1B1
19 hippocampus development GO:0021766 9.65 CDK5 DCX PAFAH1B1 RELN YWHAE
20 positive regulation of CREB transcription factor activity GO:0032793 9.64 LRP8 RELN
21 positive regulation of dendrite development GO:1900006 9.64 LRP8 VLDLR
22 protein localization to synapse GO:0035418 9.63 CDK5 RELN
23 vesicle transport along microtubule GO:0047496 9.62 NDE1 PAFAH1B1
24 microtubule organizing center organization GO:0031023 9.62 NDE1 PAFAH1B1
25 regulation of microtubule motor activity GO:2000574 9.59 NDE1 PAFAH1B1
26 cerebral cortex tangential migration GO:0021800 9.58 ARX RELN
27 ventral spinal cord development GO:0021517 9.58 DAB1 RELN VLDLR
28 lateral motor column neuron migration GO:0097477 9.56 DAB1 RELN
29 reelin-mediated signaling pathway GO:0038026 9.54 LRP8 RELN VLDLR
30 platelet activating factor metabolic process GO:0046469 9.52 PAFAH1B1 PLA2G7
31 neuron migration GO:0001764 9.5 ARX CDK5 DCX NDE1 PAFAH1B1 RELN
32 layer formation in cerebral cortex GO:0021819 9.46 CDK5 DCX PAFAH1B1 RELN
33 cerebral cortex development GO:0021987 9.17 CDK5 DAB1 LRP8 NDE1 PAFAH1B1 RELN
34 multicellular organism development GO:0007275 10.15 ARX DAB1 DCX NDE1 NUDC PAFAH1B1
35 lipid metabolic process GO:0006629 10.01 LRP8 PAFAH1B1 PAFAH1B2 PAFAH1B3 PLA2G7 VLDLR
36 cell division GO:0051301 10 CDK5 NDE1 NUDC PAFAH1B1 TUBA1A

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

id Name GO ID Score Top Affiliating Genes
1 phospholipase A2 activity GO:0004623 9.43 PAFAH1B1 PAFAH1B2 PAFAH1B3
2 apolipoprotein binding GO:0034185 9.4 LRP8 VLDLR
3 low-density lipoprotein receptor activity GO:0005041 9.37 LRP8 VLDLR
4 very-low-density lipoprotein particle receptor activity GO:0030229 9.32 LRP8 VLDLR
5 reelin receptor activity GO:0038025 9.16 LRP8 VLDLR
6 platelet-activating factor acetyltransferase activity GO:0047179 8.96 PAFAH1B2 PAFAH1B3
7 1-alkyl-2-acetylglycerophosphocholine esterase activity GO:0003847 8.8 PAFAH1B2 PAFAH1B3 PLA2G7

Sources for Lissencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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