Details of Disease

General Information of Disease (ID: DISSD2MH)

Disease Name Lissencephaly due to LIS1 mutation
Synonyms LIS1; lissencephaly sequence, isolated; subcortical band heterotopia; subcortical laminar heterotopia; lissencephaly, classic; lissencephaly 1; PAFAH1B1-related lissencephaly
Definition
Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.
Disease Hierarchy
DISR8S3S: Classic lissencephaly
DISSD2MH: Lissencephaly due to LIS1 mutation
Disease Identifiers
MONDO ID
MONDO_0011830
UMLS CUI
C4749301
MedGen ID
1657090
Orphanet ID
95232
SNOMED CT ID
770560008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CEP85L OTSHJFOT Strong Autosomal dominant [1]
PAFAH1B1 OT9T2TCJ Definitive Autosomal dominant [2]
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References

1 Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. Neuron. 2020 Apr 22;106(2):237-245.e8. doi: 10.1016/j.neuron.2020.01.027. Epub 2020 Feb 24.
2 Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. Neurology. 2003 Oct 28;61(8):1042-6. doi: 10.1212/wnl.61.8.1042.