Disease: Classical Lissencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease UNIPROT Classical lissencephaly is a disorder of neuroblast migration with most patients having mutations of either the LIS1 or DCX genes. 11502906 2001
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Direct DNA sequencing of LIS1 and XLIS was performed in 25 children with sporadic LIS and no deletion of LIS1 by fluorescence in situ hybridization. 9817918 1998
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Mutations of PAFAH1B1 cause classical lissencephaly in humans. 28836069 2017
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease UNIPROT A 1385A-->C mutation was found in the LIS1 gene in one patient with LIS more severe than expected for individuals with missense mutations in LIS1. 15007136 2004
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE We report three mutations in exon 11, including a frameshift which extends the LIS1 protein, leading to type 1 lissencephaly and illustrating the functional importance of the WD domains at the C terminus. 17664403 2007
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1). 11754098 2002
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease CLINVAR The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. 11115846 2000
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Classical lissencephaly has been shown to result from mutations in LIS1 (PAFAH1B1; MIM#601545), DCX (Doublecortin; MIM#300121), ARX (Aristaless-related homeobox gene; MIM#300382), RELN (Reelin; MIM#600514) and VLDLR (Very low density lipoprotein receptor; MIM#224050). 20376468 2010
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Mutations in human LIS1 gene cause classical lissencephaly (smooth brain), resulting from defects in neuronal migration. 29470990 2018
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE We compared the phenotype, especially brain imaging studies, in a series of 48 children with lissencephaly, including 12 with Miller-Dieker syndrome (MDS), which is associated with large deletions of LIS1 and other genes in the region, 24 with isolated lissencephaly sequence caused by smaller LIS1 deletions or mutations, and 12 with isolated lissencephaly sequence caused by XLIS mutations. 10430413 1999
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Mutations in PAFAH1B1 (the gene encoding LIS1) are responsible for ILS and contribute to MDS, but the genetic causes of the greater severity of MDS are unknown. 12796778 2003
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Our results suggest that the lissencephaly severity in ILS caused by LIS1 mutations may be predicted by the type and location of the mutation. 11115846 2000
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Recent evidence suggests that mutations or deletions of the LIS1 gene, within band 17p13.3, are responsible for classical lissencephaly. 10369882 1999
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Miller-Dieker syndrome exhibits classical lissencephaly and is related to defects in the lissencephaly gene (LIS1). 18384621 2008
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Identifying these mechanisms has shed light on typical human neuronal migration disorders such as periventricular heterotopias (disorder of migration initiation linked to filamin), type I lissencephaly (cytoskeletal abnormality linked to Lis1, a microtubule-associated protein), double cortex syndrome (cytoskeletal abnormality linked to doublecortin, a microtubule-associated protein), or lissencephaly plus cerebellar hypoplasia (reelin defect). 16538086 2006
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Haploinsufficiency of PAFAH1B1 (encoding LIS1) causes either isolated lissencephaly sequence or Miller-Dieker syndrome, depending on the size of the deletion. 20452996 2010
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease CLINVAR A 1385A-->C mutation was found in the LIS1 gene in one patient with LIS more severe than expected for individuals with missense mutations in LIS1. 15007136 2004
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease UNIPROT These data thus confirm LIS1 as the gene responsible for classical lissencephaly in ILS and MDS. 9063735 1997
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Our results indicate that in Japan, as elsewhere, abnormality of the LIS1 gene is a common cause of MDS/ILS. 9860301 1998
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease CLINVAR These data thus confirm LIS1 as the gene responsible for classical lissencephaly in ILS and MDS. 9063735 1997
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Deletions of 17p13.3, including the LIS1 gene, result in the brain malformation lissencephaly, which is characterized by reduced gyration and cortical thickening; however, the phenotype can vary from isolated lissencephaly sequence (ILS) to Miller-Dieker syndrome (MDS). 12621583 2003
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Deletions of the lissencephaly critical region in chromosome 17p13.3, including LIS1, appear to be the most frequent cause of classical lissencephaly. 7907669 1993
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Furthermore, it interacts with the LIS1 gene of which haploinsufficiency causes a severe neuronal migration disorder in humans, known as classical lissencephaly or Miller-Dieker syndrome. 22368300 2012
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE A 1385A-->C mutation was found in the LIS1 gene in one patient with LIS more severe than expected for individuals with missense mutations in LIS1. 15007136 2004
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease UNIPROT LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome. 11163258 2000