Lissencephaly 1 (SBH)

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OMIM 58 607432 MeSH 45 D054082 D054221 ICD10 via Orphanet 35 Q04.3 Orphanet 60 ORPHA95232

MedGen 43 C0431375 C1843916 C1848201 SNOMED-CT via HPO 70 128490007 128613002 16026008 224958001 228156007 23024003 246545002 247578003 276710001 298282001 313307000 416286003 417338002 84757009 91138005 91175000 more UMLS 74 C0431375 C1848201 C2931857 C4021586 more

OMIM : ⁵⁸ Lissencephaly (LIS), literally meaning smooth brain, is characterized by smooth or nearly smooth cerebral surface and a paucity of gyral and sulcal development, encompassing a spectrum of brain surface malformations ranging from complete agyria to subcortical band heterotopia (SBH). Classic lissencephaly is associated with an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia. SBH consists of circumferential bands of heterotopic neurons located just beneath the cortex and separated from it by a thin band of white matter. SBH represents the less severe end of the lissencephaly spectrum of malformations (Pilz et al., 1999, summary by Kato and Dobyns, 2003). Agyria, i.e., brain without convolutions or gyri, was considered a rare malformation until recent progress in neuroradiology (Bordarier et al., 1986). With this technical advantage, a number of lissencephaly syndromes have been distinguished. Classic lissencephaly (formerly type I) is a brain malformation caused by abnormal neuronal migration at 9 to 13 weeks' gestation, resulting in a spectrum of agyria, mixed agyria/pachygyria, and pachygyria. It is characterized by an abnormally thick and poorly organized cortex with 4 primitive layers, diffuse neuronal heterotopia, enlarged and dysmorphic ventricles, and often hypoplasia of the corpus callosum. (Lo Nigro et al., 1997). Kato and Dobyns (2003) presented a classification system for neuronal migration disorders based on brain imaging findings and molecular analysis. The authors also reviewed the contributions and interactions of the 5 genes then known to cause human lissencephaly: LIS1 or PAFAH1B1, 14-3-3-epsilon (YWHAE), DCX, RELN, and ARX. (607432)

MalaCards based summary : Lissencephaly 1, also known as lis1, is related to band heterotopia and lissencephaly, x-linked, 1. An important gene associated with Lissencephaly 1 is PAFAH1B1 (Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1), and among its related pathways/superpathways are Neuroscience and Cytoskeletal Signaling. Affiliated tissues include brain, cortex and t cells, and related phenotypes are intellectual disability and seizures

Genetics Home Reference : ²⁶ Isolated lissencephaly sequence (ILS) is a condition that affects brain development before birth. Normally, the cells that make up the exterior of the brain (cerebral cortex) are well-organized, multi-layered, and arranged into many folds and grooves (gyri). In people with ILS, the cells of the cerebral cortex are disorganized, and the brain surface is abnormally smooth with an absence (agyria) or reduction (pachygyria) of folds and grooves. In most cases, these abnormalities impair brain growth, causing the brain to be smaller than normal (microcephaly). This underdevelopment of the brain causes severe intellectual disability, delayed development, and recurrent seizures (epilepsy) in individuals with ILS.

UniProtKB/Swiss-Prot : ⁷⁶ Lissencephaly 1: A classical lissencephaly. It is characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six- layered cortex. The cortex is abnormally thick and poorly organized with 4 primitive layers. Associated with enlarged and dysmorphic ventricles and often hypoplasia of the corpus callosum. Subcortical band heterotopia: SBH is a mild brain malformation of the lissencephaly spectrum. It is characterized by bilateral and symmetric plates or bands of gray matter found in the central white matter between the cortex and cerebral ventricles, cerebral convolutions usually appearing normal.

Wikipedia : ⁷⁷ Lissencephaly is a set of rare brain disorders where the whole or parts of the surface of the brain... more...

Clinical features from OMIM:

607432

Search Clinical Trials , NIH Clinical Center for Lissencephaly 1

Search GEO for disease gene expression data for Lissencephaly 1.