Details of Disease | DrugMAP

General Information of Disease (ID: DISE9VTC)

Disease Name	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
Synonyms	NADGP; neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset; neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset; NADGP
Disease Hierarchy	DISYKSRF: Genetic disease DISE9VTC: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
Disease Identifiers	MONDO ID MONDO_0014940 UMLS CUI C4310693 OMIM ID 617145 MedGen ID 934660

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SQSTM1	TTOT2RY	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SQSTM1	OTGY5D5J	Definitive	Autosomal recessive	[1]
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References

1	Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy. Am J Hum Genet. 2016 Sep 1;99(3):735-743. doi: 10.1016/j.ajhg.2016.06.026. Epub 2016 Aug 18.