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.  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 are Neuroscience and COPI-independent Golgi-to-ER retrograde traffic. Affiliated tissues include brain, cortex and testes, and related mouse phenotypes are behavior/neurological and nervous 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 is a set of rare brain disorders where the whole or parts of the surface of the brain... 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 8

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 with cerebellar hypoplasia12.1
6lissencephaly, x-linked12.1
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
14lissencephaly 811.9
15lis1-associated lissencephaly/subcortical band heterotopia11.9
16cobblestone lissencephaly11.8
17lissencephaly type iii and bone dysplasia11.7
18dcx-related lissencephaly11.6
19isolated lissencephaly type 1 without known genetic defects11.6
20lissencephaly type 3-familial fetal akinesia sequence syndrome11.6
21lissencephaly with cerebellar hypoplasia type f11.6
22lissencephaly with cerebellar hypoplasia type e11.6
23lissencephaly with cerebellar hypoplasia type b11.6
24lissencephaly with cerebellar hypoplasia type a11.6
25lissencephaly with cerebellar hypoplasia type d11.6
26lissencephaly with cerebellar hypoplasia type c11.6
27mental retardation, autosomal recessive 3411.2
28walker-warburg syndrome11.1
29band heterotopia11.1
30pachygyria11.0
31colpocephaly11.0
32neuronal migration disorders11.0
33microlissencephaly i10.8
34neu-laxova syndrome110.8
35baraitser-winter syndrome 110.8
36muscular dystrophy-dystroglycanopathy , type a, 110.8
37muscular dystrophy-dystroglycanopathy , type a, 1010.8
38chromosome 17p13.1 deletion syndrome10.7
39dcx-related disorders10.7
40congenital muscular alpha-dystroglycanopathy with brain and eye anomalies10.7
41massa casaer ceulemans syndrome10.7
42muscular dystrophy-dystroglycanopathy , type a, 310.6
43muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1110.6
44muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 810.6
45muscular dystrophy-dystroglycanopathy , type a, 910.6
46muscular dystrophy-dystroglycanopathy , type a, 710.6
47muscular dystrophy-dystroglycanopathy , type a, 1210.6
48neu-laxova syndrome 210.6
49muscular dystrophy-dystroglycanopathy , type a, 410.6
50muscular dystrophy-dystroglycanopathy , type a, 1310.6

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:00053868.6ARX, CDK5, DAB1, DCX, LRP8, PAFAH1B1
2MP:00036317.9ARX, CDK5, DAB1, DCX, LRP8, NDE1
3MP:00053897.1ARX, DAB1, DCX, LRP8, PAFAH1B1, PAFAH1B2
4MP:00053846.9ARX, DAB1, LRP8, NDE1, PAFAH1B1, PAFAH1B2

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, Testes, Eye, Cerebellum, T cells, Hypothalamus

Publications for Lissencephaly

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Articles related to Lissencephaly:

(show top 50)    (show all 333)
idTitleAuthorsYear
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

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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
1central region of growth coneGO:009072410.7PAFAH1B1, YWHAE
2microtubule associated complexGO:000587510.3DCX, LRP8, PAFAH1B1
3axonGO:003042410.0CDK5, LRP8, PAFAH1B1, YWHAE
4microtubuleGO:00058749.9DCX, NDE1, NUDC, PAFAH1B1, TUBA1A
5cytoskeletonGO:00058569.7CDK5, DCX, NDE1, NUDC, PAFAH1B1, TUBA1A
6neuronal cell bodyGO:00430259.1CDK5, DAB1, LRP8, PAFAH1B1

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

(show all 36)
idNameGO IDScoreTop Affiliating Genes
1axon extensionGO:004867510.8CDK5, DCX
2establishment of mitotic spindle orientationGO:000013210.8NDE1, PAFAH1B1
3associative learningGO:000830610.8CDK5, RELN
4microtubule organizing center organizationGO:003102310.7NDE1, PAFAH1B1
5cerebral cortex tangential migrationGO:002180010.7ARX, RELN
6neuroblast proliferationGO:000740510.6NDE1, PAFAH1B1
7modulation of synaptic transmissionGO:005080410.6LRP8, RELN
8regulation of microtubule motor activityGO:200057410.5NDE1, PAFAH1B1
9protein localization to synapseGO:003541810.5CDK5, RELN
10dendrite developmentGO:001635810.5DAB1, RELN
11lateral motor column neuron migrationGO:009747710.5DAB1, RELN
12positive regulation of CREB transcription factor activityGO:003279310.5LRP8, RELN
13dendrite morphogenesisGO:004881310.4CDK5, DCX, VLDLR
14positive regulation of protein tyrosine kinase activityGO:006109810.4LRP8, RELN
15positive regulation of dendrite developmentGO:190000610.4LRP8, VLDLR
16layer formation in cerebral cortexGO:002181910.3CDK5, DCX, PAFAH1B1, RELN
17positive regulation of dendritic spine morphogenesisGO:006100310.2LRP8, PAFAH1B1, RELN
18forebrain developmentGO:003090010.2ARX, CDK5, NDE1, RELN
19ciliary basal body dockingGO:009771110.2NDE1, PAFAH1B1, TUBA1A, YWHAE
20G2/M transition of mitotic cell cycleGO:000008610.2NDE1, PAFAH1B1, TUBA1A, YWHAE
21reelin-mediated signaling pathwayGO:003802610.1LRP8, RELN, VLDLR
22platelet activating factor metabolic processGO:004646910.1PAFAH1B1, PLA2G7
23sister chromatid cohesionGO:000706210.0NDE1, NUDC, PAFAH1B1
24vesicle transport along microtubuleGO:004749610.0NDE1, PAFAH1B1
25cell divisionGO:005130110.0CDK5, NDE1, NUDC, PAFAH1B1, TUBA1A
26hippocampus developmentGO:002176610.0CDK5, DCX, PAFAH1B1, RELN, YWHAE
27axon guidanceGO:00074119.9ARX, DAB1, RELN, VLDLR
28positive regulation of protein kinase activityGO:00458609.7CDK5, DAB1, RELN, VLDLR
29ventral spinal cord developmentGO:00215179.7DAB1, RELN, VLDLR
30neuron migrationGO:00017649.3ARX, CDK5, DCX, NDE1, PAFAH1B1, RELN
31multicellular organism developmentGO:00072759.1ARX, DAB1, DCX, NDE1, NUDC, PAFAH1B1
32lipid catabolic processGO:00160429.1PAFAH1B1, PAFAH1B2, PAFAH1B3, PLA2G7
33cerebral cortex developmentGO:00219879.0CDK5, DAB1, LRP8, NDE1, PAFAH1B1, RELN
34brain developmentGO:00074208.9DAB1, DCX, PAFAH1B1, PAFAH1B2, PAFAH1B3, RELN
35nervous system developmentGO:00073998.4ARX, CDK5, DAB1, DCX, NDE1, PAFAH1B1
36lipid metabolic processGO:00066298.3LRP8, PAFAH1B1, PAFAH1B2, PAFAH1B3, PLA2G7, VLDLR

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein bindingGO:003418510.2LRP8, VLDLR
2low-density lipoprotein receptor activityGO:000504110.2LRP8, VLDLR
3reelin receptor activityGO:00380259.8LRP8, VLDLR
4very-low-density lipoprotein particle receptor activityGO:00302299.8LRP8, VLDLR
5platelet-activating factor acetyltransferase activityGO:00471799.5PAFAH1B2, PAFAH1B3
6phospholipase A2 activityGO:00046239.3PAFAH1B1, PAFAH1B2, PAFAH1B3
71-alkyl-2-acetylglycerophosphocholine esterase activityGO:00038479.0PAFAH1B2, PAFAH1B3, PLA2G7

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