Lissencephaly 1

Preferred Label : Lissencephaly 1;

Symbol : LIS1;

CISMeF acronym : SBH; SCLH; LIS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lissencephaly sequence, isolated; Lissencephaly, classic; ILS;

Included titles and symbols : Subcortical laminar heterotopia; Subcortical band heterotopia; SCLH; SBH;

Description : 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;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the platelet-activating factor acetylhydrolase, isoform 1B, alpha subunit gene (PAFAH1B1, 601545.0001);

Prefixed ID : #607432;

Details

Origin ID

607432;

UMLS CUI

C0431375;

Automatic exact mappings (from CISMeF team)
- DCX wt Allele [NCIt concept]
- Double Cortex Syndrome [NCIt concept]
- Illinois [NCIt concept]
- Lissencephaly due to LIS1 mutation [ORDO Disease]
- PAFAH1B1 wt Allele [NCIt concept]
- Platelet-Activating Factor Acetylhydrolase IB Subunit Alpha [NCIt concept]
- Subcortical band heterotopia [ICD-11 More detail]
- Subcortical band heterotopia [ORDO Disease]
- classical lissencephalies and subcortical band heterotopias [MeSH Descriptor]
- doublecortin [ORDO Gene]
- intralingual sulcus [UBERON concept]
- platelet activating factor acetylhydrolase 1b regulatory subunit 1 [ORDO Gene]
- platelet activating factor acetylhydrolase 1b regulatory subunit 1 [HGNC gene]
- subcortical band heterotopia [DO Concept]
- subcortical band heterotopia [MeSH concept]
- symbol withdrawn MDCR [HGNC gene]
Currated CISMeF NLP mapping
- 4-layered lissencephaly [HPO term]
- Classic lissencephaly [ICD-11 More detail]
- Classic lissencephaly [ORDO Disease]
- Classical Lissencephaly [NCIt concept]
- Type 1 lissencephaly (disorder) [SNOMED CT concept]
- lissencephalies, classical [MeSH concept]
- lissencephaly 1 [Disease (Nov.)]
DO Cross reference
- lissencephaly [DO Concept]
False automatic mappings
- Integrated Learning System [NCIt concept]
- Israel [NCIt concept]
Genes related to phenotype
- Platelet-activating factor acetylhydrolase, isoform 1b, alpha subunit [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Agyria [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Dilation of Virchow-Robin spaces [HPO term]
- Global developmental delay [HPO term]
- Gray matter heterotopia [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Intellectual disability [HPO term]
- Isolated cases [HPO term]
- Lissencephaly [HPO term]
- Pachygyria [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Spastic tetraparesis [HPO term]
- Sporadic [HPO term]
- Subcortical band heterotopia [HPO term]
- Variable expressivity [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Lissencephaly due to LIS1 mutation [ORDO Disease]
- Subcortical band heterotopia [ORDO Disease]
See also inter- (CISMeF)
- double cortex syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 4-layered lissencephaly [HPO term]
- Classic lissencephaly [ORDO Disease]
- Classical Lissencephaly [NCIt concept]
- Type 1 lissencephaly (disorder) [SNOMED CT concept]
- lissencephalies, classical [MeSH concept]
- lissencephaly 1 [Disease (Nov.)]

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