Details of Disease

General Information of Disease (ID: DIS1DIV7)

Disease Name Lissencephaly 7 with cerebellar hypoplasia
Synonyms LIS7; lissencephaly 7 with cerebellar hypoplasia
Disease Hierarchy
DISBCZL7: Lissencephaly spectrum disorders
DIS1DIV7: Lissencephaly 7 with cerebellar hypoplasia
Disease Identifiers
MONDO ID
MONDO_0014596
UMLS CUI
C4225359
OMIM ID
616342
MedGen ID
895680

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CDK5 TTL4Q97 Limited Biomarker [1]
CDK5 TTL4Q97 Strong Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CDK5 OT1YAK9F Strong Autosomal recessive [2]
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References

1 Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. Hum Genet. 2015 Mar;134(3):305-14. doi: 10.1007/s00439-014-1522-5. Epub 2015 Jan 6.
2 Perinatal abrogation of Cdk5 expression in brain results in neuronal migration defects. Proc Natl Acad Sci U S A. 2004 Apr 20;101(16):6249-54. doi: 10.1073/pnas.0307322101. Epub 2004 Apr 5.