Details of Disease

General Information of Disease (ID: DIS9ZVA1)

Disease Name Lissencephaly type 1 due to doublecortin gene mutation
Synonyms
lissencephaly and agenesis of corpus callosum; LISX1; subcortical laminar heterotopia, X-linked,; XLIS; X-linked lissencephaly; lissencephaly X-linked; Dc syndrome; subcortical laminar heterotopia, X-linked; lissencephaly, X-linked, 1; Double cortex syndrome; LISX; Xlis; subcortical band heterotopia, X-linked; lissencephaly type 1 due to doublecortin gene mutation; lissencephaly, X-linked, type 1; X-linked lissencephaly type 1; subcortical laminal heterotopia, X-linked; lissencephaly, X-linked
Definition Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterized by intellectual deficiency and seizures that are more severe in male patients.
Disease Hierarchy
DISR8S3S: Classic lissencephaly
DISHN7JS: Subcortical band heterotopia
DIS9ZVA1: Lissencephaly type 1 due to doublecortin gene mutation
Disease Identifiers
MONDO ID
MONDO_0010239
MESH ID
D054221
UMLS CUI
C4551968
OMIM ID
300067
MedGen ID
1644310
Orphanet ID
2148

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
MNT OTPC4ANL Strong Biomarker [1]
DCX OTISR7K3 Definitive X-linked [2]
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References

1 Loss of the Max-interacting protein Mnt in mice results in decreased viability, defective embryonic growth and craniofacial defects: relevance to Miller-Dieker syndrome.Hum Mol Genet. 2004 May 15;13(10):1057-67. doi: 10.1093/hmg/ddh116. Epub 2004 Mar 17.
2 Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene. Neurology. 2001 Jul 24;57(2):327-30. doi: 10.1212/wnl.57.2.327.