Details of Disease

General Information of Disease (ID: DISKUZRU)

Disease Name Lissencephaly 8
Synonyms TMTC3 lissencephaly (disease); lissencephaly 8; LIS8; lissencephaly 8; LIS8; lissencephaly (disease) caused by mutation in TMTC3; lissencephaly type 8
Definition Any lissencephaly (disease) in which the cause of the disease is a mutation in the TMTC3 gene.
Disease Hierarchy
DISBCZL7: Lissencephaly spectrum disorders
DISKUZRU: Lissencephaly 8
Disease Identifiers
MONDO ID
MONDO_0014992
UMLS CUI
C4310646
OMIM ID
617255
MedGen ID
934613

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
TMTC3 OTMTTDYG Strong Autosomal recessive [1]
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References

1 mSmile is necessary for bronchial smooth muscle and alveolar myofibroblast development. Anat Rec (Hoboken). 2012 Jan;295(1):167-76. doi: 10.1002/ar.21475. Epub 2011 Sep 28.