Details of Disease | DrugMAP

General Information of Disease (ID: DIS4YMQP)

Disease Name	Lissencephaly 6 with microcephaly
Synonyms	LIS6; microlissencephaly caused by mutation in KATNB1; KATNB1 microlissencephaly; Microlissencephaly caused by mutation in KATNB1; KATNB1 Microlissencephaly; lissencephaly 6, with microcephaly; lissencephaly 6 with microcephaly
Definition	Any microlissencephaly in which the cause of the disease is a mutation in the KATNB1 gene.
Disease Hierarchy	DISUCKNT: Microlissencephaly DIS4YMQP: Lissencephaly 6 with microcephaly
Disease Identifiers	MONDO ID MONDO_0014534 UMLS CUI C4015525 OMIM ID 616212 MedGen ID 863962

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KATNB1	OT7CLZKS	Definitive	Autosomal recessive	[1]
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References

1	Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. Neuron. 2014 Dec 17;84(6):1226-39. doi: 10.1016/j.neuron.2014.12.014.