Details of Disease

General Information of Disease (ID: DISOMWF3)

Disease Name Parkinsonism due to ATP13A2 deficiency
Synonyms CLN12 disease
Disease Hierarchy
DISX9A5W: Juvenile neuronal ceroid lipofuscinosis
DIS09C7Z: Kufor-Rakeb syndrome
DISOMWF3: Parkinsonism due to ATP13A2 deficiency

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
ATP13A2 OTKWBUGK Supportive Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Hum Mol Genet. 2012 Jun 15;21(12):2646-50. doi: 10.1093/hmg/dds089. Epub 2012 Mar 2.