MCID: LSS002
MIFTS: 48

Lissencephaly malady

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

Aliases & Classifications for Lissencephaly

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Summaries for Lissencephaly

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NINDS:46 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 lissencephaly 2. An important gene associated with Lissencephaly is PAFAH1B1 (Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1), and among its related pathways are Guidance Cues and Growth Cone Motility and Reelin Pathway (Cajal-Retzius cells). Affiliated tissues include brain, cortex and breast, and related mouse phenotypes are behavior/neurological and reproductive system.

Disease Ontology:10 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:68 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
Lissencephaly Due to Tuba1a Mutation Lissencephaly Type 1 Due to Doublecortin Gene Mutation
Lissencephaly Due to Lis1 Mutation

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

(show top 50)    (show all 303)
idRelated DiseaseScoreTop Affiliating Genes
1lissencephaly 132.7FKTN, NDE1, PAFAH1B1, PAFAH1B2, PAFAH1B3, YWHAE
2lissencephaly 212.6
3x-linked lissencephaly with abnormal genitalia12.6
4miller-dieker lissencephaly syndrome12.5
5lissencephaly, x-linked12.5
6isolated 17-linked lissencephaly12.5
7lissencephaly 412.5
8lissencephaly 312.4
9lissencephaly with cerebellar hypoplasia12.4
10lissencephaly 512.4
11lissencephaly, x-linked 212.4
12lissencephaly 6, with microcephaly12.4
13lissencephaly 7 with cerebellar hypoplasia12.4
14lis1-associated lissencephaly/subcortical band heterotopia12.3
15cobblestone lissencephaly without muscular or ocular involvement12.3
16partial lissencephaly12.2
17cobblestone lissencephaly12.2
18lissencephaly type 1 due to doublecortin gene mutation12.2
19lissencephaly due to lis1 mutation12.2
20lissencephaly, isolated12.1
21dcx-related lissencephaly12.1
22lissencephaly due to tuba1a mutation12.1
23isolated lissencephaly type 1 without known genetic defects12.1
24lissencephaly type 3-familial fetal akinesia sequence syndrome12.1
25lissencephaly type 3-metacarpal bone dysplasia syndrome12.1
26lissencephaly with cerebellar hypoplasia type f12.1
27lissencephaly with cerebellar hypoplasia type e12.1
28lissencephaly with cerebellar hypoplasia type b12.1
29lissencephaly with cerebellar hypoplasia type a12.1
30lissencephaly with cerebellar hypoplasia type d12.1
31lissencephaly with cerebellar hypoplasia type c12.1
32microlissencephaly i11.3
33chromosome 17p13.1 deletion syndrome11.2
34dcx-related disorders11.2
35congenital muscular alpha-dystroglycanopathy with brain and eye anomalies11.2
36massa casaer ceulemans syndrome11.2
37dfna2 nonsyndromic hearing loss10.4DCX, PAFAH1B1
38hepatitis10.3
39epilepsy, familial temporal lobe, 710.3PAFAH1B1, RELN
40premature ovarian failure 810.3PAFAH1B1, RELN
41neu-laxova syndrome110.3
42baraitser-winter syndrome 110.3
43muscular dystrophy-dystroglycanopathy , type a, 110.3
44muscular dystrophy-dystroglycanopathy , type a, 1010.3
45tn polyagglutination syndrome, somatic10.3ARX, DCX, PAFAH1B1
46isolated aniridia10.3DCX, PAFAH1B1, RELN
47prostatitis10.3
48endotheliitis10.3
49hyperphosphatemia10.2DCX, PAFAH1B1, RELN
50leukemia10.2

Graphical network of the top 20 diseases related to Lissencephaly:



Diseases related to lissencephaly

Symptoms for Lissencephaly

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Drugs & Therapeutics for Lissencephaly

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Human Epilepsy Genetics--Neuronal Migration Disorders StudyRecruitingNCT00041600
2Clinical-genetic Investigations in Children With Early Infantile EpilepsiesRecruitingNCT01357707
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 Lissencephaly22

Anatomical Context for Lissencephaly

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MalaCards organs/tissues related to Lissencephaly:

33
Brain, Cortex, Breast, Bone, T cells, Heart, B cells

Animal Models for Lissencephaly or affiliated genes

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MGI Mouse Phenotypes related to Lissencephaly:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.8ARX, CDK5, DCX, FKRP, FKTN, LRP8
2MP:00053896.9ARX, DCX, KATNB1, LRP8, PAFAH1B1, PAFAH1B2
3MP:00107686.7ARX, CDK5, DCX, FKRP, FKTN, ISPD
4MP:00036316.6ARX, CDK5, DCX, FKRP, FKTN, ISPD
5MP:00053845.1ARX, FKRP, FKTN, ISPD, KATNB1, LRP8

Publications for Lissencephaly

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Articles related to Lissencephaly:

(show top 50)    (show all 318)
idTitleAuthorsYear
1
Life Expectancy of People with Fetal Alcohol Syndrome. (26962962)
2016
2
Desmoid Tumor of the Popliteal Fossa during Pregnancy. (25734019)
2015
3
Genome Sequencing of 10 Helicobacter pylori Pediatric Strains from Patients with Nonulcer Dyspepsia and Peptic Ulcer Disease. (25657274)
2015
4
A Case of Slipped Capital Femoral Epiphysis in Association With Craniopharyngioma. (26543843)
2015
5
Is there an effect of obstructive sleep apnea syndrome on oxidative stress and inflammatory parameters in patients with craniofacial anomalies? (24220372)
2013
6
Angiocentric glioma: clinical, morphological, immunohistochemical and molecular features in three pediatric cases. (23073165)
2013
7
Patient awareness of binocular central scotoma in age-related macular degeneration. (22863789)
2012
8
CD40 stimulates a "feed-forward" NF-I_B-driven molecular pathway that regulates IFN-I^ expression in carcinoma cells. (22547704)
2012
9
A case of central cord syndrome related status epilepticus - a case report -. (22506176)
2011
10
Human PrP90-231-induced cell death is associated with intracellular accumulation of insoluble and protease-resistant macroaggregates and lysosomal dysfunction. (21451573)
2011
11
A naive-like population of human CD1d-restricted T cells expressing intermediate levels of promyelocytic leukemia zinc finger. (21632718)
2011
12
The autoimmune regulator (AIRE), which is defective in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients, is expressed in human epidermal and follicular keratinocytes and associates with the intermediate filament protein cytokeratin 17. (21356351)
2011
13
FGFR3 mutations indicate better survival in invasive upper urinary tract and bladder tumours. (18584939)
2009
14
A case report: gastric adenocarcinoma in childhood. (20112606)
2009
15
Pegaptanib sodium for neovascular age-related macular degeneration: clinical experience in the UK. (19668726)
2008
16
Further delineation of the continuous human neoplastic enterochromaffin cell line, KRJ-I, and the inhibitory effects of lanreotide and rapamycin. (17242179)
2007
17
MEKK3 is essential for lipopolysaccharide-induced interleukin-6 and granulocyte-macrophage colony-stimulating factor production in macrophages. (17116170)
2007
18
Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4. (16761293)
2006
19
Molecular targets of organotin compounds in endocrine disruption: do organotin compounds function as aromatase inhibitors in mammals? (16788560)
2006
20
Cerebral listeriosis in an adult Freiberger gelding. (16542674)
2006
21
Targeting prostate cancer with radiolabelled bombesins. (17098646)
2006
22
Efficacy of famciclovir in the treatment of oral hairy leukoplakia. (16433817)
2006
23
Molecular cloning and characterization of a novel muscle adenylosuccinate synthetase, AdSSL1, from human bone marrow stromal cells. (15786719)
2005
24
Human mAChR antibodies from SjAPgren syndrome sera increase cerebral nitric oxide synthase activity and nitric oxide synthase mRNA level. (15451477)
2004
25
Differential involvement of neurotransmitters through the time course of cisplatin-induced emesis as revealed by therapy with specific receptor antagonists. (12736106)
2003
26
Keratopathy in congenital aniridia. (17075635)
2003
27
Ganglioneuroblastic differentiation in a primary cutaneous malignant melanoma. (12544099)
2003
28
Complexity of inflammatory responses in endothelial cells and vascular smooth muscle cells determined by microarray analysis. (12538156)
2002
29
Distant metastases from lip and oral cavity cancer. (11408816)
2001
30
Interferon-alpha2a effects on complement activation and regulation in MS patients. (10660149)
2000
31
Immortalized human corneal epithelial cells for ocular toxicity and inflammation studies. (10235542)
1999
32
Characterization of monomeric and homodimeric forms of osteoclastogenesis inhibitory factor. (9571159)
1998
33
The molecular basis of viral oncolysis: usurpation of the Ras signaling pathway by reovirus. (9628872)
1998
34
Herpes simplex virus 1 alpha regulatory protein ICP0 interacts with and stabilizes the cell cycle regulator cyclin D3. (9311810)
1997
35
Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity. (8617513)
1996
36
Gas bloat syndrome: a pre- or postoperative dysmotility syndrome? (7661191)
1995
37
Estrogen receptor mutants which do not bind 17 beta-estradiol dimerize and bind to the estrogen response element in vivo. (7659089)
1995
38
Expression of 2 variant forms of fibroblast growth factor receptor 1 in human breast. (7657392)
1995
39
Differences between the sugar moieties of liver- and bone-type alkaline phosphatases: a re-evaluation. (8154849)
1994
40
Purification and partial identification of bone-inducing protein from a murine osteosarcoma. (1320380)
1992
41
Structure and expression of the cDNA encoding human neutrophil collagenase. (1646048)
1991
42
The efficacy of preoperative computed tomography in patients with colorectal carcinoma. (2350106)
1990
43
Associations among progesterone, estradiol-17 beta, oxytocin and prostaglandin in cattle treated with hCG during diestrus to extend corpus luteum function. (2389060)
1990
44
Localization of the human gene for the El alpha subunit of branched chain keto acid dehydrogenase (BCKDHA) to chromosome 19q13.1----q13.2. (2805821)
1989
45
Meyerson's naevi in pityriasis rosea. (2923801)
1989
46
Thyroid lymphoma. (2804581)
1989
47
Causalgia. (20270995)
1947
48
49
50

Variations for Lissencephaly

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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
1Golgi membraneGO:00001399.5FKRP, FKTN, TMEM5
2dendriteGO:00304259.2CDK5, DCX, LRP8, RELN

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1microtubule-based processGO:000701710.5PAFAH1B1, TUBA1A
2establishment of mitotic spindle orientationGO:000013210.4NDE1, PAFAH1B1
3positive regulation of protein kinase activityGO:004586010.4CDK5, RELN
4positive regulation of dendritic spine morphogenesisGO:006100310.3PAFAH1B1, RELN
5forebrain developmentGO:003090010.2CDK5, NDE1, RELN
6layer formation in cerebral cortexGO:002181910.1PAFAH1B1, RELN
7cerebral cortex developmentGO:002198710.0LRP8, RELN
8mitotic cell cycleGO:00002789.6NDE1, PAFAH1B1, TUBA1A, YWHAE
9reelin-mediated signaling pathwayGO:00380269.4LRP8, RELN
10organelle organizationGO:00069969.4NDE1, PAFAH1B1, TUBA1A, YWHAE
11neuron migrationGO:00017649.4ARX, CDK5, DCX, NDE1, RELN
12cell divisionGO:00513019.3CDK5, NDE1, NUDC, TUBA1A
13axon guidanceGO:00074119.2ARX, DCX, ISPD, RELN

Sources for Lissencephaly

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet